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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UMAD1_chr7_7635752_7884223 | 7760412 | AAATAAT | A | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01175.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0103 a0001c0001t0001g0211 a0001c0001t0002g0015 others(41): Show |
44 | 140 | 0.3143 | -6 | c.83- others(23): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7778226 | TTGTGTG | T | intron_variant | MODIFIER | HG00639.hp2 HG01346.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0026others(8): Show | a0001c0001t0001g0018 a0001c0001t0024g0236 a0001c0001t0026g0230 others(8): Show |
11 | 139 | 0.0791 | -6 | c.83- others(23): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847056 | TAAAAAA | T | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02109.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0008a0001c0001t0027a0001c0001t0028others(6): Show | a0001c0001t0008g0161 a0001c0001t0027g0232 a0001c0001t0028g0014 others(6): Show |
9 | 66 | 0.1364 | -6 | c.157 others(25): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7864602 | TACACAC | T | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 HG01168.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0001g0102 others(19): Show |
22 | 46 | 0.4783 | -6 | c.157 others(25): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42069229 | AACACAC | A | upstream_gene_variant | MODIFIER | HG02647.hp2 NA18983.hp1 NA19064.hp2 |
a0003a0032 | a0003c0004a0032c0033 | a0003c0004t0001a0032c0033t0001 | a0003c0004t0001g0340 a0003c0004t0001g0341 a0032c0033t0001g0276 |
3 | 93 | 0.0323 | -6 | c.-20 others(17): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2087 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42077002 | GGTGTGT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(60): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0008a0001c0020others(42): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0180 a0001c0001t0001g0312 a0001c0001t0003g0009 others(60): Show |
63 | 94 | 0.6702 | -6 | c.319 others(21): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42122662 | CGTGTGT | C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02572.hp1 others(16): Show |
a0001a0003a0005others(9): Show | a0001c0134a0003c0102a0005c0019others(10): Show | a0001c0134t0004a0003c0102t0001a0005c0019t0001others(13): Show | a0001c0134t0004g0258 a0003c0102t0001g0307 a0005c0019t0001g0268 others(14): Show |
19 | 278 | 0.0683 | -6 | c.282 others(23): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMPS_chr3_124725452_124754273 | 124746755 | TTGTGTG | T | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01952.hp2 others(11): Show |
a0001a0002 | a0001c0011a0002c0002 | a0001c0011t0081a0002c0002t0009a0002c0002t0031others(1): Show | a0001c0011t0081g0115 a0002c0002t0009g0003 a0002c0002t0009g0014 others(4): Show |
14 | 21 | 0.6667 | -6 | c.*27 others(17): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 6/6 | 2708 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
UNC119B_chr12_120705458_120728640 | 120715969 | CTAGAAG | C | intron_variant | MODIFIER | HG01071.hp2 HG01123.hp1 HG01934.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009 | 5 | 396 | 0.0126 | -6 | c.359 others(21): Show |
UNC119B | ENSG00000175970.11 | transcript | ENST00000344651.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNC119_chr17_28541708_28557624 | 28542122 | CATATAT | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01243.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(4): Show |
22 | 149 | 0.1477 | -6 | c.*51 others(17): Show |
UNC119 | ENSG00000109103.12 | transcript | ENST00000335765.9 | protein_coding | 4585 | chr17 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17656852 | CAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01168.hp1 HG01169.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0004a0001c0002t0011a0001c0003t0001others(7): Show | a0001c0001t0004g0012 a0001c0002t0011g0039 a0001c0003t0001g0217 others(12): Show |
15 | 78 | 0.1923 | -6 | c.768 others(21): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 9/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17662468 | GTAATAA | G | intron_variant | MODIFIER | HG00733.hp2 HG01884.hp1 HG02145.hp2 others(20): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0008a0001c0002t0010a0001c0002t0011others(18): Show | a0001c0002t0008g0027 a0001c0002t0010g0033 a0001c0002t0010g0097 others(20): Show |
23 | 318 | 0.0723 | -6 | c.559 others(23): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 8/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17666912 | AAGACAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00733.hp1 others(63): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0007others(19): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0008others(43): Show | a0001c0002t0001g0157 a0001c0002t0003g0068 a0001c0002t0003g0096 others(63): Show |
66 | 318 | 0.2075 | -6 | c.469 others(21): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 6/43 | chr19 | TogoVar | |||||||
UNC13B_chr9_35157009_35410335 | 35161206 | AAATAAT | A | upstream_gene_variant | MODIFIER | NA18941.hp2 NA18943.hp2 NA18971.hp1 others(3): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0077 a0003c0002t0001g0079 a0003c0002t0001g0086 others(3): Show |
6 | 82 | 0.0732 | -6 | c.-10 others(17): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 802 | chr9 | TogoVar | |||||||
UNC13B_chr9_35157009_35410335 | 35184801 | CGGGGGG | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(39): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0002a0003c0016others(7): Show | a0001c0001t0001a0003c0002t0001a0003c0016t0001others(8): Show | a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0197 others(39): Show |
42 | 49 | 0.8571 | -6 | c.22+ others(23): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35228703 | AGTGTGT | A | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01891.hp2 others(13): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0002a0004c0005others(2): Show | a0001c0001t0001a0003c0002t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0128 a0001c0001t0001g0133 others(13): Show |
16 | 32 | 0.5000 | -6 | c.52+ others(19): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35241557 | GCACACA | G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(39): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0003a0002c0004others(10): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0001others(10): Show | a0001c0001t0001g0004 a0002c0003t0001g0208 a0002c0004t0001g0027 others(39): Show |
42 | 75 | 0.5600 | -6 | c.395 others(23): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 5/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35257580 | CAAAAAA | C | intron_variant | MODIFIER | HG01168.hp2 NA18612.hp1 NA18968.hp2 others(2): Show |
a0002a0014a0017 | a0002c0003a0014c0018a0017c0029 | a0002c0003t0001a0014c0018t0001a0017c0029t0001 | a0002c0003t0001g0026 a0002c0003t0001g0044 a0002c0003t0001g0052 others(2): Show |
5 | 84 | 0.0595 | -6 | c.469 others(23): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 6/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35309222 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(27): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0002a0004c0005others(3): Show | a0001c0001t0001a0003c0002t0001a0004c0005t0001others(3): Show | a0001c0001t0001g0066 a0001c0001t0001g0133 a0001c0001t0001g0141 others(27): Show |
30 | 38 | 0.7895 | -6 | c.900 others(23): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 9/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35319402 | CAAAAAA | C | intron_variant | MODIFIER | HG02004.hp2 HG02622.hp2 HG02630.hp1 others(4): Show |
a0002a0003a0014others(1): Show | a0002c0011a0003c0002a0014c0018others(1): Show | a0002c0011t0001a0003c0002t0001a0014c0018t0001others(1): Show | a0002c0011t0001g0175 a0002c0011t0001g0177 a0002c0011t0001g0178 others(4): Show |
7 | 20 | 0.3500 | -6 | c.941 others(25): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 11/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 53986580 | AATTAAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02109.hp2 others(6): Show |
a0001a0006a0012 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0018a0001c0002t0001others(3): Show | a0001c0001t0001g0035 a0001c0001t0018g0033 a0001c0002t0001g0031 others(6): Show |
9 | 156 | 0.0577 | -6 | c.-25 others(25): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54017484 | ATGTGTG | A | intron_variant | MODIFIER | HG02602.hp2 HG03492.hp2 HG03654.hp1 |
a0004 | a0004c0009a0004c0026 | a0004c0009t0005a0004c0009t0026a0004c0026t0001 | a0004c0009t0005g0132 a0004c0009t0026g0021 a0004c0026t0001g0022 |
3 | 81 | 0.0370 | -6 | c.298 others(25): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54026081 | CTTAATG | C | intron_variant | MODIFIER | HG02922.hp2 HG03225.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0059a0001c0002t0060a0001c0004t0028 | a0001c0001t0059g0147 a0001c0002t0060g0146 a0001c0004t0028g0148 |
3 | 156 | 0.0192 | -6 | c.298 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54117523 | TTCTCTC | T | intron_variant | MODIFIER | HG01943.hp1 HG02148.hp2 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0034a0001c0041a0002c0015others(2): Show | a0001c0034t0058a0001c0041t0025a0002c0015t0012others(2): Show | a0001c0034t0058g0149 a0001c0041t0025g0156 a0002c0015t0012g0047 others(2): Show |
5 | 25 | 0.2000 | -6 | c.298 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54172703 | GATATAT | G | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp1 HG03225.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0059a0001c0002t0021a0003c0008t0015 | a0001c0001t0059g0147 a0001c0002t0021g0080 a0003c0008t0015g0105 |
3 | 11 | 0.2727 | -6 | c.307 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54181485 | GTTTGTT | G | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01192.hp1 others(16): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(14): Show | a0001c0001t0001g0004 a0001c0001t0002g0074 a0001c0001t0002g0144 others(16): Show |
19 | 156 | 0.1218 | -6 | c.307 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54220586 | TAAAGTA | T | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0045a0001c0002t0022a0001c0002t0051 | a0001c0001t0045g0130 a0001c0002t0022g0086 a0001c0002t0022g0092 others(1): Show |
4 | 156 | 0.0256 | -6 | c.307 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | chr15 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54280725 | CATATGT | C | intron_variant | MODIFIER | NA18939.hp2 NA18947.hp2 NA19081.hp2 |
a0001a0005 | a0001c0002a0001c0029a0005c0027 | a0001c0002t0020a0001c0029t0046a0005c0027t0008 | a0001c0002t0020g0041 a0001c0029t0046g0143 a0005c0027t0008g0073 |
3 | 156 | 0.0192 | -6 | c.381 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 10/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54283710 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01515.hp2 others(28): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(24): Show | a0001c0001t0001g0013 a0001c0001t0006g0122 a0001c0001t0019g0042 others(28): Show |
31 | 35 | 0.8857 | -6 | c.381 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 10/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54296377 | TTTTTTA | T | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02886.hp1 others(2): Show |
a0001a0003a0006 | a0001c0014a0001c0020a0003c0037others(2): Show | a0001c0014t0002a0001c0020t0008a0003c0037t0008others(2): Show | a0001c0014t0002g0076 a0001c0020t0008g0085 a0003c0037t0008g0094 others(2): Show |
5 | 156 | 0.0321 | -6 | c.398 others(25): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 11/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54310740 | ATATATC | A | intron_variant | MODIFIER | HG00423.hp1 HG01123.hp1 HG01123.hp2 others(56): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(47): Show | a0001c0001t0001g0035 a0001c0001t0002g0067 a0001c0001t0006g0106 others(56): Show |
59 | 131 | 0.4504 | -6 | c.426 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 13/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54408199 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG02572.hp1 HG02572.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0030a0001c0002t0001a0001c0002t0023others(2): Show | a0001c0001t0030g0142 a0001c0002t0001g0018 a0001c0002t0023g0064 others(2): Show |
5 | 40 | 0.1250 | -6 | c.484 others(25): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 18/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54411616 | ATACTGT | A | intron_variant | MODIFIER | HG00639.hp2 HG01255.hp1 HG01361.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0006a0001c0001t0016a0001c0001t0017others(13): Show | a0001c0001t0006g0106 a0001c0001t0016g0113 a0001c0001t0017g0136 others(15): Show |
18 | 156 | 0.1154 | -6 | c.484 others(25): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 18/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54475281 | TTTATTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00735.hp2 others(38): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(31): Show | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0002g0144 others(38): Show |
41 | 57 | 0.7193 | -6 | c.493 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54486250 | AACACAC | A | intron_variant | MODIFIER | HG01255.hp1 HG01515.hp2 HG01891.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0013 a0001c0001t0002g0144 a0001c0001t0006g0122 others(9): Show |
12 | 32 | 0.3750 | -6 | c.493 others(25): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54503377 | CATAAAT | C | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0002 | a0001c0001t0011g0069 a0001c0003t0002g0088 |
2 | 156 | 0.0128 | -6 | c.530 others(25): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 22/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC45B_chr17_35142817_35194343 | 35175079 | GAAAGAA | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(86): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0017 others(64): Show |
89 | 432 | 0.2060 | -6 | c.195 others(23): Show |
UNC45B | ENSG00000141161.12 | transcript | ENST00000394570.7 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176808448 | CTGTGTG | C | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03195.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0002 | a0001c0001t0003g0244 a0001c0004t0002g0232 a0001c0004t0002g0233 |
3 | 28 | 0.1071 | -6 | c.-23 others(17): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 2110 | chr5 | TogoVar | |||||||
UNC5A_chr5_176805559_176885898 | 176834665 | TTCTCTC | T | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0047 a0001c0001t0001g0099 a0001c0001t0001g0229 others(1): Show |
4 | 34 | 0.1176 | -6 | c.70+ others(23): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71213675 | AATTATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(4): Show |
a0001a0002a0020 | a0001c0001a0001c0002a0002c0040others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0005g0302 others(4): Show |
7 | 131 | 0.0534 | -6 | c.79+ others(19): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71215806 | GGTGTGT | G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00738.hp2 others(64): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0052 a0001c0001t0001g0072 a0001c0001t0001g0082 others(62): Show |
67 | 116 | 0.5776 | -6 | c.79+ others(21): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71224364 | GACACAC | G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(22): Show | a0001c0001t0001g0186 a0001c0001t0001g0247 a0001c0001t0002g0272 others(29): Show |
32 | 140 | 0.2286 | -6 | c.79+ others(23): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71227707 | TACACAC | T | intron_variant | MODIFIER | HG00597.hp1 HG01256.hp1 HG02071.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0070a0001c0002t0002others(5): Show | a0001c0001t0002g0081 a0001c0001t0002g0097 a0001c0001t0002g0099 others(9): Show |
12 | 187 | 0.0642 | -6 | c.79+ others(23): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71227741 | CACACAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01168.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0002 | a0001c0001t0001g0005 a0001c0001t0001g0185 a0001c0001t0001g0229 others(3): Show |
7 | 366 | 0.0191 | -6 | c.79+ others(23): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71248865 | TCTCACA | T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(93): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0072 others(92): Show |
96 | 198 | 0.4848 | -6 | c.80- others(23): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71265024 | TCAAATG | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(52): Show |
a0001a0003a0019others(4): Show | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0009others(19): Show | a0001c0002t0001g0050 a0001c0002t0006g0089 a0001c0002t0009g0304 others(50): Show |
55 | 366 | 0.1503 | -6 | c.80- others(23): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71300029 | CTGTGTG | C | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02080.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0008 | a0001c0002t0008g0043 a0001c0003t0008g0019 a0001c0003t0008g0048 others(7): Show |
10 | 152 | 0.0658 | -6 | c.*78 others(15): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 17/17 | 780 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UNC5C_chr4_95157504_95553973 | 95211777 | TATTTAA | T | intron_variant | MODIFIER | HG00544.hp2 HG01884.hp2 HG02155.hp2 others(5): Show |
a0001 | a0001c0004a0001c0006a0001c0011others(3): Show | a0001c0004t0001a0001c0004t0018a0001c0006t0001others(4): Show | a0001c0004t0001g0009 a0001c0004t0001g0148 a0001c0004t0018g0159 others(5): Show |
8 | 204 | 0.0392 | -6 | c.173 others(25): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95256695 | AATAAAT | A | intron_variant | MODIFIER | HG00733.hp1 HG02698.hp1 HG02895.hp2 others(7): Show |
a0001a0002a0008 | a0001c0004a0001c0005a0001c0006others(3): Show | a0001c0004t0001a0001c0004t0007a0001c0005t0004others(4): Show | a0001c0004t0001g0009 a0001c0004t0001g0148 a0001c0004t0007g0093 others(7): Show |
10 | 197 | 0.0508 | -6 | c.595 others(23): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95292212 | TATATAC | T | intron_variant | MODIFIER | HG00544.hp1 HG02155.hp2 NA19000.hp1 |
a0001 | a0001c0003a0001c0005a0001c0034 | a0001c0003t0001a0001c0005t0001a0001c0034t0030 | a0001c0003t0001g0064 a0001c0005t0001g0099 a0001c0034t0030g0092 |
3 | 204 | 0.0147 | -6 | c.490 others(23): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 3/15 | chr4 | TogoVar |