view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKCZ_chr1_2045411_2190395 | 2106627 | C | CTTCAGCA others(640): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0205 | 1 | 286 | 0.0035 | 647 | c.335 others(666): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(640): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 295 | 0.0034 | 647 | c.809 others(664): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(640): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0053a0001c0002t0054 | a0001c0002t0053g0271 a0001c0002t0054g0267 |
2 | 295 | 0.0068 | 647 | c.809 others(664): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468269 | A | AGTCAGGG others(640): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0106 | 1 | 295 | 0.0034 | 647 | c.809 others(664): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(640): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0155 | 1 | 295 | 0.0034 | 647 | c.126 others(666): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(640): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 220 | 0.0046 | 647 | c.24+ others(664): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(640): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112 | 1 | 220 | 0.0046 | 647 | c.24+ others(664): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431975 | A | AGAGGGTG others(640): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 376 | 0.0027 | 647 | c.101 others(664): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401226 | C | CCCGCCCG others(640): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 242 | 0.0041 | 647 | c.*46 others(658): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4489 | chr11 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(640): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | 647 | c.*12 others(658): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(640): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 352 | 0.0028 | 647 | c.*12 others(658): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(640): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 647 | c.*12 others(658): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48384325 | G | GGAGGGAG others(640): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 322 | 0.0031 | 647 | c.909 others(662): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(640): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03654.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0084 | a0001c0001t0005g0296 a0001c0001t0008g0190 a0001c0001t0084g0298 |
3 | 322 | 0.0093 | 647 | c.597 others(664): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(640): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0281 | 1 | 322 | 0.0031 | 647 | c.597 others(664): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCGACAC others(640): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 258 | 0.0039 | 647 | c.113 others(664): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89884880 | C | CCCCTCTC others(640): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0266 | 1 | 300 | 0.0033 | 647 | c.429 others(662): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89884880 | C | CCCCTCTC others(640): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0268 | 1 | 300 | 0.0033 | 647 | c.429 others(662): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273645 | A | AACCGCCA others(640): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 392 | 0.0026 | 647 | c.228 others(666): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152383 | T | TGAGAAGG others(640): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 228 | 0.0044 | 647 | c.*50 others(658): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4641 | chr4 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029095 | A | ATCCTGAA others(640): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02300.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 a0002c0002t0001g0082 |
2 | 224 | 0.0089 | 647 | c.225 others(666): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029095 | A | ATCCTGAA others(640): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 224 | 0.0045 | 647 | c.225 others(666): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370245 | G | GTATGTGT others(640): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0399 | 1 | 468 | 0.0021 | 647 | c.-6- others(662): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VAMP2_chr17_8154149_8167948 | 8166157 | G | GTGGTTCA others(640): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0052 | 1 | 414 | 0.0024 | 647 | c.-32 others(658): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3210 | chr17 | TogoVar | |||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAGGG others(640): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02056.hp1 HG02071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0091 a0001c0001t0001g0092 others(7): Show |
10 | 290 | 0.0345 | 647 | c.205 others(666): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(640): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0053 | 1 | 383 | 0.0026 | 647 | c.-42 others(658): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(640): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02818.hp1 |
a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0024 | 2 | 383 | 0.0052 | 647 | c.-42 others(658): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919183 | A | ATATATAT others(640): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 383 | 0.0026 | 647 | c.-42 others(658): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4067 | chr19 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1290018 | T | TCCCCCGT others(641): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 295 | 0.0034 | 648 | c.*35 others(659): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2372 | chr1 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144380600 | C | CAGGATTA others(641): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 others(1): Show |
4 | 346 | 0.0116 | 648 | c.116 others(665): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380600 | C | CAGGATTA others(641): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01975.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0129 others(2): Show |
6 | 346 | 0.0173 | 648 | c.116 others(665): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380667 | T | TGGGTGTA others(641): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 346 | 0.0029 | 648 | c.116 others(665): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380667 | T | TGGGTGTA others(641): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 346 | 0.0029 | 648 | c.116 others(665): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(641): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG03225.hp2 others(3): Show |
a0002a0003a0026others(1): Show | a0002c0002a0003c0007a0026c0033others(1): Show | a0002c0002t0001a0003c0007t0002a0026c0033t0001others(1): Show | a0002c0002t0001g0039 a0003c0007t0002g0009 a0003c0007t0002g0276 others(2): Show |
6 | 350 | 0.0171 | 648 | c.135 others(665): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(641): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01167.hp1 others(19): Show |
a0002a0005a0022 | a0002c0002a0005c0005a0022c0038 | a0002c0002t0001a0005c0005t0001a0022c0038t0016 | a0002c0002t0001g0016 a0002c0002t0001g0036 a0002c0002t0001g0037 others(19): Show |
22 | 350 | 0.0629 | 648 | c.135 others(665): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(641): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0283 | 1 | 350 | 0.0029 | 648 | c.135 others(665): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(641): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0171 | 1 | 350 | 0.0029 | 648 | c.135 others(665): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(641): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03490.hp1 HG03492.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0156 a0004c0006t0001g0157 a0004c0006t0001g0177 |
3 | 350 | 0.0086 | 648 | c.135 others(665): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(641): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0007 | 2 | 350 | 0.0057 | 648 | c.135 others(665): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132742761 | C | CTCACCAC others(641): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02818.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0265 others(1): Show |
4 | 350 | 0.0114 | 648 | c.135 others(665): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349889 | A | AGAAGGCA others(641): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 334 | 0.0030 | 648 | c.838 others(663): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(641): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 334 | 0.0030 | 648 | c.838 others(663): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350065 | C | CAGGGGAA others(641): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 334 | 0.0030 | 648 | c.838 others(663): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79309293 | G | GTGATCCC others(641): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0243 | 1 | 298 | 0.0034 | 648 | c.177 others(667): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79309577 | A | AGTAGTGA others(641): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 298 | 0.0034 | 648 | c.177 others(667): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33956743 | T | TAGAAAAG others(641): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0022 | 1 | 266 | 0.0038 | 648 | c.445 others(667): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467921 | G | GTGGTGGT others(641): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 262 | 0.0038 | 648 | c.487 others(663): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(641): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 a0001c0001t0003g0051 |
2 | 292 | 0.0069 | 648 | c.*21 others(663): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004583 | G | GATGGTGA others(641): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0086 | a0086c0073 | a0086c0073t0001 | a0086c0073t0001g0152 | 1 | 346 | 0.0029 | 648 | c.963 others(665): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23218258 | A | ACATCCTC others(641): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0112 | 1 | 278 | 0.0036 | 648 | c.108 others(667): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |