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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 334 | 0.0030 | 18 | c.83- others(33): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 334 | 0.0030 | 18 | c.83- others(33): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01261.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0031 a0001c0001t0001g0059 a0001c0001t0001g0113 others(8): Show |
11 | 334 | 0.0329 | 18 | c.83- others(33): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATGT others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG02155.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0112 a0001c0001t0001g0129 a0001c0001t0001g0151 others(4): Show |
7 | 334 | 0.0210 | 18 | c.83- others(33): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATGTGT others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02683.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0098 a0001c0001t0002g0159 a0001c0001t0002g0247 others(2): Show |
5 | 334 | 0.0150 | 18 | c.83- others(33): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 334 | 0.0030 | 18 | c.83- others(33): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893914 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0263 |
2 | 334 | 0.0060 | 18 | c.83- others(33): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172893935 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080 a0001c0001t0002g0125 |
2 | 334 | 0.0060 | 18 | c.83- others(33): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172903968 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0237 |
2 | 334 | 0.0060 | 18 | c.156 others(35): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172908318 | G | GGGGGGGG others(11): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 334 | 0.0030 | 18 | c.156 others(35): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
ERGIC3_chr20_35537078_35562634 | 35553020 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 364 | 0.0028 | 18 | c.686 others(35): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38407647 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0205 | 1 | 360 | 0.0028 | 18 | c.389 others(35): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 3/9 | chr21 | TogoVar | |||||||
ERG_chr21_38375036_38503477 | 38418270 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 360 | 0.0028 | 18 | c.388 others(35): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 3/9 | chr21 | TogoVar | |||||||
ERG_chr21_38375036_38503477 | 38466300 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 360 | 0.0028 | 18 | c.19- others(35): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44259689 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01978.hp2 HG02004.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0103 others(12): Show |
15 | 340 | 0.0441 | 18 | c.832 others(37): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 699775 | A | ACCCGCAC others(11): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0084 | 1 | 378 | 0.0027 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 699802 | C | CGCGCACA others(11): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02647.hp2 HG03098.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0004 | a0001c0001t0002a0002c0005t0001a0002c0005t0002others(1): Show | a0001c0001t0002g0330 a0002c0005t0001g0235 a0002c0005t0001g0236 others(2): Show |
5 | 378 | 0.0132 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 699838 | G | GGCGCACA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(125): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(121): Show |
128 | 378 | 0.3386 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 699901 | A | ACCCGCAC others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0356 | 1 | 378 | 0.0027 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 699937 | A | ACCCGCAC others(11): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0310 | 1 | 378 | 0.0027 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 699955 | G | GCCCGCAC others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 378 | 0.0027 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700479 | G | GGCGCACA others(11): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0084 | 1 | 378 | 0.0027 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700515 | G | GGCGCACA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02165.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0099 a0001c0001t0001g0216 others(1): Show |
4 | 378 | 0.0106 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700533 | G | GGCGCACA others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03471.hp1 HG03516.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240 |
3 | 378 | 0.0079 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700533 | G | GGCGCACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp2 others(14): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0216 a0001c0001t0001g0228 a0001c0001t0002g0317 others(14): Show |
17 | 378 | 0.0450 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700551 | C | CGCGCACA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0237 | 1 | 378 | 0.0027 | 18 | c.170 others(35): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH2_chr2_170765378_170803977 | 170767747 | G | GTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 390 | 0.0026 | 18 | c.-29 others(29): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 2630 | chr2 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98070660 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01109.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0055 others(6): Show |
10 | 442 | 0.0226 | 18 | c.58+ others(33): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98075048 | T | TTTGTCTG others(11): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 442 | 0.0023 | 18 | c.58+ others(35): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98075785 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0430 | 1 | 442 | 0.0023 | 18 | c.58+ others(35): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150658031 | A | AAATAATA others(11): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG01934.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0029a0002c0002others(4): Show | a0001c0001t0001a0001c0029t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0098 a0001c0001t0001g0132 a0001c0029t0001g0137 others(6): Show |
9 | 348 | 0.0259 | 18 | c.*18 others(29): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1853 | chr3 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150672264 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02622.hp2 NA18981.hp2 |
a0001a0002a0003 | a0001c0014a0002c0002a0003c0004 | a0001c0014t0001a0002c0002t0001a0003c0004t0002 | a0001c0014t0001g0024 a0002c0002t0001g0267 a0003c0004t0002g0195 |
3 | 348 | 0.0086 | 18 | c.134 others(37): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150703806 | C | CTCCTCCT others(11): Show |
disruptive_inframe_insertion | MODERATE | NA20129.hp1 | a0020 | a0020c0020 | a0020c0020t0001 | a0020c0020t0001g0015 | 1 | 348 | 0.0029 | 18 | c.92_ others(23): Show |
p.Glu others(29): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 114/2021 | 92/1992 | 31/663 | chr3 | TogoVar | |||
ERMN_chr2_157313631_157330824 | 157324093 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 368 | 0.0027 | 18 | c.334 others(33): Show |
ERMN | ENSG00000136541.15 | transcript | ENST00000410096.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
ERMP1_chr9_5779572_5838117 | 5823684 | A | ACACTTGG others(11): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 a0001c0001t0002g0250 |
2 | 378 | 0.0053 | 18 | c.874 others(33): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 4/14 | chr9 | TogoVar | |||||||
ERMP1_chr9_5779572_5838117 | 5834703 | A | ATGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 378 | 0.0027 | 18 | c.-16 others(29): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 1587 | chr9 | TogoVar | |||||||
ERO1A_chr14_52634915_52700558 | 52647142 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0317 a0001c0001t0006g0027 |
2 | 398 | 0.0050 | 18 | c.112 others(35): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 13/15 | chr14 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 99987756 | A | ATTATAAT others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0116 a0001c0001t0008g0117 |
2 | 220 | 0.0091 | 18 | c.101 others(37): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100043291 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0093 a0001c0001t0016g0092 |
2 | 220 | 0.0091 | 18 | c.286 others(35): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007442 | A | ACTCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 402 | 0.0025 | 18 | c.*57 others(29): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4284 | chr1 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007481 | C | CTCTATAT others(11): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 402 | 0.0025 | 18 | c.*57 others(29): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4245 | chr1 | TogoVar | |||||||
ERVK3-1_chr19_58300377_58321812 | 58300854 | C | CTCTCTTC others(11): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02809.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 others(7): Show |
15 | 424 | 0.0354 | 18 | c.-47 others(29): Show |
ERVK3-1 | ENSG00000142396.11 | transcript | ENST00000413518.6 | protein_coding | 4522 | chr19 | TogoVar | |||||||
ERVK3-1_chr19_58300377_58321812 | 58317583 | T | TAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 | 2 | 424 | 0.0047 | 18 | c.*28 others(29): Show |
ERVK3-1 | ENSG00000142396.11 | transcript | ENST00000413518.6 | protein_coding | 772 | chr19 | TogoVar | |||||||
ERVMER34-1_chr4_52737553_52756425 | 52746233 | T | TGGTCTGG others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0027 | 1 | 392 | 0.0026 | 18 | c.-42 others(35): Show |
ERVMER34-1 | ENSG00000226887.8 | transcript | ENST00000443173.6 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
ERVV-2_chr19_53039740_53056680 | 53044536 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0001 a0001c0002t0007g0008 |
2 | 446 | 0.0045 | 18 | c.-80 others(27): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 203 | chr19 | TogoVar | |||||||
ERVV-2_chr19_53039740_53056680 | 53051136 | C | CTTTTTTT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0010 a0001c0001t0018g0024 |
2 | 446 | 0.0045 | 18 | c.*28 others(27): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 2/2 | 306 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ESCO1_chr18_21524284_21605704 | 21525012 | G | GTGTATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01256.hp2 HG02738.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0002a0002c0002t0001 | a0001c0001t0001g0076 a0001c0003t0002g0185 a0002c0002t0001g0007 others(4): Show |
7 | 310 | 0.0226 | 18 | c.*53 others(29): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 4271 | chr18 | TogoVar | |||||||
ESCO1_chr18_21524284_21605704 | 21525012 | G | GTGTGTAT others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG02559.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0197 a0002c0002t0001g0213 |
2 | 310 | 0.0065 | 18 | c.*53 others(29): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 4271 | chr18 | TogoVar | |||||||
ESCO1_chr18_21524284_21605704 | 21593597 | T | TAGGGAGA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(105): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(103): Show |
108 | 310 | 0.3484 | 18 | c.-82 others(37): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 1/11 | chr18 | TogoVar | |||||||
ESCO1_chr18_21524284_21605704 | 21593613 | G | GAGAGGGA others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 310 | 0.0032 | 18 | c.-82 others(37): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 1/11 | chr18 | TogoVar |