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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG7_chr3_11267397_11562665 | 11519539 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0290 | 1 | 292 | 0.0034 | -19 | c.208 others(40): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38325898 | TGTTTGTT others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(83): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0079a0001c0001t0001g0094a0001c0001t0002g0050others(83): Show | 86 | 236 | 0.3644 | -19 | c.364 others(36): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6944654 | TGGGTCAG others(12): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01433.hp1 others(24): Show |
a0001a0003a0008 | a0001c0049a0003c0013a0003c0015others(3): Show | a0001c0049t0001a0003c0013t0001a0003c0013t0005others(5): Show | a0001c0049t0001g0025a0003c0013t0001g0012a0003c0013t0001g0027others(15): Show | 27 | 414 | 0.0652 | -19 | c.*28 others(30): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2334 | chr12 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25730301 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0042 | a0042c0033 | a0042c0033t0001 | a0042c0033t0001g0195 | 1 | 300 | 0.0033 | -19 | c.741 others(36): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 3/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25730310 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(266): Show |
a0001a0002a0003others(46): Show | a0001c0001a0001c0014a0001c0019others(70): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(79): Show | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0017others(266): Show | 269 | 300 | 0.8967 | -19 | c.741 others(36): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 3/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 300 | 0.0033 | -19 | c.449 others(38): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160653603 | ATACATAT others(12): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02559.hp2 others(16): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0008a0001c0002t0007a0001c0002t0011others(9): Show | a0001c0001t0008g0173a0001c0002t0007g0167a0001c0002t0007g0223others(16): Show | 19 | 236 | 0.0805 | -19 | c.676 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755835 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0025 | a0025c0038 | a0025c0038t0022 | a0025c0038t0022g0133 | 1 | 236 | 0.0042 | -19 | c.-33 others(40): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755837 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0009 | a0009c0018 | a0009c0018t0021 | a0009c0018t0021g0205 | 1 | 236 | 0.0042 | -19 | c.-33 others(40): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112715391 | CCCCCACA others(12): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(2): Show | a0001c0001t0001g0065a0001c0002t0001g0032a0001c0002t0008g0066others(3): Show | 6 | 254 | 0.0236 | -19 | c.39+ others(36): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112778806 | TGAGTAGC others(12): Show |
T | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0005 | 1 | 254 | 0.0039 | -19 | c.40- others(34): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112779239 | TGGAGTAG others(12): Show |
T | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0176 | 1 | 254 | 0.0039 | -19 | c.40- others(34): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112779348 | TGAGTAGC others(12): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0017 | a0001c0017t0076 | a0001c0017t0076g0154 | 1 | 254 | 0.0039 | -19 | c.40- others(34): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112873824 | TCCTGGGA others(12): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00642.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(6): Show | a0001c0002t0006a0001c0004t0006a0001c0004t0028others(11): Show | a0001c0002t0006g0014a0001c0004t0006g0058a0001c0004t0006g0061others(27): Show | 30 | 254 | 0.1181 | -19 | c.316 others(36): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 27/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11C_chrX_139721348_139938053 | 139742873 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01952.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0179a0001c0001t0003g0207a0001c0001t0004g0206others(14): Show | 17 | 234 | 0.0727 | -19 | c.303 others(36): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139742875 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02109.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0002 | a0001c0001t0002g0057a0001c0001t0004g0197a0001c0001t0004g0199others(5): Show | 8 | 234 | 0.0342 | -19 | c.303 others(36): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139742877 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 234 | 0.0043 | -19 | c.303 others(36): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(12): Show |
G | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02615.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0051a0001c0007t0001g0132 | 2 | 380 | 0.0053 | -19 | c.-29 others(30): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17016035 | CTTTCCCT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0025 | a0001c0003t0001a0001c0004t0001a0001c0025t0001 | a0001c0003t0001g0148a0001c0004t0001g0255a0001c0004t0001g0256others(3): Show | 6 | 366 | 0.0164 | -19 | c.-43 others(30): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 4108 | chr1 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193418121 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02293.hp1 HG03239.hp1 HG03239.hp2 others(5): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0021others(1): Show | a0001c0001t0003a0002c0002t0001a0008c0021t0005others(1): Show | a0001c0001t0003g0177a0002c0002t0001g0024a0002c0002t0001g0080others(5): Show | 8 | 302 | 0.0265 | -19 | c.284 others(38): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193431745 | CATATATA others(12): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 302 | 0.0033 | -19 | c.284 others(38): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193516778 | TGCATTCT others(12): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0054 | 1 | 302 | 0.0033 | -19 | c.61- others(34): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP1A1_chr1_116368244_116409774 | 116386126 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 336 | 0.0060 | -19 | c.184 others(36): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1A3_chr19_41961582_41999230 | 41976783 | TTTATTTA others(12): Show |
T | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 282 | 0.0036 | -19 | c.194 others(36): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 14/22 | chr19 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0249a0001c0001t0003g0298 | 2 | 408 | 0.0049 | -19 | c.110 others(38): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP23_chr12_57936567_57964148 | 57941469 | CCTCGCCC others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0045a0001c0002t0010g0046 | 2 | 393 | 0.0051 | -19 | c.-23 others(28): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 97 | chr12 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3966363 | GTTTTTTT others(12): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(35): Show | a0001c0001t0001g0188a0001c0003t0001g0069a0001c0003t0001g0101others(81): Show | 88 | 332 | 0.2651 | -19 | c.-20 others(30): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89651348 | GGCGATCC others(12): Show |
G | intron_variant | MODIFIER | HG02129.hp2 HG02132.hp2 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0189a0001c0001t0001g0219a0001c0001t0008g0161others(1): Show | 4 | 332 | 0.0121 | -19 | c.208 others(36): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130902284 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0272a0001c0001t0001g0273a0001c0001t0001g0274others(32): Show | 35 | 382 | 0.0916 | -19 | c.6+7 others(32): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP4A_chr19_35545031_35568658 | 35561343 | GTTTCACA others(12): Show |
G | intron_variant | MODIFIER | HG02135.hp1 | a0010 | a0010c0031 | a0010c0031t0001 | a0010c0031t0001g0183 | 1 | 426 | 0.0024 | -19 | c.421 others(34): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 4/21 | chr19 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 668430 | GCTACCCC others(12): Show |
G | downstream_gene_variant | MODIFIER | NA18965.hp1 NA18983.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005 | 4 | 394 | 0.0102 | -19 | c.*40 others(30): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 4005 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669491 | GCTACCCC others(12): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 NA18961.hp2 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 394 | 0.0076 | -19 | c.*29 others(30): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 2944 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669553 | GCCATGCT others(12): Show |
G | downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | -19 | c.*29 others(30): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 2882 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669647 | CCCATGCT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 5 | 394 | 0.0127 | -19 | c.*28 others(30): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 2788 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669666 | GCCATGCT others(12): Show |
G | downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | -19 | c.*28 others(30): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 2769 | chr4 | TogoVar | ||||||
ATP5MF_chr7_99453195_99471167 | 99466717 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0048a0001c0001t0001g0053 | 3 | 346 | 0.0087 | -19 | c.-59 others(28): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 551 | chr7 | TogoVar | ||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 416 | 0.0024 | -19 | c.-7- others(32): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123735160 | TGTGTGTC others(12): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0038a0001c0001t0005g0039a0001c0001t0005g0041others(7): Show | 10 | 222 | 0.0451 | -19 | c.732 others(34): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 7/19 | chr12 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10754563 | TTTTCTTT others(12): Show |
T | intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0319 | 1 | 354 | 0.0028 | -19 | c.283 others(34): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1E1_chr22_17587136_17633749 | 17631687 | TATATATA others(12): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 370 | 0.0027 | -19 | c.-30 others(30): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2939 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631688 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0103 | 1 | 370 | 0.0027 | -19 | c.-30 others(30): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2940 | chr22 | TogoVar | ||||||
ATP6V1G2_chr6_31539444_31551608 | 31540148 | ACCCTCCT others(12): Show |
A | downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 435 | 0.0023 | -19 | c.*52 others(30): Show |
ATP6V1G2 | ENSG00000213760.11 | transcript | ENST00000303892.10 | protein_coding | 4295 | chr6 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755725 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG02896.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272a0001c0001t0001g0283 | 2 | 286 | 0.0070 | -19 | c.127 others(36): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755726 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03239.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0280 | 2 | 286 | 0.0070 | -19 | c.127 others(36): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755730 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 286 | 0.0035 | -19 | c.127 others(36): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755732 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 286 | 0.0035 | -19 | c.127 others(36): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755734 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 286 | 0.0035 | -19 | c.127 others(36): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57717547 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01168.hp1 others(22): Show |
a0001a0004a0010 | a0001c0001a0001c0016a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(22): Show | 25 | 314 | 0.0796 | -19 | c.182 others(38): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1787728 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp1 others(83): Show |
a0000a0001a0002others(8): Show | a0000c0023a0000c0038a0000c0043others(26): Show | a0000c0023t0007a0000c0038t0007a0000c0043t0008others(33): Show | a0000c0023t0007g0036a0000c0023t0007g0048a0000c0038t0007g0178others(82): Show | 86 | 390 | 0.2205 | -19 | c.307 others(36): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 24/28 | chr19 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50054791 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02717.hp2 others(5): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0001c0001t0015a0001c0001t0020others(5): Show | a0001c0001t0001g0253a0001c0001t0015g0012a0001c0001t0020g0024others(5): Show | 8 | 254 | 0.0315 | -19 | c.88- others(34): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar |