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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2B3_chrX_153512642_153587929 | 153518556 | G | C | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG01243.hp1 HG01884.hp2 others(15): Show |
a0000a0001 | a0000c0008a0001c0001a0001c0003others(5): Show | a0000c0008t0021a0001c0001t0007a0001c0001t0009others(14): Show | a0000c0008t0021g0228a0001c0001t0007g0237a0001c0001t0009g0236others(14): Show | 18 | 267 | 0.0674 | 0 | c.-12 others(6): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 2/21 | chrX | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153541663 | G | A | splice_region_variant others(1): Show |
LOW | HG02976.hp2 HG03041.hp2 |
a0000a0003 | a0000c0008a0003c0009 | a0000c0008t0021a0003c0009t0005 | a0000c0008t0021g0228a0003c0009t0005g0081 | 2 | 267 | 0.0075 | 0 | c.407 others(5): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 4/21 | chrX | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153562130 | C | T | splice_region_variant others(1): Show |
LOW | HG01123.hp1 HG01928.hp1 HG01952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0121others(2): Show | 5 | 267 | 0.0187 | 0 | c.305 others(6): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 19/21 | chrX | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203711957 | T | C | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(74): Show |
a0001a0008 | a0001c0001a0001c0008a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0016others(74): Show | 77 | 318 | 0.2421 | 0 | c.203 others(6): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 12/20 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203721409 | G | A | splice_region_variant others(1): Show |
LOW | HG01346.hp1 HG03831.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0004a0001c0004t0027others(1): Show | a0001c0004t0003g0253a0001c0004t0004g0278a0001c0004t0027g0226others(1): Show | 4 | 318 | 0.0126 | 0 | c.281 others(4): Show |
p.Ala others(6): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 17/21 | 3663/8697 | 2811/3618 | 937/1205 | chr1 | TogoVar | ||
ATP2C1_chr3_130889084_131008150 | 130930533 | G | A | splice_region_variant others(1): Show |
LOW | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 382 | 0.0026 | 0 | c.117 others(5): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 3/27 | chr3 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130959276 | A | G | splice_region_variant others(1): Show |
LOW | HG02970.hp1 NA19030.hp2 |
a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0100a0003c0005t0003g0101 | 2 | 382 | 0.0052 | 0 | c.834 others(3): Show |
p.Gly others(6): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 12/28 | 1268/4994 | 834/2760 | 278/919 | chr3 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84439160 | A | G | splice_region_variant others(1): Show |
LOW | HG02738.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0163 | 1 | 432 | 0.0023 | 0 | c.987 others(5): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 11/26 | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84439531 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0003others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | a0001c0001t0001g0078a0001c0001t0001g0329a0001c0001t0001g0334others(356): Show | 359 | 432 | 0.8310 | 0 | c.120 others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 13/26 | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84448530 | A | G | splice_region_variant others(1): Show |
LOW | HG02056.hp2 NA18940.hp1 NA19004.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0002a0001c0003t0001 | a0001c0001t0003g0296a0001c0002t0002g0090a0001c0003t0001g0162 | 3 | 432 | 0.0069 | 0 | c.150 others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 16/26 | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84460646 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00733.hp2 HG01106.hp1 others(8): Show |
a0001a0002a0011 | a0001c0003a0001c0005a0002c0008others(1): Show | a0001c0003t0001a0001c0005t0001a0002c0008t0001others(1): Show | a0001c0003t0001g0023a0001c0003t0001g0024a0001c0003t0001g0289others(8): Show | 11 | 432 | 0.0255 | 0 | c.233 others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 23/26 | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84460807 | C | T | splice_region_variant others(1): Show |
LOW | HG02683.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0109 | 1 | 432 | 0.0023 | 0 | c.248 others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 24/26 | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84460808 | G | T | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG02258.hp2 HG02622.hp2 others(3): Show |
a0004 | a0004c0013a0004c0027 | a0004c0013t0001a0004c0027t0001 | a0004c0013t0001g0074a0004c0013t0001g0077a0004c0013t0001g0084others(3): Show | 6 | 432 | 0.0139 | 0 | c.248 others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 24/26 | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84462127 | T | C | missense_variant others(1): Show |
MODERATE | HG02145.hp1 HG02258.hp2 HG02622.hp2 others(4): Show |
a0004a0019 | a0004c0013a0004c0027a0019c0051 | a0004c0013t0001a0004c0027t0001a0019c0051t0009 | a0004c0013t0001g0074a0004c0013t0001g0077a0004c0013t0001g0084others(4): Show | 7 | 432 | 0.0162 | 0 | c.272 others(4): Show |
p.Leu others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 26/27 | 2798/3374 | 2720/2841 | 907/946 | chr16 | TogoVar | ||
ATP2C2_chr16_84363538_84469187 | 84463606 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(155): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0334a0001c0001t0002g0007a0001c0001t0002g0071others(155): Show | 158 | 432 | 0.3657 | 0 | c.272 others(6): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 26/26 | chr16 | TogoVar | ||||||
ATP4A_chr19_35545031_35568658 | 35551010 | C | T | missense_variant others(1): Show |
MODERATE | HG00140.hp1 | a0007 | a0007c0025 | a0007c0025t0001 | a0007c0025t0001g0149 | 1 | 426 | 0.0024 | 0 | c.298 others(4): Show |
p.Arg others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 20/22 | 3016/3721 | 2987/3108 | 996/1035 | chr19 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35558357 | C | A | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG01175.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157a0001c0001t0001g0158a0001c0001t0001g0159 | 3 | 426 | 0.0070 | 0 | c.150 others(6): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 10/21 | chr19 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46091855 | T | C | splice_region_variant others(1): Show |
LOW | HG01496.hp2 HG02145.hp2 HG02647.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018a0001c0001t0039others(6): Show | a0001c0001t0015g0012a0001c0001t0015g0218a0001c0001t0018g0040others(10): Show | 17 | 390 | 0.0436 | 0 | c.140 others(5): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1C_chr10_7783177_7812801 | 7797182 | A | G | splice_region_variant others(1): Show |
LOW | HG03041.hp2 HG03486.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0039a0001c0001t0002g0134a0001c0001t0003g0039others(1): Show | 4 | 420 | 0.0095 | 0 | c.223 others(5): Show |
ATP5F1C | ENSG00000165629.20 | transcript | ENST00000356708.12 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ATP5MC3_chr2_175171258_175186710 | 175181465 | C | G | splice_region_variant | LOW | HG03225.hp2 HG03471.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 4 | 390 | 0.0103 | 0 | c.-72 others(3): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
ATP5MF_chr7_99453195_99471167 | 99460078 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG01081.hp2 HG01175.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0013a0001c0001t0002g0022a0001c0001t0002g0023others(15): Show | 28 | 346 | 0.0809 | 0 | c.139 others(5): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103921467 | C | A | splice_region_variant others(1): Show |
LOW | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 440 | 0.0023 | 0 | c.-1+ others(4): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
ATP5MK_chr10_103384050_103401475 | 103392467 | CTT | C | splice_acceptor_variant others(2): Show |
HIGH | HG01243.hp1 HG01243.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0047 | 11 | 438 | 0.0251 | -2 | c.-9- others(11): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
ATP5MK_chr10_103384050_103401475 | 103396403 | A | G | splice_region_variant others(1): Show |
LOW | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 438 | 0.0023 | 0 | c.-29 others(6): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111449880 | G | A | splice_region_variant others(1): Show |
LOW | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 434 | 0.0023 | 0 | c.77+ others(4): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111454207 | G | A | splice_region_variant others(1): Show |
LOW | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 434 | 0.0023 | 0 | c.78- others(4): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111456758 | A | G | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02258.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0012a0001c0001t0005g0043a0001c0001t0005g0114others(2): Show | 10 | 434 | 0.0230 | 0 | c.513 others(5): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111459453 | C | T | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG03098.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0028 | 3 | 434 | 0.0069 | 0 | c.514 others(5): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
ATP5PO_chr21_33898453_33920804 | 33912405 | A | C | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG03195.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0053a0001c0002t0001g0158 | 3 | 436 | 0.0069 | 0 | c.88- others(4): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 2/6 | chr21 | TogoVar | ||||||
ATP6V0A1_chr17_42453878_42527579 | 42513986 | C | T | splice_region_variant others(1): Show |
LOW | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 320 | 0.0031 | 0 | c.224 others(6): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 20/21 | chr17 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123744882 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(178): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(159): Show | 181 | 222 | 0.8153 | 0 | c.151 others(4): Show |
p.Asn others(6): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 13/20 | 1728/6507 | 1515/2571 | 505/856 | chr12 | TogoVar | ||
ATP6V0A2_chr12_123707353_123766755 | 123751228 | G | A | missense_variant others(1): Show |
MODERATE | HG02451.hp2 HG02809.hp1 HG03209.hp1 |
a0003 | a0003c0007 | a0003c0007t0013 | a0003c0007t0013g0126a0003c0007t0013g0127a0003c0007t0013g0139 | 3 | 222 | 0.0135 | 0 | c.205 others(4): Show |
p.Arg others(6): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 16/20 | 2267/6507 | 2054/2571 | 685/856 | chr12 | TogoVar | ||
ATP6V0A4_chr7_138701294_138803196 | 138734257 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp1 | a0003 | a0003c0037 | a0003c0037t0009 | a0003c0037t0009g0345 | 1 | 376 | 0.0027 | 0 | c.157 others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138747568 | C | T | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02280.hp2 HG02897.hp1 others(2): Show |
a0002a0003a0004others(1): Show | a0002c0049a0003c0036a0003c0037others(2): Show | a0002c0049t0006a0003c0036t0001a0003c0037t0009others(2): Show | a0002c0049t0006g0044a0003c0036t0001g0046a0003c0037t0009g0345others(2): Show | 5 | 376 | 0.0133 | 0 | c.118 others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 12/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138749321 | G | GA | splice_region_variant others(1): Show |
LOW | HG03239.hp2 HG03710.hp1 HG04204.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0012others(2): Show | a0001c0001t0001a0001c0001t0012a0002c0003t0001others(3): Show | a0001c0001t0001g0058a0001c0001t0001g0304a0001c0001t0001g0309others(5): Show | 8 | 376 | 0.0213 | 1 | c.103 others(7): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 11/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138749321 | GA | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp2 HG01070.hp1 others(59): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0098others(59): Show | 62 | 376 | 0.1649 | -1 | c.103 others(7): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 11/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138752620 | C | T | splice_region_variant others(1): Show |
LOW | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0331 | 1 | 376 | 0.0027 | 0 | c.102 others(6): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 11/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138762336 | T | C | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02258.hp2 HG02615.hp1 others(4): Show |
a0001a0003a0005 | a0001c0001a0001c0005a0003c0031others(2): Show | a0001c0001t0001a0001c0005t0002a0001c0005t0005others(3): Show | a0001c0001t0001g0349a0001c0001t0001g0365a0001c0005t0002g0359others(4): Show | 7 | 376 | 0.0186 | 0 | c.512 others(5): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 7/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138769254 | A | T | splice_region_variant others(1): Show |
LOW | NA21309.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0171 | 1 | 376 | 0.0027 | 0 | c.118 others(5): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 3/21 | chr7 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86150286 | G | A | missense_variant others(1): Show |
MODERATE | HG01167.hp2 HG01891.hp2 HG02486.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111a0002c0002t0001g0297a0002c0002t0001g0298others(6): Show | 9 | 360 | 0.0250 | 0 | c.814 others(3): Show |
p.Gly others(6): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 6/8 | 883/2370 | 814/1053 | 272/350 | chr8 | TogoVar | ||
ATP6V0E1_chr5_172978771_173040445 | 172994757 | AT | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(177): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(173): Show | 180 | 292 | 0.6164 | -1 | c.105 others(6): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 172994757 | ATT | A | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02683.hp1 HG02723.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0006a0001c0001t0001g0137a0001c0001t0001g0227others(8): Show | 12 | 292 | 0.0411 | -2 | c.105 others(13): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173031700 | TCCCAGCT others(6347): Show |
T | splice_acceptor_variant others(4): Show |
HIGH | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0072 | 1 | 292 | 0.0034 | -6354 | c.*37 others(14): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ATP6V0E2_chr7_149868969_149885695 | 149878795 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(238): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0012others(46): Show | 241 | 438 | 0.5502 | 0 | c.*19 others(5): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 3/3 | chr7 | TogoVar | ||||||
ATP6V0E2_chr7_149868969_149885695 | 149878796 | G | A | splice_region_variant others(1): Show |
LOW | HG02922.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 2 | 438 | 0.0046 | 0 | c.*19 others(5): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 3/3 | chr7 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70963566 | T | C | splice_region_variant others(1): Show |
LOW | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 440 | 0.0023 | 0 | c.106 others(6): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 10/13 | chr2 | TogoVar | ||||||
ATP6V1B2_chr8_20192381_20226696 | 20210652 | T | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(397): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(199): Show | 400 | 402 | 0.9950 | 0 | c.463 others(5): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 5/13 | chr8 | TogoVar | ||||||
ATP6V1B2_chr8_20192381_20226696 | 20211172 | A | G | splice_region_variant others(1): Show |
LOW | HG02818.hp1 HG03453.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0010 | a0001c0001t0004g0155a0001c0001t0006g0154a0001c0001t0006g0156others(1): Show | 4 | 402 | 0.0100 | 0 | c.464 others(5): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 5/13 | chr8 | TogoVar | ||||||
ATP6V1B2_chr8_20192381_20226696 | 20211760 | A | T | splice_region_variant others(1): Show |
LOW | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 402 | 0.0025 | 0 | c.705 others(5): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10768716 | C | T | splice_region_variant others(1): Show |
LOW | HG02486.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0252a0002c0002t0003g0253 | 2 | 354 | 0.0057 | 0 | c.379 others(5): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 5/13 | chr2 | TogoVar |