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 | 11497357 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01071.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0008others(1): Show | a0001c0001t0001g0044a0001c0001t0001g0050a0001c0001t0001g0075others(7): Show | 10 | 292 | 0.0343 | 14 | c.208 others(35): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11497357 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 |
a0001 | a0001c0002 | a0001c0002t0015a0001c0002t0035 | a0001c0002t0015g0290a0001c0002t0035g0271 | 2 | 292 | 0.0069 | 14 | c.208 others(35): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATIC_chr2_215307059_215354764 | 215332131 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0214 | 1 | 382 | 0.0026 | 14 | c.689 others(29): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50574935 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0036 | 1 | 320 | 0.0031 | 14 | c.35- others(31): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50574937 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02922.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0206a0001c0001t0003g0066 | 2 | 320 | 0.0063 | 14 | c.35- others(31): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38329423 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01256.hp1 HG02071.hp2 others(9): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0011 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0002g0062a0001c0001t0002g0073a0001c0001t0002g0081others(9): Show | 12 | 236 | 0.0509 | 14 | c.364 others(33): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38337486 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02717.hp2 NA18995.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0002c0002t0001 | a0001c0001t0002g0101a0001c0001t0006g0143a0002c0002t0001g0182 | 3 | 236 | 0.0127 | 14 | c.363 others(31): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38365170 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18943.hp2 NA18950.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0134a0001c0001t0006g0135a0001c0001t0006g0137others(7): Show | 10 | 236 | 0.0424 | 14 | c.118 others(33): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATMIN_chr16_81030842_81052350 | 81046661 | G | GACACACA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG01168.hp2 HG02572.hp1 HG02717.hp2 others(6): Show |
a0003a0005 | a0003c0004a0005c0008 | a0003c0004t0010a0005c0008t0019a0005c0008t0043 | a0003c0004t0010g0003a0003c0004t0010g0024a0005c0008t0019g0003others(1): Show | 9 | 392 | 0.0230 | 14 | c.*17 others(25): Show |
ATMIN | ENSG00000166454.10 | transcript | ENST00000299575.5 | protein_coding | 4/4 | 1722 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
ATM_chr11_108218067_108374102 | 108273331 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0144 | 1 | 304 | 0.0033 | 14 | c.328 others(31): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 22/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317615 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0019 | a0019c0022 | a0019c0022t0002 | a0019c0022t0002g0023 | 1 | 304 | 0.0033 | 14 | c.634 others(31): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317650 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0176 | 1 | 304 | 0.0033 | 14 | c.634 others(31): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317652 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02615.hp1 HG03209.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0169a0004c0004t0004g0182a0004c0004t0004g0183 | 3 | 304 | 0.0099 | 14 | c.634 others(31): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317652 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0174 | 1 | 304 | 0.0033 | 14 | c.634 others(31): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317652 | T | TATATACA others(7): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0004 | 1 | 304 | 0.0033 | 14 | c.634 others(31): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108354058 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 304 | 0.0033 | 14 | c.878 others(31): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 60/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATN1_chr12_6922959_6947321 | 6924756 | T | TATGCCTC others(7): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0008 | 1 | 414 | 0.0024 | 14 | c.-37 others(25): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 3202 | chr12 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6925117 | C | CGTGTGTG others(7): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 HG02129.hp2 HG02622.hp2 others(3): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0005a0004c0003others(1): Show | a0002c0002t0001a0003c0005t0001a0004c0003t0001others(1): Show | a0002c0002t0001g0099a0003c0005t0001g0001a0003c0005t0001g0039others(3): Show | 6 | 414 | 0.0145 | 14 | c.-34 others(25): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2841 | chr12 | TogoVar | ||||||
ATOH1_chr4_93823753_93835964 | 93831405 | C | CCTCTCTC others(7): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00597.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0000a0001c0001t0003g0000a0001c0001t0004g0000others(1): Show | 46 | 458 | 0.1004 | 14 | c.*14 others(25): Show |
ATOH1 | ENSG00000172238.6 | transcript | ENST00000306011.6 | protein_coding | 442 | chr4 | TogoVar | ||||||
ATOH8_chr2_85748991_85796383 | 85763821 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02129.hp2 HG02602.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0004 | a0001c0001t0001g0093a0001c0001t0007g0107a0001c0001t0007g0212others(1): Show | 4 | 378 | 0.0106 | 14 | c.769 others(29): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATOH8_chr2_85748991_85796383 | 85793387 | A | AACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0112 | 1 | 378 | 0.0027 | 14 | c.*64 others(25): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2005 | chr2 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52672172 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0246 | 1 | 362 | 0.0028 | 14 | c.16+ others(29): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
ATOSB_chr9_35099117_35120862 | 35112306 | C | CCTGTCCC others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(418): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(153): Show | 421 | 432 | 0.9745 | 14 | c.-22 others(33): Show |
ATOSB | ENSG00000005238.20 | transcript | ENST00000322813.10 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
ATOSB_chr9_35099117_35120862 | 35116756 | G | GTGGGTGG others(7): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | 14 | c.-11 others(25): Show |
ATOSB | ENSG00000005238.20 | transcript | ENST00000322813.10 | protein_coding | 895 | chr9 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25777096 | C | CATGTGTG others(7): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18977.hp1 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0157a0004c0004t0001g0269 | 2 | 300 | 0.0067 | 14 | c.654 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25777096 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp2 others(11): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(7): Show | a0001c0001t0001g0272a0002c0002t0001g0033a0002c0002t0001g0190others(11): Show | 14 | 300 | 0.0467 | 14 | c.654 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25779845 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01361.hp2 others(11): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0002a0002c0076others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0076t0001others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0038a0001c0001t0001g0158others(11): Show | 14 | 300 | 0.0467 | 14 | c.654 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25789565 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01175.hp1 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0022others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0038a0001c0001t0001g0146a0001c0001t0002g0283others(8): Show | 11 | 300 | 0.0367 | 14 | c.450 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25797431 | G | GCCCCTGG others(7): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0139 | 1 | 300 | 0.0033 | 14 | c.450 others(33): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25855541 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0008 | a0008c0006 | a0008c0006t0004 | a0008c0006t0004g0004 | 1 | 300 | 0.0033 | 14 | c.449 others(31): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160560289 | G | GGTGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02809.hp1 NA19043.hp2 |
a0001 | a0001c0008a0001c0011 | a0001c0008t0019a0001c0008t0037a0001c0011t0041 | a0001c0008t0019g0030a0001c0008t0037g0023a0001c0011t0041g0001 | 3 | 236 | 0.0127 | 14 | c.*51 others(25): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2830 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160693403 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 236 | 0.0042 | 14 | c.-20 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02717.hp2 HG02809.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0029others(4): Show | a0001c0001t0002a0001c0008t0019a0001c0029t0047others(4): Show | a0001c0001t0002g0198a0001c0008t0019g0030a0001c0029t0047g0219others(4): Show | 7 | 236 | 0.0297 | 14 | c.-20 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160812020 | C | CACACAGA others(7): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0098 | 1 | 236 | 0.0042 | 14 | c.-57 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160812020 | C | CACAGAGA others(7): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18954.hp2 NA18972.hp1 |
a0001a0002a0024 | a0001c0001a0002c0003a0024c0020 | a0001c0001t0003a0002c0003t0006a0024c0020t0009 | a0001c0001t0003g0101a0002c0003t0006g0099a0024c0020t0009g0094 | 3 | 236 | 0.0127 | 14 | c.-57 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160822989 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02155.hp1 NA19004.hp2 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0044 | a0001c0002t0007g0167a0001c0002t0044g0039 | 2 | 236 | 0.0085 | 14 | c.-57 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160849618 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00738.hp1 others(30): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0117others(30): Show | 33 | 236 | 0.1398 | 14 | c.-57 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112691483 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0016 | a0001c0002t0014a0001c0016t0004 | a0001c0002t0014g0213a0001c0016t0004g0214a0001c0016t0004g0215 | 3 | 254 | 0.0118 | 14 | c.39+ others(29): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112765143 | G | GCCGCCCC others(7): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0191 | 1 | 254 | 0.0039 | 14 | c.40- others(31): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02717.hp2 NA18522.hp1 others(5): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0012others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0152a0001c0001t0010g0095others(5): Show | 8 | 254 | 0.0315 | 14 | c.441 others(29): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01993.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0089a0001c0001t0001g0094a0001c0001t0002g0191others(1): Show | 4 | 234 | 0.0171 | 14 | c.221 others(31): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139866343 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183a0001c0001t0002g0184 | 2 | 234 | 0.0086 | 14 | c.28- others(31): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139922223 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 234 | 0.0043 | 14 | c.27+ others(29): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708941 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0327 | 1 | 382 | 0.0026 | 14 | c.249 others(31): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A2_chr1_16980958_17016928 | 16994197 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(112): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(96): Show | 115 | 366 | 0.3142 | 14 | c.154 others(31): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 15/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17003585 | C | CCACACAC others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 366 | 0.0027 | 14 | c.557 others(29): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 6/28 | chr1 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG01358.hp2 others(16): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0002g0190a0001c0001t0002g0191a0001c0001t0002g0192others(16): Show | 19 | 304 | 0.0625 | 14 | c.357 others(33): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194410937 | G | GGTGTTGG others(7): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0185 | 1 | 304 | 0.0033 | 14 | c.357 others(33): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194415661 | C | CTGTTTTT others(7): Show |
intron_variant | MODIFIER | NA18978.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0276a0001c0001t0006g0278 | 2 | 304 | 0.0066 | 14 | c.340 others(33): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417396 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02886.hp2 NA18979.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0022 | a0001c0001t0003g0054a0001c0001t0003g0069a0001c0001t0010g0261others(1): Show | 4 | 304 | 0.0132 | 14 | c.340 others(33): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar |