Assay ID Gene Symbol Gene Symbol Alias Allele Nomenclature Polymorphism Amino Acid Change Phenotype NCBI SNP Reference hCV SNP Type Gene Name NCBI Gene Reference Context Sequence Location on NCBI Assembly NCBI Assembly Build Cytogenetic Band Chromosome Minor Allele Frequency Caucasian Minor Allele Frequency African American Minor Allele Frequency Japanese Minor Allele Frequency Chinese Species C__34257260_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 -/C |||| MIM:158343|PharmGKB:PA244 hCV34257260 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TATGCCTGGGAGCTGGCATTCAAGG[-/C]ACAAGGTGCTGGCCATCAGGCAGGA 16057553 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34257357_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 -/G |||| MIM:158343|PharmGKB:PA244 hCV34257357 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 CAAGTGGTTTCCTGGTGCTTCCCAC[-/G]GGAGGAGTTTTGGCAGCCAGACTTC 16142949 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34257363_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/G | MIM:603234 hCV34257363 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 GCACAGTCCATCACGGAGCGCAGGC[A/G]GTGGGCAATGAGCAGCACAGTGCAC 16151964 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34257366_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/C | MIM:603234 hCV34257366 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 TCAGGTCCTCGCCTCGGTCAGCACA[A/C]TTGTACTGCAGCTGGCCGGGCAGGC 16156012 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34257378_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 A/G | MIM:603234 hCV34257378 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 CTGTTCTCTAGGTCTGTCCAGTTGC[A/G]AACAACCCACTGCAGTGTCTGGGTC 16160914 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34257414_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 C/G | MIM:603234 hCV34257414 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 AGGAGGCTCAGGAAGACAGCGATGG[C/G]AGTGAGGGCGGAGGGCCCCAGGAGC 16194256 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 0 0 0 0 Homo sapiens C__34816078_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6*17,g.209C>T A/G MIM:122720|PharmGKB:PA121 rs8192722 hCV34816078 Intron cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 CAGCCAACTAGGCAGCCCCCACCCC[A/G]TGCCACCCATCTCCCTGCCTTGGGA 46047963 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 .11 0 0 Homo sapiens C__34816079_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6*1B3,g.-395G>A C/T MIM:122720|PharmGKB:PA121 hCV34816079 cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 TCTGGGGGTTCCAGGGGAGAGGAAT[C/T]CAAAGGTCTGGGTTTTATTAGGGTA 46048566 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__34816083_20 CYP2A13 CPAD|CYP2A CYP2A13*2A,g.-1429A>G|CYP2A13*2B,g.-1429A>G A/G MIM:608055 hCV34816083 cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 AGATTCAACCAGATCATACACACCT[A/G]GACTTAATCTTCCCATATATGACCA 46284788 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .02 .15 .01 .06 Homo sapiens C__34816085_20 CYP2A13 CPAD|CYP2A CYP2A13*1J,g.523C>T C/T C82C MIM:608055 hCV34816085 Silent Mutation cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 GGCCCCGGCGGGTCGTGGTGCTGTG[C/T]GGACATGATGCCGTCAAGGAGGCTC 46286739 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__34816088_20 CYP2A13 CPAD|CYP2A CYP2A13*3,g.1970A>C A/C T177T MIM:608055 hCV34816088 Silent Mutation cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 ATCCCACCTTCTTCCTGAGCCGCAC[A/C]GTCTCCAATGTCATCAGCTCCATTG 46288186 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 .02 .05 0 Homo sapiens C__34816089_20 CYP2A13 CPAD|CYP2A CYP2A13*1K,g.1991C>A A/C S184S MIM:608055 hCV34816089 Silent Mutation cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 GCACAGTCTCCAATGTCATCAGCTC[A/C]ATTGTCTTTGGGGACCGCTTTGACT 46288207 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__34816090_20 CYP2A13 CPAD|CYP2A CYP2A13*2A,g.2211T>C|CYP2A13*2B,g.2211T>C|CYP2A13*3,g.2211T>C C/T MIM:608055 rs8192786 hCV34816090 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 CCAGACAGTGTCCCCTCAAAATCAG[C/T]CCCCGATATTGGACAACTGGACGGT 46288427 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .04 .19 .06 .06 Homo sapiens C__34816093_20 CYP2A13 CPAD|CYP2A CYP2A13*3,g.5578A>C A/C MIM:608055 hCV34816093 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 ATCCCCTAAGTTCCTCCCTGTGCCT[A/C]CCCTGTGATTCTGACACAACCTGGT 46291794 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 .05 .05 0 Homo sapiens C__34816095_10 CYP2S1 CYP2S1*1B,g.1300G>A A/G P66P hCV34816095 Silent Mutation cytochrome P450, family 2, subfamily S, polypeptide 1 NM_030622 CCCAGCTGAGTAAGAAGTACGGACC[A/G]GTGTTCACCATCTACCTGGGACCGT 46392309 NCBI Build 36.2 Human 19q,19q13.2c,19q13.2,19q13,19q1 19 .01 0 0 0 Homo sapiens C__34816097_10 CYP2S1 CYP2S1*2,g.10347C>T C/T R380C hCV34816097 Mis-sense Mutation cytochrome P450, family 2, subfamily S, polypeptide 1 NM_030622 ACCCCGCACCCTCATGCGGACCACC[C/T]GCTTCCGAGGGTACACCCTGCCCCA 46401356 NCBI Build 36.2 Human 19q,19q13.2c,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__34816104_20 UGT2B4 UGT2B11 UGT2B4*3,c.325T>C A/G MIM:600067 hCV34816104 UDP glucuronosyltransferase 2 family, polypeptide B4 NM_021139 CACATGATTTCTTGTACTTGTGAAA[A/G]ATATGACCAAAATGTGTCTTTTGGA 70395844 NCBI Build 36.2 Human 4q,4q13.2c,4q13.2,4q13,4q1 4 0 0 0 0 Homo sapiens C__34816105_20 UGT2B4 UGT2B11 UGT2B4*3,c.1186T>C A/G MIM:600067 hCV34816105 UDP glucuronosyltransferase 2 family, polypeptide B4 NM_021139 GCAATGTTATCAGGTTGATCTGCAA[A/G]CAATGGAACGCCCACCATAGGGATT 70385639 NCBI Build 36.2 Human 4q,4q13.2c,4q13.2,4q13,4q1 4 0 0 0 0 Homo sapiens C__34816107_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*4C,g.3887T>C A/G P421L|P370L MIM:124030|PharmGKB:PA128 hCV34816107 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 CTTCACAAAGTGGCCCTGGGCATCC[A/G]GGAAGTGTTCGGGGTGGAAGCGGAA 40852850 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 0 0 0 Homo sapiens C__34816108_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*4H,g.3877G>C|CYP2D6*52,g.3877G>A C/G | MIM:124030|PharmGKB:PA128 rs28371733 hCV34816108 | cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 TGGCCCTGGGCATCCAGGAAGTGTT[C/G]GGGGTGGAAGCGGAAGGGCTTCTCC 40852860 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 0 0 0 Homo sapiens C__34816113_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*29,g.3183G>A C/T M338V|M287V MIM:124030|PharmGKB:PA128 hCV34816113 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 TCTGGTCGCCGCACCTGCCCTATCA[C/T]GTCGTCGATCTCCTGTTGGACACGG 40853554 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 .09 0 0 Homo sapiens C__34816114_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*51,g.3172A>C G/T E334A|E283A MIM:124030|PharmGKB:PA128 hCV34816114 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 CACCTGCCCTATCACGTCGTCGATC[G/T]CCTGTTGGACACGGCCTGGACAGAC 40853565 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 0 0 0 Homo sapiens C__34816116_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*2M,g.2988G>A|CYP2D6*41,g.2988G>A|CYP2D6*41A,g.2988G>A C/T | MIM:124030|PharmGKB:PA128 rs28371725 hCV34816116 Intron|Intron cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 TTCATGGGCCCCCGCCTGTACCCTT[C/T]CTCCCTCGGCCCCTGCACTGTTTCC 40853749 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 .11 .04 0 .02 Homo sapiens C__34816123_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*4F,g.1858C>T A/G R173C|R122C MIM:124030|PharmGKB:PA128 hCV34816123 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 GCTTTGTCCAAGAGACCGTTGGGGC[A/G]AAAGGGGCGTCCTGGGGGTGGGAGA 40854879 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 0 0 0 Homo sapiens C__34816127_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*2L,g.1513C>T|CYP2D6*41B,g.1513C>T A/G | MIM:124030|PharmGKB:PA128 hCV34816127 Intron|Intron cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 AACCCTATGCTCCCCCTGGTCTCCC[A/G]CAGTCCCTGGCTCTGTCCAGCTGGT 40855224 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 0 0 0 Homo sapiens C__34816131_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*45A,g.-1011T>C A/G | MIM:124030|PharmGKB:PA128 hCV34816131 | cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 GGCTGCCTGAGGGTCGTCCTCCTCC[A/G]CTGCTTTCTGGCCTCCATGTTTCTG 40857748 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 .01 0 0 Homo sapiens C__34816135_20 CYP2C19 CPCJ|CYP2C|CYP 2C|P450C2C|P450IIC19|RP11-400G3.4 CYP2C19*3,c.1251A>C|CYP2C19*3A,c.1251A>C|CYP2C19*3A,g.87313A>C|CYP2C19*3B,c.1251A>C|CYP2C19*3B,g.87313A>C A/C G417G MIM:124020|PharmGKB:PA124 rs17886522 hCV34816135 Silent Mutation cytochrome P450, family 2, subfamily C, polypeptide 19 NM_000769 CTCGTCACTTTCTGGATGAAGGTGG[A/C]AATTTTAAGAAAAGTAACTACTTCA 96599765 NCBI Build 36.2 Human 10q,10q23.33c,10q23.33,10q23.3,10q23,10q2 10 0 .03 .14 .03 Homo sapiens C__34816136_20 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*13,c.269T>C|CYP2C9*13,g.3276T>C C/T P90L MIM:601130|PharmGKB:PA126 hCV34816136 Mis-sense Mutation cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 GCAGTGAAGGAAGCCCTGATTGATC[C/T]TGGAGAGGAGTTTTCTGGAAGAGGC 96691705 NCBI Build 36.2 Human 10q,10q23.33c,10q23.33,10q23.3,10q23,10q2 10 0 0 0 0 Homo sapiens C__34816138_20 CYP2C9 CPC9|CYP2C|CYP2C10|MGC88320|P450IIC9|MGC149605|P450 MP-4|P450 PB-1 CYP2C9*18,g.-1537G>A|CYP2C9*3A,g.-1537G>A|CYP2C9*3B,g.-1537G>A A/G MIM:601130|PharmGKB:PA126 hCV34816138 cytochrome P450, family 2, subfamily C, polypeptide 9 NM_000771 AAATGGGTCAATTTTATTGTAAGCA[A/G]AGGTAATTGAGAGATTCAAAAGGGA 96686893 NCBI Build 36.2 Human 10q,10q23.33c,10q23.33,10q23.3,10q23,10q2 10 .1 .03 .07 .01 Homo sapiens C__34816139_10 CYP2R1 MGC4663 CYP2R1*2,c.296T>C A/G P99L MIM:608713 hCV34816139 Mis-sense Mutation cytochrome P450, family 2, subfamily R, polypeptide 1 NM_024514 TGCAAAAATTTCGCTTTGATGAACA[A/G]GGCATTCCTTTACTACATCATAGCC 14863969 NCBI Build 36.2 Human 11p,11p15.2b,11p15.2,11p15,11p1 11 0 .01 0 0 Homo sapiens C__34816140_20 UGT1A10 UDPGT|UGT1J UGT1A10*2,g.177G>A|UGT1A10*5,g.177G>A A/G I59M MIM:606435 hCV34816140 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A10 NM_019075 GGGGGCATGAGGTGGTTGTAGTCAT[A/G]CCAGAGGTGAGTTGGCAACTGGAAA 234210084 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 .01 0 Homo sapiens C__34816141_20 UGT1A10 UDPGT|UGT1J UGT1A10*3,g.605C>T|UGT1A10*6,g.605C>T C/T T202I MIM:606435 hCV34816141 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A10 NM_019075 CTCTTAGGGTTCTCAGATGCCATGA[C/T]TTTCAAGGAGAGAGTATGGAACCAC 234210512 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 .01 Homo sapiens C__34816142_20 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI UGT1A9*4,c.726T>G|UGT1A9*4,g.726T>G G/T *242Y MIM:606434|PharmGKB:PA419 hCV34816142 Nonsense Mutation UDP glucuronosyltransferase 1 family, polypeptide A9 NM_021027 TTCTCCAAACACCTGTTACGGAGTA[G/T]GATCTCTACAGCCACACATCAATTT 234246045 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C__34816143_20 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI UGT1A9*5,c.766G>A|UGT1A9*5,g.766G>A A/G N256D MIM:606434|PharmGKB:PA419 hCV34816143 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A9 NM_021027 CACATCAATTTGGTTGTTGCGAACG[A/G]ACTTTGTTTTGGACTATCCCAAACC 234246085 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 .01 0 Homo sapiens C__34816144_10 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*14,g.826G>C C/G R276G MIM:191740|PharmGKB:PA420 hCV34816144 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 CATCATGCCCAATATGGTTTTTGTT[C/G]GTGGAATCAACTGCCTTCACCAAAA 234334498 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C__34816145_10 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*10,g.1021C>T C/T MIM:191740|PharmGKB:PA420 hCV34816145 Intron UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 TTGACTCCTAGGTTTGAGTCTGTCT[C/T]TGGCATCATCTTCTGGATGATTTCT 234334693 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C__34816146_10 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*14,g.5112C>T C/T T438I MIM:124060|PharmGKB:PA27093 hCV34816146 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 GAGCGGTTCCTCACCGCCGATGGCA[C/T]TGCCATTAACAAGCCCTTGAGTGAG 72834244 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 0 .01 0 Homo sapiens C__34816147_10 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*3,g.2385G>A A/G MIM:124060|PharmGKB:PA27093 hCV34816147 Acceptor Splice Site cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 CTCTGCTTGTCCTCTGTGTTCTACA[A/G]ACACTGTGATTGGCAGGGAGCGGCG 72831517 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 0 0 0 Homo sapiens C__34816151_10 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*11,g.558C>A A/C L186F MIM:124060|PharmGKB:PA27093 hCV34816151 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 AGCTGATGGCAGGGCCTGGGCACTT[A/C]GACCCTTACAATCAGGTGGTGGTGT 72829690 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 0 0 0 Homo sapiens C__34816152_20 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*10,g.502G>C C/G Q168E MIM:124060|PharmGKB:PA27093 hCV34816152 Mis-sense Mutation cytochrome P450, family 1, subfamily A, polypeptide 2 NM_000761 CTACCTGGAGGAGCATGTGAGCAAG[C/G]AGGCTAAGGCCCTGATCAGCAGGTT 72829634 NCBI Build 36.2 Human 15q,15q24.1b,15q24,15q24.1,15q2 15 0 0 0 0 Homo sapiens C__34816154_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*31,g.295A>G A/G MIM:201910 hCV34816154 Acceptor Splice Site cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 GCTGACGCTGCTTTGGCTGTCTCCC[A/G]GATGTGGTGGTGCTGAACTCCAAGA 32114476 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__34255546_10 SULT2B1 HSST2 C/T S36L|S51L MIM:604125|PharmGKB:PA36249 rs16982149 hCV34255546 Mis-sense Mutation|Mis-sense Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 CTGTACTCGCTCGAGAGCATCAGCT[C/T]GGCGGAGAACACCCAAGATGTGCGG 53771090 NCBI Build 36.2 Human 19q,19q13.32c,19q13.32,19q13.3,19q13,19q1 19 .02 0 0 0 Homo sapiens C__34255573_10 SULT2B1 HSST2 A/G K185K|K200K MIM:604125|PharmGKB:PA36249 rs16982159 hCV34255573 Silent Mutation|Silent Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 ACATTAAGGGCTGGCTTCGGATGAA[A/G]GGCAAAGACAACTTCCTATTTATCA 53787840 NCBI Build 36.2 Human 19q,19q13.32c,19q13.32,19q13.3,19q13,19q1 19 .01 0 0 0 Homo sapiens C__34816076_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6*17,c.1093G>A|CYP2A6*17,g.5065G>A C/T M365V MIM:122720|PharmGKB:PA121 rs28399454 hCV34816076 Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 CTGCGGGCCAAACTCATGGGGATCA[C/T]GTCTCCAAATCTTTGGATCTCGTGG 46043107 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 .08 0 0 Homo sapiens C___2965938_30 SLC22A3 EMT|EMTH|OCT3 C/T MIM:604842|PharmGKB:PA330 rs668871 hCV2965938 solute carrier family 22 (extraneuronal monoamine transporter), member 3 NM_021977 ACCCACTCGCCGCCTTCCCCAACCG[C/T]TCGGCTCCCCTTGTGCCGTGCCGCG 160689801 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 .45 .42 .27 .3 Homo sapiens C___3111809_20 SLC22A2 OCT2|MGC32628 A/C A270S MIM:602608|PharmGKB:PA331 rs316019 hCV3111809 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 2 NM_003058 AGCAAGAAGAAGAAGTTGGGCAGAG[A/C]AACTGTGAACTGCAACCACCTCCAG 160590272 NCBI Build 36.2 Human 6q,6q25.3f,6q25.3,6q25,6q2 6 .21 .1 .14 .13 Homo sapiens C___2977319_30 ALDH3A1 ALDH3|ALDHIII|MGC10406 A/T P247P MIM:100660 rs2072330 hCV2977319 Silent Mutation aldehyde dehydrogenase 3 family, memberA1 NM_000691 TCGAGGGGTCACAGAGGATGTAGTC[A/T]GGGGCCACGCAGGTCTGGCCACTGT 19585064 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 .44 .09 .35 .23 Homo sapiens C___2977322_40 ALDH3A1 ALDH3|ALDHIII|MGC10406 C/G P329A MIM:100660 rs2228100 hCV2977322 Mis-sense Mutation aldehyde dehydrogenase 3 family, memberA1 NM_000691 CCGAAGATCTCCTCTTGCATCACCG[C/G]GGACTGGGGGTCCACGTCCGTGAGG 19583544 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 .32 .47 .41 .37 Homo sapiens C___3120981_20 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G MIM:126065 rs4809957 hCV3120981 UTR 3 cytochrome P450, family 24, subfamily A, polypeptide 1 NM_000782 GCAAGACAGAACAGGCTCCCAGGCC[A/G]TTCTAAGCACCTGAAGATGGTGCTG 52204578 NCBI Build 36.2 Human 20q,20q13.2c,20q13.2,20q13,20q1 20 .19 .38 .34 .34 Homo sapiens C___3120982_30 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G MIM:126065 rs2762934 hCV3120982 UTR 3 cytochrome P450, family 24, subfamily A, polypeptide 1 NM_000782 TGCCTTGGATCCCAGCACTCAGTCC[A/G]CTTCCCTGAGTTGGATATGATGTTA 52204668 NCBI Build 36.2 Human 20q,20q13.2c,20q13.2,20q13,20q1 20 .16 .15 .13 .11 Homo sapiens C___2991263_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs1048099 hCV2991263 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TCAGGATCCACCGCAGGTTGTGCCC[A/G]GGGAAATGAAGCCATGTGCTGTGGT 17453092 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 .5 .33 .44 .3 Homo sapiens C___3036255_30 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 A/G MIM:603593|PharmGKB:PA35925 rs2281677 hCV3036255 UTR 5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 AGCAGGTTCTCACGGCAGTGTGAGC[A/G]GCAGTCAGGGAGAGAAGTGCCTTCC 22354412 NCBI Build 36.2 Human 14q,14q11.2f,14q11.2,14q1,14q11 14 .36 .46 .27 .27 Homo sapiens C___1026086_70 CYP27A1 CTX|CP27|CYP27 A/G P146P MIM:606530 rs692003 hCV1026086 Silent Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 ACCAGCACGACCTGACCTATGGGCC[A/G]TTCACCACGTGAGCTGGGGCCTGAA 219382726 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 .2 0 0 Homo sapiens C___1026099_20 CYP27A1 CTX|CP27|CYP27 C/T Q159* MIM:606530 hCV1026099 Nonsense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 AGGACACCACTGGTACCAGCTGCGC[C/T]AGGCTCTGAACCAGCGGTTGCTGAA 219385217 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C___1026100_20 CYP27A1 CTX|CP27|CYP27 C/T R137W MIM:606530 hCV1026100 Mis-sense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CGACATGGAGCTATGGAAGGAGCAC[C/T]GGGACCAGCACGACCTGACCTATGG 219382697 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C___1035370_30 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 A/T | MIM:602783 rs458440 hCV1035370 UTR 3| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 ATGGAACACTTCGAGTTCCCAGGGT[A/T]ATAGACAGTCGTTCCCAGTGTGGCT 88151280 NCBI Build 36.2 Human 16q,16q24.3b,16q24.3,16q24,16q2 16 0 0 0 0 Homo sapiens C___1035492_30 NQO1 DTD|QR1|DHQU|DIA4|NMOR1|NMORI C/T E24E|E24E|E24E MIM:125860|PharmGKB:PA31744 rs689453 hCV1035492 Silent Mutation|Silent Mutation|Silent Mutation NAD(P)H dehydrogenase, quinone 1 NM_000903|NM_001025433|NM_001025434 TCTTCTTCAAAGCCGCTGCAGCAGC[C/T]TCCTTCATGGCATAGTTGAAGGACG 68309874 NCBI Build 36.2 Human 16q,16q22.1e,16q22.1,16q22,16q2 16 .06 .05 0 0 Homo sapiens C___1046354_30 NR3C1 GR|GCR|GRL|GCCR C/G N517K|N517K|N517K|N517K|N517K|N517K|N518K MIM:138040|PharmGKB:PA181 rs33391 hCV1046354 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GTAACGTTGCAGGAACTATTGTTTT[C/G]TTACCAGGATTTTCAGAGGTTTCTT 142660439 NCBI Build 36.2 Human 5q,5q31.3e,5q31.3,5q3,5q31 5 0 0 0 0 Homo sapiens C___1046359_40 NR3C1 GR|GCR|GRL|GCCR A/G |||||| MIM:138040|PharmGKB:PA181 rs258751 hCV1046359 |||||| nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 CAAATAGCTCTTGGCTCTTCAGACC[A/G]TCCTTAGGAACTAAAAGGTTAAGAT 142642473 NCBI Build 36.2 Human 5q,5q31.3e,5q31.3,5q3,5q31 5 0 .09 .12 .09 Homo sapiens C___1049615_20 GSTP1 PI|DFN7|GST3|FAEES3 C/T A114V MIM:134660|PharmGKB:PA29028 rs1138272 hCV1049615 Mis-sense Mutation glutathione S-transferase pi NM_000852 ATACATGGTGGTGTCTGGCAGGAGG[C/T]GGGCAAGGATGACTATGTGAAGGCA 67110155 NCBI Build 36.2 Human 11q,11q13.2,11q13.2a,11q13,11q1 11 .05 .02 0 0 Homo sapiens C___1115304_20 EPHX1 MEH|EPHX|EPOX A/C Y374S MIM:132810|PharmGKB:PA27829 hCV1115304 Mis-sense Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 ACCATCATCTCCTCCCAGCGCTTCT[A/C]CAAGGAGAACCTGGGACAGGGCTGG 224098902 NCBI Build 36.2 Human 1q,1q42.12c,1q42.12,1q42.1,1q42,1q4 1 0 0 0 0 Homo sapiens C___1147370_20 ALDH3B2 ALDH8 A/C | MIM:601917 rs7947978 hCV1147370 UTR 5|Intron aldehyde dehydrogenase 3 family, member B2 NM_000695|NM_001031615 CTGCTGACTGCGATCCTCCCAGGAG[A/C]CTGGCAGCTCCCAAACCAACTCCCG 67198619 NCBI Build 36.2 Human 11q,11q13.2,11q13.2a,11q13,11q1 11 .14 .37 .07 .21 Homo sapiens C___3051424_30 SULT1A1 PST|STP|STP1|P-PST|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2 T/C |||| MIM:171150|PharmGKB:PA343 rs2077412 hCV3051424 UTR 5|UTR 5|||Intron sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 CGCCCGCAGTGGCTGATTGTGGGTG[T/C]TGTGTGGGGAATGCAGGGTTGTTCT 28528812 NCBI Build 36.2 Human 16p,16p11,16p11.2e,16p11.2,16p1 16 .27 .21 .36 .46 Homo sapiens C___1173642_30 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860 UGT1A6*2,c.552A>C|UGT1A6*2a,c.552A>C|UGT1A6*2a,g.552A>C|UGT1A6*2b,c.552A>C|UGT1A6*2b,g.552A>C|UGT1A6*2c,c.552A>C|UGT1A6*2c,g.552A>C|UGT1A6*2d,c.552A>C|UGT1A6*2d,g.552A>C|UGT1A6*2e,c.552A>C|UGT1A6*2e,g.552A>C|UGT1A6*3,c.552A>C|UGT1A6*4a,c.552A>C|UGT1A6*4a,g.552A>C|UGT1A6*4b,c.552A>C|UGT1A6*4b,g.552A>C|UGT1A6*4c,c.552A>C|UGT1A6*4c,g.552A>C|UGT1A6*6,c.552A>C|UGT1A6*6,g.552A>C|UGT1A6*7,c.552A>C|UGT1A6*7,g.552A>C|UGT1A6*8,c.552A>C|UGT1A6*8,g.552A>C|UGT1A6*9,c.552A>C|UGT1A6*9,g.552A>C A/C || MIM:606431|PharmGKB:PA37181 rs1105879 hCV1173642 ||Intron UDP glucuronosyltransferase 1 family, polypeptide A6 NM_001072|NM_007120|NM_205862 GTTCCCTGGAGCATACATTCAGCAG[A/C]AGCCCAGACCCTGTGTCCTACATTC 234266941 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 .41 .3 .22 .13 Homo sapiens C___3060347_60 CYP4F11 C/T N446D rs1060463 hCV3060347 Mis-sense Mutation cytochrome P450, family 4, subfamily F, polypeptide 11 NM_021187 GACCTCTCCTTGATGTTCTCTTGGT[C/T]GAAACGGAAGGGGTCGTAGACCTGC 15886176 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .47 .49 .41 .37 Homo sapiens C___1204093_20 NAT2 AAC2 NAT2*14C,g.341T>C|NAT2*14F,g.341T>C|NAT2*5A,g.341T>C|NAT2*5B,g.341T>C|NAT2*5C,g.341T>C|NAT2*5D,g.341T>C|NAT2*5E,g.341T>C|NAT2*5F,g.341T>C|NAT2*5G,g.341T>C|NAT2*5H,g.341T>C|NAT2*5I,g.341T>C|NAT2*5J,g.341T>C C/T PharmGKB:PA18|MIM:243400 rs1801280 hCV1204093 N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 GTTCACCTTCTCCTGCAGGTGACCA[C/T]TGACGGCAGGAATTACATTGTCGAT 18302134 NCBI Build 36.2 Human 8p,8p22a,8p22,8p2 8 .46 .32 0 .03 Homo sapiens C___1205144_40 GSTA4 GTA4|GSTA4-4|DKFZp686D21185|RP1-214M20.1 G/T MIM:605450 rs367836 hCV1205144 UTR 3 glutathione S-transferase A4 NM_001512 TGATATTTCTAGAAGAGATGATCTC[G/T]TTGACACAAAAGACCCAACTTAGGA 52951090 NCBI Build 36.2 Human 6p,6p12.1,6p12.1d,6p1,6p12 6 .37 .47 .2 .28 Homo sapiens C___1207695_20 CHST11 C4ST|C4ST1|C4ST-1|HSA269537 C/T MIM:610128 rs7847 hCV1207695 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 TTTGTGGAGTGTGATTTTCTTTTTT[C/T]ACATATTTGTATGCAGTAGAGAGCC 103679735 NCBI Build 36.2 Human 12q,12q23.3b,12q23.3,12q23,12q2 12 .28 .22 .17 .33 Homo sapiens C___1207697_20 CHST11 C4ST|C4ST1|C4ST-1|HSA269537 C/T MIM:610128 rs2453155 hCV1207697 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 ATGGTTCTAATCCTGGATACTGCCA[C/T]GGACTACAATTCTATCCCTCCCAGA 103678265 NCBI Build 36.2 Human 12q,12q23.3b,12q23.3,12q23,12q2 12 .32 .38 .39 .49 Homo sapiens C___1207698_20 CHST11 C4ST|C4ST1|C4ST-1|HSA269537 A/G MIM:610128 rs2463437 hCV1207698 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 AGTCTCCATCTGGTTTATAGCAACA[A/G]AGGTACTTTATTTAATGAAGCAATG 103678217 NCBI Build 36.2 Human 12q,12q23.3b,12q23.3,12q23,12q2 12 .29 .37 .4 .41 Homo sapiens C___1207700_20 CHST11 C4ST|C4ST1|C4ST-1|HSA269537 C/T MIM:610128 rs903247 hCV1207700 carbohydrate (chondroitin 4) sulfotransferase 11 NM_018413 TATACCCTTGATGGATGGAGATTTA[C/T]GCAATGTGTTTTACTGGGTAGAGTG 103677700 NCBI Build 36.2 Human 12q,12q23.3b,12q23.3,12q23,12q2 12 .32 .41 .42 .44 Homo sapiens C___1218665_20 POR DKFZp686G04235|CPR|CYPOR|P450R|FLJ26468 A/G S572S MIM:124015|PharmGKB:PA33532 rs1057870 hCV1218665 Silent Mutation P450 (cytochrome) oxidoreductase NM_000941 TGCTGTACTACGGCTGCCGCCGCTC[A/G]GATGAGGACTACCTGTACCGGGAGG 75453223 NCBI Build 36.2 Human 7q,7q11.23e,7q11.23,7q11.2,7q11,7q1 7 .41 .19 .03 .02 Homo sapiens C___1253768_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 G/T || MIM:171060|PharmGKB:PA268 rs11979496 hCV1253768 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 CATATCAGTCTACCATGACCATGAG[G/T]ATTCTCTTCTTAAATCAACCCAAAT 86944616 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 .15 0 0 Homo sapiens C___1253826_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/T MIM:171050|PharmGKB:PA267 rs10276036 hCV1253826 Intron ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 AACCATCAGGCTACTGAGATAGTGA[C/T]AGCAATTTTTTTTCATACTTCTTCT 87018134 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 .48 .24 .33 .34 Homo sapiens C___3184518_70 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704 C/T I224V MIM:138390 rs7483 hCV3184518 Mis-sense Mutation glutathione S-transferase M3 (brain) NM_000849 GCAAGTCTGCCTCCTGCTCAGCATA[C/T]AGGCTTGTTGCCCCACTGGGCCATC 110081224 NCBI Build 36.2 Human 1p,1p13.3b,1p13.3,1p1,1p13 1 .3 .11 .27 .25 Homo sapiens C___3184522_30 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704 G/T MIM:138390 rs1332018 hCV3184522 UTR 5 glutathione S-transferase M3 (brain) NM_000849 TGTGAGCGGGAGGGGCTTTATACCC[G/T]ACATAAGGGGGCGGGGCCCACGCGC 110084495 NCBI Build 36.2 Human 1p,1p13.3b,1p13.3,1p1,1p13 1 .44 .14 .24 .12 Homo sapiens C___3188393_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T MIM:609506 rs8176351 hCV3188393 UTR 3 cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 CTCTCAAAGAGCTTACATGCAAAGA[C/T]GAAGGACCAACCAGGTACAGACCAG 56442777 NCBI Build 36.2 Human 12q,12q14.1,12q14,12q14.1a,12q1 12 0 .03 0 0 Homo sapiens C___3188814_30 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 C/T | MIM:603234 rs2238472 hCV3188814 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 AGGTCGGTATCTTAGCCCAAAGTCC[C/T]GGAACTCGATCTGCCCGCCCTGAGG 16159100 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .27 .07 .16 .08 Homo sapiens C___3188829_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/T |||| MIM:158343|PharmGKB:PA244 rs212090 hCV3188829 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 AGAACAATCAATGCTGTTATTACTG[A/T]TCCCACCATGATTGATGTGGGGTAA 16143505 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .46 .19 .24 .12 Homo sapiens C___3188834_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G |||| MIM:158343|PharmGKB:PA244 rs2239330 hCV3188834 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TGGGGCGGACGGGAGCTGGGAAGTC[A/G]TCCCTGACCCTGGGCTTATTTCGGA 16135743 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .27 .09 .18 .07 Homo sapiens C___3079502_10 SLC28A2 CNT2|HCNT2|SPNT1|HsT17153|MGC138252 C/T MIM:606208|PharmGKB:PA386 rs11854484 hCV3079502 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 NM_004212 ACAGTGGAGACTGGCACAGTGAACC[C/T]GGGGCTGGAGCTCATGGTAATCACC 43332770 NCBI Build 36.2 Human 15q,15q21.1,15q21.1a,15q2,15q21 15 .36 .18 .01 .09 Homo sapiens C___3099975_20 CYP1B1 CP1B|GLC3A A/G MIM:601771|PharmGKB:PA27094 rs1056837 hCV3099975 cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 TGGTCAGGTCCTTGTTGATGAGGCC[A/G]TCCTTGTCCAAGAATCGAGCTGGAT 38151654 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 .49 .28 .18 .09 Homo sapiens C___3099976_30 CYP1B1 CP1B|GLC3A CYP1B1*3,g.4326C>G|CYP1B1*5,g.4326C>G|CYP1B1*6,g.4326C>G|CYP1B1*7,g.4326C>G C/G L432V MIM:601771|PharmGKB:PA27094 rs1056836 hCV3099976 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 AAGTTCTCCGGGTTAGGCCACTTCA[C/G]TGGGTCATGATTCACAGACCACTGG 38151707 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 .49 .28 .18 .09 Homo sapiens C___3101331_10 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 A/G Q312R MIM:604988 rs12422149 hCV3101331 Mis-sense Mutation solute carrier organic anion transporter family, member 2B1 NM_007256 GAAAAACGTGAGCTTCAGTTTCGGC[A/G]AAAGGTCTTAGCAGTCACAGACTCA 74561225 NCBI Build 36.2 Human 11q,11q13.4c,11q13.4,11q13,11q1 11 .16 .16 .34 .3 Homo sapiens C___1253769_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || MIM:171060|PharmGKB:PA268 rs3747806 hCV1253769 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GAGGATTCTCTTCTTAAATCAACCC[A/G]AATTCCTTCCCTTCACTGGTCTAAC 86944638 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 .04 .22 0 0 Homo sapiens C___3189036_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|ABC34|MOATE|EST349056 G/T | MIM:603234 rs8058694 hCV3189036 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NM_001079528|NM_001171 CCTGGGACCAGGCGAAGGTGGCACT[G/T]TGTATGGTGATGCAATCCTTCCCGG 16186364 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .42 .33 .15 .09 Homo sapiens C__27861780_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/C C93F MIM:609300 hCV27861780 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 ACTTACCATTTGAGGCCGCCCAGAG[A/C]AGTCCTTGCCCTTCTTAATAAGCAC 104586831 NCBI Build 36.2 Human 10q,10q24.32b,10q24.32,10q24.3,10q24,10q2 10 0 0 0 0 Homo sapiens C__27861781_20 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G R96W MIM:609300 hCV27861781 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 TGGGCACCACTTACCATTTGAGGCC[A/G]CCCAGAGAAGTCCTTGCCCTTCTTA 104586823 NCBI Build 36.2 Human 10q,10q24.32b,10q24.32,10q24.3,10q24,10q2 10 0 0 0 0 Homo sapiens C__27861783_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/T H373L MIM:609300 hCV27861783 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 ACACCTGGAGTCAACGTTGGCCTTG[A/T]GGGGGATGAGCATAGGGGCCACGGG 104582279 NCBI Build 36.2 Human 10q,10q24.32b,10q24.32,10q24.3,10q24,10q2 10 0 0 0 0 Homo sapiens C__27861784_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/G P409R MIM:609300 hCV27861784 Mis-sense Mutation cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102 AGACTCACCAGGCATGAACTGATCC[C/G]GCTGGTGCCACTCCTTCTCATTGTG 104581272 NCBI Build 36.2 Human 10q,10q24.32b,10q24.32,10q24.3,10q24,10q2 10 0 0 0 0 Homo sapiens C__27861787_10 CYP1B1 CP1B|GLC3A A/G T1M MIM:601771|PharmGKB:PA27094 hCV27861787 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 GTCGTTCGGGCTGAGGCTGGTGCCC[A/G]TGCTGGGGACAGAGAGGAGAAGGCG 38156034 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 0 0 0 0 Homo sapiens C__27861788_20 CYP1B1 CP1B|GLC3A A/G L345F MIM:601771|PharmGKB:PA27094 hCV27861788 Mis-sense Mutation cytochrome P450, family 1, subfamily B, polypeptide 1 NM_000104 TCCCAGAGGCTTTACCTGGTGAAGA[A/G]GAGGAGCAGCCACTGCAGCGCGGTG 38155003 NCBI Build 36.2 Human 2p,2p22.2a,2p22.2,2p22,2p2 2 0 0 0 0 Homo sapiens C__27861789_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*30,c.66G>A|CYP21A2*30,g.66G>A A/G *23W MIM:201910 hCV27861789 Nonsense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 GCGCCCGCCTGCTGTGGAACTGGTG[A/G]AAGCTCCGGAGCCTCCACCTCCCGC 32114247 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__27861790_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*47,c.191G>A|CYP21A2*47,g.191G>A A/G E65G MIM:201910 hCV27861790 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 GGGCCCATCTACAGGCTCCACCTTG[A/G]GCTGCAAGGTGAGAGGCTGATCTCG 32114372 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__27861791_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*50,c.220A>T|CYP21A2*50,g.317A>T A/T K75* MIM:201910 hCV27861791 Nonsense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 CCCAGATGTGGTGGTGCTGAACTCC[A/T]AGAGGACCATTGAGGAAGCCATGGT 32114498 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__27861793_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*52,c.533G>C C/G A179G MIM:201910 hCV27861793 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 AGCATCATCTGTTACCTCACCTTCG[C/G]AGACAAGATCAAGGTGCCTCACAGC 32115200 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C__27861798_10 CYP27A1 CTX|CP27|CYP27 A/G E145G MIM:606530 hCV27861798 Mis-sense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CGGGACCAGCACGACCTGACCTATG[A/G]GCCGTTCACCACGTGAGCTGGGGCC 219382722 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C__27861799_20 CYP27A1 CTX|CP27|CYP27 A/T K284* MIM:606530 hCV27861799 Nonsense Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 CTTCTCTGTTGCTTTCACAGGGAAG[A/T]AGCTGATTGATGAGAAGCTCGAAGA 219385896 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C__27861804_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T E125G MIM:609506 rs28934605 hCV27861804 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 AGAGAAGACTCACGCAGTGAGCAGT[C/T]CGCAAGCCCGCTGGCGGCAGCGGCG 56446069 NCBI Build 36.2 Human 12q,12q14.1,12q14,12q14.1a,12q1 12 0 0 0 0 Homo sapiens C__27861805_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/G T321R MIM:609506 hCV27861805 Mis-sense Mutation cytochrome P450, family 27, subfamily B, polypeptide 1 NM_000785 CACAGCACGGAGGGAGAACCTCACC[C/G]TGTCCACTCCCGCCAATAGCAACTC 56444805 NCBI Build 36.2 Human 12q,12q14.1,12q14,12q14.1a,12q1 12 0 0 0 0 Homo sapiens C______9342_20 ATP7A MK|MNK|RP3-465G10.1 C/T MIM:300011|PharmGKB:PA72 hCV9342 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 AAAAAAGCCAGGTGTAAAATCCATA[C/T]GAGTCTCCCTTGCAAATAGCAATGG 77131999 NCBI Build 36.2 Human Xq,Xq21,Xq21.1a,Xq2,Xq21.1 X 0 0 0 0 Homo sapiens C_______401_20 TPMT A/G S49L MIM:187680|PharmGKB:PA356 hCV401 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 AAGGAAAGTATCTAAATGCTTCTTT[A/G]ATAGCCTGAAGAGGAAAAAAAAAAA 18256120 NCBI Build 36.2 Human 6p,6p22.3d,6p22,6p22.3,6p2 6 0 0 0 0 Homo sapiens C__32407240_20 CYP2D6 CPD6|CYP2D|CYP2D@|CYP2DL1|P450C2D|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 CYP2D6*30,g.1863_1864insTTTCGCCCC|CYP2D6*40,g.1863_1864ins(TTTCGCCCC)2|CYP2D6*58,g.1863_1864insTTTCGCCCC GGGGCGAAAGGGGCGAAA/- | MIM:124030|PharmGKB:PA128 hCV32407240 | cytochrome P450, family 2, subfamily D, polypeptide 6 NM_000106|NM_001025161 TGTCCAAGAGACCGTT[GGGGCGAAAGGGGCGAAA/-]GGGGCGAAAGGGGCGTC 40854874 NCBI Build 36.2 Human 22q,22q13.2b,22q13.2,22q13,22q1 22 0 .01 0 0 Homo sapiens C_____12338_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T P315S|P315S MIM:609523 hCV12338 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CATTTTGTTTATTTTCTTTTTAGCC[C/T]CAACAGTACTTACCGATGTTGATCC 19507240 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C_____12339_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/T N279Y|N279Y MIM:609523 hCV12339 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 AGAAAATATAAAAGAGTCTCCTGAT[A/T]ATGAAAGGATCATCAATCTTCGTCA 19505068 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C_____14532_30 FMO1 C/T MIM:136130 rs7877 hCV14532 UTR 3 flavin containing monooxygenase 1 NM_002021 TAATGCTAGAGAATGATAACTAAGA[C/T]TTCTGTGCATTTGAAGGTTGTTGGA 169521514 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 .27 .33 .29 .19 Homo sapiens C_____14533_30 FMO1 C/T MIM:136130 rs12954 hCV14533 UTR 3 flavin containing monooxygenase 1 NM_002021 ATAAACTGTATTCAAATAGTAAAGG[C/T]CACCCTCTCGCTTCCCTGGCTGGCC 169521418 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 .13 .07 .29 .13 Homo sapiens C_____14938_30 EPHX1 MEH|EPHX|EPOX C/T H113Y MIM:132810|PharmGKB:PA27829 rs1051740 hCV14938 Mis-sense Mutation epoxide hydrolase 1, microsomal (xenobiotic) NM_000120 GAAGCAGGTGGAGATTCTCAACAGA[C/T]ACCCTCACTTCAAGACTAAGATTGA 224086256 NCBI Build 36.2 Human 1q,1q42.12c,1q42.12,1q42.1,1q42,1q4 1 .27 .23 .44 .47 Homo sapiens C_____17312_20 ATP7A MK|MNK|RP3-465G10.1 A/G MIM:300011|PharmGKB:PA72 hCV17312 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TATCATTCCTATATTGCAGTTTTTC[A/G]GAGGCTGGTACTTCTACATTCAGGC 77155038 NCBI Build 36.2 Human Xq,Xq21,Xq21.1a,Xq2,Xq21.1 X 0 0 0 0 Homo sapiens C_____17683_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/C C494F|C428F MIM:610613 hCV17683 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GATGGCTCTGAAGGTGAGGAGGGGG[A/C]ACATGCTGGGCCTCAATATGAAGCT 143952822 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 0 0 0 Homo sapiens C_____19567_20 TPMT C/T Y240C MIM:187680|PharmGKB:PA356 rs1142345 hCV19567 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 TCTCATTTACTTTTCTGTAAGTAGA[C/T]ATAACTTTTCAAAAAGACAGTCAAT 18238897 NCBI Build 36.2 Human 6p,6p22.3d,6p22,6p22.3,6p2 6 .03 .08 .03 .01 Homo sapiens C_____19569_20 TPMT C/T H215R MIM:187680|PharmGKB:PA356 hCV19569 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 AAAAGCATCAACCTTCTCAAGACAA[C/T]GTATATTGCATATTTTACCTGAAAC 18238972 NCBI Build 36.2 Human 6p,6p22.3d,6p22,6p22.3,6p2 6 0 0 0 0 Homo sapiens C______2864_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 C/T MIM:601107|PharmGKB:PA116 hCV2864 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 AAATCTTAGTGGGGGTCAGAAGCAG[C/T]GGATCAGCCTGGCCAGAGCTACCTA 101568567 NCBI Build 36.2 Human 10q,10q24.2c,10q24.2,10q24,10q2 10 0 0 0 0 Homo sapiens C______4028_20 UGT2B11 MGC129611|MGC129612 A/G P289L MIM:603064 rs3890590 hCV4028 Mis-sense Mutation UDP glucuronosyltransferase 2 family, polypeptide B11 NM_001073 AACCAACAAAAGTATGTTTACCTTA[A/G]GTAGGGGTTTGGCAGGTTTGCAGTG 70112884 NCBI Build 36.2 Human 4q,4q13.2c,4q13.2,4q13,4q1 4 0 0 0 0 Homo sapiens C______5842_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 A/G R1153C MIM:603201|PharmGKB:PA374 hCV5842 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 TGGGAAACAATTCCAATGTTTGAGC[A/G]GAGGAACTGGACATTTACTTTTTTG 169492073 NCBI Build 36.2 Human 2q,2q24.3f,2q24.3,2q24,2q2 2 0 0 0 0 Homo sapiens C______7825_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T Q1268R MIM:603201|PharmGKB:PA374 hCV7825 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 GCGATGGGCAATGACAATGCAGGTC[C/T]GACCCTCTCTGGCTTTGTCTAGAGC 169488541 NCBI Build 36.2 Human 2q,2q24.3f,2q24.3,2q24,2q2 2 0 0 0 0 Homo sapiens C______9263_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T S419F|S419F MIM:609523 hCV9263 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CACGGAAAACATAGTTTTGATACTT[C/T]TTCTCATCAGCGTCCCTGTTTATTA 19515674 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C______9265_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G K447E|K447E MIM:609523 hCV9265 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CAGATATCCTCCCAACAGCCAGTCA[A/G]AGGTGGATTGGGGAAAATTTTTTCT 19515757 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C__31107031_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 C/T I353V|I355V| MIM:602883|PharmGKB:PA328 rs11568578 hCV31107031 Mis-sense Mutation|Mis-sense Mutation| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 AAAACAAACATACCCATTAGAAAGA[C/T]TGCATCTGAAGATGATATTCCATAT 21341617 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__31107032_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G P321L|P323L| MIM:602883|PharmGKB:PA328 rs11568579 hCV31107032 Mis-sense Mutation|Mis-sense Mutation| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 TGCATTGAACTGTATCACACTTACA[A/G]GTATGAAAAGCATATAAATTGGATT 21341712 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__31107047_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G R166C|R168C| MIM:602883|PharmGKB:PA328 rs11568564 hCV31107047 Mis-sense Mutation|Mis-sense Mutation| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 AGGATGGGAGTTTCACCCATTCCAC[A/G]TACAATATTGCCTACTAGGACGTAC 21348715 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__31107052_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/T N133I|N135I| MIM:602883|PharmGKB:PA328 rs11568566 hCV31107052 Mis-sense Mutation|Mis-sense Mutation| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 CGTTGGTCTTAAAATCTGGGTTCCA[A/T]TTTCCATACACAAGAAACTGTTTGA 21351121 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__31107109_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G |S17S| MIM:602883|PharmGKB:PA328 rs11568572 hCV31107109 |Silent Mutation| solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 TACAAAAATTCCATACCTTCAACTT[A/G]GAAAGACATCTTATTCTATGGGTTT 21378798 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 .01 Homo sapiens C__31107179_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G || MIM:602883|PharmGKB:PA328 rs10841803 hCV31107179 || solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 GGAAGATGATGATAGTAACATAGCA[A/G]GCACTTCACAAAGCACCGTAAGTGT 21439142 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 .16 .16 .25 .48 Homo sapiens C__31107180_20 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G || MIM:602883|PharmGKB:PA328 rs10841804 hCV31107180 || solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 TTCATCTCACTAGGGAGTGCCAGAC[A/G]ATGGGCGCAGGTCAGTGGGTGCGCG 21439342 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 .11 .1 .24 .49 Homo sapiens C__31107182_50 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 G/T || MIM:602883|PharmGKB:PA328 rs12816889 hCV31107182 || solute carrier organic anion transporter family, member 1A2 NM_005075|NM_021094|NM_134431 TTTCTGAGTCAAAGAAAGGGGTGAC[G/T]GACGCACCTGGAAAATCGGGTCACT 21439463 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 .21 .07 .07 .03 Homo sapiens C__31107705_10 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 C/T || MIM:601439|PharmGKB:PA396 rs12298510 hCV31107705 || ATP-binding cassette, sub-family C (CFTR/MRP), member 9 NM_005691|NM_020297|NM_020298 ACGTACCGTCCTGACCTCCAGCCAT[C/T]TGTTGGCAGCTGAGAGAAATAAGTA 21873178 NCBI Build 36.2 Human 12p1,12p12,12p12.1e,12p12.1,12p 12 0 0 0 0 Homo sapiens C__31115191_10 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 C/T L105L MIM:100650|PharmGKB:PA24696 rs13306164 hCV31115191 Silent Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 GGACGCATCACACAGGGGCCGGCTG[C/T]TGAACCGCCTGGCCGATCTGATCGA 110705438 NCBI Build 36.2 Human 12q2,12q24,12q24.1,12q24.12,12q24.12b,12q 12 0 0 .01 .03 Homo sapiens C__31140777_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 G/T I206L MIM:603756|PharmGKB:PA390 rs12721643 hCV31140777 Mis-sense Mutation ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 GTTGTAGGCTCATCCAAGAACAAGA[G/T]GGAAGGATCAGTGATAAGCTCCATT 89261884 NCBI Build 36.2 Human 4q2,4q22,4q22.1,4q22.1b,4q 4 0 0 0 0 Homo sapiens C__31140785_60 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 A/G S38S MIM:603756|PharmGKB:PA390 rs12721640 hCV31140785 Silent Mutation ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 TTACTCGATAGCAGATGTTATGAAA[A/G]CTTAACACAGCTCCTTCAGTAAATG 89280058 NCBI Build 36.2 Human 4q2,4q22,4q22.1,4q22.1b,4q 4 0 0 0 0 Homo sapiens C__11753308_20 CHST3 C6ST|C6ST1 C/T MIM:603799 rs4148949 hCV11753308 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 CTAGGGGCCCTGCTAATGTGGACAG[C/T]AGACTTTATCCCTCCTTCTTACTCT 73440657 NCBI Build 36.2 Human 10q2,10q22.1,10q22,10q22.1e,10q 10 .35 .19 .36 .34 Homo sapiens C__11711719_20 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/T I829V MIM:171050|PharmGKB:PA267 rs2032581 hCV11711719 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GTAATTACAGCAAGCCTGGAACCTA[C/T]AGCCTGCAAAACAAAACAAATTAGA 86998746 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__11711718_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/G MIM:171050|PharmGKB:PA267 rs2032588 hCV11711718 Intron ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GCAACATCAGAAAGATGTGCAATGT[A/G]ACTGCTGATCACCGCAGGGTCTAGC 87017379 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .07 .16 0 0 Homo sapiens C__11711729_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/T MIM:171050|PharmGKB:PA267 rs17064 hCV11711729 UTR 3 ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GAAATGTTAAACAGATACCTCTTCA[A/T]AATTCTGTAAGTGTTTGCTTTTAAC 86971406 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 .08 .1 0 0 Homo sapiens C__11711731_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G || MIM:171060|PharmGKB:PA268 rs1922239 hCV11711731 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 GAAAGAAGGCTTGTGGTGACTGGAG[C/G]ACATTATTAAACTCATTAGCACATA 86944750 NCBI Build 36.2 Human 7q2,7q21,7q21.1,7q21.12,7q21.12a,7q 7 0 0 0 0 Homo sapiens C__11731855_20 COMT G/T A72S|A22S MIM:116790|PharmGKB:PA117 rs6267 hCV11731855 Mis-sense Mutation|Mis-sense Mutation catechol-O-methyltransferase NM_000754|NM_007310 GCTGCAGCATGCGGAGCCCGGGAAC[G/T]CACAGAGCGTGCTGGAGGCCATTGA 18330263 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.21,22q11.21c,22q 22 0 0 .1 .01 Homo sapiens C__11731859_10 COMT G/C S34C| MIM:116790|PharmGKB:PA117 rs6270 hCV11731859 Mis-sense Mutation|UTR 5 catechol-O-methyltransferase NM_000754|NM_007310 CTGAGGCACTGGGGCTGGGGCCTGT[G/C]CCTTATCGGCTGGAACGAGTTCATC 18330150 NCBI Build 36.2 Human 22q11,22q1,22q11.2,22q11.21,22q11.21c,22q 22 0 0 0 0 Homo sapiens C__11741507_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/C MIM:603377|PharmGKB:PA333 rs1045018 hCV11741507 UTR 5 solute carrier family 22 (organic cation transporter), member 5 NM_003060 CACGCGCAAAGCCCGCCGCGTTCCC[A/C]GACCCCAGGCCGCGCTCTGTGGGCC 131733526 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__11741534_20 SLC22A4 OCTN1|MGC34546|MGC40524 C/G G471G MIM:604190|PharmGKB:PA332 rs10479002 hCV11741534 Silent Mutation solute carrier family 22 (organic cation transporter), member 4 NM_003059 TCACATCCACGGCCTCCAGAGTGGG[C/G]AGCATCATTGCCCCCTACTTTGTTT 131699561 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 .11 .02 0 0 Homo sapiens C__11741850_20 GSTO1 P28|GSTTLp28|DKFZp686H13163 A/G E144E MIM:605482 rs1804834 hCV11741850 Silent Mutation glutathione S-transferase omega 1 NM_004832 AAGAAGACTATGCTGGCCTAAAAGA[A/G]GAATTTCGTAAAGAATTTACCAAGC 106012792 NCBI Build 36.2 Human 10q2,10q25,10q25.1,10q25.1a,10q 10 0 0 0 0 Homo sapiens C__11741851_80 GSTO1 P28|GSTTLp28|DKFZp686H13163 A/C N217T MIM:605482 rs15032 hCV11741851 Mis-sense Mutation glutathione S-transferase omega 1 NM_004832 GATCCCACAGTCTCAGCCCTGCTTA[A/C]TAGTGAGAAAGACTGGCAAGGTTTC 106017077 NCBI Build 36.2 Human 10q2,10q25,10q25.1,10q25.1a,10q 10 0 0 0 0 Homo sapiens C__11741852_20 GSTO1 P28|GSTTLp28|DKFZp686H13163 A/G MIM:605482 rs7589 hCV11741852 UTR 3 glutathione S-transferase omega 1 NM_004832 GAGGCCTGTGACTATGGGCTCTGAA[A/G]GGGGCAGGAGTCAGCAATAAAGCTA 106017155 NCBI Build 36.2 Human 10q2,10q25,10q25.1,10q25.1a,10q 10 0 .31 0 0 Homo sapiens C__11741943_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T R351W MIM:603377|PharmGKB:PA333 hCV11741943 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 GGTCACCATCATGTCCATAATGCTG[C/T]GGTATGTAAAAGAGACCTGCCTGAG 131752611 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__11741945_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/C D301A MIM:603377|PharmGKB:PA333 hCV11741945 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 GCAGAGGTGATCATCCGCAAGGCTG[A/C]CAAAGCCAATGGGATTGTTGTGCCT 131750693 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__11742072_10 UGT1A8 UDPGT|UGT1H UGT1A8*2,c.518C>G|UGT1A8*2,c.518G>C|UGT1A8*2,g.518G>C C/G MIM:606433|PharmGKB:PA37183 rs1042597 hCV11742072 UDP glucuronosyltransferase 1 family, polypeptide A8 NM_019076 TCTGTGGTCTTCGCCAGGGGAATAG[C/G]TTGCCACTATCTTGAAGAAGGTGCA 234191610 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .24 .08 .47 .41 Homo sapiens C__11742263_10 UGT1A3 UGT1C UGT1A3*2b,g.477A>G|UGT1A3*3b,g.477A>G|UGT1A3*5,g.477A>G A/G |A159A MIM:606428 rs7574296 hCV11742263 Intron|Silent Mutation UDP glucuronosyltransferase 1 family, polypeptide A3 NM_007120|NM_019093 CAGACCCCGTTAACCTCTGCGCGGC[A/G]GTGCTGGCTAAGTACCTGTCGATTC 234302988 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .5 .22 .25 .32 Homo sapiens C__16193338_40 SLCO1B1 LST-1|OATP2|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G MIM:604843|PharmGKB:PA35842 rs2306282 hCV16193338 solute carrier organic anion transporter family, member 1B1 NM_006446 TTAATTAATCAAATTTTATCACTCA[A/G]TAGAGCATCACCTGAGATAGTGGGA 21221069 NCBI Build 36.2 Human 12p,12p12.1,12p12.1e,12p12,12p1 12 0 0 0 0 Homo sapiens C__16196679_30 FMO2 FLJ40826|FMO1B1 C/T S182F MIM:603955 rs2307492 hCV16196679 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CGCCAATACAAGCATCCAGATGGAT[C/T]TGAGGGAAAACGCATCCTGGTGATT 169435169 NCBI Build 36.2 Human 1q2,1q24,1q24.3,1q24.3a,1q 1 .09 .14 .02 .02 Homo sapiens C__16230575_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T L189F MIM:603377|PharmGKB:PA333 rs2405518 hCV16230575 Mis-sense Mutation solute carrier family 22 (organic cation transporter), member 5 NM_003060 GACAGGCTTCAGCTTCCTGCAGATC[C/T]TCTCGAAGAATTTTGAGATGTTTGT 131747805 NCBI Build 36.2 Human 5q31,5q31.1,5q3,5q31.1b,5q 5 0 0 0 0 Homo sapiens C__26204088_30 CYP11A1 CYP11A|P450SCC C/T | MIM:118485 rs1130841 hCV26204088 | cytochrome P450, family 11, subfamily A, polypeptide 1 NM_000781|NM_001099773 CCTGGGGGCACTCAGAAAGGTCTGG[C/T]AGCCTTTGACCAGGACTGAGCGTGG 72446933 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C__26236586_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/T | MIM:610613 rs1137487 hCV26236586 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 CTCGGGACCTTCCCCAGGGGACAGC[A/T]CAGGAAGCAGAGGACCCAACACCCA 143952076 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 .01 Homo sapiens C__26236588_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/G | MIM:610613 rs1137485 hCV26236588 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GGAAGCAGAGGACCCAACACCCACT[C/G]CTGGAACAAGGCCTGGTCCATGAAA 143952104 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236589_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G | MIM:610613 rs1137484 hCV26236589 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 ACCCAACACCCACTCCTGGAACAAG[A/G]CCTGGTCCATGAAAGATGAGGCCTG 143952115 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236590_30 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs1137483 hCV26236590 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GGAACAAGGCCTGGTCCATGAAAGA[C/T]GAGGCCTGGGGCATGAGGCTGACAC 143952132 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236591_30 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs5302 hCV26236591 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TCCATGAAAGATGAGGCCTGGGGCA[C/T]GAGGCTGACACGATCAGCTGGGGAA 143952146 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236592_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs1137481 hCV26236592 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TGAGGCCTGGGGCATGAGGCTGACA[C/T]GATCAGCTGGGGAACACACGTCCCT 143952157 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 .01 0 0 Homo sapiens C__26236593_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs1137480 hCV26236593 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GACACGATCAGCTGGGGAACACACG[C/T]CCCTCGAGACTCAGTTGTATCACTT 143952178 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236594_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs5301 hCV26236594 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TACCCTGCAGGACCCTATTCCAGGG[C/T]GACAACTTTCAGAGAGCTCAGGGCA 143952275 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 .48 .4 .15 .13 Homo sapiens C__26236595_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 G/T | MIM:610613 rs5300 hCV26236595 UTR 3|UTR 3 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 AGGGGTCAGGCTGCAGGAGGGAACT[G/T]GACTGGACTCTGAGATGCTGGGATC 143952340 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236596_50 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G T477T|T411T MIM:610613 rs5296 hCV26236596 Silent Mutation|Silent Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TGTAGACCATCTTTATGTCCTCTTG[A/G]GTTAGTGTCTCCACCTGGAGGTGTT 143952872 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236597_40 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G L451L| MIM:610613 rs5316 hCV26236597 Silent Mutation|Intron cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TCTCTGCCTCTGCCAGGCGCCGCCC[A/G]AGGCACTGGCGCATGCCAAAGCCAA 143953420 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 .02 0 0 Homo sapiens C__26236612_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T N281S|N281S MIM:610613 rs5291 hCV26236612 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 GATGCTGGTGTACTGTTGAGGGCGG[C/T]TGAAGGCCAGTTCCTGATAGATTTT 143954771 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 0 0 0 Homo sapiens C__26236620_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/G I160M|I160M MIM:610613 rs5287 hCV26236620 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 AGAAGTCCCTGGCCACTGCATCCAC[C/G]ATCGGGAGGAACCTCTGCACAGCGT 143955556 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 0 0 0 Homo sapiens C__26236630_40 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G D96D|D96D MIM:610613 rs5284 hCV26236630 Silent Mutation|Silent Mutation cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 TGTCCACCTGTTGCAGCTTCTCCAC[A/G]TCCTCCGGCAGCATCACACACACCA 143957557 NCBI Build 36.2 Human 8q,8q24.3f,8q24.3,8q24,8q2 8 0 0 0 0 Homo sapiens C__26236635_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | MIM:610613 rs6389 hCV26236635 UTR 5|UTR 5 cytochrome P450, family 11, subfamily B, polypeptide 1 NM_000497|NM_001026213 CTCTGCCTTTGCCCTGAGTGCCATT[C/T]CAATGCTCCCTCCACCCTGTTCAGC 143958233 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236672_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/T MIM:124080|PharmGKB:PA134 rs5312 hCV26236672 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 CACCAAGTCTGAGCTCACCACTCGC[A/T]CCAAAAACAGACCCACAGGGTAGAG 143991277 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236680_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/G MIM:124080|PharmGKB:PA134 rs5310 hCV26236680 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 GAGGGCGGTTGAAGGCCAGTTCCTG[A/G]TAGATTTTCTGGATACAGTTGTCAC 143992811 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__26236693_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/G MIM:124080|PharmGKB:PA134 hCV26236693 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498 CACACACCATGCGTGGTCCTCCCAA[A/G]TTGTACCTGTGGGGCCAAGCAGGAG 143995626 NCBI Build 36.2 Human 8q2,8q24,8q24.3,8q24.3f,8q 8 0 0 0 0 Homo sapiens C__25610851_20 SLC15A1 PEPT1|HPECT1|HPEPT1 A/G MIM:600544|PharmGKB:PA323 rs8187836 hCV25610851 solute carrier family 15 (oligopeptide transporter), member 1 NM_005073 TATTCAAAACTTTAATTTGGACTTC[A/G]TTTCCTTTGGGGAAGACTGGAAGAG 98156479 NCBI Build 36.2 Human 13q3,13q32,13q32.3a,13q32.3,13q 13 0 .02 0 0 Homo sapiens C__25611224_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757 C/G L490L MIM:604323|PharmGKB:PA376 rs11568602 hCV25611224 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NM_003786 AATTGAAGGACTCGCGCATCAAGCT[C/G]ATGAGTGAGATCCTGAACGGCATCA 46099952 NCBI Build 36.2 Human 17q21,17q2,17q21.3,17q21.33,17q21.33b,17q 17 .01 .05 0 0 Homo sapiens C__25611237_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757 A/G K258E MIM:604323|PharmGKB:PA376 hCV25611237 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NM_003786 CCAGATGGTGGTGCAGCAGCTGCTG[A/G]AGGCATGGAGGAAGCAGGAAAAGCA 46091694 NCBI Build 36.2 Human 17q21,17q2,17q21.3,17q21.33,17q21.33b,17q 17 .01 0 0 0 Homo sapiens C__25611238_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757 C/T T809M MIM:604323|PharmGKB:PA376 rs34675700 hCV25611238 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NM_003786 TCTCCCCAGACGCGAGTGCTGGTGA[C/T]GCACGGCATTAGCTTCCTGCCCCAG 46105845 NCBI Build 36.2 Human 17q21,17q2,17q21.3,17q21.33,17q21.33b,17q 17 .01 0 0 0 Homo sapiens C__25611279_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T K827R MIM:605250|PharmGKB:PA397 hCV25611279 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 CAAATCATCCAAGTGTCCAATGTCT[C/T]TGGAGAAACGATTTAAAATTCTTCC 94566232 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 .01 0 0 Homo sapiens C__25611283_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T M744V MIM:605250|PharmGKB:PA397 rs9282570 hCV25611283 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 CCTCCATTTACAGTGACATTTAGCA[C/T]ACTTTGTTTGTTTGCCCTATGGAAC 94613455 NCBI Build 36.2 Human 13q,13q32.1,13q32,13q32.1a,13q3 13 .01 .03 0 0 Homo sapiens C__25611298_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T K498E MIM:605250|PharmGKB:PA397 rs11568669 hCV25611298 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TTTTCATATCGTTCCTTTTCGTATT[C/T]CTTCCCAAATAAAATATTACTCCTC 94637009 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 .02 0 0 Homo sapiens C__25611309_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G P403L MIM:605250|PharmGKB:PA397 rs11568705 hCV25611309 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 ATGCACCATCTTTTTACCATCTGAC[A/G]GCAGCTGACGGTTGCGCTGTGATAT 94645146 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 .02 0 0 Homo sapiens C__25611322_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T P1258P MIM:605250|PharmGKB:PA397 rs11568704 hCV25611322 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TCTCTTTATTTTGCAGCAAAACATA[C/T]GGCTCATCATATTCTTTCAGTCTTC 94484956 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 .02 0 0 Homo sapiens C__25611330_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G Y985Y MIM:605250|PharmGKB:PA397 hCV25611330 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 GAAACATCCCCATGAGCGTGAGGGC[A/G]TAGGACAGTGCCAAACCAACCTGCC 94523522 NCBI Build 36.2 Human 13q3,13q32.1a,13q32,13q32.1,13q 13 0 0 0 0 Homo sapiens C__25613900_30 CES2 iCE|CE-2|PCE-2|CES2A1 C/T A394A|A394A MIM:605278|PharmGKB:PA377 hCV25613900 Silent Mutation|Silent Mutation carboxylesterase 2 (intestine, liver) NM_003869|NM_198061 ACCCCCAGGAGCTGCTGGCCTCTGC[C/T]GACTTTCAGCCTGTCCCTAGCATTG 65532984 NCBI Build 36.2 Human 16q2,16q22.1a,16q22,16q22.1,16q 16 0 0 0 0 Homo sapiens C__25613901_10 CES2 iCE|CE-2|PCE-2|CES2A1 A/G N42D|N42D MIM:605278|PharmGKB:PA377 hCV25613901 Mis-sense Mutation|Mis-sense Mutation carboxylesterase 2 (intestine, liver) NM_003869|NM_198061 CAAGGCACTGATCCACTGCTGGACA[A/G]ACCCGGGGCAGCCTCTGGGTGAACA 65526971 NCBI Build 36.2 Human 16q2,16q22.1a,16q22,16q22.1,16q 16 0 0 0 0 Homo sapiens C__25614338_30 TYMS TS|TMS|TSase|HsT422|MGC88736 C/G Q100E MIM:188350|PharmGKB:PA359 hCV25614338 Mis-sense Mutation thymidylate synthetase NM_001071 CTTCCAGGGATCCACAAATGCTAAA[C/G]AGCTGTCTTCCAAGGGAGTGAAAAT 652164 NCBI Build 36.2 Human 18p1,18p11.3,18p11.32c,18p11,18p11.32,18p 18 .01 0 0 0 Homo sapiens C__25614349_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T |||| MIM:158343|PharmGKB:PA244 rs8187858 hCV25614349 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TGGCCTTGTGCACATTTGCCGTCTA[C/T]GTGACCATTGACGAGAACAACATCC 16069540 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 .12 .05 0 0 Homo sapiens C__25614385_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G |||| MIM:158343|PharmGKB:PA244 rs4148356 hCV25614385 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GCCTGGATTCAGAATGATTCTCTCC[A/G]AGAAAACATCCTTTTTGGATGTCAG 16084776 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 0 .11 .07 Homo sapiens C__25614424_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G |||| MIM:158343|PharmGKB:PA244 rs35934123 hCV25614424 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TTTTCATGTGTAACCATGTGTCCGC[A/G]CTGGCTTCCAACTATTGGCTCAGCC 16112828 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 0 0 0 Homo sapiens C__25614425_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/G |||| MIM:158343|PharmGKB:PA244 rs13337489 hCV25614425 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 ATCGGGGGGATCTTGGCTTCCCGCT[C/G]TCTGCACGTGGACCTGCTGCACAGC 16116184 NCBI Build 36.2 Human 16p13,16p1,16p13.1,16p13.11,16p13.11a,16p 16 0 .08 0 0 Homo sapiens C__11977294_20 CYP2A13 CPAD|CYP2A CYP2A13*1H,g.2366C>T C/T MIM:608055 rs1645691 hCV11977294 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 TCAGCTCAGCTCTCTCACCTGGGCA[C/T]ATGTTCCCATCCCCAACTTACCGTA 46288582 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 .13 0 .01 Homo sapiens C__11977295_10 CYP2A13 CPAD|CYP2A CYP2A13*1D,g.1757A>G|CYP2A13*1H,g.1757A>G|CYP2A13*2A,g.1757A>G|CYP2A13*2B,g.1757A>G|CYP2A13*3,g.1757A>G A/G MIM:608055 rs1645690 hCV11977295 Intron cytochrome P450, family 2, subfamily A, polypeptide 13 NM_000766 AGGGGACCCCGAGTGCGAGGGCGGG[A/G]ACCCGCGCTTTCTGCCTGGGGATGG 46287973 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .06 .47 .06 .07 Homo sapiens C__11977870_10 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 A/G R311C|R260C MIM:608054 rs3869579 hCV11977870 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 7 NM_000764|NM_030589 TTCATGAGCAGCAAGAAGCCATAGC[A/G]CAGGGTGGTGCTGACCGTCTCGGTG 46075639 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .44 .45 .41 .47 Homo sapiens C__11977885_10 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 C/T | MIM:608054 rs1060087 hCV11977885 UTR 3|UTR 3 cytochrome P450, family 2, subfamily A, polypeptide 7 NM_000764|NM_030589 TCTTCCGCGAACCCCGCCCTGACCC[C/T]GCCTTTCCCTGGCCCCGCCCACCAG 46073389 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 0 0 0 Homo sapiens C__11977892_20 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 A/G | MIM:608054 rs1060092 hCV11977892 UTR 3|UTR 3 cytochrome P450, family 2, subfamily A, polypeptide 7 NM_000764|NM_030589 TCCCGCATCTTCCCCCCATTCTTAT[A/G]CCCGCCTCTTCCGCGAACCCCGCCC 46073357 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 0 0 0 0 Homo sapiens C__11985548_10 DPYD DHP|DPD|MGC70799|MGC132008 A/C MIM:274270|PharmGKB:PA145 hCV11985548 dihydropyrimidine dehydrogenase NM_000110 CCATCCAGCTTCAAAAGCTCTTCGA[A/C]TCATTGATGTGCTGGTGGCTGGAGT 97753931 NCBI Build 36.2 Human 1p2,1p21,1p21.3,1p21.3b,1p 1 0 0 0 0 Homo sapiens C__11990778_30 UGT2B4 UGT2B11 C/T MIM:600067 rs1845555 hCV11990778 UDP glucuronosyltransferase 2 family, polypeptide B4 NM_021139 CAATTACATTGGCCCTTTCTTCTGA[C/T]GTGTTACTGACCATCGACCCCAGAG 70389800 NCBI Build 36.2 Human 4q1,4q13,4q13.2,4q13.2c,4q 4 0 0 0 0 Homo sapiens C__12017839_20 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 A/G MIM:604988 rs1944612 hCV12017839 UTR 5 solute carrier organic anion transporter family, member 2B1 NM_007256 CTGCTAAGCTCCAGGTCCTGAGATT[A/G]AATTAGGGGCTGGAGCTCACTGCAC 74540039 NCBI Build 36.2 Human 11q1,11q13,11q13.4,11q13.4c,11q 11 0 0 .09 .13 Homo sapiens C__12022445_20 ALDH7A1 EPD|PDE|ATQ1 A/C G469V MIM:107323 hCV12022445 Mis-sense Mutation aldehyde dehydrogenase 7 family, member A1 NM_001182 GCCACCACCAGTGTGCTTTTCTCCT[A/C]CTAGAGAAATAAAAAATAATATCAT 125909990 NCBI Build 36.2 Human 5q2,5q23,5q23.2,5q23.2e,5q 5 0 0 0 0 Homo sapiens C__12027651_30 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 G/T E210A MIM:138360 rs6577 hCV12027651 Mis-sense Mutation glutathione S-transferase A2 NM_000846 CTTCCTTGATTCTTCTAAAGATTTC[G/T]CATCCATGGGAGGCTTCCTTGGGCT 52723374 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 .1 .33 .26 .2 Homo sapiens C__12027652_20 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 C/T MIM:138360 rs2266632 hCV12027652 UTR 3 glutathione S-transferase A2 NM_000846 CTTTAGAATACTGGTCTTGCATGTT[C/T]TTGACCTCTATGGCTGGTTTATTAA 52723312 NCBI Build 36.2 Human 6p,6p12.1,6p12.1d,6p1,6p12 6 0 .04 0 0 Homo sapiens C__12027714_50 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 A/G P110S MIM:138360 rs2234951 hCV12027714 Mis-sense Mutation glutathione S-transferase A2 NM_000846 TCTTGTTCCTCAGGTTGACTAAAGG[A/G]CAGAAGAAGGATCATTTCACCCAAA 52725697 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 .02 .01 .08 .1 Homo sapiens C__12027717_30 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 A/T MIM:138360 rs2234952 hCV12027717 UTR 3 glutathione S-transferase A2 NM_000846 GAAATCAATTTTAACTAAGTGGGTG[A/T]ATAGGAGTTGTATTATTTAATTAGC 52723185 NCBI Build 36.2 Human 6p12,6p1,6p12.1d,6p12.1,6p 6 0 .04 0 0 Homo sapiens C__12063811_30 CYP11A1 CYP11A|P450SCC A/G | MIM:118485 rs6160 hCV12063811 | cytochrome P450, family 11, subfamily A, polypeptide 1 NM_000781|NM_001099773 TCCCCTGGCGCTCCCCAAAAATGAC[A/G]TTAGTGATGGCTGCAGGGAGAGGAA 72423376 NCBI Build 36.2 Human 15q2,15q24.1,15q24,15q24.1b,15q 15 0 0 0 0 Homo sapiens C__12077301_30 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 A/G |A395A MIM:605251 rs1132776 hCV12077301 |Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 5 NM_001023587|NM_005688 CCACAGTGATGCTCTGGAAGTACCC[A/G]GCTTTTTCCAATATCCGACGCTCCT 185179096 NCBI Build 36.2 Human 3q,3q27.1b,3q27.1,3q27,3q2 3 .44 .3 .22 .15 Homo sapiens C__12091550_20 TPMT C/T MIM:187680|PharmGKB:PA356 rs1800584 hCV12091550 Acceptor Splice Site thiopurine S-methyltransferase NM_000367 AGACAACGTATATTGCATATTTTAC[C/T]TGAAACAAGAAAGAGTAACATGTTA 18238991 NCBI Build 36.2 Human 6p2,6p22.3,6p22,6p22.3d,6p 6 0 0 0 0 Homo sapiens C__12091552_30 TPMT C/G P80A MIM:187680|PharmGKB:PA356 rs1800462 hCV12091552 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 CCAACTACACTGTGTCCCCGGTCTG[C/G]AAACCTGCATAAAATCATACATTTA 18251934 NCBI Build 36.2 Human 6p,6p22.3d,6p22,6p22.3,6p2 6 0 0 0 0 Homo sapiens C__12100556_20 ARS2 ARS2|ASR2|MGC126427 A/C Q71H| rs9735 hCV12100556 Mis-sense Mutation|UTR 5 ARS2 protein NM_015908|NM_182800 GAGAGCGCTTCTCGCCACCTCGCCA[A/C]GAACTCAGCCCGCCACAGAAGCGCA 100316932 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1c,7q 7 0 0 0 0 Homo sapiens C__12118534_30 ATP7A MK|MNK|RP3-465G10.1 C/G MIM:300011|PharmGKB:PA72 rs2227291 hCV12118534 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TGCCTACTCTTTGATTATTCTTCTA[C/G]TTGCAATGTATGAGAGAGCCAAAGT 77155158 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X .13 .26 .29 .3 Homo sapiens C__12118535_20 ATP7A MK|MNK|RP3-465G10.1 A/G MIM:300011|PharmGKB:PA72 rs2234936 hCV12118535 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 CTTCATTCTTCTATGTTCCTGGAGC[A/G]CCAGATTCTTCCAGGATTGTCTGTT 77153763 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X 0 0 0 0 Homo sapiens C__12118536_20 ATP7A MK|MNK|RP3-465G10.1 C/T MIM:300011|PharmGKB:PA72 rs2234935 hCV12118536 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TGTATTCCTGTAATGGGGCTGATGA[C/T]ATATATGATGGTTATGGACCACCAC 77153661 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X 0 0 0 .02 Homo sapiens C__12118538_20 ATP7A MK|MNK|RP3-465G10.1 C/T MIM:300011|PharmGKB:PA72 rs2234934 hCV12118538 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TCAGCCTTCATCGGAAATGCCGCTT[C/T]TGACTTCAACTAATGAATTTTATAC 77140684 NCBI Build 36.2 Human Xq21.1,Xq2,Xq21.1a,Xq21,Xq X 0 0 0 0 Homo sapiens C__25965826_10 ABCC12 MRP9|MGC27071 A/G T649M MIM:607041 hCV25965826 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CAGGACGACTGTCTTTCCCCTGAGC[A/G]TCTTCTTAATGCACTCCTCAAAGAC 46706870 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 0 0 0 Homo sapiens C__25966311_20 SLC10A1 NTCP|NTCP1 C/T MIM:182396 hCV25966311 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 NM_003049 CGATGCCTTTATAGGGCACCTTGTC[C/T]TTCAGGTCCCCATCATAGATCCCCC 69322681 NCBI Build 36.2 Human 14q2,14q24,14q24.2,14q24.2a,14q 14 .01 0 0 0 Homo sapiens C__25966457_20 ABCC12 MRP9|MGC27071 A/G A616A MIM:607041 rs9302750 hCV25966457 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GGTAGAGCTGACGGTCGGAGTAGAC[A/G]GCGCGGGCCAGGCTAATCCTCTGCC 46706968 NCBI Build 36.2 Human 16q,16q12.1a,16q12,16q12.1,16q1 16 0 .21 0 0 Homo sapiens C__25971678_30 SLC28A1 CNT1|HCNT1 A/C K237Q| MIM:606207|PharmGKB:PA387 rs8187758 hCV25971678 Mis-sense Mutation| solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 CATTGCGTTCGAGTGGCTGGGCGAG[A/C]AGATCCGGGTAGGTATGTGGGGTCT 83249879 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 .18 .15 .28 .25 Homo sapiens C__25972550_20 ABCC12 MRP9|MGC27071 A/G S898S MIM:607041 rs9925287 hCV25972550 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TGCCAGTGGGAGTCGTGTCAAAGAA[A/G]CTCATTGGGCTCTTTAAGATCTGTG 46695760 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .21 0 0 Homo sapiens C__25972585_20 ABCC12 MRP9|MGC27071 A/T K894M MIM:607041 rs8057474 hCV25972585 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CGTGTCAAAGAAACTCATTGGGCTC[A/T]TTAAGATCTGTGGAGAATGGTAGAG 46695773 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .07 0 0 Homo sapiens C__25972590_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM CYP19A1*3A,g.20538C>T|CYP19A1*3B,g.20538C>T A/G T201M|T201M MIM:107910 rs28757184 hCV25972590 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 GTCCAAAGGGATCCTCAAGAAGAGC[A/G]TGTTAGAGGTGTCCAGCATGACACG 49301864 NCBI Build 36.2 Human 15q21,15q2,15q21.2,15q21.2b,15q 15 .03 .06 0 0 Homo sapiens C__25972736_20 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860 UGT1A6*4b,c.627G>T|UGT1A6*4b,g.627G>T G/T | MIM:606431|PharmGKB:PA37181 rs17863783 hCV25972736 |Intron UDP glucuronosyltransferase 1 family, polypeptide A6 NM_001072|NM_205862 ACCACATGACTTTTTCCCAACGAGT[G/T]GCCAACTTCCTTGTTAATTTGTTGG 234267016 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 .01 .12 .01 .02 Homo sapiens C__25973247_20 ABCC12 MRP9|MGC27071 A/G D1223D MIM:607041 rs16945786 hCV25973247 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TCTCCAGAACCTGCCAGAGCATCTC[A/G]TCGGTGTGACTCTCAAAGGGATCCA 46678198 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .21 0 0 Homo sapiens C__25973452_20 ABCC12 MRP9|MGC27071 A/T L1349F MIM:607041 rs12373105 hCV25973452 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TGACTTCTGCTGCTAGTAACATCGC[A/T]AATGCAGAATCTGGCTTCTCTGCAA 46675160 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .01 .01 0 0 Homo sapiens C__25974204_20 UGT1A7 UDPGT|UGT1G C/G S141C MIM:606432|PharmGKB:PA37182 hCV25974204 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A7 NM_019077 TTAGTAGAATACTTAAAGGAGAGTT[C/G]TTTTGATGCAGTGTTTCTCGATCCT 234255744 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 0 0 0 Homo sapiens C__25981571_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010 C/T MIM:601107|PharmGKB:PA116 rs17216198 hCV25981571 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 NM_000392 CAATCCTTATCTTTAGGCATTGACC[C/T]TATCCAACTTGGCCAGGAAGGAGTA 101553775 NCBI Build 36.2 Human 10q2,10q24,10q24.2,10q24.2c,10q 10 0 .02 0 0 Homo sapiens C__25981922_20 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/G Y177Y MIM:601699 hCV25981922 Silent Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 GCGCCTCAATTCCGTAAAGAGTCAG[A/G]TAGCCGGCTCTGGGGGCGGCAGACA 47589656 NCBI Build 36.2 Human 20q,20q13.13d,20q13.13,20q13.1,20q13,20q1 20 .04 .04 0 0 Homo sapiens C__25982477_10 ALDH4A1 P5CD|ALDH4|P5CDh|P5CDhL|P5CDhS|RP11-128M10.1 A/G I248I|I248I MIM:606811 hCV25982477 Silent Mutation|Silent Mutation aldehyde dehydrogenase 4 family, member A1 NM_003748|NM_170726 TGGGGGGCAGGCCAGCCTCCCGAAG[A/G]ATGCGGTAGACAGCATAGCTGGCCA 19080903 NCBI Build 36.2 Human 1p3,1p36,1p36.13,1p36.1,1p36.13b,1p 1 0 .07 0 0 Homo sapiens C__25985082_10 ALDH4A1 P5CD|ALDH4|P5CDh|P5CDhL|P5CDhS|RP11-128M10.1 C/T P362P|P362P MIM:606811 hCV25985082 Silent Mutation|Silent Mutation aldehyde dehydrogenase 4 family, member A1 NM_003748|NM_170726 CCTCCAGCAGCCGCCCTTTGATCTG[C/T]GGCCACAGCGAGTGCGGCACGTAGA 19076548 NCBI Build 36.2 Human 1p3,1p36,1p36.13,1p36.1,1p36.13b,1p 1 .03 0 0 0 Homo sapiens C__25985104_20 ALDH4A1 P5CD|ALDH4|P5CDh|P5CDhL|P5CDhS|RP11-128M10.1 C/T R366G|R366G MIM:606811 hCV25985104 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 4 family, member A1 NM_003748|NM_170726 CGACTGTGCTCCTCCAGCAGCCGCC[C/T]TTTGATCTGCGGCCACAGCGAGTGC 19076538 NCBI Build 36.2 Human 1p3,1p36,1p36.13,1p36.1,1p36.13b,1p 1 .02 0 .03 .01 Homo sapiens C__25986462_10 ABCC13 PRED6|C21orf73 A/T MIM:608835 hCV25986462 ATP-binding cassette, sub-family C (CFTR/MRP), member 13 TCCACCAGCACCCCGCCCCAGGCGC[A/T]CTGGCTAGGACTGGAAGGCAAGGAC 14568061 NCBI Build 36.2 Human 21q1,21q11,21q11.2,21q11.2c,21q 21 .07 0 0 0 Homo sapiens C__25986767_70 CYP2C19 CPCJ|CYP2C|CYP 2C|P450C2C|P450IIC19|RP11-400G3.4 CYP2C19*2A,c.681G>A|CYP2C19*2A,g.19154G>A|CYP2C19*2B,c.681G>A|CYP2C19*2B,g.19154G>A|CYP2C19*2C,c.681G>A|CYP2C19*2C,g.19154G>A A/G P227P MIM:124020|PharmGKB:PA124 rs4244285 hCV25986767 Silent Mutation cytochrome P450, family 2, subfamily C, polypeptide 19 NM_000769 TTCCCACTATCATTGATTATTTCCC[A/G]GGAACCCATAACAAATTACTTAAAA 96531606 NCBI Build 36.2 Human 10q2,10q23,10q23.3,10q23.33,10q23.33c,10q 10 .14 .1 .19 .32 Homo sapiens C__25959381_20 ABCC12 MRP9|MGC27071 A/G T1187I MIM:607041 rs34106426 hCV25959381 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GGTTCTGAGGTCTTCCAAGCTGAGA[A/G]TGCAGATATCCACCTCATCAATAAA 46679413 NCBI Build 36.2 Human 16q,16q12.1a,16q12,16q12.1,16q1 16 0 .1 0 0 Homo sapiens C__25959735_20 SLC10A1 NTCP|NTCP1 A/G MIM:182396 hCV25959735 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 NM_003049 AGTGGAAGACCACTCCTTGTTCTCC[A/G]GCTGACTCCGTTTCTTGTGCAGTTC 69333664 NCBI Build 36.2 Human 14q2,14q24,14q24.2,14q24.2a,14q 14 0 .06 0 0 Homo sapiens C__25961417_20 ABCC12 MRP9|MGC27071 A/T E690V MIM:607041 rs34135219 hCV25961417 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CAGTTTTGCATAGCGCCCTCTCTCC[A/T]CCATTAACTCCTTGTGGGTTCCCTT 46703243 NCBI Build 36.2 Human 16q,16q12.1a,16q12,16q12.1,16q1 16 .01 .09 0 0 Homo sapiens C__25962116_20 SLC10A1 NTCP|NTCP1 A/G MIM:182396 hCV25962116 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 NM_003049 TGGCAAACATGATGCTCTTCCCCAC[A/G]TTGATGGCAGAGAGAACTGTGACGG 69315771 NCBI Build 36.2 Human 14q2,14q24,14q24.2,14q24.2a,14q 14 0 .06 0 0 Homo sapiens C__25962364_30 ABCC12 MRP9|MGC27071 C/T *1024W MIM:607041 rs36102575 hCV25962364 Nonsense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 GAGGACATCCATTCTCAGCGCAAAC[C/T]ACCTGAGAGCACAGTTAAAGTAGAG 46688282 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .02 .01 0 0 Homo sapiens C__25963215_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G H62H|H62H MIM:107910 hCV25963215 Silent Mutation|Silent Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 CGATCCCCATCCACAGGAATCTGCC[A/G]TGGGAGATGAGGGGTCCAATTCCCA 49316458 NCBI Build 36.2 Human 15q21,15q2,15q21.2,15q21.2b,15q 15 0 .08 0 0 Homo sapiens C__25963394_20 ABCC12 MRP9|MGC27071 A/G F54F MIM:607041 hCV25963394 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 CCGGCGTGAGCCAGGAAAATGTGGC[A/G]AAGGAGAGTAGCCCGGCATCATCCA 46735435 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 0 .09 0 0 Homo sapiens C__25963479_20 GPX3 GPx-P|GSHPx-3|GSHPx-P C/G L13L MIM:138321 rs8177413 hCV25963479 Silent Mutation glutathione peroxidase 3 (plasma) NM_002084 TGCAGGCGTCCTGCCTGCTTTCCCT[C/G]CTCCTGGCCGGCTTCGTCTCGCAGA 150380447 NCBI Build 36.2 Human 5q3,5q33,5q33.1,5q33.1d,5q 5 .01 .06 .11 .02 Homo sapiens C__25963987_20 UGT1A4 UDPGT|UGT1D|HUG-BR2 C/T S113S MIM:606429 rs28898610 hCV25963987 Silent Mutation UDP glucuronosyltransferase 1 family, polypeptide A4 NM_007120 ATCTTCTGAAGAGATATTCTAGAAG[C/T]ATGGCAATTATGAACAATGTATCTT 234292544 NCBI Build 36.2 Human 2q3,2q37,2q37.1,2q37.1d,2q 2 0 .01 0 0 Homo sapiens C__25964657_20 GPX5 A/G T47A|T47A MIM:603435 hCV25964657 Mis-sense Mutation|Mis-sense Mutation glutathione peroxidase 5 (epididymal androgen-related protein) NM_001509|NM_003996 CACCATCTATGACTATGAGGCCATC[A/G]CACTTAATAAGAATGAATATGTTTC 28605258 NCBI Build 36.2 Human 6p2,6p22,6p22.1,6p22.1b,6p 6 0 .02 0 0 Homo sapiens C__25964717_20 GPX3 GPx-P|GSHPx-3|GSHPx-P C/T MIM:138321 rs8177412 hCV25964717 UTR 5 glutathione peroxidase 3 (plasma) NM_002084 CGCCTAGCGATTGGCTGCAAGGGTC[C/T]CGGCTTGGCCGCGGATTGGTCACAC 150380280 NCBI Build 36.2 Human 5q,5q33.1d,5q33.1,5q33,5q3 5 .11 .18 .13 .17 Homo sapiens C__25964880_20 SLC28A1 CNT1|HCNT1 A/C R469R| MIM:606207|PharmGKB:PA387 rs8187779 hCV25964880 Silent Mutation| solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 NM_004213|NM_201651 TCAGCTCATCTGCTCCTACATCCTG[A/C]GGCCTGTAGCCTTCTTGATGGGTGT 83279577 NCBI Build 36.2 Human 15q2,15q25,15q25.3,15q25.3a,15q 15 0 .03 0 0 Homo sapiens C__25965593_20 ABCC12 MRP9|MGC27071 A/G R1117C MIM:607041 rs7193955 hCV25965593 Mis-sense Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 12 NM_033226 TAGTCTCTGAAGGTGATCTCCCCAC[A/G]GCTGGGCCAGTCCTTGGGACAGGTC 46680083 NCBI Build 36.2 Human 16q1,16q12.1,16q12,16q12.1a,16q 16 .21 .23 .06 .13 Homo sapiens C__30634213_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*7,c.167 G>A|CYP3A4*7,c.167G>A|CYP3A4*7,g.6004G>A C/T D56G MIM:124010|PharmGKB:PA130 hCV30634213 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 ACATTCCATGTCAAACATACAAAAG[C/T]CCTGGGAGGAGAAACAAAATAATAT 99213638 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30634215_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E T/A MIM:124040|PharmGKB:PA129 hCV30634215 Intron cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 CCACCACACCCAGCTGATTAAAAAT[T/A]TAAAAAAATTATTTTGGCTGGGCAC 135198533 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 0 0 0 0 Homo sapiens C__30634216_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E CYP2E1*3,g.10023G>A G/A I389V MIM:124040|PharmGKB:PA129 hCV30634216 Mis-sense Mutation cytochrome P450, family 2, subfamily E, polypeptide 1 NM_000773 TCTTTGTTTCTCCTAGGGCACAGTC[G/A]TAGTGCCAACTCTGGACTCTGTTTT 135201254 NCBI Build 36.2 Human 10q2,10q26,10q26.3,10q26.3f,10q 10 0 0 0 0 Homo sapiens C__30634229_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6,g.2026C>T A/G MIM:122720|PharmGKB:PA121 rs28399443 hCV30634229 Intron cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 GCGCCTGCGGGTATGGCGGGAGAAG[A/G]GGGTTGGGGAGAGAGTCAACTCAGA 46046146 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .03 0 0 0 Homo sapiens C__30634232_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6,g.1777G>T/C C/G MIM:122720|PharmGKB:PA121 rs2545783 hCV30634232 cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 CGGAGGGCGTCGATGAGGAAGCCCG[C/G]CTCCTCCTGGATGCGCTCCTCGATG 46046395 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 0 0 0 Homo sapiens C__30634234_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A CYP2A6*14,c.86G>A|CYP2A6*14,g.86G>A C/T N29S MIM:122720|PharmGKB:PA121 rs28399435 hCV30634234 Mis-sense Mutation cytochrome P450, family 2, subfamily A, polypeptide 6 NM_000762 GGGTCCCGGAGGCAGCTTCCCCTTG[C/T]TCTTCCTCTGCTGCCAAACAGACAT 46048086 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 .06 0 0 0 Homo sapiens C__30634236_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*13A,c.415A>G|CYP2B6*13A,g.13072A>G|CYP2B6*13B,c.415A>G|CYP2B6*13B,g.13072A>G|CYP2B6*8,c.415A>G|CYP2B6*8,g.13072A>G A/G K139E MIM:123930|PharmGKB:PA123 rs12721655 hCV30634236 Mis-sense Mutation cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 CACTATGAGGGACTTCGGGATGGGA[A/G]AGCGGAGTGTGGAGGAGCGGATTCA 46202122 NCBI Build 36.2 Human 19q1,19q13,19q13.2,19q13.2b,19q 19 0 0 0 0 Homo sapiens C__30634201_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4,g.23130T>C A/G T431I MIM:124010|PharmGKB:PA130 rs1041988 hCV30634201 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 GGGTCCACTTCCAAAGGGTGTGTAT[A/G]TGTAAGGATCTATGTTGTCCTTGTT 99196502 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30634202_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*12,c.1117 C>T|CYP3A4*12,c.1117C>T|CYP3A4*12,g.21896C>T A/G L373F MIM:124010|PharmGKB:PA130 rs12721629 hCV30634202 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 ACATCTTTTTTGCAGACCCTCTCAA[A/G]TCTCATAGCAATTGGGAATAATCTG 99197736 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30634203_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*11,c.1088 C>T|CYP3A4*11,c.1088C>T|CYP3A4*11,g.21867C>T A/G T363M MIM:124010|PharmGKB:PA130 hCV30634203 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 CATAGCAATTGGGAATAATCTGAGC[A/G]TTTCATTCACCACCATGTCAAGATA 99197765 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30634205_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*5,c.653 C>G|CYP3A4*5,c.653C>G|CYP3A4*5,g.15702C>G C/G P218R MIM:124010|PharmGKB:PA130 hCV30634205 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 CCACATACTTATTGAGAGAAAGAAT[C/G]GATCCAAAAAATCAAATCTTAAAAG 99203930 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C__30634207_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*16A,c.554C>G|CYP3A4*16A,g.15603C>G|CYP3A4*16B,c.554C>G|CYP3A4*16B,g.15603C>G C/G T185S MIM:124010|PharmGKB:PA130 rs12721627 hCV30634207 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 GATGTTCACTCCAAATGATGTGCTA[C/G]TGATCACATCCATGCTGTAGGCCCC 99204029 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 .01 0 Homo sapiens C__30634209_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*9,c.508 G>A|CYP3A4*9,c.508G>A|CYP3A4*9,g.14292G>A C/T I170V MIM:124010|PharmGKB:PA130 hCV30634209 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 GCTTCTACTTACTCTTTCAAGGTGA[C/T]AGGCTTGCCTGTCTCTGCTTCCCGC 99205340 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 0 0 0 0 Homo sapiens C__30634211_30 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 CYP3A4*4,c.352 A>G|CYP3A4*4,c.352A>G|CYP3A4*4,g.13871A>G C/T I118V MIM:124010|PharmGKB:PA130 hCV30634211 Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 CATTCTTCATCCTCAGCTATAGAGA[C/T]GGCACTTTTCATAAATCCCACTGGA 99205761 NCBI Build 36.2 Human 7q2,7q22,7q22.1,7q22.1b,7q 7 0 0 0 0 Homo sapiens C____773142_20 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 A/G R473* MIM:603593|PharmGKB:PA35925 hCV773142 Nonsense Mutation solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 ATGCACGGCTTACCCACGATCCTTC[A/G]GAGGTAAAGCGGTCGCTTATGTTCT 22312994 NCBI Build 36.2 Human 14q,14q11.2e,14q11.2,14q1,14q11 14 0 0 0 0 Homo sapiens C____786091_10 TYMS TS|TMS|TSase|HsT422|MGC88736 T/G G157V MIM:188350|PharmGKB:PA359 rs596909 hCV786091 Mis-sense Mutation thymidylate synthetase NM_001071 AATTCTACAGATTATTCAGGACAGG[T/G]AGTTGACCAACTGCAAAGAGTGATT 659087 NCBI Build 36.2 Human 18p,18p11.32,18p11,18p11.32c,18p11.3,18p1 18 0 0 0 0 Homo sapiens C____894448_20 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 A/G R1057* MIM:603201|PharmGKB:PA374 hCV894448 Nonsense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 TTGTATACACTGATTGGGGGTTGTC[A/G]GTCCAGCAGTTGAAAAAAGCGTGCA 169497177 NCBI Build 36.2 Human 2q,2q24.3f,2q24.3,2q24,2q2 2 0 0 0 0 Homo sapiens C____894855_20 CYP3A43 MGC119315|MGC119316 CYP3A43*2B,g.31867C>G|CYP3A43*3,g.31867C>G C/G P340A|P340A|P340A MIM:606534 rs680055 hCV894855 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 3, subfamily A, polypeptide 43 NM_022820|NM_057095|NM_057096 GCAGGAGGAGATTGACGCAGTTTTA[C/G]CCAATAAGGTAAGGGGATGATCCCC 99295541 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 .07 .32 0 0 Homo sapiens C____938282_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 C/T K1173E|K966E MIM:606882 hCV938282 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 AGGATGGCTGTCTGTCCTTTCATCT[C/T]GTGGTCTGTCATAGCGTCACTGACA 51413257 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C____938273_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.3 A/T D1106V|D899V MIM:606882 hCV938273 Mis-sense Mutation|Mis-sense Mutation ATPase, Cu++ transporting, beta polypeptide NM_000053|NM_001005918 GGCCAGGATGCCTTCCACGTTGCTG[A/T]CTTTGCACCCAATTCCACAGCCTGG 51414618 NCBI Build 36.2 Human 13q,13q14.3d,13q14.3,13q14,13q1 13 0 0 0 0 Homo sapiens C___8851954_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs1053046 hCV8851954 UTR 3 peroxisome proliferator-activated receptor delta NM_006238 GTCCTCCCTCCCAAGGAGCCATTCT[A/G]TGTGTGACTCTGGGTGGAAGTGCCC 35503556 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 .04 .45 0 .03 Homo sapiens C___8908998_10 NNMT A/C K36Q MIM:600008|PharmGKB:PA251 rs1802606 hCV8908998 Mis-sense Mutation nicotinamide N-methyltransferase NM_006169 TGGTTCTAGGCACTCTGCAGAAAGC[A/C]AGATTCTTAAGCACCTTCTGAAAAA 113672594 NCBI Build 36.2 Human 11q,11q23.2b,11q23.2,11q23,11q2 11 0 0 0 0 Homo sapiens C___8910325_20 GSTA4 GTA4|GSTA4-4|DKFZp686D21185|RP1-214M20.1 C/T Q117Q MIM:605450 rs1802061 hCV8910325 Silent Mutation glutathione S-transferase A4 NM_001512 GGGCCATGTTAACCACTTCCTTTTG[C/T]TGATCATCTGGTTTTAAGAAAGGAT 52957284 NCBI Build 36.2 Human 6p,6p12.1,6p12.1d,6p1,6p12 6 .07 0 0 0 Homo sapiens C___8926538_20 GSTO1 P28|GSTTLp28|DKFZp686H13163 C/T L241L MIM:605482 rs1045505 hCV8926538 Silent Mutation glutathione S-transferase omega 1 NM_004832 GCCCTGAGGCCTGTGACTATGGGCT[C/T]TGAAGGGGGCAGGAGTCAGCAATAA 106017150 NCBI Build 36.2 Human 10q,10q25.1a,10q25.1,10q25,10q2 10 0 0 0 0 Homo sapiens C___8934008_80 ADH7 ADH-4 G/T V149V MIM:600086 rs1042111 hCV8934008 Silent Mutation alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 ATGTACTGGTGTTCATGAAGTGGTG[G/T]ACTGGTTTGCCCTTGCATGTAAATC 100568106 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 0 0 0 0 Homo sapiens C___8934009_30 ADH7 ADH-4 C/G A92G MIM:600086 rs1573496 hCV8934009 Mis-sense Mutation alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 TATACCTGGTTTCACTGTAGTCACT[C/G]CTTCTCCAATGCTCTCTACAATCCC 100568692 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 .13 0 0 0 Homo sapiens C___8934057_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T |||| MIM:158343|PharmGKB:PA244 rs3743527 hCV8934057 |||| ATP-binding cassette, sub-family C (CFTR/MRP), member 1 NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GGGCCTGGAGAAAATCATTTTCTCC[C/T]CTTGGCAGTGTCCCAGGGCCCTGGA 16143182 NCBI Build 36.2 Human 16p,16p13.11a,16p13.11,16p13.1,16p1,16p13 16 .17 .15 .41 .48 Homo sapiens C___8941193_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs1048098 hCV8941193 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GAGAAGCCGATGGCGTGGTCCAAGA[A/G]CTTGACAAACTTGATGGTCTTGGTG 17441671 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C___8941194_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G MIM:600509|PharmGKB:PA24395 rs1048096 hCV8941194 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 AGCAGCCCTGTGAGGCAGAAGCGTA[C/G]CTGCGAGAAGCCGATGGCGTGGTCC 17441641 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C___8941199_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs1048095 hCV8941199 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 CATCCACCAGTAGGTGCCTTTGGAC[A/G]GCAGATTCACGAAGGGCTGCAGGAA 17439854 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C___8941200_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 G/A MIM:600509|PharmGKB:PA24395 rs1048094 hCV8941200 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TTGGTAGTTGGTGAGGGCCCTCATG[G/A]CGATGGGCAGCTTCCCGATGGCTCG 17439761 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C___8941201_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 G/A MIM:600509|PharmGKB:PA24395 rs1048093 hCV8941201 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GTTGGTAGTTGGTGAGGGCCCTCAT[G/A]GCGATGGGCAGCTTCCCGATGGCTC 17439760 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C___8952817_20 PON2 C/G C311S|S299C MIM:602447|PharmGKB:PA33530 rs7493 hCV8952817 Mis-sense Mutation|Mis-sense Mutation paraoxonase 2 NM_000305|NM_001018161 AACTGTAGTCACTGTAGGCTTCTCA[C/G]ATAGAATGTTCTGGATGCGGAGAAC 94872711 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 .13 .23 .26 .21 Homo sapiens C___9071393_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs1799857 hCV9071393 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 AGTCGGCCTCTTTGAAGAAGCTGAC[A/G]TGGCCCACGAAAGTCTGTGGACAGA 17409068 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 .43 .44 .3 .32 Homo sapiens C___9152783_20 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/T || MIM:603065|PharmGKB:PA378 rs1523130 hCV9152783 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 AATCCAGTATTTCACTTACTCTTTT[C/T]CTTTCCAATATCCTCATGACATTCA 120982197 NCBI Build 36.2 Human 3q,3q13.33,3q13.33a,3q13.3,3q13,3q1 3 .37 .19 .29 .09 Homo sapiens C___9182882_10 ARS2 ARS2|ASR2|MGC126427 A/G P75P| rs11983638 hCV9182882 Silent Mutation|UTR 5 ARS2 protein NM_015908|NM_182800 CGCCACCTCGCCACGAACTCAGCCC[A/G]CCACAGAAGCGCATGAGGAGAGACT 100316944 NCBI Build 36.2 Human 7q,7q22.1c,7q22.1,7q22,7q2 7 0 .03 0 0 Homo sapiens C___9440184_20 UGT2B15 UGT2B8 G/T MIM:600069|PharmGKB:PA37188 rs4148269 hCV9440184 UDP glucuronosyltransferase 2 family, polypeptide B15 NM_001076 CTAATCTCTTTTCTTCTTCTTTCCT[G/T]TTTTGGCAAGCTTTCGGAAACAAAA 69547466 NCBI Build 36.2 Human 4q,4q13.2c,4q13.2,4q13,4q1 4 .37 .27 .17 .24 Homo sapiens C___9491497_10 DPYD DHP|DPD|MGC70799|MGC132008 A/G MIM:274270|PharmGKB:PA145 rs1801265 hCV9491497 dihydropyrimidine dehydrogenase NM_000110 TCTAATTTCTTGGCCGAAGTGGAAC[A/G]CAGAGTTGCATGAGTTTGTGTTCGA 98121473 NCBI Build 36.2 Human 1p,1p21.3b,1p21.3,1p21,1p2 1 .21 .34 .03 .14 Homo sapiens C___9520102_30 SLC19A1 CHMD|FOLT|IFC1|REFC|RFC1 C/G P82P MIM:600424|PharmGKB:PA327 rs1051269 hCV9520102 Silent Mutation solute carrier family 19 (folate transporter), member 1 NM_194255 GCAGGTAGTCGGTGAGCAGGAACAC[C/G]GGCACCAGCACGGCCAGGTAGGAGT 45776434 NCBI Build 36.2 Human 21q,21q22.3e,21q22.3,21q22,21q2 21 .02 .01 .01 0 Homo sapiens C____598868_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*24,c.1016G>A|CYP21A2*24,g.2058G>A A/G H340R MIM:201910 hCV598868 Mis-sense Mutation cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 AGCTCCCGGGTCCCCTACAAGGACC[A/G]TGCACGGCTGCCCTTGCTCAATGCC 32116241 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C____598880_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DAQB-124C11.2 CYP21A2*21,c.631G>C|CYP21A2*21,g.1203G>C A/G MIM:201910 hCV598880 cytochrome P450, family 21, subfamily A, polypeptide 2 NM_000500 CCACTGGTCCATCCAAATTGTGGAC[A/G]TGATTCCCTTTCTCAGGGTGAGGAC 32115386 NCBI Build 36.2 Human 6p,6p21.32b,6p21.32,6p21,6p21.3,6p2 6 .08 .09 0 0 Homo sapiens C____600632_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/C MIM:600509|PharmGKB:PA24395 rs757110 hCV600632 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 CGTGCTCTGACCTTCTGTCCAGGGG[A/C]GATGAGGGCATTGACGTGCTTCAGC 17375053 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 .32 .09 .35 .27 Homo sapiens C____600644_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G MIM:600509|PharmGKB:PA24395 rs28938469 hCV600644 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GGGTCCTGCAGGATGATGGAGAGGC[A/G]TGAGCGCAGGGTGTGCAGCGGCAGT 17373782 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____600648_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G MIM:600509|PharmGKB:PA24395 rs28936370 hCV600648 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 CACCGGCTTCAGGGAGCTGTCGTAG[C/G]GCACGCTCAGGTTCTGGATCTGGAT 17375103 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____600653_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/C MIM:600509|PharmGKB:PA24395 hCV600653 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TAGAAGGAGCGAGGACTTGCCGCAG[A/C]CCACCTGCCCCACGATCATAGTCAG 17405247 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____600654_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G MIM:600509|PharmGKB:PA24395 hCV600654 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TAGATCGGACCACACTGGACAGCAG[C/G]AACAGCGGTGTGACCAAGATATGGA 17408981 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____600655_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T MIM:600509|PharmGKB:PA24395 hCV600655 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GCAGTCATTTCTCCCATGGACAGGT[C/T]GGAGGTGGACAGGTGCATAATTTTA 17426755 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____600658_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G MIM:600509|PharmGKB:PA24395 hCV600658 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 TGGGGAAGTTGGAAGTCTCGATGTT[C/G]TGATAGTAGACCACGGAGGTGACAG 17448261 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 .01 0 0 0 Homo sapiens C____600659_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T MIM:600509|PharmGKB:PA24395 hCV600659 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352 GAGCAGCATGAAGGTCAGGATCCAC[C/T]GCAGGTTGTGCCCAGGGAAATGAAG 17453078 NCBI Build 36.2 Human 11p,11p15.1d,11p15.1,11p15,11p1 11 0 0 0 0 Homo sapiens C____714912_30 ADH7 ADH-4 C/T H132R MIM:600086 rs284797 hCV714912 Mis-sense Mutation alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide NM_000673 GGTGGTGCCATCAGCCAGTACTCCA[C/T]GACCAGTAATACTGTTTGATACATC 100568158 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 .01 0 0 0 Homo sapiens C____773137_20 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 C/T *242W MIM:603593|PharmGKB:PA35925 hCV773137 Nonsense Mutation solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 CTTCAGTGACATAGTTGAGGGTGTC[C/T]CAGCCTGAGTAGGAGAACAGAGCTG 22317886 NCBI Build 36.2 Human 14q,14q11.2f,14q11.2,14q1,14q11 14 0 0 0 0 Homo sapiens C____773138_20 SLC7A7 LPI|LAT3|Y+LAT1|y+LAT-1 A/C R334L MIM:603593|PharmGKB:PA35925 hCV773138 Mis-sense Mutation solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 NM_003982 GCCTTCTCTTGAGCCCACAAAGAAA[A/C]GCCTATGTTAGGTAAGATAGGAGAA 22314587 NCBI Build 36.2 Human 14q,14q11.2f,14q11.2,14q1,14q11 14 0 0 0 0 Homo sapiens C___8759263_30 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 A/G |C594C MIM:605251 rs939336 hCV8759263 |Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 5 NM_001023587|NM_005688 AGGTTTTTCCACTTCCCACACTGCC[A/G]CAGATTCCAACCAGTTTACCCTGGA 185168228 NCBI Build 36.2 Human 3q,3q27.1b,3q27.1,3q27,3q2 3 .44 .23 .18 .11 Homo sapiens C___8759275_30 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 A/G |S400S MIM:605251 rs1053386 hCV8759275 |Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 5 NM_001023587|NM_005688 CAATGGGAGCCACACCCACAGTGAT[A/G]CTCTGGAAGTACCCAGCTTTTTCCA 185179081 NCBI Build 36.2 Human 3q,3q27.1b,3q27.1,3q27,3q2 3 0 .2 0 0 Homo sapiens C___8760913_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || MIM:603065|PharmGKB:PA378 rs1523129 hCV8760913 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 TGTCCAGTGGGATTTGTAATCCAAT[A/G]CCTCCTAGCCCTAGCAGAATCCCAT 120982298 NCBI Build 36.2 Human 3q,3q13.33,3q13.33a,3q13.3,3q13,3q1 3 0 .31 0 0 Homo sapiens C___8760925_30 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || MIM:603065|PharmGKB:PA378 rs1063955 hCV8760925 || nuclear receptor subfamily 1, group I, member 2 NM_003889|NM_022002|NM_033013 GAGACCCAAAGAAAGCTGGAACCAT[A/G]CTGACTTTGTACACTGTGAGGACAC 121008821 NCBI Build 36.2 Human 3q,3q13.33,3q13.33a,3q13.3,3q13,3q1 3 0 0 0 0 Homo sapiens C___8761912_30 CYP20A1 CYP-M|MGC22229 C/T rs1048013 hCV8761912 cytochrome P450, family 20, subfamily A, polypeptide 1 NM_177538 CAAACTGACTCCAGTTTCTGCCCAG[C/T]TTCAAGATATTGAAGGAAAAATTGA 203862797 NCBI Build 36.2 Human 2q,2q33.2a,2q33.2,2q33,2q3 2 .37 .19 .24 .37 Homo sapiens C___8786528_10 ARS2 ARS2|ASR2|MGC126427 C/T D857D|D777D rs11171 hCV8786528 Silent Mutation|Silent Mutation ARS2 protein NM_015908|NM_182800 CACCTCACAGGATGGTTCGTGGAGA[C/T]CCAAGGGCCATTGTGGAATATCGGG 100324046 NCBI Build 36.2 Human 7q,7q22.1c,7q22.1,7q22,7q2 7 .09 .22 0 0 Homo sapiens C___8786536_10 ARS2 ARS2|ASR2|MGC126427 C/T L265L|L186L rs15624 hCV8786536 Silent Mutation|Silent Mutation ARS2 protein NM_015908|NM_182800 TGGAAGGAGGCACGGAGAATGATCT[C/T]CGCATCCTGGAGCAGGAGGAGGAGG 100319962 NCBI Build 36.2 Human 7q,7q22.1c,7q22.1,7q22,7q2 7 .47 .47 .12 .2 Homo sapiens C___8794632_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G R435C|R435C MIM:107910 hCV8794632 Mis-sense Mutation|Mis-sense Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 GCGATGTACTTTCCTGCACAGCCAC[A/G]GGGCCCAAAGCCAAATGGCTGAAAG 49290506 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 0 0 0 0 Homo sapiens C___8794665_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G | MIM:107910 rs1050760 hCV8794665 UTR 3|UTR 3 cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 TTTGTATTACTTGATGATTATATAT[A/G]GTTTGTATTACCTGAATCTACAGGT 49289590 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 0 0 0 0 Homo sapiens C___8794666_10 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM G/T | MIM:107910 rs1050677 hCV8794666 UTR 3|UTR 3 cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 CCCATAGGAGGTATGCCTATAAAAT[G/T]CCATGGGCCACTGAGTGTTCACTGT 49290185 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 0 0 0 0 Homo sapiens C___8794674_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/T K108*|K108* MIM:107910 rs1803154 hCV8794674 Nonsense Mutation|Nonsense Mutation cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 AATCGAGAGCTGTAATGATTGTGCT[A/T]CATTATGTGGAACATACTTGAGGAC 49307397 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 0 0 0 0 Homo sapiens C___8794680_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM C/G | MIM:107910 rs1062033 hCV8794680 Intron|Intron cytochrome P450, family 19, subfamily A, polypeptide 1 NM_000103|NM_031226 ATCAGCAGGTGGGGCAGGCGGGGAA[C/G]TCAGGGAGCTTTTCCACATGCTAGG 49335230 NCBI Build 36.2 Human 15q,15q21.2b,15q21.2,15q2,15q21 15 .49 .15 .34 .35 Homo sapiens C___8813563_30 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T K1186E MIM:603201|PharmGKB:PA374 rs1521808 hCV8813563 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 TGTTTTGCAGCTGCTATGACTCTTT[C/T]CATGGGAATTTCTTTGGTGTTGTCT 169491974 NCBI Build 36.2 Human 2q,2q24.3f,2q24.3,2q24,2q2 2 0 .06 0 0 Homo sapiens C___8813572_30 ABCB11 BSEP|PGY4|SPGP|ABC16|PFIC2|PFIC-2 C/T A1028A MIM:603201|PharmGKB:PA374 rs497692 hCV8813572 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 11 NM_003742 AAGAGAAGGCTCTTCCAAGAGCTGT[C/T]GCACTCAGTACAACTGCAGAGATCA 169497262 NCBI Build 36.2 Human 2q,2q24.3f,2q24.3,2q24,2q2 2 .44 .3 .5 .28 Homo sapiens C___8814556_30 SULT4A1 NST|BRSTL1|SULTX3|BR-STL-1|MGC40032|DJ388M5.3|hBR-STL-1 A/C MIM:608359|PharmGKB:PA412 rs138056 hCV8814556 UTR 3 sulfotransferase family 4A, member 1 NM_014351 CGGAGACCCCTTCCACAGCAGCGAC[A/C]CTCCTGACCACCACTTTGGGTGCTT 42552006 NCBI Build 36.2 Human 22q,22q13.2c,22q13.2,22q13,22q1 22 .2 .28 .02 .1 Homo sapiens C___8817669_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 A/G Q127R|Q127R MIM:170998|PharmGKB:PA280 rs1800204 hCV8817669 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GTATTACCCTCACAGGGCTTCTTTC[A/G]GCGAACGATTCGACTCAAGCTGGTG 44992834 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 0 0 Homo sapiens C___8817670_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/G L162V|L162V MIM:170998|PharmGKB:PA280 rs1800206 hCV8817670 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CCAGTATTGTCGATTTCACAAGTGC[C/G]TTTCTGTCGGGATGTCACACAACGG 44992938 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 .03 0 0 0 Homo sapiens C___8817682_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/T A227V|A227V MIM:170998|PharmGKB:PA280 rs1800234 hCV8817682 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 AACATGAACAAGGTCAAAGCCCGGG[C/T]CATCCTCTCAGGAAAGGCCAGTAAC 44994544 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 .05 .02 Homo sapiens C___8817683_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/T N235N|N235N MIM:170998|PharmGKB:PA280 rs1800235 hCV8817683 Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 TCATCCTCTCAGGAAAGGCCAGTAA[C/T]AATCCAGTAGGTGTTTGCGGCTGTT 44994569 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 .06 0 0 Homo sapiens C___8817692_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/G L254L|L254L MIM:170998|PharmGKB:PA280 rs1800236 hCV8817692 Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CACTGTGTATGGCTGAGAAGACGCT[C/G]GTGGCCAAGCTGGTGGCCAATGGCA 45006403 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 0 0 Homo sapiens C___8817693_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/T A268V|A268V MIM:170998|PharmGKB:PA280 rs1042311 hCV8817693 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GCCAATGGCATCCAGAACAAGGAGG[C/T]GGAGGTCCGCATCTTTCACTGCTGC 45006444 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 0 0 Homo sapiens C___8817694_10 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 A/G N304D|N304D MIM:170998|PharmGKB:PA280 rs1800242 hCV8817694 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 AGGCTTCGCAAACTTGGACCTGAAC[A/G]ATCAAGTGACATTGCTAAAATACGG 45006551 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 0 0 Homo sapiens C___8817704_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452 C/G T409R|T409R MIM:170998|PharmGKB:PA280 rs1800243 hCV8817704 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CAGGAGGGTATTGTACATGTGCTCA[C/G]ACTCCACCTGCAGAGCAACCACCCG 45009760 NCBI Build 36.2 Human 22q,22q13.31d,22q13.3,22q13.31,22q13,22q1 22 0 0 0 0 Homo sapiens C___8826940_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 A/G S208F MIM:603756|PharmGKB:PA390 rs1061018 hCV8826940 Mis-sense Mutation ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 TAAGCCAGTTGTAGGCTCATCCAAG[A/G]ACAAGATGGAAGGATCAGTGATAAG 89261877 NCBI Build 36.2 Human 4q,4q22.1b,4q22.1,4q22,4q2 4 0 0 0 0 Homo sapiens C___8826957_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CDw338|EST157481|MGC102821 A/T MIM:603756|PharmGKB:PA390 rs1138276 hCV8826957 UTR 3 ATP-binding cassette, sub-family G (WHITE), member 2 NM_004827 AGTATAGCATTAATACATTTGTCAT[A/T]TATTAAATAATGGCAAACCATAGCA 89232003 NCBI Build 36.2 Human 4q,4q22.1b,4q22.1,4q22,4q2 4 0 0 0 0 Homo sapiens C___8829281_20 ADH4 ADH-2 G/T MIM:103740 rs1800759 hCV8829281 alcohol dehydrogenase 4 (class II), pi polypeptide NM_000670 CATGTTGCTTAATTCTCCAATCACT[G/T]CCTTTTCTCCTTTGTTGCTGTAATT 100284532 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 .47 .21 .22 .06 Homo sapiens C___8829489_20 ADH1B ADH2 A/C A222A MIM:103720|PharmGKB:PA24571 rs2018417 hCV8829489 Silent Mutation alcohol dehydrogenase IB (class I), beta polypeptide NM_000668 CAAATTTGTCCTTGTTGATGTCCAC[A/C]GCAATGATTCTGGCTGCTCCAGCTG 100454163 NCBI Build 36.2 Human 4q,4q23b,4q23,4q2 4 .02 .06 0 0 Homo sapiens C___8833021_30 SULT2B1 HSST2 C/T A95A|A110A MIM:604125|PharmGKB:PA36249 rs1052124 hCV8833021 Silent Mutation|Silent Mutation sulfotransferase family, cytosolic, 2B, member 1 NM_004605|NM_177973 CCTGGTGTGAGACCATTGTGGGTGC[C/T]TTCAGCCTCCCGGACCAGTACAGCC 53782413 NCBI Build 36.2 Human 19q,19q13.32c,19q13.32,19q13.3,19q13,19q1 19 0 0 0 0 Homo sapiens C___8840875_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 G/T MIM:605452 rs1109867 hCV8840875 UTR 5 ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 CACTGCGGGACCGGAGGCCGGGACT[G/T]GTCACTCGGAGAGGGGCGCGGACAT 219791697 NCBI Build 36.2 Human 2q,2q35f,2q35,2q3 2 .11 .49 .23 .1 Homo sapiens C___8840876_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|EST45597|FLJ22414 C/T L39L MIM:605452 rs1109866 hCV8840876 Silent Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 6 NM_005689 GAGCCAGCACCAAGGCCAGAGTCCC[C/T]AGAGCCATCCGCGTCGAGGGCACGA 219791523 NCBI Build 36.2 Human 2q,2q35f,2q35,2q3 2 .11 .5 .22 .1 Homo sapiens C___8841156_30 CYP27A1 CTX|CP27|CYP27 A/C G122G MIM:606530 rs1051087 hCV8841156 Silent Mutation cytochrome P450, family 27, subfamily A, polypeptide 1 NM_000784 TGGAGCAAGTGATGCGGCAAGAGGG[A/C]AAGTACCCAGTACGGAACGACATGG 219382654 NCBI Build 36.2 Human 2q,2q35e,2q35,2q3 2 0 0 0 0 Homo sapiens C___8847900_30 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704 A/C MIM:138390 rs1803688 hCV8847900 UTR 3 glutathione S-transferase M3 (brain) NM_000849 CTGACCCCTTACGGACAGGATGAAA[A/C]AAAACAAGCTCTGCAAGTCTGCCTC 110081186 NCBI Build 36.2 Human 1p,1p13.3b,1p13.3,1p1,1p13 1 0 0 0 0 Homo sapiens C___8848952_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 C/T D573G|D573G MIM:170261 rs1800573 hCV8848952 Mis-sense Mutation|Mis-sense Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 CTGGGCAGCCGCCATCACCTTATCA[C/T]CTTCGCAGCTCTGCAGCCCATAAGC 32905762 NCBI Build 36.2 Human 6p,6p21.32a,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C___8848953_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 C/T V554V|V554V MIM:170261 rs1801283 hCV8848953 Silent Mutation|Silent Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 TGTTCCTCACAGAACCGGAGAACAG[C/T]ACAGGCTCCTGCCCAACTGAAACCA 32905818 NCBI Build 36.2 Human 6p,6p21.32a,6p21.32,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C___8848961_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAQB-69D7.2 C/T I379V|I379V MIM:170261 rs1800454 hCV8848961 Mis-sense Mutation|Mis-sense Mutation transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) NM_000544|NM_018833 CCACTCTGGTATCTTACCCTCCTTA[C/T]GAGCAGGTACAAGGCGCGTTCCAGG 32908390 NCBI Build 36.2 Human 6p,6p21.32a,6p21.32,6p21,6p21.3,6p2 6 .19 .14 .16 .27 Homo sapiens C___8850814_20 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 C/G R187G MIM:138380|PharmGKB:PA29023 hCV8850814 Mis-sense Mutation glutathione S-transferase M2 (muscle) NM_000848 CCCAAACCTGAAGGACTTCATCTCC[C/G]GATTTGAGGTGATGCCCCCAGCCTC 110015720 NCBI Build 36.2 Human 1p,1p13.3b,1p13.3,1p1,1p13 1 0 0 0 0 Homo sapiens C___8851772_50 UGT2B4 UGT2B11 G/T MIM:600067 rs1051752 hCV8851772 UDP glucuronosyltransferase 2 family, polypeptide B4 NM_021139 GACATGTAGTTAAGCTTAGTAAATT[G/T]TTTTTCATGTAACCTGTGAATTGGA 70380646 NCBI Build 36.2 Human 4q,4q13.2c,4q13.2,4q13,4q1 4 0 .08 0 0 Homo sapiens C___8851830_30 UGT2A1 C/T MIM:604716 rs1347046 hCV8851830 UDP glucuronosyltransferase 2 family, polypeptide A1 NM_006798 TATTCTTTCTTTGCCAAAGGGCACC[C/T]TATATATTTCAAATGTCAGAGATGG 70547728 NCBI Build 36.2 Human 4q,4q13.3,4q13.3a,4q13,4q1 4 0 0 0 0 Homo sapiens C___8851952_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta C/T MIM:600409 rs2016520 hCV8851952 UTR 5 peroxisome proliferator-activated receptor delta NM_006238 CCTCTGCCCAGGCTGATGGGAACCA[C/T]CCTGTAGAGGTCCATCTGCGTTCAG 35486756 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 .21 .31 .17 .31 Homo sapiens C___8851953_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta G/T MIM:600409 rs1053041 hCV8851953 UTR 3 peroxisome proliferator-activated receptor delta NM_006238 CCTGGTGGGTCAGCCCAGCACCTGC[G/T]CCCAGTGGGAGCTTCCCGGGATAAA 35503170 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 0 0 0 0 Homo sapiens C___2307598_20 UGT1A1 GNT1|UGT1|UDPGT|UGT1A|HUG-BR1 UGT1A1*27,c.686C>A|UGT1A1*27,g.686C>A A/C Q229P MIM:191740|PharmGKB:PA420 rs35350960 hCV2307598 Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463 TTTCTGTGCGACGTGGTTTATTCCC[A/C]GTATGCAACCCTTGCCTCAGAATTC 234334358 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 .03 Homo sapiens C___2333304_30 CYP2S1 CYP2S1*1C,g.1324C>G|CYP2S1*1D,g.1324C>G C/G P74P rs338599 hCV2333304 Silent Mutation cytochrome P450, family 2, subfamily S, polypeptide 1 NM_030622 CGGTGTTCACCATCTACCTGGGACC[C/G]TGGCGGCCTGTGGTGGTCCTGGTTG 46392333 NCBI Build 36.2 Human 19q,19q13.2c,19q13.2,19q13,19q1 19 .07 .09 .28 .23 Homo sapiens C___2489281_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta A/G MIM:600409 rs2038068 hCV2489281 Intron peroxisome proliferator-activated receptor delta NM_006238 TGGGAACTAGAGACCCTGGTCCCAA[A/G]TTCAGAACTCTAGCCAGAGTCCAGA 35482439 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 .27 .43 .2 .31 Homo sapiens C___2489298_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931|PPAR-beta C/T MIM:600409 rs6901410 hCV2489298 Intron peroxisome proliferator-activated receptor delta NM_006238 GGTGTCTGCTTGTCCTCCGACCTCC[C/T]CTCCCATTTGTGGGAAAGGCATTTG 35438008 NCBI Build 36.2 Human 6p,6p21.31c,6p21.31,6p21,6p21.3,6p2 6 .07 .33 .01 .02 Homo sapiens C___2491865_20 GPX6 A/C L13F MIM:607913 rs406113 hCV2491865 Mis-sense Mutation glutathione peroxidase 6 (olfactory) NM_182701 TCTGCTGAGCAAAGCCAACCAGGAA[A/C]AACAGGACAAGACAGGAGGCCTGGA 28591461 NCBI Build 36.2 Human 6p,6p22.1b,6p22.1,6p22,6p2 6 .32 .33 .48 .48 Homo sapiens C___2520627_40 FMO1 C/T T249T MIM:136130 rs742350 hCV2520627 Silent Mutation flavin containing monooxygenase 1 NM_002021 ACATGTTGAGAAATTCCCTCCCAAC[C/T]CCAATTGTGACTTGGTTGATGGAGC 169516668 NCBI Build 36.2 Human 1q,1q24.3a,1q24.3,1q24,1q2 1 .12 .48 0 .02 Homo sapiens C___2538750_10 COMT C/G | MIM:116790|PharmGKB:PA117 rs4818 hCV2538750 | catechol-O-methyltransferase NM_000754|NM_007310 GCCTGCTGTCACCAGGGGCGAGGCT[C/G]ATCACCATCGAGATCAACCCCGACT 18331207 NCBI Build 36.2 Human 22q,22q11.21c,22q11.21,22q11.2,22q1,22q11 22 .48 .31 .27 .27 Homo sapiens C___2544197_10 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G rs2301641 hCV2544197 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 TACGTCTGCCCTGGATTCAGAAAGC[A/G]AGTCAGCTGTTCAAGCTGCACTGGA 20664795 NCBI Build 36.2 Human 7p,7p15.3d,7p1,7p15.3,7p15 7 .34 .49 .28 .24 Homo sapiens C___2547557_30 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/G MIM:100650|PharmGKB:PA24696 rs886205 hCV2547557 UTR 5 aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 CTCTTCACCTGGAGCATCAGCCGGG[A/G]AGGTCAGGGTCGCCCTGGCTCGGGC 110688810 NCBI Build 36.2 Human 12q,12q24.12b,12q24.12,12q24.1,12q24,12q2 12 .17 .32 .22 .08 Homo sapiens C___2548962_20 PON1 ESA|PON C/T Q192R MIM:168820 rs662 hCV2548962 Mis-sense Mutation paraoxonase 1 NM_000446 TAAACCCAAATACATCTCCCAGGAT[C/T]GTAAGTAGGGGTCAAGAAAATAGTG 94775382 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 .19 .38 .39 .41 Homo sapiens C___2583815_20 CYP4F2 CPF2 A/C V185G MIM:604426 rs3093153 hCV2583815 Mis-sense Mutation cytochrome P450, family 4, subfamily F, polypeptide 2 NM_001082 CTCAAACATATCCAAACAGGCACTA[A/C]CCTCTGAGGCCAGGAGCTGCCACTT 15862215 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .05 0 0 0 Homo sapiens C___2623923_20 ALDH3B1 ALDH4|ALDH7|FLJ26433 C/T S383S|S346S MIM:600466 rs2286163 hCV2623923 Silent Mutation|Silent Mutation aldehyde dehydrogenase 3 family, member B1 NM_000694|NM_001030010 AGCGGGTGCTGACCCAGACCAGCAG[C/T]GGGGGCTTCTGTGGGAACGACGGCT 67550085 NCBI Build 36.2 Human 11q,11q13.2,11q13.2a,11q13,11q1 11 .2 .29 .25 .24 Homo sapiens C___2630132_20 PON3 A/G F21F MIM:602720 rs13226149 hCV2630132 Silent Mutation paraoxonase 3 NM_000940 AAGATGCCACTCACCTAAACGCCAG[A/G]AACATCTCCCCGACTAAGGACAGGC 94863536 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 .17 .28 .27 .19 Homo sapiens C___2630153_20 PON2 C/G A148G|A136G MIM:602447|PharmGKB:PA33530 rs12026 hCV2630153 Mis-sense Mutation|Mis-sense Mutation paraoxonase 2 NM_000305|NM_001018161 TTTCAGATGCAACAGAGAATTTTCT[C/G]CTTCTTCAAATTTAAAAATTTCCAC 94878952 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 .12 .23 .25 .21 Homo sapiens C___2631552_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha A/G rs10254317 hCV2631552 ATP-binding cassette, sub-family B (MDR/TAP), member 5 NM_178559 ATGCCTTTATATATTTTGCCTATGC[A/G]GCAGGGTTTCGATTTGGAGCCTATT 20734538 NCBI Build 36.2 Human 7p,7p15.3d,7p1,7p15.3,7p15 7 .35 .23 .23 .31 Homo sapiens C___2649487_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757 A/G L1336L MIM:604323|PharmGKB:PA376 rs11568589 hCV2649487 Silent Mutation ATP-binding cassette, sub-family C (CFTR/MRP), member 3 NM_003786 GCAAGTCTTCCATGACCCTTTGCCT[A/G]TTCCGCATCCTGGAGGCGGCAAAGG 46116362 NCBI Build 36.2 Human 17q,17q21.33b,17q21.33,17q21.3,17q2,17q21 17 .01 0 0 0 Homo sapiens C___7586664_10 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 A/C G185V MIM:171050|PharmGKB:PA267 rs1128501 hCV7586664 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 GAACATTCCAATTTTGTCACCAATT[A/C]CTTCATTAATCTTGGAGACATCACT 87033470 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 0 0 0 Homo sapiens C___7586795_20 ABCB1 CLCS|MDR1|P-gp|PGY1|ABC20|CD243|GP170|MGC163296 C/T N44S MIM:171050|PharmGKB:PA267 rs1202183 hCV7586795 Mis-sense Mutation ATP-binding cassette, sub-family B (MDR/TAP), member 1 NM_000927 CACCATATACAACTTGTCAAGCCAA[C/T]TTGAATAGCGAAACTAAAAAGAGAG 87052919 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 0 0 0 Homo sapiens C___7599638_20 ABCB8 MABC1|M-ABC1|EST328128 A/T MIM:605464 rs1140977 hCV7599638 ATP-binding cassette, sub-family B (MDR/TAP), member 8 NM_007188 CACTCCCTAGGGGCTGCGAAGCTGC[A/T]CCCAGGTGGCAGGCTGCCTGGTGTC 150363616 NCBI Build 36.2 Human 7q,7q36.1d,7q36,7q36.1,7q3 7 0 0 0 0 Homo sapiens C___7607421_30 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 C/G P511A||P512A|P508A|P508A|P508A|P512A|P512A|P508A|P243A MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 rs1042709 hCV7607421 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 GGCCTTCATCACCTTTAAATGTTGT[C/G]CTTATGGCTACCGGAAATGCTTGGG 234345873 NCBI Build 36.2 Human 2q,2q37.1d,2q37.1,2q37,2q3 2 0 0 0 0 Homo sapiens C___7613022_20 CHST8 A/G MIM:610190 rs1064349 hCV7613022 UTR 3 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 NM_022467 ACCACGTGGTTTGCAGCTTTTCTAC[A/G]AGCCAGGGGGGAGGTTCCCTTGGAT 38956194 NCBI Build 36.2 Human 19q,19q13.11b,19q13.11,19q13,19q13.1,19q1 19 .09 .14 .03 .02 Homo sapiens C___7732401_60 CYP3A5 CP35|PCN3|P450PCN3 CYP3A5*1C,g.-74C>T A/G MIM:605325|PharmGKB:PA131 rs28371764 hCV7732401 UTR 5 cytochrome P450, family 3, subfamily A, polypeptide 5 NM_000777 AGTGCTGCTGTTTGCTGGGCTGTTT[A/G]CCTGGAGCTTCCCTGCCCTGCACAG 99115529 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 .05 .01 0 0 Homo sapiens C___7817764_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*13B,g.15582C>T|CYP2B6*15A,g.15582C>T|CYP2B6*15B,g.15582C>T|CYP2B6*1C,g.15582C>T C/T MIM:123930|PharmGKB:PA123 rs4803419 hCV7817764 Intron cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 CAGGCACTTCAGTCTGTGTCCTTGA[C/T]CTGCTGCTTCTTCCTAGGGGCCCTC 46204632 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .32 .11 .49 .38 Homo sapiens C___7817765_60 CYP2B6 CPB6|IIB1|P450|CYP2B|CYPIIB6 CYP2B6*6A,c.516G>T|CYP2B6*6A,g.15631G>T|CYP2B6*6B,c.516G>T|CYP2B6*6B,g.15631G>T|CYP2B6*6C,c.516G>T|CYP2B6*6C,g.15631G>T|CYP2B6*7A,c.516G>T|CYP2B6*7A,g.15631G>T|CYP2B6*7B,c.516G>T|CYP2B6*7B,g.15631G>T|CYP2B6*9,c.516G>T|CYP2B6*9,g.15631G>T|CYP2B6*13A,c.516G>T|CYP2B6*13A,g.15631G>T|CYP2B6*13B,c.516G>T|CYP2B6*13B,g.15631G>T|CYP2B6*19,c.516G>T|CYP2B6*19,g.15631G>T|CYP2B6*20,c.516G>T|CYP2B6*20,g.15631G>T G/T Q172H MIM:123930|PharmGKB:PA123 rs3745274 hCV7817765 Mis-sense Mutation cytochrome P450, family 2, subfamily B, polypeptide 6 NM_000767 TCATGGACCCCACCTTCCTCTTCCA[G/T]TCCATTACCGCCAACATCATCTGCT 46204681 NCBI Build 36.2 Human 19q,19q13.2b,19q13.2,19q13,19q1 19 .17 .42 .18 .3 Homo sapiens C___8059538_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G MIM:605250|PharmGKB:PA397 rs34559063 hCV8059538 UTR 3 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NM_005845 TATAGACATTTTGAATATAGCTATC[A/G]TTTTAACAAACCTCATTATGATCAC 94470238 NCBI Build 36.2 Human 13q,13q32.1,13q32,13q32.1a,13q3 13 .42 .41 .48 .45 Homo sapiens C___8124737_20 RALBP1 RIP|RIP1|RLIP76 C/G MIM:605801|PharmGKB:PA34199 rs12680 hCV8124737 UTR 3 ralA binding protein 1 NM_006788 ACAAGCCCATGCTGCTGCAGAGGGA[C/G]CCTGTGTTTGCAAAACCCAGTGGAC 9527835 NCBI Build 36.2 Human 18p,18p11.22b,18p11.22,18p11.2,18p11,18p1 18 .05 .1 .03 .02 Homo sapiens C___8302427_30 AHR C/T MIM:600253 rs1803079 hCV8302427 UTR 3 aryl hydrocarbon receptor NM_001621 TTTAGTGGAAAATAGGCTTTTTAAT[C/T]ATGAATATGATGACAATCAGTTATA 17351795 NCBI Build 36.2 Human 7p,7p21.1b,7p21.1,7p21,7p2 7 0 0 0 0 Homo sapiens C___8302428_20 AHR C/T MIM:600253 rs1803080 hCV8302428 UTR 3 aryl hydrocarbon receptor NM_001621 TTTAAACCTTTTATTATAAGTCTTA[C/T]ATAAACCATTTTTGTTACTCTCTTC 17351723 NCBI Build 36.2 Human 7p,7p21.1b,7p21.1,7p21,7p2 7 0 0 0 0 Homo sapiens C___8303546_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 C/G MIM:124010|PharmGKB:PA130 rs1041966 hCV8303546 UTR 5 cytochrome P450, family 3, subfamily A, polypeptide 4 NM_017460 CACTACTTTCCTTACTTATCTCTCT[C/G]CTCTGAGTCTTCCTTTCAGCTCTGT 99219666 NCBI Build 36.2 Human 7q,7q22.1b,7q22.1,7q22,7q2 7 0 0 0 0 Homo sapiens C___8310267_30 ABCC10 MRP7|SIMRP7|EST182763 A/G rs700008 hCV8310267 UTR 5 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 NM_033450 AGGTGAGGGGTATGTCTGGCTCCTG[A/G]GTCAGCCACGATGTGCCTCCTTGTC 43507815 NCBI Build 36.2 Human 6p,6p21.1c,6p21.1,6p21,6p2 6 0 0 0 0 Homo sapiens C___8311873_20 SLC29A1 ENT1|MGC1465|MGC3778 C/T |||| MIM:602193|PharmGKB:PA154 rs1046309 hCV8311873 |||| solute carrier family 29 (nucleoside transporters), member 1 NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 CCCTCCCAACTCCCCATGCCCAGTT[C/T]TTACCCATCATGCACCCTGTACAGT 44309739 NCBI Build 36.2 Human 6p,6p21.1b,6p21.1,6p21,6p2 6 0 0 0 0 Homo sapiens C___8342436_30 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318 C/T N121S MIM:100640 rs1049981 hCV8342436 Mis-sense Mutation aldehyde dehydrogenase 1 family, member A1 NM_000689 TGTTTTGATGCAGCCTGCTAAATCA[C/T]TCAGATATGCATTGGAATAGAGTTT 74733708 NCBI Build 36.2 Human 9q,9q21.13a,9q21.13,9q21,9q21.1,9q2 9 0 0 0 0 Homo sapiens C___8378380_40 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T MIM:603377|PharmGKB:PA333 rs1045020 hCV8378380 UTR 3 solute carrier family 22 (organic cation transporter), member 5 NM_003060 AACTGAAGAGGAAAGACTGTCTTGC[C/T]AGAAATGGCCAGCTTGTGCAGACTC 131757910 NCBI Build 36.2 Human 5q,5q31.1b,5q3,5q31.1,5q31 5 .07 .05 0 0 Homo sapiens C___8383855_20 DPYD DHP|DPD|MGC70799|MGC132008 C/T MIM:274270|PharmGKB:PA145 rs1801158 hCV8383855 dihydropyrimidine dehydrogenase NM_000110 AAACTTCAATCCGGCCATTTCTACA[C/T]TAATGTCCACCAGATCAATAGGAGT 97754009 NCBI Build 36.2 Human 1p,1p21.3b,1p21.3,1p21,1p2 1 .03 0 0 0 Homo sapiens C___8393505_20 DPYD DHP|DPD|MGC70799|MGC132008 A/C MIM:274270|PharmGKB:PA145 rs1801268 hCV8393505 dihydropyrimidine dehydrogenase NM_000110 TTGATGCAGTCGACAATAGGGCAAA[A/C]ACTGAGACACAGAGTACAGCCTGTA 97317215 NCBI Build 36.2 Human 1p,1p21.3b,1p21.3,1p21,1p2 1 0 0 0 0 Homo sapiens C___8393589_30 DPYD DHP|DPD|MGC70799|MGC132008 C/T MIM:274270|PharmGKB:PA145 rs1801267 hCV8393589 dihydropyrimidine dehydrogenase NM_000110 CTTGTTTTCTGCTATGATTTTCTTG[C/T]GCTGTTCCAGATAAGGTCCAAAACT 97336742 NCBI Build 36.2 Human 1p,1p21.3b,1p21.3,1p21,1p2 1 0 0 0 0 Homo sapiens C___2242993_20 ATP7A MK|MNK|RP3-465G10.1 A/C MIM:300011|PharmGKB:PA72 hCV2242993 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) NM_000052 TGAGGGGAATGACGTGTGCCTCCTG[A/C]GTACATAAAATAGAGTCTAGTCTCA 77151281 NCBI Build 36.2 Human Xq,Xq21,Xq21.1a,Xq2,Xq21.1 X 0 0 0 0 Homo sapiens C___2255322_10 COMT A/G Q73Q|Q23Q MIM:116790|PharmGKB:PA117 rs740602 hCV2255322 Silent Mutation|Silent Mutation catechol-O-methyltransferase NM_000754|NM_007310 AGCATGCGGAGCCCGGGAACGCACA[A/G]AGCGTGCTGGAGGCCATTGACACCT 18330268 NCBI Build 36.2 Human 22q,22q11.21c,22q11.21,22q11.2,22q1,22q11 22 .02 .13 0 0 Homo sapiens C___2255323_20 COMT C/T L203L|L153L MIM:116790|PharmGKB:PA117 rs165631 hCV2255323 Silent Mutation|Silent Mutation catechol-O-methyltransferase NM_000754|NM_007310 ACCGGTACCTGCCGGACACGCTTCT[C/T]TTGGAGGTGAGCCCCAACCAGGATG 18331816 NCBI Build 36.2 Human 22q,22q11.21c,22q11.21,22q11.2,22q1,22q11 22 .01 0 0 0 Homo sapiens C___2259750_20 PON1 ESA|PON A/T MIM:168820 rs854560 hCV2259750 paraoxonase 1 NM_000446 GCCAGTCCATTAGGCAGTATCTCCA[A/T]GTCTTCAGAGCCAGTTTCTGCCAGA 94784020 NCBI Build 36.2 Human 7q,7q21.3b,7q21.3,7q21,7q2 7 .37 .2 .05 .02 Homo sapiens C___2265723_50 CYP4F12 F22329_1 C/T MIM:611485 rs593421 hCV2265723 cytochrome P450, family 4, subfamily F, polypeptide 12 NM_023944 CACTGAGCCCCGCAGGAAGCTGGAA[C/T]TGATCATGCGCGCCGAGGGCGGGCT 15668830 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .27 .44 .02 0 Homo sapiens C___2265724_30 CYP4F12 F22329_1 A/G MIM:611485 rs593818 hCV2265724 cytochrome P450, family 4, subfamily F, polypeptide 12 NM_023944 GCTGCGGGTGGAGCCCCTGAATGTA[A/G]GCTTGCAGTGACTTTCTGACCCATC 15668884 NCBI Build 36.2 Human 19p,19p13.12a,19p13.12,19p13.1,19p1,19p13 19 .48 .29 .31 .28 Homo sapiens C___2275858_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G N245D|N245D MIM:609523 hCV2275858 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 TTGTGGCCAAACCTGCATTGCACCC[A/G]ACTATATTCTCTGTGAAGCATCCCT 19501702 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C___2275865_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T P121L|P121L MIM:609523 hCV2275865 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 TACCCCTTCGTTCTCACCATTCAGC[C/T]ACTGATAGGAGCCATCGCTGCAGGT 19495660 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C___2275866_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T P114L|P114L MIM:609523 hCV2275866 Mis-sense Mutation|Mis-sense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 CTGATAATCGGAGCTTGGAATTACC[C/T]CTTCGTTCTCACCATTCAGCCACTG 19495639 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C___2275868_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G *78W|*78W MIM:609523 hCV2275868 Nonsense Mutation|Nonsense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 TTTATGCTTGAGAATCTTCCTGAAT[A/G]GGTTACTGCTAAACCAGTTAAGAAG 19495531 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C___2275871_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T Q10*|Q10* MIM:609523 hCV2275871 Nonsense Mutation|Nonsense Mutation aldehyde dehydrogenase 3 family, member A2 NM_000382|NM_001031806 GGAGCTCGAAGTCCGGCGGGTCCGA[C/T]AGGCGTTCCTGTCCGGCCGGTCGCG 19492904 NCBI Build 36.2 Human 17p,17p11.2d,17p11,17p11.2,17p1 17 0 0 0 0 Homo sapiens C___2294239_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || MIM:171060|PharmGKB:PA268 rs31655 hCV2294239 || ATP-binding cassette, sub-family B (MDR/TAP), member 4 NM_000443|NM_018849|NM_018850 AGCCACTGGACATTGAGTTTCTTTG[C/T]TTCTTGACCATCGAGAAGCTGAAAA 86873728 NCBI Build 36.2 Human 7q,7q21.12a,7q21.12,7q21.1,7q21,7q2 7 0 0 0 0 Homo sapiens C___2307581_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT|UGT1H|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|MGC29860|UDPGT|UGT1G|UGT1C|GNT1|UGT1|UDPGT|UGT1A|HUG-BR1|LUGP4|UDPGT|HLUGP4|UGT1AI|UDPGT|UGT1D|HUG-BR2 C/T S488F||S489F|S485F|S485F|S485F|S489F|S489F|S485F|S220F MIM:191740|PharmGKB:PA420|MIM:606435|MIM:606428|MIM:606429|MIM:606430|MIM:606431|PharmGKB:PA37181|MIM:606432|PharmGKB:PA37182|MIM:606433|PharmGKB:PA37183|MIM:606434|PharmGKB:PA419 hCV2307581 Mis-sense Mutation||Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4 NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 GACCTCACCTGGTACCAGTACCATT[C/T]CTTGGACGTGATTGGTTTCCTCTTG 234345805 NCBI Build