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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRI_chr7_88200115_88225038 | 88220357 | CT | C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG02622.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0005 a0001c0001t0003g0013 a0001c0001t0003g0020 others(5): Show |
16 | 402 | 0.0398 | -1 | c.-33 others(5): Show |
SRI | ENSG00000075142.14 | transcript | ENST00000265729.7 | protein_coding | 320 | chr7 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4188450 | GA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(96): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(94): Show |
99 | 358 | 0.2765 | -1 | c.*37 others(6): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 923 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4196471 | CT | C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0009 a0001c0001t0001g0109 a0001c0001t0001g0110 others(74): Show |
77 | 358 | 0.2151 | -1 | c.377 others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4197060 | CT | C | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG02258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0035 a0001c0001t0007g0002 a0001c0001t0007g0006 others(10): Show |
14 | 358 | 0.0391 | -1 | c.376 others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4198619 | AT | A | intron_variant | MODIFIER | HG02280.hp1 HG02647.hp2 HG02717.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0008a0001c0003t0009a0001c0003t0027others(2): Show | a0001c0001t0008g0018 a0001c0001t0008g0020 a0001c0001t0008g0022 others(13): Show |
16 | 358 | 0.0447 | -1 | c.260 others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 3/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4199364 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(133): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(131): Show |
136 | 358 | 0.3799 | -1 | c.260 others(9): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 3/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4203693 | GT | G | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0067 others(26): Show |
30 | 358 | 0.0838 | -1 | c.164 others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 2/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4205568 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(135): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(134): Show |
138 | 358 | 0.3855 | -1 | c.62- others(7): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4206754 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(157): Show |
161 | 358 | 0.4497 | -1 | c.62- others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4211162 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00558.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0102 others(74): Show |
77 | 358 | 0.2151 | -1 | c.62- others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4211312 | TG | T | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0085 a0001c0001t0001g0184 others(12): Show |
15 | 358 | 0.0419 | -1 | c.62- others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4213404 | CT | C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01517.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0182 others(19): Show |
22 | 358 | 0.0615 | -1 | c.62- others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4214770 | CT | C | intron_variant | MODIFIER | HG01361.hp2 HG01517.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0046 a0001c0001t0001g0167 a0001c0001t0001g0340 others(5): Show |
8 | 358 | 0.0224 | -1 | c.62- others(9): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4220827 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG02109.hp1 HG02258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0046 a0001c0001t0006g0272 a0001c0001t0007g0002 others(10): Show |
14 | 358 | 0.0391 | -1 | c.62- others(9): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4221053 | AT | A | intron_variant | MODIFIER | HG01175.hp1 HG02630.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0277 a0001c0001t0006g0052 others(3): Show |
6 | 358 | 0.0168 | -1 | c.62- others(9): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4223231 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(71): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(71): Show |
74 | 358 | 0.2067 | -1 | c.62- others(9): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4223380 | CT | C | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02055.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0085 others(19): Show |
22 | 358 | 0.0615 | -1 | c.61+ others(9): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4230381 | AT | A | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG01081.hp2 others(44): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0104 a0001c0001t0001g0231 others(43): Show |
47 | 358 | 0.1313 | -1 | c.61+ others(9): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4234703 | GA | G | intron_variant | MODIFIER | HG02886.hp1 HG03225.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0001c0001t0007a0002c0005t0009 | a0001c0001t0004g0113 a0001c0001t0007g0027 a0002c0005t0009g0026 |
3 | 358 | 0.0084 | -1 | c.61+ others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4238788 | AT | A | intron_variant | MODIFIER | HG01891.hp2 HG02027.hp2 HG02109.hp1 others(19): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0277 a0001c0001t0001g0279 others(18): Show |
22 | 358 | 0.0615 | -1 | c.61+ others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4239940 | GT | G | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02258.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0062 others(22): Show |
25 | 358 | 0.0698 | -1 | c.61+ others(8): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4243346 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(235): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 others(232): Show |
238 | 358 | 0.6648 | -1 | c.-12 others(6): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1267 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4243396 | CT | C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02622.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0075 a0001c0001t0001g0226 a0001c0001t0002g0178 others(12): Show |
15 | 358 | 0.0419 | -1 | c.-13 others(6): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1317 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4245647 | CT | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(178): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0028 others(176): Show |
181 | 358 | 0.5056 | -1 | c.-35 others(6): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 3568 | chr16 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63534450 | GC | G | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01167.hp1 others(56): Show |
a0003a0005a0006others(10): Show | a0003c0004a0003c0016a0005c0007others(11): Show | a0003c0004t0002a0003c0004t0021a0003c0004t0031others(14): Show | a0003c0004t0002g0003 a0003c0004t0002g0022 a0003c0004t0002g0038 others(24): Show |
59 | 356 | 0.1657 | -1 | c.*63 others(6): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 4038 | chr20 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63535764 | GC | G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02257.hp1 others(20): Show |
a0003a0005a0006others(2): Show | a0003c0004a0005c0007a0006c0008others(2): Show | a0003c0004t0002a0003c0004t0031a0003c0004t0032others(4): Show | a0003c0004t0002g0003 a0003c0004t0031g0103 a0003c0004t0032g0104 others(6): Show |
23 | 356 | 0.0646 | -1 | c.*50 others(6): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2724 | chr20 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63543325 | AG | A | frameshift_variant | HIGH | NA18962.hp1 | a0021 | a0021c0028 | a0021c0028t0001 | a0021c0028t0001g0099 | 1 | 356 | 0.0028 | -1 | c.633 others(4): Show |
p.Cys others(5): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 3/8 | 919/4082 | 633/1467 | 211/488 | chr20 | TogoVar | |||
SRMS_chr20_63533489_63552749 | 63550529 | GA | G | upstream_gene_variant | MODIFIER | HG02602.hp2 HG02698.hp1 HG03017.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0017a0004c0005t0006a0004c0005t0038 | a0001c0001t0017g0062 a0004c0005t0006g0005 a0004c0005t0006g0056 others(3): Show |
15 | 356 | 0.0421 | -1 | c.-30 others(6): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2781 | chr20 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63551750 | AT | A | upstream_gene_variant | MODIFIER | HG01258.hp2 HG01891.hp2 HG02683.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0007 | a0001c0001t0001a0001c0009t0015a0005c0007t0002 | a0001c0001t0001g0001 a0001c0009t0015g0027 a0001c0009t0015g0055 others(1): Show |
7 | 356 | 0.0197 | -1 | c.-42 others(6): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 4002 | chr20 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63552598 | CT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00735.hp1 others(21): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0002a0003c0004others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0034 others(16): Show |
24 | 356 | 0.0674 | -1 | c.-51 others(6): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 4850 | chr20 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11050521 | GT | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01099.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0077 others(4): Show |
11 | 346 | 0.0318 | -1 | c.*43 others(6): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 4067 | chr1 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11051258 | CT | C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01361.hp1 others(15): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 a0001c0003t0001g0017 a0001c0003t0001g0018 others(3): Show |
18 | 346 | 0.0520 | -1 | c.*36 others(6): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 3330 | chr1 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11052959 | TC | T | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02559.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(5): Show |
8 | 346 | 0.0231 | -1 | c.*19 others(6): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 1629 | chr1 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11055120 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 others(28): Show |
80 | 346 | 0.2312 | -1 | c.766 others(7): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11056048 | CT | C | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0074 | 1 | 346 | 0.0029 | -1 | c.581 others(4): Show |
p.Lys others(5): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 5/8 | 656/1260 | 581/909 | 194/302 | chr1 | TogoVar | |||
SRM_chr1_11049589_11065018 | 11056677 | AC | A | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0074 | 1 | 346 | 0.0029 | -1 | c.461 others(4): Show |
p.Gly others(5): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 4/8 | 536/1260 | 461/909 | 154/302 | chr1 | TogoVar | |||
SRM_chr1_11049589_11065018 | 11056725 | TG | T | frameshift_variant | HIGH | HG03490.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0063 | 1 | 346 | 0.0029 | -1 | c.413 others(4): Show |
p.Pro others(5): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 4/8 | 488/1260 | 413/909 | 138/302 | chr1 | TogoVar | |||
SRM_chr1_11049589_11065018 | 11057459 | AT | A | intron_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01167.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0073 a0001c0002t0001g0012 a0001c0002t0001g0049 others(7): Show |
26 | 346 | 0.0751 | -1 | c.382 others(8): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11057478 | TA | T | intron_variant | MODIFIER | HG01081.hp2 HG02735.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0082 |
3 | 346 | 0.0087 | -1 | c.382 others(8): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11058561 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0040 others(22): Show |
71 | 346 | 0.2052 | -1 | c.381 others(8): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11061459 | CA | C | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01256.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(21): Show |
36 | 346 | 0.1041 | -1 | c.-15 others(6): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 1442 | chr1 | TogoVar | |||||||
SRM_chr1_11049589_11065018 | 11064537 | CA | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01256.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0034 others(14): Show |
38 | 346 | 0.1098 | -1 | c.-45 others(6): Show |
SRM | ENSG00000116649.10 | transcript | ENST00000376957.7 | protein_coding | 4520 | chr1 | TogoVar | |||||||
SRP14_chr15_40030690_40044181 | 40034028 | CA | C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01975.hp1 HG02040.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0002t0002g0004 others(4): Show |
14 | 426 | 0.0329 | -1 | c.*23 others(6): Show |
SRP14 | ENSG00000140319.11 | transcript | ENST00000267884.11 | protein_coding | 1661 | chr15 | TogoVar | |||||||
SRP14_chr15_40030690_40044181 | 40035479 | GA | G | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01496.hp1 HG02145.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0027 others(3): Show |
23 | 426 | 0.0540 | -1 | c.*85 others(5): Show |
SRP14 | ENSG00000140319.11 | transcript | ENST00000267884.11 | protein_coding | 210 | chr15 | TogoVar | |||||||
SRP14_chr15_40030690_40044181 | 40039977 | CA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(128): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(17): Show |
131 | 426 | 0.3075 | -1 | c.-86 others(5): Show |
SRP14 | ENSG00000140319.11 | transcript | ENST00000267884.11 | protein_coding | 797 | chr15 | TogoVar | |||||||
SRP19_chr5_112856287_112874788 | 112856915 | TA | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00642.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0048 others(23): Show |
77 | 408 | 0.1887 | -1 | c.-44 others(6): Show |
SRP19 | ENSG00000153037.15 | transcript | ENST00000505459.6 | protein_coding | 4371 | chr5 | TogoVar | |||||||
SRP19_chr5_112856287_112874788 | 112866116 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(208): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(46): Show |
211 | 408 | 0.5172 | -1 | c.302 others(9): Show |
SRP19 | ENSG00000153037.15 | transcript | ENST00000505459.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRP19_chr5_112856287_112874788 | 112867764 | GT | G | 3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0006 a0001c0001t0016g0042 |
3 | 408 | 0.0074 | -1 | c.*23 others(5): Show |
SRP19 | ENSG00000153037.15 | transcript | ENST00000505459.6 | protein_coding | 5/5 | 233 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SRP19_chr5_112856287_112874788 | 112869287 | AG | A | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0035 | a0001c0001t0015g0017 a0001c0001t0035g0035 |
4 | 408 | 0.0098 | -1 | c.*17 others(6): Show |
SRP19 | ENSG00000153037.15 | transcript | ENST00000505459.6 | protein_coding | 5/5 | 1752 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SRP19_chr5_112856287_112874788 | 112871243 | AT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00738.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0002g0002 others(16): Show |
50 | 408 | 0.1226 | -1 | c.*37 others(6): Show |
SRP19 | ENSG00000153037.15 | transcript | ENST00000505459.6 | protein_coding | 1456 | chr5 | TogoVar |