| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAI14_chr5_34651328_34837612 | 34717925 | T | TCCAACCC others(344): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 254 | 0.0039 | 351 | c.36+ others(368): Show |
RAI14 | ENSG00000039560.14 | transcript | ENST00000265109.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| RANBP10_chr16_67718070_67811560 | 67782758 | T | TCACTTTT others(344): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02896.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0048a0001c0001t0003g0051a0001c0001t0003g0054others(7): Show | 10 | 152 | 0.0658 | 351 | c.348 others(370): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 114007111 | C | CCTCCTGC others(344): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 67 | 0.0149 | 351 | c.174 others(368): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 114062673 | C | CCGCACGC others(344): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01993.hp1 HG02148.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0019a0001c0002t0002g0031a0001c0003t0003g0022 | 3 | 67 | 0.0448 | 351 | c.174 others(370): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar | |||||||
| RBBP8_chr18_22928328_23031486 | 22995019 | G | GCCCAGCC others(344): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 330 | 0.0030 | 351 | c.193 others(370): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| RBFOX1_chr16_6014024_7718340 | 7048858 | T | TGATATTT others(344): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 68 | 0.0147 | 351 | c.-15 others(368): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RELB_chr19_44996464_45043192 | 45038561 | T | TAAAAAAT others(344): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148a0001c0001t0002g0333 | 2 | 382 | 0.0052 | 351 | c.*77 others(360): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 370 | chr19 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(344): Show |
intron_variant | MODIFIER | HG02273.hp1 NA18945.hp1 NA18968.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021 | a0001c0001t0001g0132a0001c0001t0001g0149a0001c0001t0002g0129others(2): Show | 5 | 196 | 0.0255 | 351 | c.-9+ others(368): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(344): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 196 | 0.0051 | 351 | c.-9+ others(368): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(344): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02300.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0007a0001c0001t0019a0001c0001t0024others(5): Show | a0001c0001t0007g0111a0001c0001t0019g0150a0001c0001t0024g0114others(5): Show | 8 | 196 | 0.0408 | 351 | c.-9+ others(368): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(344): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 2 | 408 | 0.0049 | 351 | c.182 others(368): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(344): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 408 | 0.0025 | 351 | c.182 others(368): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| RNF32_chr7_156635774_156682130 | 156655787 | T | TTAGTAAT others(344): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 448 | 0.0022 | 351 | c.417 others(368): Show |
RNF32 | ENSG00000105982.17 | transcript | ENST00000317955.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ROCK2_chr2_11174759_11349636 | 11286234 | T | TTAAGCAG others(344): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0036 | 1 | 320 | 0.0031 | 351 | c.324 others(366): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
| RPSA2_chr19_23758004_23833868 | 23798607 | T | TAAAAAAT others(344): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0346 | 1 | 366 | 0.0027 | 351 | c.-30 others(370): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| RTEL1_chr20_63653312_63701245 | 63693582 | A | ACCTCCAC others(344): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 60 | 0.0167 | 351 | c.299 others(368): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3177664 | A | AGGCTCTC others(344): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 351 | c.-11 others(362): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 1104 | chr19 | TogoVar | |||||||
| S1PR4_chr19_3173769_3185332 | 3177739 | A | ATCGGGCT others(344): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 HG01496.hp1 |
a0001a0006 | a0001c0001a0006c0015 | a0001c0001t0001a0006c0015t0001 | a0001c0001t0001g0000a0006c0015t0001g0000 | 2 | 418 | 0.0048 | 351 | c.-10 others(362): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 1029 | chr19 | TogoVar | |||||||
| S1PR4_chr19_3173769_3185332 | 3177792 | G | GCCTCAGT others(344): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 418 | 0.0048 | 351 | c.-10 others(362): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 976 | chr19 | TogoVar | |||||||
| SBDS_chr7_66982680_67000586 | 66989249 | T | TAAAAAGA others(344): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 438 | 0.0023 | 351 | c.625 others(366): Show |
SBDS | ENSG00000126524.12 | transcript | ENST00000246868.7 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
| SCUBE1_chr22_43192280_43348372 | 43281314 | T | TTGGCCAC others(344): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0008 | a0001c0008t0020 | a0001c0008t0020g0091 | 1 | 280 | 0.0036 | 351 | c.484 others(368): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
| SDHA_chr5_213320_262082 | 260334 | T | TCAGAGCA others(344): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 266 | 0.0038 | 351 | c.*39 others(362): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3253 | chr5 | TogoVar | |||||||
| SEC24D_chr4_118717823_118841126 | 118828670 | G | GAAAAACC others(344): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0021 | a0005c0021t0001 | a0005c0021t0001g0268 | 1 | 300 | 0.0033 | 351 | c.119 others(368): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 2/22 | chr4 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(344): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0044 | 1 | 376 | 0.0027 | 351 | c.101 others(370): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31432003 | T | TAGGGTGG others(344): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0006 | a0006c0020 | a0006c0020t0002 | a0006c0020t0002g0089 | 1 | 376 | 0.0027 | 351 | c.101 others(368): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SGMS1_chr10_50300600_50628956 | 50479037 | A | AACCCTTC others(344): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0158a0001c0001t0002g0129a0001c0001t0002g0296others(4): Show | 7 | 312 | 0.0224 | 351 | c.-49 others(372): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
| SIK3_chr11_116838402_117103428 | 116982671 | T | TAAAAATG others(344): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0035 | 1 | 366 | 0.0027 | 351 | c.274 others(370): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
| SIM1_chr6_100380009_100469921 | 100428628 | T | TAAGAATG others(344): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0287 | 1 | 320 | 0.0031 | 351 | c.999 others(368): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
| SLC22A16_chr6_110419687_110481613 | 110469979 | T | TAAAGAAA others(344): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 416 | 0.0024 | 351 | c.53+ others(366): Show |
SLC22A16 | ENSG00000004809.14 | transcript | ENST00000368919.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
| SLC24A3_chr20_19207642_19727926 | 19663437 | C | CTCCTCCA others(344): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0020 | 1 | 160 | 0.0063 | 351 | c.688 others(368): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SMC5_chr9_70253978_70359873 | 70358709 | A | AAATATTT others(344): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 | 1 | 366 | 0.0027 | 351 | c.*63 others(362): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 3837 | chr9 | TogoVar | |||||||
| SMIM35_chr11_117998634_118091963 | 118003568 | T | TAAGAATA others(344): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0149 | 1 | 408 | 0.0025 | 351 | c.*28 others(362): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 65 | chr11 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 965110 | A | ACCCCAGT others(344): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG01257.hp1 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(6): Show | a0001c0001t0001g0173a0001c0001t0001g0178a0001c0001t0001g0179others(17): Show | 20 | 190 | 0.1053 | 351 | c.72+ others(368): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(344): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01081.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0024a0001c0001t0001g0025others(14): Show | 17 | 190 | 0.0895 | 351 | c.72+ others(368): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(344): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0107 | 1 | 190 | 0.0053 | 351 | c.72+ others(368): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(344): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0113 | 1 | 190 | 0.0053 | 351 | c.72+ others(368): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1361869 | A | AAGTCATT others(344): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 190 | 0.0053 | 351 | c.148 others(370): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SORCS3_chr10_104636290_105270242 | 104807121 | T | TGGACTGT others(344): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 134 | 0.0075 | 351 | c.628 others(370): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| SPOCD1_chr1_31785422_31821022 | 31807409 | G | GGGAGGGG others(344): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0180 | 1 | 260 | 0.0039 | 351 | c.138 others(370): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
| SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(344): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0118 | 1 | 260 | 0.0039 | 351 | c.138 others(370): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
| SPTBN1_chr2_54451327_54676446 | 54627009 | G | GAAGAAAA others(344): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0152 | 1 | 370 | 0.0027 | 351 | c.164 others(368): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SPTBN1_chr2_54451327_54676446 | 54627009 | G | GAAGAAAA others(344): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0179 | 1 | 370 | 0.0027 | 351 | c.164 others(368): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642352 | G | GGGGGGGG others(344): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 1 | 422 | 0.0024 | 351 | c.*63 others(362): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4262 | chr20 | TogoVar | |||||||
| STAC_chr3_36375504_36553007 | 36497944 | T | TCTAGAGG others(344): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 316 | 0.0032 | 351 | c.766 others(368): Show |
STAC | ENSG00000144681.11 | transcript | ENST00000273183.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| STPG4_chr2_47081991_47160308 | 47092141 | T | TGCATTTT others(344): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18962.hp2 NA18982.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0153a0001c0001t0001g0268a0003c0003t0001g0025others(1): Show | 4 | 352 | 0.0114 | 351 | c.520 others(368): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
| SUPT3H_chr6_44821726_45382934 | 45292725 | T | TAAAAAAG others(344): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0094 | 1 | 262 | 0.0038 | 351 | c.101 others(370): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| SUPT3H_chr6_44821726_45382934 | 45292725 | T | TAAAAAAG others(344): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 262 | 0.0038 | 351 | c.101 others(370): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| SV2B_chr15_91095257_91307565 | 91270863 | T | TGATGGGA others(344): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0027 | 1 | 214 | 0.0047 | 351 | c.137 others(370): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| SV2B_chr15_91095257_91307565 | 91270863 | T | TGATGGGA others(344): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0005 | a0005c0027 | a0005c0027t0007 | a0005c0027t0007g0125 | 1 | 214 | 0.0047 | 351 | c.137 others(370): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| SV2B_chr15_91095257_91307565 | 91270863 | T | TGATGGGA others(344): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(11): Show |
a0001 | a0001c0005a0001c0022 | a0001c0005t0002a0001c0005t0007a0001c0005t0008others(4): Show | a0001c0005t0002g0104a0001c0005t0007g0082a0001c0005t0007g0113others(11): Show | 14 | 214 | 0.0654 | 351 | c.137 others(370): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |