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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHCBP1_chr16_46573591_46626379 | 46592951 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00621.hp2 others(63): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(47): Show |
66 | 184 | 0.3587 | 5 | c.146 others(24): Show |
SHCBP1 | ENSG00000171241.9 | transcript | ENST00000303383.8 | protein_coding | 10/12 | chr16 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4278997 | T | TCTCCC | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02559.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0005a0002c0003t0005 | a0001c0001t0003g0035 a0001c0001t0005g0329 a0001c0001t0005g0331 others(6): Show |
11 | 462 | 0.0238 | 5 | c.-10 others(16): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 268 | chr19 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4293260 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02135.hp1 HG02155.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0003a0001c0005t0001a0002c0002t0001others(4): Show | a0001c0001t0003g0147 a0001c0001t0003g0227 a0001c0005t0001g0024 others(6): Show |
9 | 462 | 0.0195 | 5 | c.*26 others(16): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 2539 | chr19 | TogoVar | |||||||
SHISA2_chr13_26039597_26057016 | 26040619 | T | TTTTTC | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(70): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0027a0001c0002t0002a0001c0002t0007others(12): Show | a0001c0001t0027g0202 a0001c0002t0002g0003 a0001c0002t0002g0012 others(33): Show |
73 | 456 | 0.1601 | 5 | c.*58 others(16): Show |
SHISA2 | ENSG00000180730.5 | transcript | ENST00000319420.4 | protein_coding | 3977 | chr13 | TogoVar | |||||||
SHISA2_chr13_26039597_26057016 | 26042383 | C | CAAACA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(186): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(48): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(108): Show |
189 | 456 | 0.4145 | 5 | c.*41 others(16): Show |
SHISA2 | ENSG00000180730.5 | transcript | ENST00000319420.4 | protein_coding | 2213 | chr13 | TogoVar | |||||||
SHISA2_chr13_26039597_26057016 | 26054323 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01074.hp1 HG02145.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0022a0001c0001t0027a0001c0001t0028others(3): Show | a0001c0001t0022g0065 a0001c0001t0022g0067 a0001c0001t0027g0202 others(5): Show |
14 | 456 | 0.0307 | 5 | c.-33 others(16): Show |
SHISA2 | ENSG00000180730.5 | transcript | ENST00000319420.4 | protein_coding | 2308 | chr13 | TogoVar | |||||||
SHISA4_chr1_201883898_201897587 | 201887110 | G | GTGGTT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG03195.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0002 a0001c0001t0010g0002 |
4 | 418 | 0.0096 | 5 | c.-18 others(16): Show |
SHISA4 | ENSG00000198892.7 | transcript | ENST00000362011.7 | protein_coding | 1787 | chr1 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11277241 | T | TCTCTC | intron_variant | MODIFIER | HG02056.hp2 NA18951.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0010 | a0001c0001t0004g0187 a0001c0002t0010g0096 |
2 | 192 | 0.0104 | 5 | c.799 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11303051 | C | CCAGTG | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0004g0054 others(6): Show |
9 | 192 | 0.0469 | 5 | c.799 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11320669 | A | AGAGAG | intron_variant | MODIFIER | NA18999.hp2 NA19084.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0023 | a0001c0001t0010g0159 a0001c0002t0023g0001 |
2 | 192 | 0.0104 | 5 | c.799 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11350185 | T | TATTTA | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG02040.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0060 others(15): Show |
18 | 192 | 0.0938 | 5 | c.800 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11357187 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01361.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0024 others(24): Show |
27 | 192 | 0.1406 | 5 | c.800 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11368304 | A | AGTTTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(102): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0024 others(102): Show |
105 | 192 | 0.5469 | 5 | c.800 others(24): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 13003863 | A | AATAAT | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0034others(3): Show | a0001c0001t0002g0060 a0001c0001t0006g0042 a0001c0001t0034g0121 others(3): Show |
6 | 214 | 0.0280 | 5 | c.691 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13015986 | C | CTTCTT | intron_variant | MODIFIER | HG02280.hp2 HG02896.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0048a0001c0002t0062 | a0001c0001t0009g0214 a0001c0001t0048g0057 a0001c0002t0062g0182 |
3 | 214 | 0.0140 | 5 | c.691 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13052959 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG01884.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0013others(8): Show | a0001c0001t0004g0086 a0001c0001t0007g0114 a0001c0001t0007g0135 others(9): Show |
12 | 214 | 0.0561 | 5 | c.691 others(26): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13140085 | T | TCTTCC | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00639.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0008 a0001c0001t0001g0120 a0001c0001t0001g0199 others(21): Show |
24 | 214 | 0.1122 | 5 | c.692 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13140138 | T | TCCCTC | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01884.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0031others(5): Show | a0001c0001t0003g0034 a0001c0001t0012g0145 a0001c0001t0031g0082 others(5): Show |
8 | 214 | 0.0374 | 5 | c.692 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13142984 | G | GTTTCC | intron_variant | MODIFIER | HG02015.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0028 | a0001c0001t0007g0189 a0001c0001t0028g0172 |
2 | 214 | 0.0094 | 5 | c.692 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13142989 | C | CTTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0031 a0001c0001t0001g0069 a0001c0001t0001g0084 others(49): Show |
52 | 214 | 0.2430 | 5 | c.692 others(24): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13196396 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(54): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0094 others(54): Show |
57 | 214 | 0.2664 | 5 | c.692 others(22): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13196407 | A | AAAAAG | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0115 a0001c0001t0003g0081 a0001c0001t0004g0041 others(11): Show |
14 | 214 | 0.0654 | 5 | c.692 others(22): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13200442 | A | ACACAC | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG02109.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0006a0001c0001t0009a0001c0001t0020others(9): Show | a0001c0001t0006g0042 a0001c0001t0006g0083 a0001c0001t0009g0214 others(11): Show |
14 | 214 | 0.0654 | 5 | c.692 others(22): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44263079 | C | CTTTCT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0159 a0001c0001t0001g0184 a0001c0001t0002g0063 others(76): Show |
80 | 380 | 0.2105 | 5 | c.600 others(24): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44277449 | C | CAAACA | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01952.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(5): Show | a0001c0001t0002g0268 a0001c0001t0007g0023 a0001c0001t0009g0155 others(6): Show |
9 | 380 | 0.0237 | 5 | c.599 others(22): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44288703 | G | GATGTT | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00621.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0164 a0001c0001t0001g0184 a0001c0001t0001g0227 others(40): Show |
45 | 380 | 0.1184 | 5 | c.282 others(22): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44296157 | C | CTCTTT | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0034a0001c0001t0038a0001c0002t0020others(4): Show | a0001c0001t0034g0263 a0001c0001t0038g0011 a0001c0002t0020g0335 others(5): Show |
8 | 380 | 0.0211 | 5 | c.281 others(20): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
SHISAL2A_chr1_52628168_52662065 | 52645396 | C | CGTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01175.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0089 others(15): Show |
18 | 444 | 0.0405 | 5 | c.322 others(22): Show |
SHISAL2A | ENSG00000182183.15 | transcript | ENST00000517870.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5750497 | T | TGGGGG | intron_variant | MODIFIER | HG00597.hp1 HG01175.hp1 HG01243.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(25): Show |
28 | 328 | 0.0854 | 5 | c.-5+ others(16): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5764139 | A | ATATAT | intron_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG01496.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0004t0002others(1): Show | a0001c0001t0001g0323 a0001c0002t0002g0324 a0001c0002t0002g0326 others(3): Show |
6 | 328 | 0.0183 | 5 | c.-4- others(20): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | chr20 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5767122 | A | ATTTTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(73): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0087 others(73): Show |
76 | 328 | 0.2317 | 5 | c.-4- others(20): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5800017 | A | ATGAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0011others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(290): Show |
293 | 328 | 0.8933 | 5 | c.178 others(24): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5817394 | T | TCTCTC | intron_variant | MODIFIER | HG02647.hp2 HG03654.hp2 NA19084.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0002 | a0001c0001t0001g0197 a0001c0001t0002g0259 a0002c0004t0002g0271 |
3 | 328 | 0.0092 | 5 | c.178 others(24): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5849965 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0215 others(8): Show |
11 | 328 | 0.0335 | 5 | c.179 others(24): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5856977 | A | ATTTTG | intron_variant | MODIFIER | HG01496.hp2 NA19009.hp2 NA19056.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0002 | a0001c0002t0001g0129 a0001c0002t0001g0216 a0002c0004t0002g0244 |
3 | 328 | 0.0092 | 5 | c.179 others(22): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5867573 | C | CAAAAT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(207): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(23): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0021 others(207): Show |
210 | 328 | 0.6402 | 5 | c.*41 others(16): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 3179 | chr20 | TogoVar | |||||||
SHLD2_chr10_87090206_87196465 | 87107094 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(71): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0179 others(70): Show |
74 | 340 | 0.2177 | 5 | c.-6+ others(22): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87107107 | A | AAAAAG | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01243.hp1 others(25): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0009a0005c0006t0001 | a0001c0001t0001g0011 a0001c0001t0001g0077 a0001c0001t0001g0078 others(25): Show |
28 | 340 | 0.0824 | 5 | c.-6+ others(22): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87144616 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01978.hp1 HG02129.hp2 others(5): Show |
a0001a0005a0006 | a0001c0002a0005c0006a0006c0007 | a0001c0002t0002a0005c0006t0001a0006c0007t0002 | a0001c0002t0002g0195 a0001c0002t0002g0201 a0001c0002t0002g0220 others(5): Show |
8 | 340 | 0.0235 | 5 | c.-5- others(20): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87163936 | A | ATTTTC | intron_variant | MODIFIER | HG01169.hp1 HG02615.hp1 HG02723.hp2 others(3): Show |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0001a0001c0001t0003a0011c0013t0003 | a0001c0001t0001g0018 a0001c0001t0001g0099 a0001c0001t0001g0100 others(3): Show |
6 | 340 | 0.0177 | 5 | c.163 others(24): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87166349 | C | CTAGAG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(170): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(169): Show |
173 | 340 | 0.5088 | 5 | c.163 others(24): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHLD3_chr5_65620027_65635928 | 65624708 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp1 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 others(23): Show |
56 | 406 | 0.1379 | 5 | c.-51 others(14): Show |
SHLD3 | ENSG00000253251.3 | transcript | ENST00000510585.3 | protein_coding | 318 | chr5 | TogoVar | |||||||
SHLD3_chr5_65620027_65635928 | 65624711 | T | TCTCTC | upstream_gene_variant | MODIFIER | HG02970.hp1 HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0040 a0001c0001t0007g0041 |
3 | 406 | 0.0074 | 5 | c.-51 others(14): Show |
SHLD3 | ENSG00000253251.3 | transcript | ENST00000510585.3 | protein_coding | 315 | chr5 | TogoVar | |||||||
SHLD3_chr5_65620027_65635928 | 65627131 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01069.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0038 a0001c0001t0003g0007 a0001c0001t0003g0022 others(9): Show |
34 | 406 | 0.0837 | 5 | c.-12 others(24): Show |
SHLD3 | ENSG00000253251.3 | transcript | ENST00000510585.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SHLD3_chr5_65620027_65635928 | 65627333 | A | AAGTTC | intron_variant | MODIFIER | HG01496.hp2 HG01928.hp1 HG01943.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0053 a0001c0001t0002g0055 |
5 | 406 | 0.0123 | 5 | c.-12 others(24): Show |
SHLD3 | ENSG00000253251.3 | transcript | ENST00000510585.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SHMT1_chr17_18322873_18368550 | 18352150 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG01070.hp1 HG01081.hp1 others(43): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0005 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(41): Show |
46 | 220 | 0.2091 | 5 | c.242 others(22): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 3/11 | chr17 | TogoVar | |||||||
SHOX2_chr3_158090905_158111420 | 158107689 | A | ACCCCC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01358.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0152 others(33): Show |
38 | 380 | 0.1000 | 5 | c.-16 others(16): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 1270 | chr3 | TogoVar | |||||||
SHOX_chrX_625791_656584 | 626366 | C | CTGTCT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG02897.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0072a0001c0001t0166 | a0001c0001t0016g0069 a0001c0001t0072g0114 a0001c0001t0166g0077 |
3 | 220 | 0.0136 | 5 | c.-45 others(16): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4424 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 626398 | T | TCTCTC | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0174 | a0001c0001t0174g0126 | 1 | 220 | 0.0046 | 5 | c.-45 others(16): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4392 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 631530 | T | TTTTTG | intron_variant | MODIFIER | NA19089.hp1 | a0005 | a0005c0004 | a0005c0004t0076 | a0005c0004t0076g0012 | 1 | 220 | 0.0046 | 5 | c.277 others(20): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar |