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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NT5DC3_chr12_103767310_103846234 | 103768613 | G | GGGGAGGG others(529): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0003 | a0001c0003t0067 | a0001c0003t0067g0176 | 1 | 386 | 0.0026 | 536 | c.*92 others(547): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3696 | chr12 | TogoVar | ||||||
ODF3_chr11_191761_205258 | 194833 | A | ATGGGGAC others(529): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 388 | 0.0026 | 536 | c.-22 others(547): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 1927 | chr11 | TogoVar | ||||||
ODF3_chr11_191761_205258 | 194833 | A | ATGGGGAC others(529): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 388 | 0.0026 | 536 | c.-22 others(547): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 1927 | chr11 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22637546 | G | GCCGCCCC others(529): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 362 | 0.0028 | 536 | c.-27 others(553): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22637546 | G | GCCGCCCC others(529): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0059 | 1 | 362 | 0.0028 | 536 | c.-27 others(553): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22637546 | G | GCCGCCCC others(529): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 362 | 0.0028 | 536 | c.-27 others(553): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22637546 | G | GCCGCCCC others(529): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 362 | 0.0028 | 536 | c.-27 others(553): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22637546 | G | GCCGCCCC others(529): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0159 | 1 | 362 | 0.0028 | 536 | c.-27 others(553): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22637546 | G | GCCGCCCC others(529): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0312 | 1 | 362 | 0.0028 | 536 | c.-27 others(553): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22637546 | G | GCCGCCCC others(529): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 362 | 0.0028 | 536 | c.-27 others(553): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83950741 | G | GCACACAC others(529): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0124 | 1 | 350 | 0.0029 | 536 | c.-26 others(547): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2498 | chr16 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499572 | T | TCCATCCA others(529): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 300 | 0.0033 | 536 | c.117 others(553): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499572 | T | TCCATCCA others(529): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00609.hp1 others(44): Show |
a0001a0005a0008 | a0001c0001a0001c0022a0005c0009others(1): Show | a0001c0001t0001a0001c0022t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0034others(12): Show | 47 | 300 | 0.1567 | 536 | c.117 others(553): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499572 | T | TCCATCCA others(529): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18747.hp2 NA18975.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 4 | 300 | 0.0133 | 536 | c.117 others(553): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(529): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0127a0001c0004t0001g0131 | 2 | 300 | 0.0067 | 536 | c.117 others(553): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(529): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0198 | 1 | 250 | 0.0040 | 536 | c.309 others(555): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 165466 | G | GCTGTGAC others(529): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0020 | a0020c0081 | a0020c0081t0064 | a0020c0081t0064g0200 | 1 | 210 | 0.0048 | 536 | c.347 others(555): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(529): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0039 | a0001c0005t0039g0001 | 1 | 218 | 0.0046 | 536 | c.80+ others(553): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(529): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0177 | 1 | 218 | 0.0046 | 536 | c.80+ others(553): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(529): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0070 | 1 | 218 | 0.0046 | 536 | c.80+ others(553): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79495576 | G | GGTGCGGG others(529): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 154 | 0.0065 | 536 | c.-31 others(557): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79495576 | G | GGTGCGGG others(529): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0009 | 1 | 154 | 0.0065 | 536 | c.-31 others(557): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3310263 | T | TCTGAGGG others(529): Show |
intron_variant | MODIFIER | NA18939.hp1 NA19060.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0077 | 3 | 312 | 0.0096 | 536 | c.-10 others(555): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(529): Show |
intron_variant | MODIFIER | HG01109.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0064a0001c0001t0010g0065 | 2 | 308 | 0.0065 | 536 | c.-75 others(555): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 254311 | C | TCGCACGG others(529): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 133 | 0.0075 | 536 | c.439 others(553): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 254613 | C | CGTGACTA others(529): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0071 | 1 | 133 | 0.0075 | 536 | c.439 others(553): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 256389 | C | CGCACGGC others(529): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 133 | 0.0075 | 536 | c.439 others(553): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 256690 | C | CGTTACTA others(529): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 133 | 0.0075 | 536 | c.439 others(553): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 256892 | G | GTGACTAC others(529): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 133 | 0.0075 | 536 | c.439 others(553): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 257193 | C | CGCACGGC others(529): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0061a0001c0001t0008g0130 | 2 | 133 | 0.0150 | 536 | c.439 others(553): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 257896 | T | TGTGACTA others(529): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 133 | 0.0075 | 536 | c.439 others(555): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(529): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 133 | 0.0075 | 536 | c.351 others(555): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59750547 | T | TATATATA others(529): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 172 | 0.0058 | 536 | c.242 others(553): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934721 | G | GCGTTACA others(529): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0342 | 1 | 434 | 0.0023 | 536 | c.843 others(553): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCGB1C1_chr11_188078_199575 | 194833 | A | ATGGGGAC others(529): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 354 | 0.0028 | 536 | c.*38 others(545): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 259 | chr11 | TogoVar | ||||||
SCGB1C1_chr11_188078_199575 | 194833 | A | ATGGGGAC others(529): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 354 | 0.0028 | 536 | c.*38 others(545): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 259 | chr11 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289427 | T | TCCGTCCC others(529): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 290 | 0.0035 | 536 | c.166 others(553): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432031 | A | AGGGTGGA others(529): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0188 | 1 | 376 | 0.0027 | 536 | c.101 others(553): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SHANK1_chr19_50654255_50724802 | 50678976 | G | GTGGGGAG others(529): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0094 | 1 | 316 | 0.0032 | 536 | c.257 others(555): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176305290 | C | CCAGCCAC others(529): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 360 | 0.0028 | 536 | c.173 others(555): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SIMC1_chr5_176233424_176350989 | 176305290 | C | CCAGCCAC others(529): Show |
intron_variant | MODIFIER | NA19003.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238a0001c0001t0001g0239 | 2 | 360 | 0.0056 | 536 | c.173 others(555): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SIMC1_chr5_176233424_176350989 | 176305315 | T | TGGGGGGG others(529): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 360 | 0.0028 | 536 | c.173 others(555): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1301783 | C | GTATCACC others(529): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0001c0001t0017a0002c0004t0006 | a0001c0001t0006g0009a0001c0001t0006g0093a0001c0001t0006g0145others(5): Show | 10 | 350 | 0.0286 | 536 | c.440 others(553): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | chr20 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190041 | T | TCATTATA others(529): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0007 | a0002c0007t0048 | a0002c0007t0048g0351 | 1 | 356 | 0.0028 | 536 | c.-11 others(557): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(529): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 251 | 0.0040 | 536 | c.*34 others(545): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | ||||||
SPTSSA_chr14_34427788_34467240 | 34443514 | T | TGTGTGTG others(529): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 344 | 0.0029 | 536 | c.113 others(553): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642391 | G | GGCCCAGC others(529): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0115 | 1 | 422 | 0.0024 | 536 | c.*63 others(547): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4223 | chr20 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637474 | A | ATTATATA others(529): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031a0001c0001t0003g0032 | 2 | 268 | 0.0075 | 536 | c.*73 others(547): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3940 | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637474 | A | ATTATATA others(529): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0262 | 1 | 268 | 0.0037 | 536 | c.*73 others(547): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3940 | chr10 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(529): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0029 | a0001c0029t0003 | a0001c0029t0003g0349 | 1 | 364 | 0.0028 | 536 | c.157 others(555): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar |