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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0094 | a0001c0001t0001g0095 a0001c0001t0001g0122 a0001c0001t0001g0126 others(2): Show |
5 | 410 | 0.0122 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03471.hp1 |
a0001a0002 | a0001c0016a0002c0002 | a0001c0016t0055a0002c0002t0001 | a0001c0016t0055g0151 a0002c0002t0001g0236 |
2 | 410 | 0.0049 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0053 | a0001c0001t0014g0309 a0001c0001t0053g0310 |
2 | 410 | 0.0049 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0243 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0311 | 1 | 410 | 0.0024 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2452): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02109.hp2 HG02132.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0315 a0001c0001t0001g0317 others(14): Show |
18 | 410 | 0.0439 | 2459 | c.213 others(2476): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CD99_chrX_2686295_2746309 | 2714293 | T | TGTAAATT others(2452): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0220 | 1 | 228 | 0.0044 | 2459 | c.68- others(2472): Show |
CD99 | ENSG00000002586.20 | transcript | ENST00000381192.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CD99_chrX_2686295_2746309 | 2714293 | T | TGTAAATT others(2452): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 228 | 0.0044 | 2459 | c.68- others(2472): Show |
CD99 | ENSG00000002586.20 | transcript | ENST00000381192.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(2452): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0010 | a0010c0032 | a0010c0032t0001 | a0010c0032t0001g0191 | 1 | 192 | 0.0052 | 2459 | c.441 others(2478): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(2452): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0011 | a0011c0033 | a0011c0033t0002 | a0011c0033t0002g0152 | 1 | 208 | 0.0048 | 2459 | c.446 others(2478): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2452): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0010 | a0010c0022 | a0010c0022t0001 | a0010c0022t0001g0037 | 1 | 170 | 0.0059 | 2459 | c.642 others(2476): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355563 | G | GGAGAAAG others(2452): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 82 | 0.0122 | 2459 | c.757 others(2474): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2452): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 301 | 0.0033 | 2459 | c.-11 others(2470): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217692395 | A | AGACGATG others(2452): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0091 | 1 | 252 | 0.0040 | 2459 | c.395 others(2476): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 410 | 0.0024 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0066 | 1 | 410 | 0.0024 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0245 | 1 | 410 | 0.0024 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | NA18964.hp1 NA18973.hp2 NA18983.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0135 a0002c0002t0003g0160 a0002c0002t0003g0161 others(1): Show |
4 | 410 | 0.0098 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0218 | 1 | 410 | 0.0024 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00642.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0006a0002c0002t0001a0002c0002t0003others(9): Show | a0001c0001t0006g0148 a0002c0002t0001g0219 a0002c0002t0001g0254 others(16): Show |
19 | 410 | 0.0463 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02735.hp2 HG04204.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0007a0002c0002t0011a0004c0004t0012 | a0002c0002t0007g0228 a0002c0002t0011g0227 a0004c0004t0012g0242 |
3 | 410 | 0.0073 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0045 | 1 | 410 | 0.0024 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0050 | 1 | 410 | 0.0024 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 410 | 0.0024 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 410 | 0.0024 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0324 | 1 | 410 | 0.0024 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18959.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0037g0335 |
3 | 410 | 0.0073 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2453): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18989.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0325 a0002c0002t0008g0326 |
2 | 410 | 0.0049 | 2460 | c.213 others(2477): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2453): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 170 | 0.0059 | 2460 | c.642 others(2477): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2453): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 170 | 0.0059 | 2460 | c.642 others(2477): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2453): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0101 | 1 | 170 | 0.0059 | 2460 | c.642 others(2477): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2453): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0069 | 1 | 416 | 0.0024 | 2460 | c.522 others(2475): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2453): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0169 | 1 | 416 | 0.0024 | 2460 | c.522 others(2475): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2453): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 | 1 | 416 | 0.0024 | 2460 | c.522 others(2475): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535783 | A | AGGGGAGC others(2453): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0247 | 1 | 324 | 0.0031 | 2460 | c.140 others(2477): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(2453): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01928.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0218 a0001c0001t0001g0232 others(2): Show |
5 | 295 | 0.0170 | 2460 | c.126 others(2479): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2453): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 186 | 0.0054 | 2460 | c.-50 others(2471): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 410 | 0.0024 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0008 | a0008c0011 | a0008c0011t0051 | a0008c0011t0051g0312 | 1 | 410 | 0.0024 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0080 | a0002c0002t0080g0340 | 1 | 410 | 0.0024 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 NA18612.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0224 a0002c0002t0004g0225 a0002c0002t0004g0353 |
3 | 410 | 0.0073 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0002 | a0002c0002t0086 | a0002c0002t0086g0229 | 1 | 410 | 0.0024 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | HG01361.hp1 NA19010.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0305 a0002c0002t0003g0230 |
2 | 410 | 0.0049 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0234 | 1 | 410 | 0.0024 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0036 | 1 | 410 | 0.0024 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 410 | 0.0024 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 410 | 0.0024 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2454): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0331 | 1 | 410 | 0.0024 | 2461 | c.213 others(2478): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725401 | G | GGCAGAGA others(2454): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0268 | 1 | 324 | 0.0031 | 2461 | c.340 others(2478): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |