| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(653): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 324 | 0.0031 | 660 | c.115 others(677): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(653): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 324 | 0.0031 | 660 | c.115 others(677): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(653): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0129 | 1 | 150 | 0.0067 | 660 | c.77- others(677): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(653): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0036 | 1 | 158 | 0.0063 | 660 | c.22+ others(677): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SLAIN1_chr13_77692687_77769229 | 77703977 | A | ATATATAC others(653): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 300 | 0.0033 | 660 | c.626 others(677): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(653): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(111): Show |
a0001a0004a0005 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0010others(95): Show | 114 | 318 | 0.3585 | 660 | c.949 others(675): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
| SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(653): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03471.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0008a0001c0001t0001g0060a0001c0001t0006g0031 | 4 | 318 | 0.0126 | 660 | c.949 others(675): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
| SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(653): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18948.hp1 NA18951.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0128a0001c0001t0001g0129others(1): Show | 6 | 318 | 0.0189 | 660 | c.949 others(675): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
| SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(653): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 318 | 0.0031 | 660 | c.949 others(675): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
| SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(653): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 318 | 0.0031 | 660 | c.949 others(675): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
| SLC19A1_chr21_45507565_45547440 | 45531246 | G | GAGGTGGC others(653): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153a0001c0001t0003g0268a0001c0001t0003g0270 | 3 | 318 | 0.0094 | 660 | c.949 others(675): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
| SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(653): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 350 | 0.0029 | 660 | c.624 others(675): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| SLC6A12_chr12_185081_219157 | 197110 | C | CATCCATC others(653): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0028a0002c0009t0002g0029 | 2 | 420 | 0.0048 | 660 | c.107 others(677): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(653): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 660 | c.*12 others(671): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1221591 | T | TCTCTGCC others(653): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0013 | 1 | 190 | 0.0053 | 660 | c.719 others(679): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SOX11_chr2_5687384_5706385 | 5706346 | G | GCTGGGGT others(653): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0000 | 1 | 434 | 0.0023 | 660 | c.*12 others(673): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4962 | chr2 | TogoVar | ||||||
| ST7_chr7_116948501_117235176 | 117031379 | T | TATATATA others(653): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 188 | 0.0053 | 660 | c.152 others(679): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| STK32C_chr10_132202492_132312950 | 132251814 | A | AGACCCTC others(653): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0349 | 1 | 368 | 0.0027 | 660 | c.263 others(677): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
| TBC1D22A_chr22_46757650_47180693 | 47128216 | C | CCATCCTC others(653): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0095 | 1 | 112 | 0.0089 | 660 | c.142 others(681): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(653): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0090a0001c0001t0002g0009a0001c0001t0002g0052others(1): Show | 4 | 112 | 0.0357 | 660 | c.142 others(679): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(653): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02895.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0042a0001c0001t0001g0076a0001c0001t0005g0002 | 3 | 112 | 0.0268 | 660 | c.142 others(679): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(653): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 112 | 0.0089 | 660 | c.142 others(679): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TBCD_chr17_82747065_82950914 | 82846319 | C | CATGCCAC others(653): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 318 | 0.0031 | 660 | c.131 others(681): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | chr17 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 79139595 | A | ATATATAA others(653): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0060 | 1 | 94 | 0.0106 | 660 | c.-66 others(677): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377282 | C | CCCCCTCT others(653): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0082 | 1 | 370 | 0.0027 | 660 | c.-13 others(671): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1257 | chr19 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(653): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0194 | 1 | 256 | 0.0039 | 660 | c.924 others(677): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
| TMEM132B_chr12_125181386_125667369 | 125204500 | A | AGGCTCCG others(653): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0012 | a0001c0012t0015 | a0001c0012t0015g0083 | 1 | 128 | 0.0078 | 660 | c.67+ others(677): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMPRSS2_chr21_41459305_41513158 | 41474494 | A | AGTGAGGA others(653): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0282 | 1 | 382 | 0.0026 | 660 | c.728 others(675): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(653): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 114 | 0.0088 | 660 | c.-25 others(679): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(653): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 114 | 0.0088 | 660 | c.-25 others(679): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCT others(653): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0021 | a0021c0019 | a0021c0019t0001 | a0021c0019t0001g0051 | 1 | 114 | 0.0088 | 660 | c.-25 others(679): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TP53AIP1_chr11_128930370_128947871 | 128930701 | T | TAGGGAGG others(653): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 466 | 0.0022 | 660 | c.*48 others(671): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4668 | chr11 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930775 | G | GGTTAGGG others(653): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 466 | 0.0022 | 660 | c.*48 others(671): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4594 | chr11 | TogoVar | ||||||
| TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(653): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 272 | 0.0037 | 660 | c.*28 others(671): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | ||||||
| TRIML1_chr4_188134441_188152743 | 188152124 | A | AGGGGTGA others(653): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 228 | 0.0044 | 660 | c.*47 others(671): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4382 | chr4 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(653): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0080 | 1 | 174 | 0.0058 | 660 | c.41- others(677): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TTLL8_chr22_50013575_50063298 | 50028623 | C | CCCCCACA others(653): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 224 | 0.0045 | 660 | c.225 others(679): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(653): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 NA18949.hp1 NA18965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211a0001c0001t0001g0221a0001c0001t0001g0237others(1): Show | 4 | 324 | 0.0124 | 660 | c.*61 others(671): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | ||||||
| UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(653): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 NA19000.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248a0001c0001t0001g0275a0001c0001t0001g0287 | 3 | 324 | 0.0093 | 660 | c.*61 others(671): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | ||||||
| UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(653): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 324 | 0.0031 | 660 | c.*61 others(671): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | ||||||
| VPS16_chr20_2835745_2871732 | 2842829 | T | TATAGATG others(653): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 408 | 0.0025 | 660 | c.53+ others(675): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(653): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023a0001c0001t0002g0025 | 2 | 218 | 0.0092 | 660 | c.55+ others(675): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46292576 | A | AATTCCTC others(653): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0345 | 1 | 404 | 0.0025 | 660 | c.339 others(677): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(653): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0210 | 1 | 302 | 0.0033 | 660 | c.-1- others(677): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ACSF3_chr16_89088852_89161233 | 89137345 | G | GGGAGGAC others(654): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0005 | a0005c0009 | a0005c0009t0011 | a0005c0009t0011g0310 | 1 | 368 | 0.0027 | 661 | c.136 others(680): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ACSF3_chr16_89088852_89161233 | 89137453 | T | TCGGGAGG others(654): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0091 | 1 | 368 | 0.0027 | 661 | c.136 others(680): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(654): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0066 | 1 | 391 | 0.0026 | 661 | c.*36 others(672): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
| C11orf24_chr11_68256338_68276973 | 68264684 | C | CTGTCCAT others(654): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19086.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0035 | 2 | 400 | 0.0050 | 661 | c.-99 others(676): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
| C1QTNF12_chr1_1237453_1251722 | 1249037 | G | GCGAGGGA others(654): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 328 | 0.0031 | 661 | c.-23 others(672): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 2316 | chr1 | TogoVar | ||||||
| CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(654): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0006 | a0006c0009 | a0006c0009t0022 | a0006c0009t0022g0083 | 1 | 376 | 0.0027 | 661 | c.63+ others(674): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar |