| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PIWIL1_chr12_130332887_130377637 | 130338253 | C | CGGGGTCG others(499): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0300 | 1 | 425 | 0.0024 | 506 | c.-13 others(521): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(499): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0088 | 1 | 227 | 0.0044 | 506 | c.*23 others(517): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | ||||||
| PTPN4_chr2_119754922_119989899 | 119843930 | A | ACCCCCCC others(499): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0012 | 1 | 252 | 0.0040 | 506 | c.139 others(525): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PXDN_chr2_1626887_1749515 | 1720263 | G | GAGAGGGA others(499): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0068 | 1 | 322 | 0.0031 | 506 | c.200 others(525): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(499): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 295 | 0.0034 | 506 | c.715 others(523): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 468030 | G | GTCAGGGA others(499): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(31): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0003g0060a0001c0001t0003g0180a0001c0001t0003g0213others(31): Show | 34 | 295 | 0.1153 | 506 | c.809 others(523): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 468030 | G | GTCAGGGA others(499): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0050 | 1 | 295 | 0.0034 | 506 | c.809 others(523): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAPGEF1_chr9_131571775_131745076 | 131586841 | A | AACACACA others(499): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0033 | a0001c0004t0002g0046a0001c0004t0002g0047a0001c0004t0002g0048others(5): Show | 8 | 368 | 0.0217 | 506 | c.323 others(523): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(499): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0119 | 1 | 312 | 0.0032 | 506 | c.188 others(525): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(499): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0112 | 1 | 133 | 0.0075 | 506 | c.351 others(525): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80963587 | G | GTGCGGCC others(499): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0013 | a0001c0013t0089 | a0001c0013t0089g0047 | 1 | 196 | 0.0051 | 506 | c.393 others(523): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80963702 | G | GTGCGGCC others(499): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0037 | a0001c0037t0004 | a0001c0037t0004g0145 | 1 | 196 | 0.0051 | 506 | c.394 others(523): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80963702 | G | GTGCGGCC others(499): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0074 | a0001c0074t0032 | a0001c0074t0032g0061 | 1 | 196 | 0.0051 | 506 | c.394 others(523): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80963702 | G | GTGCGGCC others(499): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0041 | a0001c0041t0004 | a0001c0041t0004g0175 | 1 | 196 | 0.0051 | 506 | c.394 others(523): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934041 | A | AGGCTGCT others(499): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0313 | 1 | 434 | 0.0023 | 506 | c.843 others(523): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SARDH_chr9_133658560_133743352 | 133668591 | T | TCCCCTTA others(499): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01258.hp2 HG03453.hp1 others(4): Show |
a0003a0009 | a0003c0003a0003c0013a0009c0047 | a0003c0003t0003a0003c0003t0004a0003c0013t0004others(1): Show | a0003c0003t0003g0045a0003c0003t0003g0158a0003c0003t0003g0197others(4): Show | 7 | 262 | 0.0267 | 506 | c.249 others(525): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133668591 | T | TCCCCTTA others(499): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG02486.hp2 others(2): Show |
a0002a0003 | a0002c0005a0002c0008a0002c0021others(1): Show | a0002c0005t0003a0002c0008t0003a0002c0021t0003others(1): Show | a0002c0005t0003g0114a0002c0005t0003g0125a0002c0008t0003g0059others(2): Show | 5 | 262 | 0.0191 | 506 | c.249 others(525): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288549 | C | CCCCGTGT others(499): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0234 | 1 | 290 | 0.0035 | 506 | c.166 others(523): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SHC2_chr19_411589_466033 | 433378 | G | GTCTGTGA others(499): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 212 | 0.0047 | 506 | c.111 others(525): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(499): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 222 | 0.0045 | 506 | c.914 others(525): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
| SLC37A3_chr7_140328752_140403530 | 140387779 | A | AATATAAA others(499): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0228a0002c0002t0002g0234 | 2 | 346 | 0.0058 | 506 | c.-70 others(523): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 965110 | A | ACCCCAGT others(499): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18963.hp2 NA21309.hp2 |
a0002a0007a0009 | a0002c0003a0007c0016a0009c0013 | a0002c0003t0001a0007c0016t0001a0009c0013t0001 | a0002c0003t0001g0165a0007c0016t0001g0135a0009c0013t0001g0164 | 3 | 190 | 0.0158 | 506 | c.72+ others(523): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1221590 | G | GTCTCTGC others(499): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 190 | 0.0053 | 506 | c.719 others(525): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1221775 | C | CTGTCTCT others(499): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 190 | 0.0053 | 506 | c.719 others(525): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNX9_chr6_157818246_157950077 | 157827089 | C | CATATATT others(499): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 302 | 0.0033 | 506 | c.12+ others(521): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SNX9_chr6_157818246_157950077 | 157827089 | C | CATATATT others(499): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 302 | 0.0033 | 506 | c.12+ others(521): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SRBD1_chr2_45383680_45616267 | 45587092 | T | TTAAATTA others(499): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093 | 1 | 358 | 0.0028 | 506 | c.649 others(523): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(499): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | 506 | c.*64 others(517): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(499): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 422 | 0.0024 | 506 | c.*64 others(517): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642232 | G | GGGGGGGG others(499): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 422 | 0.0024 | 506 | c.*64 others(517): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4382 | chr20 | TogoVar | ||||||
| ST3GAL3_chr1_43702536_43936159 | 43905897 | T | TCACCTCC others(499): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266a0001c0001t0001g0267a0001c0001t0001g0268others(5): Show | 8 | 274 | 0.0292 | 506 | c.744 others(523): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(499): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 258 | 0.0039 | 506 | c.113 others(525): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TMEM120B_chr12_121707752_121787068 | 121747425 | C | TGGGAGGC others(499): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 314 | 0.0032 | 506 | c.189 others(521): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
| TMEM120B_chr12_121707752_121787068 | 121747733 | G | TCTGGGGT others(499): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0208 | 1 | 314 | 0.0032 | 506 | c.189 others(521): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(499): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0049 | 1 | 334 | 0.0030 | 506 | c.657 others(521): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | HG01975.hp2 NA19007.hp1 |
a0130a0138 | a0130c0056a0138c0063 | a0130c0056t0003a0138c0063t0002 | a0130c0056t0003g0150a0138c0063t0002g0156 | 2 | 242 | 0.0083 | 506 | c.106 others(525): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | ||||||
| TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0007 | a0007c0003 | a0007c0003t0002 | a0007c0003t0002g0157 | 1 | 242 | 0.0041 | 506 | c.106 others(525): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | ||||||
| TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0033 | a0033c0160 | a0033c0160t0002 | a0033c0160t0002g0024 | 1 | 242 | 0.0041 | 506 | c.106 others(525): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | ||||||
| TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0136 | a0136c0060 | a0136c0060t0003 | a0136c0060t0003g0138 | 1 | 242 | 0.0041 | 506 | c.106 others(525): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | ||||||
| TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0021 | a0021c0011 | a0021c0011t0001 | a0021c0011t0001g0149 | 1 | 242 | 0.0041 | 506 | c.106 others(525): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | ||||||
| TTN_chr2_178739405_178812423 | 178757148 | G | GCTTTAAG others(499): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0230 | 1 | 370 | 0.0027 | 506 | c.103 others(527): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
| TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | HG01975.hp1 NA18984.hp2 NA19007.hp2 |
a0005a0007a0028 | a0005c0005a0007c0008a0028c0026 | a0005c0005t0003a0007c0008t0003a0028c0026t0003 | a0005c0005t0003g0226a0007c0008t0003g0063a0028c0026t0003g0217 | 3 | 370 | 0.0081 | 506 | c.103 others(527): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
| TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0228 | 1 | 370 | 0.0027 | 506 | c.103 others(527): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
| TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19060.hp2 |
a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0015 | 2 | 370 | 0.0054 | 506 | c.103 others(527): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
| TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0155 | 1 | 370 | 0.0027 | 506 | c.103 others(527): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
| TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0206 | 1 | 370 | 0.0027 | 506 | c.103 others(527): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
| TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(499): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0216 | 1 | 370 | 0.0027 | 506 | c.103 others(527): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
| U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(499): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0273 | 1 | 394 | 0.0025 | 506 | c.129 others(523): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| VCX2_chrX_8164944_8176267 | 8169895 | C | CCCCTCCC others(499): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0027 | a0027c0034 | a0027c0034t0001 | a0027c0034t0001g0041 | 1 | 115 | 0.0087 | 506 | c.*13 others(515): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 48 | chrX | TogoVar | ||||||
| VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(499): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 246 | 0.0041 | 506 | c.53- others(519): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |