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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HSFX3_chrX_149543210_149554924 | 149544793 | T | TCACGTAC | downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 7 | c.*35 others(18): Show |
HSFX3 | ENSG00000283697.3 | transcript | ENST00000431993.4 | protein_coding | 3416 | chrX | TogoVar | ||||||
HSH2D_chr19_16138685_16163575 | 16159722 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01256.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0062a0001c0001t0001g0088others(5): Show | 9 | 394 | 0.0228 | 7 | c.*19 others(18): Show |
HSH2D | ENSG00000196684.12 | transcript | ENST00000613986.4 | protein_coding | 1148 | chr19 | TogoVar | ||||||
HSPA12B_chr20_3727685_3758111 | 3746301 | C | CTTTTTTT | intron_variant | MODIFIER | HG02083.hp2 HG02165.hp2 HG02523.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0096others(5): Show | 14 | 424 | 0.0330 | 7 | c.675 others(22): Show |
HSPA12B | ENSG00000132622.11 | transcript | ENST00000254963.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HSPA8_chr11_123052489_123067136 | 123060513 | C | CGCCAGGT | intron_variant | MODIFIER | HG01192.hp2 HG01975.hp2 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0063a0001c0003t0002g0011a0001c0003t0002g0035others(3): Show | 15 | 424 | 0.0354 | 7 | c.411 others(20): Show |
HSPA8 | ENSG00000109971.14 | transcript | ENST00000534624.6 | protein_coding | 3/8 | chr11 | TogoVar | ||||||
HSPA9_chr5_138548756_138580401 | 138571960 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00609.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0023others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0019others(35): Show | 49 | 302 | 0.1623 | 7 | c.229 others(22): Show |
HSPA9 | ENSG00000113013.16 | transcript | ENST00000297185.9 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
HSPBAP1_chr3_122734999_122798831 | 122746633 | T | TCCTCTCC | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019a0001c0001t0002g0202a0001c0001t0002g0210others(13): Show | 17 | 350 | 0.0486 | 7 | c.826 others(24): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
HSPG2_chr1_21817244_21942310 | 21915198 | G | GTGCCCAC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(272): Show |
a0001a0002a0003others(72): Show | a0001c0001a0001c0002a0001c0003others(114): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(118): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0013others(265): Show | 275 | 310 | 0.8871 | 7 | c.64- others(24): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 1/96 | chr1 | TogoVar | ||||||
HTN1_chr4_70045438_70063848 | 70051081 | C | CTTGTCTA | intron_variant | MODIFIER | HG01243.hp2 HG02004.hp1 HG02258.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011a0002c0002t0001g0029a0002c0002t0001g0064others(1): Show | 10 | 440 | 0.0227 | 7 | c.-14 others(22): Show |
HTN1 | ENSG00000126550.10 | transcript | ENST00000246896.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87869435 | A | AGATAGAT | intron_variant | MODIFIER | HG01070.hp2 HG03516.hp2 NA18944.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0093a0001c0001t0002g0064others(8): Show | 11 | 250 | 0.0440 | 7 | c.-43 others(26): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
HTR1F_chr3_87787706_87998839 | 87869439 | A | AGATAGAT | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0047a0001c0001t0002g0125a0001c0001t0002g0126others(8): Show | 11 | 250 | 0.0440 | 7 | c.-43 others(26): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87869443 | A | AGATAGAT | intron_variant | MODIFIER | HG02896.hp1 HG02976.hp2 NA18984.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0002g0135others(1): Show | 4 | 250 | 0.0160 | 7 | c.-43 others(26): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR2A_chr13_46826546_46902053 | 46868029 | G | GTTAATTC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(67): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0050others(65): Show | 70 | 336 | 0.2083 | 7 | c.613 others(26): Show |
HTR2A | ENSG00000102468.11 | transcript | ENST00000542664.4 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
HTR2A_chr13_46826546_46902053 | 46876405 | T | TATATATA | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01070.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0015 | a0001c0001t0001g0005a0001c0001t0001g0057a0001c0001t0001g0059others(4): Show | 8 | 336 | 0.0238 | 7 | c.613 others(26): Show |
HTR2A | ENSG00000102468.11 | transcript | ENST00000542664.4 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
HTR2A_chr13_46826546_46902053 | 46879826 | G | GAAAGCCC | intron_variant | MODIFIER | HG03098.hp2 NA19240.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0007 | a0001c0001t0001g0135a0001c0005t0007g0133a0001c0005t0007g0134 | 3 | 336 | 0.0089 | 7 | c.613 others(26): Show |
HTR2A | ENSG00000102468.11 | transcript | ENST00000542664.4 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
HTR2B_chr2_231103230_231130042 | 231121981 | C | CTGTACAG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01070.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0016others(15): Show | 58 | 416 | 0.1394 | 7 | c.352 others(24): Show |
HTR2B | ENSG00000135914.6 | transcript | ENST00000258400.4 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114583777 | T | TGTGTGTG | upstream_gene_variant | MODIFIER | HG00639.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0156 | 2 | 176 | 0.0114 | 7 | c.-10 others(18): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 308 | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114626214 | C | CAAAAAAA | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0140 | 1 | 176 | 0.0057 | 7 | c.-80 others(26): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114644362 | A | ATATATAT | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 176 | 0.0057 | 7 | c.-80 others(26): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 2/5 | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114644408 | T | TATATATA | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 176 | 0.0057 | 7 | c.-80 others(26): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 2/5 | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114734564 | T | TAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG02486.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0020 | a0002c0002t0001g0159a0002c0002t0002g0010a0002c0002t0002g0011others(4): Show | 7 | 176 | 0.0398 | 7 | c.349 others(24): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114741524 | T | TAAAAAAA | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 176 | 0.0057 | 7 | c.349 others(24): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114764924 | T | TTTCTTTC | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 176 | 0.0057 | 7 | c.349 others(26): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114802683 | A | ATTCTTCT | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 176 | 0.0057 | 7 | c.350 others(26): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR3B_chr11_113899796_113954079 | 113913350 | A | ATTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG02717.hp2 HG02723.hp2 others(8): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0006a0002c0002t0024a0002c0002t0055others(3): Show | a0002c0002t0006g0137a0002c0002t0006g0170a0002c0002t0006g0171others(8): Show | 11 | 418 | 0.0263 | 7 | c.213 others(24): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HTR3B_chr11_113899796_113954079 | 113915195 | T | TTTGTTTG | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(50): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0021a0001c0003t0047others(2): Show | a0001c0003t0003g0004a0001c0003t0003g0007a0001c0003t0003g0008others(44): Show | 53 | 418 | 0.1268 | 7 | c.213 others(24): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HTR3D_chr3_184026742_184044369 | 184033119 | A | ATTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG02486.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0012 | 6 | 450 | 0.0133 | 7 | c.66+ others(22): Show |
HTR3D | ENSG00000186090.11 | transcript | ENST00000428798.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR3D_chr3_184026742_184044369 | 184041041 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG01978.hp2 HG02129.hp1 HG03669.hp1 others(8): Show |
a0002a0003a0010 | a0002c0001a0003c0004a0010c0013 | a0002c0001t0001a0003c0004t0002a0010c0013t0001 | a0002c0001t0001g0001a0002c0001t0001g0017a0002c0001t0001g0026others(5): Show | 11 | 450 | 0.0244 | 7 | c.*20 others(18): Show |
HTR3D | ENSG00000186090.11 | transcript | ENST00000428798.7 | protein_coding | 1673 | chr3 | TogoVar | ||||||
HTR3E_chr3_184092064_184111995 | 184099676 | T | TGCAGTCC | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02622.hp2 others(7): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0009 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0072a0001c0001t0002g0057others(4): Show | 10 | 422 | 0.0237 | 7 | c.68- others(20): Show |
HTR3E | ENSG00000186038.9 | transcript | ENST00000415389.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR3E_chr3_184092064_184111995 | 184099739 | A | AAAAAAAC | intron_variant | MODIFIER | HG00741.hp2 HG02015.hp1 HG02738.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0128a0001c0001t0001g0129others(1): Show | 8 | 422 | 0.0190 | 7 | c.68- others(20): Show |
HTR3E | ENSG00000186038.9 | transcript | ENST00000415389.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR4_chr5_148476547_148659527 | 148490146 | T | TATGTATA | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0024 | a0001c0001t0001g0184a0001c0001t0001g0198a0001c0001t0001g0199others(4): Show | 7 | 310 | 0.0226 | 7 | c.107 others(26): Show |
HTR4 | ENSG00000164270.19 | transcript | ENST00000377888.8 | protein_coding | 6/6 | chr5 | TogoVar | ||||||
HTR5A_chr7_155065324_155092392 | 155073323 | G | GAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(161): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0019others(64): Show | 164 | 430 | 0.3814 | 7 | c.741 others(24): Show |
HTR5A | ENSG00000157219.5 | transcript | ENST00000287907.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HTR5A_chr7_155065324_155092392 | 155078751 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01192.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0036others(2): Show | a0001c0001t0001g0019a0001c0001t0007g0078a0001c0001t0007g0079others(5): Show | 10 | 430 | 0.0233 | 7 | c.742 others(24): Show |
HTR5A | ENSG00000157219.5 | transcript | ENST00000287907.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HTR6_chr1_19659875_19685966 | 19685710 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0002g0057a0001c0001t0003g0004others(33): Show | 65 | 400 | 0.1625 | 7 | c.*63 others(18): Show |
HTR6 | ENSG00000158748.4 | transcript | ENST00000289753.2 | protein_coding | 4745 | chr1 | TogoVar | ||||||
HTR7_chr10_90735823_90863039 | 90848069 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(33): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0007 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0280a0001c0001t0002g0282a0001c0001t0002g0285others(33): Show | 36 | 404 | 0.0891 | 7 | c.539 others(24): Show |
HTR7 | ENSG00000148680.16 | transcript | ENST00000336152.8 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
HTRA1_chr10_122456553_122519907 | 122496224 | G | GTTTTTTT | intron_variant | MODIFIER | HG01099.hp2 HG01358.hp1 NA18972.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0151a0001c0001t0001g0203others(5): Show | 8 | 362 | 0.0221 | 7 | c.777 others(24): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
HTRA1_chr10_122456553_122519907 | 122496225 | G | GTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 HG01109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0026a0001c0001t0001g0096a0001c0001t0001g0118others(9): Show | 12 | 362 | 0.0332 | 7 | c.777 others(24): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HTRA4_chr8_38969228_38993663 | 38981066 | T | TTTTTTTG | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00738.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0008a0001c0001t0002g0046a0001c0001t0002g0057others(17): Show | 28 | 428 | 0.0654 | 7 | c.100 others(24): Show |
HTRA4 | ENSG00000169495.5 | transcript | ENST00000302495.5 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HTT_chr4_3069681_3248957 | 3158075 | T | TCAACCTC | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(141): Show |
a0002a0005a0007others(52): Show | a0002c0001a0002c0030a0002c0031others(64): Show | a0002c0001t0002a0002c0001t0013a0002c0001t0014others(71): Show | a0002c0001t0002g0191a0002c0001t0002g0193a0002c0001t0002g0196others(141): Show | 144 | 294 | 0.4898 | 7 | c.375 others(24): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 28/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HUNK_chr21_31868020_32009064 | 31909941 | T | TGGAGCCG | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02280.hp1 others(11): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0029a0001c0001t0035others(8): Show | a0001c0001t0001g0014a0001c0001t0001g0081a0001c0001t0001g0140others(11): Show | 14 | 328 | 0.0427 | 7 | c.262 others(26): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
HUNK_chr21_31868020_32009064 | 32005685 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG01099.hp1 others(43): Show |
a0001a0002a0004 | a0001c0002a0001c0005a0001c0006others(5): Show | a0001c0002t0005a0001c0002t0007a0001c0002t0017others(18): Show | a0001c0002t0005g0009a0001c0002t0005g0017a0001c0002t0005g0030others(43): Show | 46 | 328 | 0.1402 | 7 | c.*65 others(18): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 1622 | chr21 | TogoVar | ||||||
HUNK_chr21_31868020_32009064 | 32007936 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG01109.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0041 | a0001c0005t0010g0052a0001c0005t0010g0252a0001c0005t0010g0253others(4): Show | 7 | 328 | 0.0213 | 7 | c.*87 others(18): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 3873 | chr21 | TogoVar | ||||||
HUS1B_chr6_650939_662100 | 654803 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01361.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 432 | 0.0162 | 7 | c.*12 others(18): Show |
HUS1B | ENSG00000188996.5 | transcript | ENST00000380907.3 | protein_coding | 1135 | chr6 | TogoVar | ||||||
HUS1B_chr6_650939_662100 | 658666 | T | TATATATA | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01884.hp2 others(5): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0001a0006c0010t0001 | a0002c0002t0001g0000a0006c0010t0001g0000 | 8 | 432 | 0.0185 | 7 | c.-17 others(18): Show |
HUS1B | ENSG00000188996.5 | transcript | ENST00000380907.3 | protein_coding | 1567 | chr6 | TogoVar | ||||||
HUWE1_chrX_53527096_53691719 | 53577457 | T | TAAAAAAA | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0208 | 1 | 214 | 0.0047 | 7 | c.571 others(24): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | TogoVar | ||||||
HYAL1_chr3_50294893_50308574 | 50304274 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02897.hp2 HG03654.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0003c0003t0001g0011 | 11 | 384 | 0.0287 | 7 | c.-84 others(16): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 701 | chr3 | TogoVar | ||||||
HYAL3_chr3_50287832_50304405 | 50304274 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02897.hp1 HG03654.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0001a0002c0002t0001g0002a0002c0002t0001g0017others(1): Show | 10 | 378 | 0.0265 | 7 | c.-50 others(18): Show |
HYAL3 | ENSG00000186792.17 | transcript | ENST00000336307.6 | protein_coding | 4870 | chr3 | TogoVar | ||||||
HYI_chr1_43445989_43458931 | 43453834 | A | AGGCGGCG | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG02027.hp2 HG02055.hp2 others(15): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0003t0002a0002c0001t0002 | a0001c0002t0002g0015a0001c0002t0002g0026a0001c0003t0002g0027others(1): Show | 18 | 422 | 0.0427 | 7 | c.-48 others(14): Show |
HYI | ENSG00000178922.18 | transcript | ENST00000372430.9 | protein_coding | 1/8 | 42 | chr1 | TogoVar | |||||
HYI_chr1_43445989_43458931 | 43455965 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(111): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0002a0001c0002t0001g0013a0001c0002t0001g0032others(8): Show | 114 | 422 | 0.2701 | 7 | c.-21 others(18): Show |
HYI | ENSG00000178922.18 | transcript | ENST00000372430.9 | protein_coding | 2035 | chr1 | TogoVar | ||||||
HYLS1_chr11_125882668_125905646 | 125886919 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG03831.hp1 NA18947.hp2 NA18967.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0014a0002c0002t0001g0035others(1): Show | 7 | 436 | 0.0161 | 7 | c.-92 others(16): Show |
HYLS1 | ENSG00000198331.11 | transcript | ENST00000425380.7 | protein_coding | 748 | chr11 | TogoVar | ||||||
IARS1_chr9_92205207_92298697 | 92224832 | C | CAAAAAAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(165): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0020others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(154): Show | 168 | 338 | 0.4970 | 7 | c.341 others(26): Show |
IARS1 | ENSG00000196305.19 | transcript | ENST00000443024.7 | protein_coding | 31/33 | chr9 | TogoVar |