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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNRPA_chr19_40746203_40770389 | 40768132 | A | AT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01175.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0027 others(30): Show |
38 | 412 | 0.0922 | 1 | c.*29 others(12): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 2744 | chr19 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40769400 | C | CA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00738.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0025 others(11): Show |
15 | 412 | 0.0364 | 1 | c.*42 others(12): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 4012 | chr19 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40770191 | C | CA | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01346.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0023 others(12): Show |
16 | 412 | 0.0388 | 1 | c.*50 others(12): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 4803 | chr19 | TogoVar | |||||||
SNRPB2_chr20_16725026_16747564 | 16725700 | C | CT | upstream_gene_variant | MODIFIER | HG01952.hp2 HG02004.hp2 HG04204.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0051 others(3): Show |
13 | 472 | 0.0275 | 1 | c.-45 others(12): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 4325 | chr20 | TogoVar | |||||||
SNRPB2_chr20_16725026_16747564 | 16726061 | C | CT | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0084 a0001c0001t0002g0002 a0001c0001t0004g0007 others(10): Show |
47 | 472 | 0.0996 | 1 | c.-41 others(12): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 3964 | chr20 | TogoVar | |||||||
SNRPB2_chr20_16725026_16747564 | 16726544 | C | CT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0028 others(9): Show |
52 | 472 | 0.1102 | 1 | c.-36 others(12): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 3481 | chr20 | TogoVar | |||||||
SNRPB2_chr20_16725026_16747564 | 16727456 | C | CA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02647.hp2 HG02717.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015a0001c0001t0016 | a0001c0001t0008g0018 a0001c0001t0008g0082 a0001c0001t0008g0083 others(3): Show |
11 | 472 | 0.0233 | 1 | c.-27 others(12): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 2569 | chr20 | TogoVar | |||||||
SNRPB2_chr20_16725026_16747564 | 16732074 | T | TG | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01169.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0004g0007 others(7): Show |
39 | 472 | 0.0826 | 1 | c.65- others(6): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNRPB2_chr20_16725026_16747564 | 16738052 | G | GA | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01074.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0002g0060 a0001c0001t0004g0007 a0001c0001t0004g0010 others(16): Show |
61 | 472 | 0.1292 | 1 | c.378 others(8): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNRPB2_chr20_16725026_16747564 | 16739364 | C | CT | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp2 HG01496.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0023 | a0001c0001t0007g0011 a0001c0001t0007g0089 a0001c0001t0007g0090 others(2): Show |
18 | 472 | 0.0381 | 1 | c.429 others(8): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNRPB2_chr20_16725026_16747564 | 16739905 | A | AT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0021 others(22): Show |
105 | 472 | 0.2225 | 1 | c.430 others(8): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNRPB2_chr20_16725026_16747564 | 16742069 | T | TA | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00639.hp2 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0015others(6): Show | a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0010 others(24): Show |
82 | 472 | 0.1737 | 1 | c.*10 others(6): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 7/7 | 1066 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNRPB2_chr20_16725026_16747564 | 16746886 | G | GA | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01175.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(21): Show |
42 | 472 | 0.0890 | 1 | c.*58 others(12): Show |
SNRPB2 | ENSG00000125870.11 | transcript | ENST00000246071.8 | protein_coding | 4323 | chr20 | TogoVar | |||||||
SNRPB_chr20_2456642_2475789 | 2458545 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(31): Show |
147 | 374 | 0.3931 | 1 | c.*33 others(12): Show |
SNRPB | ENSG00000125835.20 | transcript | ENST00000381342.7 | protein_coding | 3096 | chr20 | TogoVar | |||||||
SNRPB_chr20_2456642_2475789 | 2460971 | T | TA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(134): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(28): Show |
137 | 374 | 0.3663 | 1 | c.*95 others(10): Show |
SNRPB | ENSG00000125835.20 | transcript | ENST00000381342.7 | protein_coding | 670 | chr20 | TogoVar | |||||||
SNRPB_chr20_2456642_2475789 | 2464875 | T | TA | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0015 a0001c0001t0001g0057 a0001c0001t0001g0060 others(4): Show |
10 | 374 | 0.0267 | 1 | c.267 others(8): Show |
SNRPB | ENSG00000125835.20 | transcript | ENST00000381342.7 | protein_coding | 3/6 | chr20 | TogoVar | |||||||
SNRPB_chr20_2456642_2475789 | 2464887 | A | AC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(285): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(49): Show |
288 | 374 | 0.7701 | 1 | c.267 others(16): Show |
SNRPB | ENSG00000125835.20 | transcript | ENST00000381342.7 | protein_coding | 3/6 | chr20 | TogoVar | |||||||
SNRPB_chr20_2456642_2475789 | 2468722 | T | TC | intron_variant | MODIFIER | HG02132.hp1 HG02523.hp2 NA18940.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0080 others(2): Show |
8 | 374 | 0.0214 | 1 | c.4-9 others(6): Show |
SNRPB | ENSG00000125835.20 | transcript | ENST00000381342.7 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
SNRPB_chr20_2456642_2475789 | 2474048 | G | GT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG00735.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show |
26 | 374 | 0.0695 | 1 | c.-33 others(12): Show |
SNRPB | ENSG00000125835.20 | transcript | ENST00000381342.7 | protein_coding | 3260 | chr20 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34752678 | C | CA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(31): Show |
61 | 368 | 0.1658 | 1 | c.-48 others(12): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4826 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34753493 | C | CA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00642.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(34): Show |
64 | 368 | 0.1739 | 1 | c.-40 others(12): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4011 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34753510 | A | AC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01069.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0028 others(19): Show |
35 | 368 | 0.0951 | 1 | c.-40 others(12): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 3994 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34755484 | C | CA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(164): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(94): Show |
167 | 368 | 0.4538 | 1 | c.-20 others(12): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2020 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34756685 | A | AT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG00738.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(39): Show |
64 | 368 | 0.1739 | 1 | c.-85 others(10): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 819 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34759019 | C | CA | intron_variant | MODIFIER | HG00423.hp1 HG01175.hp2 HG01243.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0018 others(10): Show |
30 | 368 | 0.0815 | 1 | c.51+ others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34759038 | A | AG | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(26): Show |
64 | 368 | 0.1739 | 1 | c.51+ others(16): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34759041 | A | AG | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0032 others(20): Show |
50 | 368 | 0.1359 | 1 | c.51+ others(16): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34760111 | C | CT | intron_variant | MODIFIER | HG01261.hp2 NA18906.hp1 NA18948.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0001g0065 others(2): Show |
7 | 368 | 0.0190 | 1 | c.51+ others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34760889 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 others(32): Show |
74 | 368 | 0.2011 | 1 | c.52- others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34761057 | C | CA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0031 others(22): Show |
53 | 368 | 0.1440 | 1 | c.52- others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34761513 | A | AT | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG00741.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0025 others(14): Show |
29 | 368 | 0.0788 | 1 | c.52- others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34763415 | C | CT | intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 368 | 0.0109 | 1 | c.160 others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34763678 | C | CA | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01175.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0047 others(11): Show |
16 | 368 | 0.0435 | 1 | c.160 others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34764482 | C | CA | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(23): Show |
60 | 368 | 0.1630 | 1 | c.160 others(9): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34767875 | C | CT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(167): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(89): Show |
170 | 368 | 0.4620 | 1 | c.161 others(7): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34768753 | C | CA | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0084 others(3): Show |
6 | 368 | 0.0163 | 1 | c.250 others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34769229 | C | CT | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(67): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(30): Show |
70 | 368 | 0.1902 | 1 | c.251 others(9): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34771328 | C | CA | intron_variant | MODIFIER | HG01123.hp1 HG02135.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0068 others(2): Show |
6 | 368 | 0.0163 | 1 | c.355 others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34771349 | A | AG | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01069.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0028 others(22): Show |
39 | 368 | 0.1060 | 1 | c.355 others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34773091 | G | GA | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0152 |
4 | 368 | 0.0109 | 1 | c.356 others(8): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNRPC_chr6_34752505_34778857 | 34773923 | A | AT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(176): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(94): Show |
179 | 368 | 0.4864 | 1 | c.*35 others(10): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 67 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34774851 | C | CA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(1): Show |
6 | 368 | 0.0163 | 1 | c.*12 others(12): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 995 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34776089 | T | TG | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(103): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 others(59): Show |
106 | 368 | 0.2880 | 1 | c.*25 others(12): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2233 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34776851 | C | CA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(101): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(66): Show |
104 | 368 | 0.2826 | 1 | c.*32 others(12): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2995 | chr6 | TogoVar | |||||||
SNRPC_chr6_34752505_34778857 | 34778388 | C | CA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(30): Show |
68 | 368 | 0.1848 | 1 | c.*48 others(12): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 4532 | chr6 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21607329 | A | AT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00735.hp2 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0005g0005 a0001c0001t0005g0039 a0001c0001t0005g0225 others(28): Show |
35 | 358 | 0.0978 | 1 | c.-51 others(12): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 4984 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21608193 | G | GA | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0061 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0042 others(4): Show |
8 | 358 | 0.0224 | 1 | c.-42 others(12): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 4120 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21608237 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(185): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0003 a0001c0001t0001g0072 a0001c0001t0001g0101 others(143): Show |
188 | 358 | 0.5251 | 1 | c.-41 others(12): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 4076 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21611830 | C | CT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG00741.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0034 others(20): Show |
25 | 358 | 0.0698 | 1 | c.-60 others(10): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 483 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21613854 | C | CA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(77): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0002g0002 others(56): Show |
80 | 358 | 0.2235 | 1 | c.14+ others(8): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |