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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(871): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 64 | 0.0156 | 878 | c.166 others(897): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(871): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 64 | 0.0156 | 878 | c.166 others(897): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(871): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 139 | 0.0072 | 878 | c.141 others(895): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133082514 | C | CTCCCCTC others(871): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0068 | 1 | 46 | 0.0217 | 878 | c.62- others(897): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(871): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 135 | 0.0074 | 878 | c.*31 others(889): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(871): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 NA19082.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 2 | 136 | 0.0147 | 878 | c.*31 others(889): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 165942 | C | CCTCTGAT others(871): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0142 a0001c0007t0009g0144 |
2 | 164 | 0.0122 | 878 | c.347 others(897): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(871): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0170 | 1 | 70 | 0.0143 | 878 | c.438 others(897): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803080 | G | GGGGGCCC others(871): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0181 | 1 | 290 | 0.0034 | 878 | c.-51 others(889): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4867 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803080 | G | GGGGGCCC others(871): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 290 | 0.0034 | 878 | c.-51 others(889): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4867 | chr9 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099698 | G | GCAGCCCC others(871): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0017 | 1 | 52 | 0.0192 | 878 | c.56- others(895): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1289035 | C | CCGTGTCT others(871): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0021 | a0021c0025 | a0021c0025t0001 | a0021c0025t0001g0255 | 1 | 254 | 0.0039 | 878 | c.166 others(896): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(871): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 166 | 0.0060 | 878 | c.115 others(895): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTAT others(871): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 7 | 0.1429 | 878 | c.*17 others(897): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTAT others(871): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 7 | 0.1429 | 878 | c.*17 others(897): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(871): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 7 | 0.1429 | 878 | c.*17 others(897): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(871): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 7 | 0.1429 | 878 | c.*17 others(897): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(871): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 7 | 0.1429 | 878 | c.*17 others(897): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(871): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0011 a0001c0001t0007g0130 |
2 | 8 | 0.2500 | 878 | c.*17 others(897): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(871): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0141 | 1 | 7 | 0.1429 | 878 | c.*17 others(897): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(871): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0126 | 1 | 7 | 0.1429 | 878 | c.*17 others(897): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1221592 | C | CTCTGCCT others(871): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18968.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0139 a0001c0002t0001g0170 |
2 | 161 | 0.0124 | 878 | c.719 others(897): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852561 | T | TCCCTCTC others(871): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 288 | 0.0035 | 878 | c.646 others(895): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852561 | T | TCCCTCTC others(871): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 288 | 0.0035 | 878 | c.646 others(895): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(871): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 3 | 0.3333 | 878 | c.597 others(895): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0012 a0001c0001t0002g0010 a0001c0001t0002g0017 others(8): Show |
11 | 98 | 0.1122 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0061 others(46): Show |
49 | 136 | 0.3603 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0034 | 1 | 88 | 0.0114 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02647.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0015 | a0001c0001t0002g0075 a0001c0001t0002g0147 a0001c0001t0007g0148 others(1): Show |
4 | 91 | 0.0440 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 88 | 0.0114 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 88 | 0.0114 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG02135.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 others(2): Show |
5 | 92 | 0.0543 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG02132.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0175 others(13): Show |
16 | 103 | 0.1553 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(76): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0041 a0001c0001t0001g0097 a0001c0001t0001g0124 others(76): Show |
79 | 166 | 0.4759 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 88 | 0.0114 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48698689 | G | GGCCTGGG others(871): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0044 | 1 | 88 | 0.0114 | 878 | c.263 others(895): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(871): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0299 | 1 | 241 | 0.0041 | 878 | c.728 others(895): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(871): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 241 | 0.0041 | 878 | c.728 others(895): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TOX_chr8_58800412_59124147 | 59092275 | A | ATATTATA others(871): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 149 | 0.0067 | 878 | c.102 others(897): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507129 | C | CATACGTA others(871): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 2 | 370 | 0.0054 | 878 | c.-23 others(895): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(871): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 298 | 0.0034 | 878 | c.-23 others(895): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351503 | C | CCCTCCCC others(871): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 200 | 0.0050 | 878 | c.*53 others(889): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3711 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(871): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 2 | 0.5000 | 878 | c.*53 others(889): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46293222 | G | GCAAGTTA others(871): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 260 | 0.0038 | 878 | c.339 others(895): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(871): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0131 | 1 | 100 | 0.0100 | 878 | c.-10 others(895): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1052419 | G | GGGGCTGG others(872): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03130.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0008a0001c0002t0011others(2): Show | a0001c0001t0001g0227 a0001c0002t0008g0036 a0001c0002t0011g0229 others(2): Show |
5 | 332 | 0.0151 | 879 | c.156 others(898): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 14/22 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 511307 | A | ACCTTCTT others(872): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02572.hp2 others(8): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0004a0004c0005others(3): Show | a0001c0001t0028a0001c0001t0055a0003c0004t0029others(8): Show | a0001c0001t0028g0208 a0001c0001t0055g0181 a0003c0004t0029g0182 others(8): Show |
11 | 390 | 0.0282 | 879 | c.170 others(898): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81577154 | C | CATTACCA others(872): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(45): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0035 others(45): Show |
48 | 263 | 0.1825 | 879 | c.301 others(898): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255704 | G | GGGCAGGC others(872): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0106 | a0002c0106t0001 | a0002c0106t0001g0240 | 1 | 260 | 0.0038 | 879 | c.85- others(896): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725467 | C | CGGTGGAT others(872): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0259 | 1 | 257 | 0.0039 | 879 | c.340 others(896): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |