view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA7_chr19_1035107_1070572 | 1049926 | T | TTCCCCAC others(193): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0010 | a0010c0008 | a0010c0008t0002 | a0010c0008t0002g0014 | 1 | 16 | 0.0625 | 200 | c.255 others(217): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289073 | C | CCCCGTGT others(193): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 266 | 0.0038 | 200 | c.*44 others(211): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3317 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289187 | C | CCGTGTCT others(193): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 272 | 0.0037 | 200 | c.*43 others(211): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3203 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289225 | C | CCCCGTGT others(193): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 274 | 0.0073 | 200 | c.*43 others(211): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3165 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289785 | C | CCCCGTGT others(193): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 253 | 0.0040 | 200 | c.*37 others(211): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2605 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236713828 | G | GGGATATG others(193): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 342 | 0.0029 | 200 | c.127 others(217): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39045473 | C | CACACACC others(193): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 275 | 0.0036 | 200 | c.130 others(219): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49947991 | T | TATATATA others(193): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065 | 1 | 104 | 0.0096 | 200 | c.34+ others(217): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530071 | G | GATATTCT others(193): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0236 | 1 | 209 | 0.0048 | 200 | c.409 others(219): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530098 | G | GATATTCT others(193): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0156 |
2 | 169 | 0.0118 | 200 | c.409 others(219): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530125 | G | GATATTCT others(193): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 216 | 0.0046 | 200 | c.409 others(219): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129331679 | T | TAAAAATA others(193): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0242 | 1 | 266 | 0.0038 | 200 | c.364 others(219): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4735254 | T | TATACATA others(193): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0327 | 1 | 48 | 0.0208 | 200 | c.151 others(217): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735254 | T | TATACATA others(193): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 48 | 0.0208 | 200 | c.151 others(217): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77367814 | A | ATATATTA others(193): Show |
intron_variant | MODIFIER | NA18957.hp1 NA19005.hp1 NA19054.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0069 |
3 | 243 | 0.0123 | 200 | c.891 others(219): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77444390 | T | TACATAGT others(193): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0162 | 1 | 208 | 0.0048 | 200 | c.105 others(221): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(193): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 36 | 0.0278 | 200 | c.667 others(215): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(193): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 36 | 0.0278 | 200 | c.667 others(215): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406065 | A | AGAGGGGG others(193): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01978.hp1 HG02083.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0009a0001c0001t0020a0001c0001t0021others(2): Show | a0001c0001t0009g0210 a0001c0001t0009g0211 a0001c0001t0009g0212 others(10): Show |
13 | 350 | 0.0371 | 200 | c.667 others(215): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107368450 | G | GTATTCCT others(193): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0164 | 1 | 6 | 0.1667 | 200 | c.298 others(219): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132727539 | C | CGCCCGGG others(193): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03471.hp1 NA19043.hp2 |
a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0126 a0001c0011t0002g0128 a0001c0011t0002g0137 |
3 | 129 | 0.0233 | 200 | c.261 others(215): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 12/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132727539 | C | CGCCCGGG others(193): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00642.hp1 others(83): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0002c0008others(6): Show | a0001c0001t0011a0002c0002t0001a0002c0002t0020others(9): Show | a0001c0001t0011g0315 a0002c0002t0001g0004 a0002c0002t0001g0005 others(80): Show |
86 | 212 | 0.4057 | 200 | c.261 others(215): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 12/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132727539 | C | CGCCCGGG others(193): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02630.hp2 others(6): Show |
a0001a0003a0007 | a0001c0010a0003c0007a0007c0013 | a0001c0010t0002a0003c0007t0002a0007c0013t0005 | a0001c0010t0002g0189 a0001c0010t0002g0190 a0001c0010t0002g0272 others(5): Show |
9 | 135 | 0.0667 | 200 | c.261 others(215): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 12/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132727539 | C | CGCCCGGG others(193): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(116): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0017a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(109): Show |
119 | 245 | 0.4857 | 200 | c.261 others(215): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 12/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132727539 | C | CGCCCGGG others(193): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0194 | 1 | 127 | 0.0079 | 200 | c.261 others(215): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 12/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132727552 | G | GAGAGGCA others(193): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0275 | 1 | 348 | 0.0029 | 200 | c.261 others(217): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 12/12 | chr12 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 1009515 | A | ACGGCCCC others(193): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0190 | 1 | 238 | 0.0042 | 200 | c.260 others(216): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2128442 | G | GCACTGCA others(193): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 298 | 0.0034 | 200 | c.806 others(215): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128546 | G | GCCCCCGC others(193): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0196 | 1 | 355 | 0.0028 | 200 | c.806 others(215): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
API5_chr11_43306996_43349529 | 43310924 | T | TTGTATAT others(193): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0075 others(6): Show |
10 | 375 | 0.0267 | 200 | c.-12 others(211): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 1071 | chr11 | TogoVar | |||||||
APOH_chr17_66207033_66234415 | 66221417 | A | AAGGAAGG others(193): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0048 | 1 | 354 | 0.0028 | 200 | c.416 others(215): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
AQP2_chr12_49945737_49963878 | 49962495 | A | ACCAGGAA others(193): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 411 | 0.0024 | 200 | c.*68 others(211): Show |
AQP2 | ENSG00000167580.8 | transcript | ENST00000199280.4 | protein_coding | 3618 | chr12 | TogoVar | |||||||
AQP5_chr12_49956872_49970682 | 49962495 | A | ACCAGGAA others(193): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 435 | 0.0023 | 200 | c.363 others(215): Show |
AQP5 | ENSG00000161798.7 | transcript | ENST00000293599.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144620226 | T | TGTGTGTG others(193): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 a0001c0001t0002g0235 |
2 | 142 | 0.0141 | 200 | c.-81 others(219): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(193): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0122 |
3 | 194 | 0.0155 | 200 | c.102 others(217): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(193): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0089 | 1 | 192 | 0.0052 | 200 | c.102 others(217): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(193): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0119 |
2 | 193 | 0.0104 | 200 | c.102 others(217): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(193): Show |
intron_variant | MODIFIER | NA18941.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0215 |
2 | 193 | 0.0104 | 200 | c.102 others(217): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72198300 | G | GAGGAGGG others(193): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0012 | 1 | 210 | 0.0048 | 200 | c.311 others(217): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1448534 | T | TGGACACA others(193): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18967.hp1 NA18988.hp1 others(2): Show |
a0001a0003a0017 | a0001c0001a0003c0002a0017c0023 | a0001c0001t0001a0003c0002t0001a0017c0023t0001 | a0001c0001t0001g0115 a0003c0002t0001g0145 a0003c0002t0001g0146 others(2): Show |
5 | 183 | 0.0273 | 200 | c.93+ others(215): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(193): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0100 | 1 | 165 | 0.0061 | 200 | c.654 others(219): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(193): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0255 | 1 | 165 | 0.0061 | 200 | c.654 others(219): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758861 | C | CCTAACTC others(193): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 263 | 0.0038 | 200 | c.654 others(219): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758861 | C | CCTAACTC others(193): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0049 | a0049c0050 | a0049c0050t0001 | a0049c0050t0001g0054 | 1 | 263 | 0.0038 | 200 | c.654 others(219): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804243 | G | GCCCTCCT others(193): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 156 | 0.0064 | 200 | c.163 others(215): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50085877 | T | TTATATAT others(193): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0126 | 1 | 191 | 0.0052 | 200 | c.29- others(217): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085963 | T | TTATATAT others(193): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 203 | 0.0049 | 200 | c.29- others(217): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79327512 | A | ATGGTTAG others(193): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0096 | 1 | 278 | 0.0036 | 200 | c.177 others(219): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105733681 | C | CCCATCCA others(193): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00673.hp2 others(64): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0011 a0001c0001t0001g0073 a0001c0001t0001g0119 others(64): Show |
67 | 69 | 0.9710 | 200 | c.355 others(219): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70004139 | A | ATATATGA others(193): Show |
intron_variant | MODIFIER | HG01175.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0029 | a0001c0001t0028g0021 a0001c0001t0029g0022 |
2 | 76 | 0.0263 | 200 | c.522 others(221): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |