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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHISA9_chr16_12896598_13245416 | 13037109 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0024a0001c0002t0006others(1): Show | a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0052 others(4): Show |
7 | 214 | 0.0327 | -8 | c.691 others(29): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13049153 | AGTATGTG others(1): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 HG03669.hp2 |
a0001a0003 | a0001c0001a0001c0004a0003c0007 | a0001c0001t0024a0001c0004t0009a0003c0007t0095 | a0001c0001t0024g0110 a0001c0004t0009g0072 a0003c0007t0095g0104 |
3 | 214 | 0.0140 | -8 | c.691 others(29): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13049156 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02523.hp1 HG02683.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0028others(1): Show | a0001c0001t0001g0069 a0001c0001t0004g0025 a0001c0001t0028g0137 others(1): Show |
4 | 214 | 0.0187 | -8 | c.691 others(29): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13107472 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00621.hp2 others(69): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0085 others(69): Show |
72 | 214 | 0.3365 | -8 | c.692 others(27): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13121832 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0063 a0001c0001t0003g0204 a0001c0001t0004g0009 others(9): Show |
12 | 214 | 0.0561 | -8 | c.692 others(27): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13173377 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01891.hp1 HG02155.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0020others(3): Show | a0001c0001t0007g0154 a0001c0001t0009g0214 a0001c0001t0020g0187 others(3): Show |
6 | 214 | 0.0280 | -8 | c.692 others(27): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13181306 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG02129.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(7): Show | a0001c0001t0001g0199 a0001c0001t0002g0003 a0001c0001t0016g0210 others(8): Show |
11 | 214 | 0.0514 | -8 | c.692 others(27): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13181308 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0088 | a0001c0001t0003g0180 a0001c0001t0088g0018 |
2 | 214 | 0.0094 | -8 | c.692 others(27): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13186288 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01167.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0002g0045 a0001c0001t0002g0173 a0001c0001t0004g0006 others(23): Show |
26 | 214 | 0.1215 | -8 | c.692 others(27): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13204134 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG03098.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0024others(1): Show | a0001c0001t0001g0208 a0001c0001t0007g0154 a0001c0001t0024g0038 others(1): Show |
4 | 214 | 0.0187 | -8 | c.847 others(23): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13204162 | CTATCTAT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01099.hp1 HG01993.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0142 a0001c0001t0001g0199 a0001c0001t0002g0003 others(9): Show |
12 | 214 | 0.0561 | -8 | c.847 others(23): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13204210 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG01975.hp1 HG01975.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011 | a0001c0001t0001g0011 a0001c0001t0005g0179 a0001c0001t0011g0126 |
3 | 214 | 0.0140 | -8 | c.847 others(23): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13222782 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0142 others(33): Show |
36 | 214 | 0.1682 | -8 | c.895 others(25): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13222811 | TACATACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0142 others(33): Show |
36 | 214 | 0.1682 | -8 | c.895 others(25): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44253425 | ATGTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG02027.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0001t0019others(16): Show | a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0108 others(41): Show |
44 | 380 | 0.1158 | -8 | c.600 others(25): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44266476 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02486.hp1 HG02486.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(11): Show | a0001c0001t0003g0276 a0001c0001t0010g0243 a0001c0001t0011g0251 others(13): Show |
16 | 380 | 0.0421 | -8 | c.600 others(27): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHKBP1_chr19_40571873_40596397 | 40577948 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG03927.hp2 HG04199.hp2 NA18970.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0008others(1): Show | a0001c0002t0001a0001c0006t0001a0002c0008t0001others(1): Show | a0001c0002t0001g0067 a0001c0006t0001g0084 a0002c0008t0001g0052 others(1): Show |
5 | 392 | 0.0128 | -8 | c.261 others(23): Show |
SHKBP1 | ENSG00000160410.15 | transcript | ENST00000291842.10 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SHKBP1_chr19_40571873_40596397 | 40595905 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00609.hp2 others(49): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0002g0167 a0001c0002t0001g0003 a0001c0002t0001g0008 others(36): Show |
52 | 392 | 0.1327 | -8 | c.*46 others(19): Show |
SHKBP1 | ENSG00000160410.15 | transcript | ENST00000291842.10 | protein_coding | 4509 | chr19 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5775923 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG02895.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0004others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0040 others(6): Show |
9 | 328 | 0.0274 | -8 | c.178 others(25): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5786894 | AGATCATT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(299): Show |
302 | 328 | 0.9207 | -8 | c.178 others(27): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5832797 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(113): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0022 others(113): Show |
116 | 328 | 0.3537 | -8 | c.179 others(27): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5839486 | AAGATAGA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(67): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0063 others(67): Show |
70 | 328 | 0.2134 | -8 | c.179 others(27): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5841170 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 NA19080.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0002t0002a0002c0004t0002 | a0001c0001t0003g0204 a0001c0002t0002g0193 a0002c0004t0002g0077 |
3 | 328 | 0.0092 | -8 | c.179 others(27): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5844770 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03516.hp1 HG03516.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0001c0002t0005a0002c0004t0002 | a0001c0002t0002g0297 a0001c0002t0005g0038 a0002c0004t0002g0287 |
3 | 328 | 0.0092 | -8 | c.179 others(27): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5850203 | CACTCTAT others(1): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0264 a0001c0002t0002g0134 a0001c0002t0002g0135 |
3 | 328 | 0.0092 | -8 | c.179 others(27): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
SHLD2_chr10_87090206_87196465 | 87157083 | TTAGTTTA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02723.hp1 HG03130.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0144 a0003c0004t0001g0145 a0003c0004t0001g0151 |
3 | 340 | 0.0088 | -8 | c.152 others(25): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHLD3_chr5_65620027_65635928 | 65624708 | CTCTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0017 others(16): Show |
47 | 406 | 0.1158 | -8 | c.-51 others(17): Show |
SHLD3 | ENSG00000253251.3 | transcript | ENST00000510585.3 | protein_coding | 318 | chr5 | TogoVar | |||||||
SHOC2_chr10_110914604_111018665 | 110917194 | ATTTTTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01261.hp1 HG01978.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0147 a0001c0001t0001g0148 others(18): Show |
22 | 386 | 0.0570 | -8 | c.-26 others(19): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 2409 | chr10 | TogoVar | |||||||
SHOX2_chr3_158090905_158111420 | 158096889 | AATATATA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG02486.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0057a0001c0001t0086 | a0001c0001t0041g0116 a0001c0001t0041g0210 a0001c0001t0057g0103 others(2): Show |
5 | 380 | 0.0132 | -8 | c.*11 others(19): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1130 | chr3 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158106571 | CAGAGAGA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01516.hp1 HG02055.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0034others(7): Show | a0001c0001t0004g0096 a0001c0001t0004g0141 a0001c0001t0007g0015 others(9): Show |
13 | 380 | 0.0342 | -8 | c.-55 others(17): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 152 | chr3 | TogoVar | |||||||
SHOX_chrX_625791_656584 | 645388 | GTATTTTT others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02559.hp1 HG02886.hp1 HG02886.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0158a0001c0001t0159a0001c0001t0161others(5): Show | a0001c0001t0158g0139 a0001c0001t0159g0172 a0001c0001t0161g0086 others(5): Show |
8 | 220 | 0.0364 | -8 | c.*75 others(17): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 754 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHOX_chrX_625791_656584 | 655568 | GTCTCTCT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02886.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0158a0001c0001t0163 | a0001c0001t0158g0139 a0001c0001t0163g0016 |
2 | 220 | 0.0091 | -8 | c.*10 others(21): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 3985 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655608 | CTCTCTCT others(1): Show |
C | downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0173 | 1 | 220 | 0.0046 | -8 | c.*10 others(21): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4025 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655610 | CTCTCTAT others(1): Show |
C | downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0179 | 1 | 220 | 0.0046 | -8 | c.*10 others(21): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4027 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655612 | CTCTATAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01975.hp1 HG02273.hp1 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0067a0001c0001t0068 | a0001c0001t0039g0203 a0001c0001t0067g0136 a0001c0001t0068g0039 |
3 | 220 | 0.0136 | -8 | c.*10 others(21): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4029 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655614 | CTATATAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 NA18941.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0060a0001c0001t0106a0001c0001t0155 | a0001c0001t0060g0185 a0001c0001t0106g0042 a0001c0001t0155g0003 |
3 | 220 | 0.0136 | -8 | c.*10 others(21): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4031 | chrX | TogoVar | |||||||
SHPK_chr17_3603240_3641250 | 3609322 | TGAGAGAG others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19005.hp1 NA19012.hp1 NA19058.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0130 a0001c0001t0010g0181 a0001c0001t0010g0183 others(2): Show |
5 | 382 | 0.0131 | -8 | c.*12 others(19): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 7/7 | 1230 | chr17 | TogoVar | ||||||
SHPK_chr17_3603240_3641250 | 3611569 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | NA19005.hp1 NA19012.hp1 NA19058.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0130 a0001c0001t0010g0181 a0001c0001t0010g0183 others(2): Show |
5 | 382 | 0.0131 | -8 | c.102 others(25): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 6/6 | chr17 | TogoVar | |||||||
SHPRH_chr6_145879807_145969358 | 145944500 | GGTCGAAC others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(110): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0014a0001c0019others(6): Show | a0001c0001t0001a0001c0014t0001a0001c0019t0001others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(89): Show |
113 | 354 | 0.3192 | -8 | c.157 others(25): Show |
SHPRH | ENSG00000146414.17 | transcript | ENST00000275233.12 | protein_coding | 8/29 | chr6 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72763022 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02559.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0151 a0001c0001t0003g0033 others(10): Show |
13 | 222 | 0.0586 | -8 | c.118 others(29): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833444 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00642.hp2 others(19): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0002c0002t0001g0013 others(19): Show |
22 | 222 | 0.0991 | -8 | c.487 others(23): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833495 | TAGATAGA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 NA18945.hp2 NA18986.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0084 others(2): Show |
5 | 222 | 0.0225 | -8 | c.487 others(25): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833499 | TAGACAGA others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01884.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(8): Show |
11 | 222 | 0.0496 | -8 | c.487 others(25): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833534 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 HG02559.hp1 others(13): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0009 | a0002c0002t0001a0002c0002t0005a0003c0003t0001others(1): Show | a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0192 others(13): Show |
16 | 222 | 0.0721 | -8 | c.487 others(25): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852106 | CTATATAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02683.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0074 others(4): Show |
7 | 222 | 0.0315 | -8 | c.-37 others(19): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3662 | chr3 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9799157 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0011 | 1 | 256 | 0.0039 | -8 | c.165 others(27): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9815434 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00673.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0013others(4): Show | a0001c0001t0001a0001c0003t0001a0002c0013t0033others(4): Show | a0001c0001t0001g0110 a0001c0003t0001g0024 a0002c0013t0033g0197 others(6): Show |
9 | 256 | 0.0352 | -8 | c.165 others(27): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9823059 | CCTCCTCC others(1): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0111 | 1 | 256 | 0.0039 | -8 | c.165 others(27): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9833608 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | NA18747.hp1 NA19064.hp1 |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0108 a0002c0005t0002g0190 |
2 | 256 | 0.0078 | -8 | c.166 others(27): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9855544 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03195.hp1 NA19043.hp1 others(1): Show |
a0002a0004a0049 | a0002c0013a0002c0019a0004c0015others(1): Show | a0002c0013t0033a0002c0019t0006a0004c0015t0002others(1): Show | a0002c0013t0033g0197 a0002c0019t0006g0223 a0004c0015t0002g0226 others(1): Show |
4 | 256 | 0.0156 | -8 | c.166 others(27): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar |