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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAG4_chr20_35610829_35626094 | 35615424 | A | AAGGAAAG others(33): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 116 | 0.0172 | 40 | c.-58 others(49): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 136 | 0.0074 | 40 | c.-18 others(51): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG6_chr10_22340496_22422610 | 22413688 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 78 | 0.0128 | 40 | c.146 others(59): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51077005 | G | GCTATCTA others(33): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0004 | a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0240 others(9): Show |
12 | 277 | 0.0433 | 40 | c.424 others(57): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51077029 | T | TCTATCTA others(33): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0159 | 1 | 240 | 0.0042 | 40 | c.424 others(57): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24309283 | T | TTATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 NA18959.hp1 NA19067.hp2 |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0020a0001c0004t0001a0001c0005t0003 | a0001c0001t0020g0085 a0001c0004t0001g0160 a0001c0005t0003g0316 |
3 | 93 | 0.0323 | 40 | c.*65 others(51): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2215 | chr13 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172960875 | C | CTCTTTCT others(33): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0056 | 1 | 79 | 0.0127 | 40 | c.934 others(57): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173028013 | C | CCCTCCCT others(33): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0181 | 1 | 111 | 0.0090 | 40 | c.759 others(57): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123132614 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094 | 1 | 252 | 0.0040 | 40 | c.234 others(61): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200468347 | T | TACACACA others(33): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01993.hp1 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0019 | a0001c0001t0002g0150 a0001c0001t0002g0174 a0002c0004t0019g0135 |
3 | 29 | 0.1034 | 40 | c.957 others(55): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPCS3_chr4_176314966_176337245 | 176327443 | T | TCCCCCCC others(33): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 468 | 0.0021 | 40 | c.410 others(55): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPDYE1_chr7_43992897_44015124 | 43994418 | G | GAAAGAAA others(33): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 163 | 0.0061 | 40 | c.-39 others(51): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 3478 | chr7 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35751001 | A | ATATATAC others(33): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02451.hp2 HG02622.hp1 others(2): Show |
a0007 | a0007c0011a0007c0044 | a0007c0011t0001a0007c0044t0001 | a0007c0011t0001g0111 a0007c0011t0001g0112 a0007c0011t0001g0113 others(2): Show |
5 | 210 | 0.0238 | 40 | c.333 others(59): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPHK2_chr19_48614506_48635405 | 48616643 | C | CCAGCACA others(33): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 197 | 0.0051 | 40 | c.-30 others(51): Show |
SPHK2 | ENSG00000063176.16 | transcript | ENST00000245222.9 | protein_coding | 2862 | chr19 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228113603 | A | ATCTCTCT others(33): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18992.hp1 |
a0002a0007 | a0002c0002a0007c0011 | a0002c0002t0001a0007c0011t0001 | a0002c0002t0001g0173 a0007c0011t0001g0202 |
2 | 21 | 0.0952 | 40 | c.139 others(57): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228139910 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01167.hp1 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0005others(5): Show | a0001c0001t0002a0001c0001t0008a0002c0002t0013others(9): Show | a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0218 others(20): Show |
23 | 205 | 0.1122 | 40 | c.33- others(55): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113480912 | T | TAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG01261.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0015others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0033 a0001c0001t0004g0049 a0001c0001t0004g0187 others(18): Show |
21 | 110 | 0.1909 | 40 | c.611 others(57): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47458323 | G | GTATTTTA others(33): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0056 |
2 | 56 | 0.0357 | 40 | c.109 others(61): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88441414 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0044 a0001c0001t0007g0070 |
2 | 108 | 0.0185 | 40 | c.53- others(55): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88441414 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0045 | 1 | 107 | 0.0093 | 40 | c.53- others(55): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88441414 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 107 | 0.0093 | 40 | c.53- others(55): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88441414 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 107 | 0.0093 | 40 | c.53- others(55): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88441414 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG02080.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0051 a0001c0001t0003g0040 |
2 | 108 | 0.0185 | 40 | c.53- others(55): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88441414 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0019 a0001c0001t0004g0011 a0001c0001t0004g0025 |
3 | 109 | 0.0275 | 40 | c.53- others(55): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148210007 | C | CATACACA others(33): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 181 | 0.0055 | 40 | c.82- others(55): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148212649 | T | TATATATT others(33): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0164 |
2 | 436 | 0.0046 | 40 | c.82- others(55): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45728372 | C | CAAAAGCA others(33): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(222): Show |
a0002a0003a0004 | a0002c0002a0002c0004a0003c0003others(1): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0005others(4): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(66): Show |
225 | 455 | 0.4945 | 40 | c.*27 others(51): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2543 | chr20 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12461535 | G | GTACATAT others(33): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004 | a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0049 others(12): Show |
15 | 325 | 0.0462 | 40 | c.163 others(59): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 12/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 138 | 0.0072 | 40 | c.372 others(59): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852391 | C | CCCGTCAT others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01243.hp1 HG01358.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(2): Show | a0001c0001t0001g0291 a0001c0001t0001g0341 a0001c0001t0001g0353 others(4): Show |
7 | 346 | 0.0202 | 40 | c.645 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852441 | T | TCCTCCCT others(33): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 354 | 0.0028 | 40 | c.645 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852469 | C | CCCGTCAT others(33): Show |
intron_variant | MODIFIER | HG03491.hp1 NA18993.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0106 a0001c0001t0001g0143 |
3 | 328 | 0.0091 | 40 | c.645 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852508 | C | CCCGTCAT others(33): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 343 | 0.0029 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852586 | C | CCCGTCAT others(33): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03654.hp2 NA18940.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0052 others(4): Show |
7 | 327 | 0.0214 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852705 | T | TCCATCTT others(33): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG01071.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0063 a0001c0001t0001g0124 a0001c0001t0001g0131 others(16): Show |
19 | 100 | 0.1900 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852705 | T | TCCGTCTT others(33): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 82 | 0.0122 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852761 | C | CCTCTCAC others(33): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 351 | 0.0028 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852825 | C | CCCGTCTT others(33): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0267 | 1 | 352 | 0.0028 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852854 | G | GGATCCCA others(33): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 323 | 0.0031 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852855 | C | CATCCCAT others(33): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 149 | 0.0067 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852855 | C | CATCCCAT others(33): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353 | 1 | 149 | 0.0067 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852861 | A | ATGGCCCG others(33): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0294 others(2): Show |
5 | 351 | 0.0142 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852893 | C | CAGATCCC others(33): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01943.hp1 HG01952.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0013 | a0001c0003t0001g0089 a0001c0003t0001g0137 a0001c0003t0001g0138 others(1): Show |
4 | 352 | 0.0114 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852895 | G | GATCCCAT others(33): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0243 |
2 | 293 | 0.0068 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852908 | G | GTCTTCCA others(33): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 348 | 0.0029 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852935 | C | CATCCCAT others(33): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0171 |
2 | 177 | 0.0113 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852955 | A | ATCCTCCC others(33): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01123.hp2 others(15): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 others(15): Show |
18 | 79 | 0.2278 | 40 | c.646 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19000.hp2 NA19007.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0084 |
3 | 32 | 0.0938 | 40 | c.180 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0315 | 1 | 30 | 0.0333 | 40 | c.180 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18943.hp2 NA19060.hp1 NA19070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0114 others(1): Show |
4 | 33 | 0.1212 | 40 | c.180 others(57): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |