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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDCD6_chr5_266646_319974 | 318246 | C | CACCTCCC others(679): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 360 | 0.0028 | 686 | c.*37 others(697): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3273 | chr5 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8662119 | T | TAATTATA others(679): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0002g0021a0001c0001t0003g0062a0001c0002t0001g0020others(5): Show | 8 | 106 | 0.0755 | 686 | c.862 others(703): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39040063 | T | TTATATAT others(679): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 170 | 0.0059 | 686 | c.106 others(705): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167968 | T | TTCTCCCC others(679): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0298 | 1 | 312 | 0.0032 | 686 | c.306 others(705): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PUS7_chr7_105451503_105527271 | 105511135 | C | CATTCTCC others(679): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01069.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0017 | a0001c0001t0002g0300a0001c0001t0002g0301a0001c0001t0002g0302others(25): Show | 28 | 350 | 0.0800 | 686 | c.-32 others(703): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PUS7_chr7_105451503_105527271 | 105511135 | C | CATTCTCC others(679): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 | 1 | 350 | 0.0029 | 686 | c.-32 others(703): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492486 | C | CTTCCCGG others(679): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0094 | 1 | 295 | 0.0034 | 686 | c.126 others(705): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79555282 | A | AGTGGTGG others(679): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0047 | 1 | 154 | 0.0065 | 686 | c.-32 others(707): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(679): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0243 | 1 | 308 | 0.0033 | 686 | c.-75 others(705): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971134 | A | ATGGTGGG others(679): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02965.hp1 HG03098.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035a0001c0002t0002g0231 | 3 | 384 | 0.0078 | 686 | c.157 others(705): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77356681 | C | CCCCCTCC others(679): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 158 | 0.0063 | 686 | c.22+ others(703): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(679): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219a0001c0001t0001g0246 | 2 | 350 | 0.0057 | 686 | c.624 others(701): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(679): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0096 | 1 | 373 | 0.0027 | 686 | c.115 others(703): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221465 | G | GTCTCTCT others(679): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0150 | 1 | 190 | 0.0053 | 686 | c.719 others(705): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TCF25_chr16_89868592_89916379 | 89908688 | A | ACCTCCCT others(679): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 300 | 0.0033 | 686 | c.179 others(705): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TCF25_chr16_89868592_89916379 | 89908710 | C | CCTCCCTC others(679): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 300 | 0.0033 | 686 | c.179 others(705): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TCF25_chr16_89868592_89916379 | 89908710 | C | CCTCCCTC others(679): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(51): Show |
a0001a0008 | a0001c0001a0001c0010a0008c0011 | a0001c0001t0001a0001c0010t0001a0008c0011t0001 | a0001c0001t0001g0002a0001c0001t0001g0055a0001c0001t0001g0099others(51): Show | 54 | 300 | 0.1800 | 686 | c.179 others(705): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TCF25_chr16_89868592_89916379 | 89908710 | C | CCTCCCTC others(679): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 300 | 0.0033 | 686 | c.179 others(705): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TCF25_chr16_89868592_89916379 | 89908710 | C | CCTCCCTC others(679): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 300 | 0.0033 | 686 | c.179 others(705): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TH_chr11_2158929_2176815 | 2161832 | A | ACACCCCT others(679): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0095 | 1 | 388 | 0.0026 | 686 | c.*24 others(697): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2096 | chr11 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121748125 | G | GCTGGGGT others(679): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0044 | 1 | 314 | 0.0032 | 686 | c.189 others(701): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMPRSS2_chr21_41459305_41513158 | 41474832 | T | TAAGGAGG others(679): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0327 | 1 | 382 | 0.0026 | 686 | c.728 others(703): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930877 | A | AAGGGTCA others(679): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 466 | 0.0022 | 686 | c.*47 others(697): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4492 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273358 | T | TTATATAT others(679): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 272 | 0.0037 | 686 | c.*29 others(697): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2245 | chr11 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(679): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 272 | 0.0037 | 686 | c.*29 others(697): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(679): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 334 | 0.0030 | 686 | c.657 others(701): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UBE2E3_chr2_180975605_181068425 | 181021557 | T | TTCCTTCC others(679): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 338 | 0.0030 | 686 | c.246 others(705): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(679): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 338 | 0.0030 | 686 | c.246 others(705): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(679): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 338 | 0.0030 | 686 | c.246 others(705): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UMAD1_chr7_7635752_7884223 | 7679092 | T | TATAAATA others(679): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0162 | 1 | 250 | 0.0040 | 686 | c.82+ others(701): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VCX3A_chrX_6528618_6540118 | 6533242 | A | ACACCACC others(679): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 74 | 0.0135 | 686 | c.*50 others(695): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 375 | chrX | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(679): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 | 1 | 326 | 0.0031 | 686 | c.483 others(701): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(679): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0214 | 1 | 246 | 0.0041 | 686 | c.-10 others(703): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(679): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02809.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0108a0001c0001t0001g0133 | 4 | 322 | 0.0124 | 686 | c.4-1 others(699): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668975 | G | GGGGGGGT others(680): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0131 | 1 | 360 | 0.0028 | 687 | c.170 others(708): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCC6_chr16_16144565_16228494 | 16172204 | A | ATAAATGA others(680): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 357 | 0.0028 | 687 | c.278 others(706): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
ARHGAP15_chr2_143124419_143773352 | 143314758 | A | ATATATAA others(680): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02280.hp2 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0039others(7): Show | 10 | 162 | 0.0617 | 687 | c.474 others(706): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 6/13 | chr2 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835512 | A | AGGCCCCG others(680): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0007 | 1 | 391 | 0.0026 | 687 | c.*36 others(698): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3495 | chr19 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(680): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 300 | 0.0033 | 687 | c.-70 others(696): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241570448 | G | GTCTGAGC others(680): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0060 | 1 | 434 | 0.0023 | 687 | c.513 others(702): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C20orf96_chr20_265863_295750 | 279046 | G | GGGAGGGC others(680): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0122 | 1 | 410 | 0.0024 | 687 | c.465 others(702): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51899885 | T | TTGGTAGA others(680): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 156 | 0.0064 | 687 | c.279 others(706): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51899885 | T | TTGGTAGA others(680): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 156 | 0.0064 | 687 | c.279 others(706): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(680): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0085 | 1 | 376 | 0.0027 | 687 | c.63+ others(700): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121255344 | A | ATATATAT others(680): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02273.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0302a0003c0003t0001g0306 | 2 | 330 | 0.0061 | 687 | c.907 others(702): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(680): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0035 | 1 | 58 | 0.0172 | 687 | c.234 others(708): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(680): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0323 | 1 | 460 | 0.0022 | 687 | c.193 others(704): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(680): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0228 | 1 | 460 | 0.0022 | 687 | c.193 others(704): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544780 | T | TCGTCTCC others(680): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0162 | 1 | 410 | 0.0024 | 687 | c.-22 others(704): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544825 | C | CCTCCCCC others(680): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0260 | 1 | 410 | 0.0024 | 687 | c.-22 others(704): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |