regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKAR_chr2_189669670_189751647 | 189742865 | GACACACA others(45): Show |
G | intron_variant | MODIFIER | HG01069.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0196 | 1 | 296 | 0.0034 | -52 | c.381 others(69): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140458943 | AGCATATA others(45): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0288 | 2 | 322 | 0.0062 | -52 | c.148 others(69): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKRD11_chr16_89262630_89495561 | 89328603 | AGAGGCCC others(45): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02809.hp1 |
a0001a0008a0029 | a0001c0018a0008c0059a0029c0049 | a0001c0018t0001a0008c0059t0001a0029c0049t0001 | a0001c0018t0001g0266a0008c0059t0001g0264a0029c0049t0001g0265 | 3 | 310 | 0.0097 | -52 | c.-59 others(71): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89328809 | CGGAGGCC others(45): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG02258.hp1 others(11): Show |
a0001a0002a0010others(3): Show | a0001c0001a0001c0007a0001c0022others(6): Show | a0001c0001t0001a0001c0007t0001a0001c0022t0001others(8): Show | a0001c0001t0001g0020a0001c0007t0001g0092a0001c0022t0001g0123others(11): Show | 14 | 310 | 0.0452 | -52 | c.-59 others(71): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
ANKRD31_chr5_75063297_75241878 | 75206230 | AAAAAAAA others(45): Show |
A | intron_variant | MODIFIER | NA18949.hp1 NA18953.hp2 NA18956.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0094a0003c0003t0001g0104a0003c0003t0001g0105others(2): Show | 5 | 334 | 0.0150 | -52 | c.403 others(67): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 5/25 | chr5 | TogoVar | ||||||
ANKS1A_chr6_34884255_35096406 | 34991651 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | NA18948.hp2 NA18960.hp2 NA18965.hp2 others(2): Show |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0002a0003c0008t0001 | a0001c0002t0002g0019a0003c0008t0001g0046a0003c0008t0001g0047others(2): Show | 5 | 320 | 0.0156 | -52 | c.130 others(71): Show |
ANKS1A | ENSG00000064999.16 | transcript | ENST00000360359.5 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ANTXR1_chr2_69008179_69254327 | 69096278 | AAGGAAGG others(45): Show |
A | intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 206 | 0.0049 | -52 | c.703 others(69): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANTXR1_chr2_69008179_69254327 | 69096286 | AAGGGAGG others(45): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01496.hp1 HG02258.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0038a0001c0001t0001g0135others(8): Show | 11 | 206 | 0.0534 | -52 | c.703 others(69): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANTXR2_chr4_79896146_80078229 | 80015871 | GAAAGGAA others(45): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0036 | 1 | 268 | 0.0037 | -52 | c.945 others(69): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 11/16 | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168155871 | TATATTAT others(45): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03453.hp1 HG03471.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0096a0003c0004t0001g0220a0003c0004t0001g0224others(1): Show | 4 | 284 | 0.0141 | -52 | c.196 others(69): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95004706 | GGGGGAGG others(45): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0146a0001c0001t0001g0147others(2): Show | 5 | 182 | 0.0275 | -52 | c.197 others(69): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AP3S2_chr15_89825599_89898994 | 89844221 | TTCTTTCT others(45): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp2 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0186a0002c0002t0013g0187a0002c0002t0013g0310 | 3 | 312 | 0.0096 | -52 | c.346 others(69): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
ARC_chr8_142606049_142619479 | 142610013 | TCAGGGGA others(45): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp1 others(95): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0014a0001c0001t0002g0044others(9): Show | 98 | 420 | 0.2333 | -52 | c.*25 others(63): Show |
ARC | ENSG00000198576.4 | transcript | ENST00000356613.4 | protein_coding | 1035 | chr8 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97218909 | GTGTGTGT others(45): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020a0001c0002t0002g0021 | 2 | 242 | 0.0083 | -52 | c.*71 others(63): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 3269 | chr10 | TogoVar | ||||||
ARHGAP24_chr4_85470150_86007666 | 85487450 | TATATTAT others(45): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0100 | 1 | 108 | 0.0093 | -52 | c.-21 others(71): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1955003 | CAGGTGCT others(45): Show |
C | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0067 | a0001c0067t0001 | a0001c0067t0001g0063 | 1 | 363 | 0.0028 | -52 | c.352 others(71): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1955039 | TTTCTGGA others(45): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0011 | a0011c0138 | a0011c0138t0011 | a0011c0138t0011g0353 | 1 | 363 | 0.0028 | -52 | c.352 others(71): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1955435 | GGTGCACT others(45): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01243.hp2 others(37): Show |
a0001a0002a0011others(2): Show | a0001c0007a0001c0010a0001c0011others(20): Show | a0001c0007t0001a0001c0007t0003a0001c0010t0001others(28): Show | a0001c0007t0001g0222a0001c0007t0003g0143a0001c0007t0003g0346others(37): Show | 40 | 363 | 0.1102 | -52 | c.352 others(71): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3470863 | CGTGGGCA others(45): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01515.hp1 HG02004.hp2 others(2): Show |
a0004 | a0004c0010a0004c0029 | a0004c0010t0002a0004c0029t0002 | a0004c0010t0002g0057a0004c0010t0002g0058a0004c0010t0002g0059others(2): Show | 5 | 334 | 0.0150 | -52 | c.102 others(71): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARHGEF28_chr5_73621196_73946990 | 73741375 | GTGTGTGT others(45): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG00741.hp2 others(13): Show |
a0001a0002a0003others(8): Show | a0001c0021a0001c0025a0002c0002others(10): Show | a0001c0021t0008a0001c0025t0005a0002c0002t0001others(11): Show | a0001c0021t0008g0102a0001c0025t0005g0131a0002c0002t0001g0182others(13): Show | 16 | 188 | 0.0851 | -52 | c.34- others(67): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGEF28_chr5_73621196_73946990 | 73741377 | GTGTGTGT others(45): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01071.hp1 others(19): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0006a0003c0005others(15): Show | a0002c0002t0001a0002c0002t0002a0002c0006t0004others(18): Show | a0002c0002t0001g0003a0002c0002t0001g0130a0002c0002t0002g0159others(19): Show | 22 | 188 | 0.1170 | -52 | c.34- others(67): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGEF7_chr13_111110310_111310732 | 111254839 | GCCCAGAA others(45): Show |
G | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0246 | 1 | 274 | 0.0037 | -52 | c.950 others(71): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45899673 | ATATATGG others(45): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 318 | 0.0031 | -52 | c.536 others(71): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARL16_chr17_81676187_81688797 | 81686829 | TCCGGCCA others(45): Show |
T | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | -52 | c.-31 others(63): Show |
ARL16 | ENSG00000214087.9 | transcript | ENST00000622299.5 | protein_coding | 3033 | chr17 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406008 | AGTCTTCC others(45): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 HG02135.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0006a0002c0001t0001 | a0001c0003t0006g0158a0002c0001t0001g0077 | 2 | 210 | 0.0095 | -52 | c.*26 others(63): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 331 | chr2 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218201 | AATATATA others(45): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01071.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(19): Show | 27 | 410 | 0.0659 | -52 | c.671 others(69): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219360 | AATATATA others(45): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG02015.hp1 HG02015.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0020a0001c0001t0001g0194a0001c0001t0001g0202others(12): Show | 15 | 410 | 0.0366 | -52 | c.670 others(69): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219392 | ATATTTGT others(45): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03130.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0086a0001c0001t0001g0088 | 3 | 410 | 0.0073 | -52 | c.670 others(69): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219417 | ATATGTAT others(45): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 410 | 0.0024 | -52 | c.670 others(69): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104097809 | AGTTCTAC others(45): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG01168.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0004a0002c0002t0002a0002c0003t0006others(1): Show | a0001c0001t0004g0013a0001c0001t0004g0024a0001c0001t0004g0065others(6): Show | 13 | 368 | 0.0353 | -52 | c.513 others(67): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ASPG_chr14_104080700_104120582 | 104098021 | CTGCGTTA others(45): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG02647.hp1 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0025a0002c0003t0011 | a0001c0001t0001g0116a0001c0001t0001g0139a0001c0001t0025g0243others(1): Show | 4 | 368 | 0.0109 | -52 | c.513 others(67): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ASPSCR1_chr17_81972629_82022406 | 81984945 | ACCCGCAC others(45): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0170 | 1 | 366 | 0.0027 | -52 | c.274 others(67): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATG2B_chr14_96274195_96368341 | 96308205 | TATATAAA others(45): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0006 | a0006c0007 | a0006c0007t0008 | a0006c0007t0008g0081 | 1 | 356 | 0.0028 | -52 | c.430 others(71): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325627 | TACACACA others(45): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG03098.hp1 |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0016 | a0001c0003t0013g0003a0001c0003t0016g0007 | 2 | 236 | 0.0085 | -52 | c.364 others(69): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325647 | CACACACA others(45): Show |
C | intron_variant | MODIFIER | HG03130.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0117a0001c0001t0010g0115 | 2 | 236 | 0.0085 | -52 | c.364 others(69): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38325661 | TACACACA others(45): Show |
T | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 236 | 0.0042 | -52 | c.364 others(69): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758673 | ACTCATTC others(45): Show |
A | intron_variant | MODIFIER | HG02809.hp2 NA20300.hp1 |
a0002a0014 | a0002c0076a0014c0023 | a0002c0076t0001a0014c0023t0001 | a0002c0076t0001g0027a0014c0023t0001g0232 | 2 | 300 | 0.0067 | -52 | c.654 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758809 | ACTCATTC others(45): Show |
A | intron_variant | MODIFIER | HG02896.hp1 NA18960.hp2 NA18977.hp1 |
a0004a0008 | a0004c0004a0008c0006 | a0004c0004t0001a0008c0006t0001 | a0004c0004t0001g0113a0004c0004t0001g0269a0008c0006t0001g0204 | 3 | 300 | 0.0100 | -52 | c.654 others(71): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160652889 | TTATATAA others(45): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01346.hp2 HG01516.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0002t0010a0001c0005t0016 | a0001c0001t0002g0175a0001c0001t0002g0198a0001c0002t0010g0008others(4): Show | 7 | 236 | 0.0297 | -52 | c.676 others(69): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47485808 | CACACGGG others(45): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(184): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0003a0002c0002others(44): Show | a0001c0001t0004a0001c0003t0001a0002c0002t0001others(54): Show | a0001c0001t0004g0003a0001c0001t0004g0053a0001c0001t0004g0078others(180): Show | 187 | 332 | 0.5633 | -52 | c.-38 others(67): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804253 | CCTCCTTC others(45): Show |
C | intron_variant | MODIFIER | NA18962.hp1 NA19002.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0001 | a0001c0005t0001g0086a0001c0006t0001g0184 | 2 | 254 | 0.0079 | -52 | c.163 others(67): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804305 | TCCTCCTT others(45): Show |
T | intron_variant | MODIFIER | HG02738.hp2 HG03130.hp1 HG03710.hp2 others(1): Show |
a0001a0002 | a0001c0004a0001c0005a0002c0003 | a0001c0004t0003a0001c0004t0006a0001c0005t0061others(1): Show | a0001c0004t0003g0149a0001c0004t0006g0109a0001c0005t0061g0129others(1): Show | 4 | 254 | 0.0158 | -52 | c.163 others(67): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112864351 | CAGCTTCC others(45): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03579.hp2 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0039a0001c0017t0058 | a0001c0002t0039g0212a0001c0017t0058g0053 | 2 | 254 | 0.0079 | -52 | c.299 others(71): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112864352 | AGCTTCCC others(45): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01099.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0031a0001c0039others(1): Show | a0001c0002t0007a0001c0002t0018a0001c0031t0007others(3): Show | a0001c0002t0007g0110a0001c0002t0007g0237a0001c0002t0007g0253others(6): Show | 9 | 254 | 0.0354 | -52 | c.299 others(71): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112890681 | CGAGCCCT others(45): Show |
C | downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0189 | 1 | 254 | 0.0039 | -52 | c.*88 others(63): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 3514 | chr13 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153513808 | TGAGTGTG others(45): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0020a0001c0001t0027a0001c0003t0007others(2): Show | a0001c0001t0020g0230a0001c0001t0027g0240a0001c0003t0007g0231others(2): Show | 5 | 267 | 0.0187 | -52 | c.-43 others(63): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 3833 | chrX | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25371383 | TGTGTGTG others(45): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG00741.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(25): Show | a0001c0001t0001g0036a0001c0001t0004g0040a0001c0001t0004g0046others(32): Show | 35 | 122 | 0.2869 | -52 | c.-82 others(61): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 590 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25531346 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0116 | 1 | 122 | 0.0082 | -52 | c.420 others(67): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57787400 | GCACTGCG others(45): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG00741.hp2 others(27): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(27): Show | 30 | 314 | 0.0955 | -52 | c.-26 others(71): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49861025 | AACTCTTT others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00558.hp2 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0030others(8): Show | a0001c0001t0003g0105a0001c0001t0003g0108a0001c0001t0003g0122others(38): Show | 41 | 254 | 0.1614 | -52 | c.329 others(69): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar |