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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HEXB_chr5_74680233_74726288 | 74690649 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 3 | 0.3333 | -21 | c.445 others(38): Show |
HEXB | ENSG00000049860.14 | transcript | ENST00000261416.12 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433120 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 394 | 0.0025 | -21 | c.283 others(36): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433122 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 394 | 0.0025 | -21 | c.283 others(36): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79768297 | ACGGCGGC others(14): Show |
A | upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 458 | 0.0022 | -21 | c.-65 others(30): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 531 | chr8 | TogoVar | |||||||
HEY1_chr8_79759010_79772767 | 79768308 | CGCGCTGG others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 458 | 0.0022 | -21 | c.-66 others(30): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 542 | chr8 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120660873 | GAAAACTT others(14): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0041 | 1 | 372 | 0.0027 | -21 | c.283 others(38): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 4/13 | chr3 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210344892 | TCATCGGA others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(215): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0082 others(215): Show |
218 | 266 | 0.8195 | -21 | c.-43 others(38): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210394229 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00642.hp2 others(93): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0076 others(93): Show |
96 | 114 | 0.8421 | -21 | c.274 others(38): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210428585 | CAGTTGTC others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(96): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0089 others(96): Show |
99 | 266 | 0.3722 | -21 | c.856 others(40): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIPL2_chr1_222517264_222553104 | 222552222 | TAAAAAAA others(14): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0021 | a0007c0021t0001 | a0007c0021t0001g0305 | 1 | 3 | 0.3333 | -21 | c.-41 others(32): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 4119 | chr1 | TogoVar | |||||||
HHIP_chr4_144641156_144750271 | 144684232 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 14 | 0.0714 | -21 | c.832 others(40): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HHIP_chr4_144641156_144750271 | 144716854 | GAAAAAAA others(14): Show |
G | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 32 | 0.0313 | -21 | c.167 others(40): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HID1_chr17_74945742_74977759 | 74976726 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 1 | 362 | 0.0028 | -21 | c.-40 others(32): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3968 | chr17 | TogoVar | |||||||
HIF1AN_chr10_100530943_100564998 | 100540272 | GTTTGGGG others(14): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0077 | a0001c0001t0010g0015 a0001c0001t0010g0023 a0001c0001t0077g0070 |
6 | 318 | 0.0189 | -21 | c.429 others(36): Show |
HIF1AN | ENSG00000166135.14 | transcript | ENST00000299163.7 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86316771 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(158): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(135): Show |
161 | 166 | 0.9699 | -21 | c.268 others(40): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122838007 | CAGCACTG others(14): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp1 others(53): Show |
a0002a0015a0016others(2): Show | a0002c0002a0015c0019a0016c0015others(2): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0015others(5): Show | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0013 others(39): Show |
56 | 346 | 0.1619 | -21 | c.93+ others(36): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIVEP2_chr6_142746469_142950176 | 142818699 | GAAAGAAA others(14): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0040 | a0001c0001t0001a0001c0004t0001a0001c0040t0001 | a0001c0001t0001g0080 a0001c0001t0001g0178 a0001c0004t0001g0012 others(1): Show |
4 | 286 | 0.0140 | -21 | c.-52 others(42): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41544733 | TACCATCA others(14): Show |
T | intron_variant | MODIFIER | HG03453.hp2 HG06807.hp1 |
a0001a0029 | a0001c0011a0029c0035 | a0001c0011t0004a0029c0035t0019 | a0001c0011t0004g0041 a0029c0035t0019g0026 |
2 | 134 | 0.0149 | -21 | c.520 others(42): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722521 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02015.hp1 HG02056.hp1 others(46): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 49 | 55 | 0.8909 | -21 | c.-94 others(30): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 912 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722774 | GGAAGAGG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG03492.hp1 HG03834.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0016 |
4 | 298 | 0.0134 | -21 | c.-68 others(30): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 659 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722780 | GGAAGAGG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 NA19030.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0008 | 2 | 243 | 0.0082 | -21 | c.-68 others(30): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 653 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722786 | GGAAGAAG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02886.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001 a0004c0005t0001g0011 |
2 | 199 | 0.0101 | -21 | c.-67 others(30): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 647 | chr6 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36888442 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0080 a0001c0001t0001g0111 a0001c0001t0005g0079 others(4): Show |
7 | 244 | 0.0287 | -21 | c.189 others(40): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36888444 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02129.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0112 others(4): Show |
7 | 242 | 0.0289 | -21 | c.189 others(40): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36888446 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00673.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0104 others(35): Show |
38 | 217 | 0.1751 | -21 | c.189 others(40): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 185858586 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG03942.hp1 | a0039 | a0039c0042 | a0039c0042t0001 | a0039c0042t0001g0042 | 1 | 5 | 0.2000 | -21 | c.340 others(38): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 2/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130277718 | CCACCACC others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0004 | a0004c0202 | a0004c0202t0002 | a0004c0202t0002g0187 | 1 | 255 | 0.0039 | -21 | c.260 others(38): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMGA2_chr12_65819483_65971291 | 65875589 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01516.hp2 HG02040.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0107 a0001c0001t0002g0108 a0001c0001t0003g0118 others(1): Show |
4 | 20 | 0.2000 | -21 | c.249 others(40): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HMGB3_chrX_150978335_150995771 | 150983398 | CCCGCCGC others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(154): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(25): Show |
157 | 164 | 0.9573 | -21 | c.-6+ others(32): Show |
HMGB3 | ENSG00000029993.15 | transcript | ENST00000325307.12 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HMOX1_chr22_35376096_35399207 | 35389428 | CTATCTTT others(14): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 382 | 0.0026 | -21 | c.637 others(36): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HMOX2_chr16_4471398_4515347 | 4483158 | CTGGTGTG others(14): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 312 | 0.0032 | -21 | c.-42 others(38): Show |
HMOX2 | ENSG00000103415.12 | transcript | ENST00000570646.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HNF1A_chr12_120973543_121007512 | 120998825 | TTTAGTAC others(14): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0019 | a0001c0019t0011 | a0001c0019t0011g0245 | 1 | 408 | 0.0025 | -21 | c.150 others(38): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HNF4G_chr8_75534869_75571834 | 75545755 | AGATTATA others(14): Show |
A | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0138 | 1 | 392 | 0.0026 | -21 | c.287 others(38): Show |
HNF4G | ENSG00000164749.13 | transcript | ENST00000396423.4 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
HNRNPA3_chr2_177207794_177228959 | 177224945 | CTAATAAT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01346.hp1 HG01928.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0035g0003 |
6 | 331 | 0.0181 | -21 | c.*55 others(32): Show |
HNRNPA3 | ENSG00000170144.22 | transcript | ENST00000392524.7 | protein_coding | 987 | chr2 | TogoVar | |||||||
HNRNPC_chr14_21204147_21274442 | 21205391 | TTTGTTAA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0330 a0001c0001t0001g0344 others(2): Show |
5 | 386 | 0.0130 | -21 | c.*58 others(32): Show |
HNRNPC | ENSG00000092199.19 | transcript | ENST00000553300.6 | protein_coding | 3755 | chr14 | TogoVar | |||||||
HOMER1_chr5_79367636_79519134 | 79386943 | TTCCTTTC others(14): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0052 a0001c0001t0018g0069 |
2 | 287 | 0.0070 | -21 | c.876 others(38): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
HOMER1_chr5_79367636_79519134 | 79427796 | CTTCCTTT others(14): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0195 a0001c0001t0003g0058 a0001c0001t0011g0059 others(5): Show |
8 | 288 | 0.0278 | -21 | c.527 others(40): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HOMER1_chr5_79367636_79519134 | 79490816 | GGTGACAC others(14): Show |
G | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 288 | 0.0035 | -21 | c.5+2 others(36): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
HOMER1_chr5_79367636_79519134 | 79491075 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0003g0008 others(48): Show |
51 | 64 | 0.7969 | -21 | c.5+2 others(36): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
HOOK1_chr1_59809949_59881322 | 59851046 | ACCACACT others(14): Show |
A | intron_variant | MODIFIER | HG03017.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0031 | a0001c0001t0020g0143 a0001c0001t0031g0144 |
2 | 250 | 0.0080 | -21 | c.124 others(40): Show |
HOOK1 | ENSG00000134709.13 | transcript | ENST00000371208.5 | protein_coding | 12/21 | chr1 | TogoVar | |||||||
HORMAD2_chr22_30075464_30182075 | 30129236 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(6): Show |
9 | 348 | 0.0259 | -21 | c.819 others(38): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HOXC11_chr12_53968126_53982643 | 53973999 | GCAAGGGG others(14): Show |
G | intron_variant | MODIFIER | NA18961.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0009 | 1 | 394 | 0.0025 | -21 | c.682 others(34): Show |
HOXC11 | ENSG00000123388.4 | transcript | ENST00000546378.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HPCA_chr1_32881491_32899646 | 32893705 | TCCGCCTC others(14): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0041 | 1 | 386 | 0.0026 | -21 | c.485 others(34): Show |
HPCA | ENSG00000121905.10 | transcript | ENST00000373467.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HPD_chr12_121834527_121863859 | 121835007 | CTTTCTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0115 |
2 | 403 | 0.0050 | -21 | c.*47 others(32): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 4519 | chr12 | TogoVar | |||||||
HPD_chr12_121834527_121863859 | 121840722 | GGCAGCTT others(14): Show |
G | intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 404 | 0.0025 | -21 | c.955 others(36): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 12/13 | chr12 | TogoVar | |||||||
HPS4_chr22_26445882_26488783 | 26483980 | GGAGGCGG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0001c0010others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0022 others(225): Show |
334 | 401 | 0.8329 | -21 | c.-80 others(30): Show |
HPS4 | ENSG00000100099.22 | transcript | ENST00000398145.7 | protein_coding | 198 | chr22 | TogoVar | |||||||
HPS5_chr11_18273676_18327140 | 18303464 | GCAGAGCC others(14): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 370 | 0.0027 | -21 | c.896 others(38): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | TogoVar | |||||||
HPS5_chr11_18273676_18327140 | 18305958 | TCCTGACC others(14): Show |
T | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 370 | 0.0027 | -21 | c.824 others(36): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
HPS5_chr11_18273676_18327140 | 18306981 | CATCATTC others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(59): Show |
a0001a0006a0011 | a0001c0001a0001c0018a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0002g0012 others(57): Show |
62 | 370 | 0.1676 | -21 | c.612 others(36): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 6/22 | chr11 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99169504 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01993.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 others(8): Show |
11 | 12 | 0.9167 | -21 | c.449 others(40): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar |