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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAG16_chr2_213279464_214415501 | 213715222 | G | GTCTGTCT others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 NA19030.hp1 |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0001 | a0002c0002t0001g0054 a0006c0006t0001g0082 |
2 | 86 | 0.0233 | 20 | c.107 others(43): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213715266 | A | ATCTATCT others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0069 |
2 | 86 | 0.0233 | 20 | c.107 others(43): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213754684 | A | ATGAAATC others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(69): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(69): Show |
72 | 86 | 0.8372 | 20 | c.107 others(43): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213976135 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 86 | 0.0116 | 20 | c.140 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213980725 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 86 | 0.0116 | 20 | c.140 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213980725 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 a0002c0002t0001g0077 |
2 | 86 | 0.0233 | 20 | c.140 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213980725 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 86 | 0.0116 | 20 | c.140 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213980725 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 86 | 0.0116 | 20 | c.140 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214062020 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0084 | 1 | 86 | 0.0116 | 20 | c.152 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 214195303 | T | TGATAGAT others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01256.hp1 HG01256.hp2 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 others(27): Show |
30 | 86 | 0.3488 | 20 | c.172 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214288752 | C | CTTATTTA others(13): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 86 | 0.0116 | 20 | c.172 others(43): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214319200 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01256.hp2 HG01516.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0002g0009 others(4): Show |
7 | 86 | 0.0814 | 20 | c.172 others(41): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG17_chr1_117948590_118190228 | 118085529 | T | TGCGTGCG others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 266 | 0.0038 | 20 | c.176 others(37): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 13/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118089332 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01433.hp2 others(15): Show |
a0001a0003a0004others(2): Show | a0001c0004a0001c0027a0003c0003others(3): Show | a0001c0004t0001a0001c0027t0001a0003c0003t0001others(3): Show | a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0224 others(15): Show |
18 | 266 | 0.0677 | 20 | c.135 others(39): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 10/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118111553 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0222 | 1 | 266 | 0.0038 | 20 | c.447 others(37): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 4/48 | chr1 | TogoVar | |||||||
SPAG1_chr8_100153587_100246904 | 100176807 | C | CCCTCTCC others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02683.hp1 HG03927.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0007 | a0001c0002t0001a0001c0008t0008a0002c0007t0001others(1): Show | a0001c0002t0001g0122 a0001c0002t0001g0189 a0001c0008t0008g0246 others(3): Show |
6 | 366 | 0.0164 | 20 | c.301 others(35): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG4_chr20_35610829_35626094 | 35614343 | G | GTTCTAGT others(13): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 320 | 0.0031 | 20 | c.-16 others(31): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 1485 | chr20 | TogoVar | |||||||
SPAG4_chr20_35610829_35626094 | 35615424 | A | AAAAGAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 HG03130.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
3 | 320 | 0.0094 | 20 | c.-58 others(29): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | NA19089.hp2 | a0016 | a0016c0019 | a0016c0019t0001 | a0016c0019t0001g0060 | 1 | 330 | 0.0030 | 20 | c.-18 others(31): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01256.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 |
4 | 330 | 0.0121 | 20 | c.-18 others(31): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03579.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0109 |
3 | 330 | 0.0091 | 20 | c.-18 others(31): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG02895.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 3 | 330 | 0.0091 | 20 | c.-18 others(31): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0100 |
2 | 330 | 0.0061 | 20 | c.-18 others(31): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG6_chr10_22340496_22422610 | 22413687 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0129 | 1 | 142 | 0.0070 | 20 | c.146 others(39): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 10/10 | chr10 | TogoVar | |||||||
SPAG7_chr17_4954226_4972817 | 4965826 | G | GTTTATTT others(13): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 424 | 0.0024 | 20 | c.85+ others(35): Show |
SPAG7 | ENSG00000091640.8 | transcript | ENST00000206020.8 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
SPAG7_chr17_4954226_4972817 | 4965826 | G | GTTTGTTT others(13): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 424 | 0.0024 | 20 | c.85+ others(35): Show |
SPAG7 | ENSG00000091640.8 | transcript | ENST00000206020.8 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51053855 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 292 | 0.0034 | 20 | c.495 others(37): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51077021 | T | TCTAGCTA others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0266 a0001c0002t0001g0274 a0001c0002t0001g0283 |
3 | 292 | 0.0103 | 20 | c.424 others(37): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51083543 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0001 | 1 | 292 | 0.0034 | 20 | c.304 others(37): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51106102 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 292 | 0.0034 | 20 | c.303 others(39): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPANXB1_chrX_140997594_141008706 | 141001517 | T | TATGTGCT others(13): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0011 | a0011c0006 | a0011c0006t0006 | a0011c0006t0006g0010 | 1 | 301 | 0.0033 | 20 | c.-11 others(31): Show |
SPANXB1 | ENSG00000227234.2 | transcript | ENST00000449283.2 | protein_coding | 1076 | chrX | TogoVar | |||||||
SPANXD_chrX_141692411_141703739 | 141692796 | C | CCCTCCCT others(13): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0004 | a0004c0004 | a0004c0004t0022 | a0004c0004t0022g0059 | 1 | 334 | 0.0030 | 20 | c.*46 others(31): Show |
SPANXD | ENSG00000196406.4 | transcript | ENST00000370515.3 | protein_coding | 4614 | chrX | TogoVar | |||||||
SPANXD_chrX_141692411_141703739 | 141692796 | C | CCTTCCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 HG02015.hp1 NA18959.hp1 others(3): Show |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0001c0001t0003a0009c0011t0015 | a0001c0001t0001g0001 a0001c0001t0003g0004 a0009c0011t0015g0038 |
6 | 334 | 0.0180 | 20 | c.*46 others(31): Show |
SPANXD | ENSG00000196406.4 | transcript | ENST00000370515.3 | protein_coding | 4614 | chrX | TogoVar | |||||||
SPANXN1_chrX_145242503_145261208 | 145260654 | C | CTCTCTCT others(13): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0043 | 1 | 334 | 0.0030 | 20 | c.*48 others(31): Show |
SPANXN1 | ENSG00000203923.5 | transcript | ENST00000370493.4 | protein_coding | 4447 | chrX | TogoVar | |||||||
SPANXN1_chrX_145242503_145261208 | 145260654 | C | CTCTCTCT others(13): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0096 | 1 | 334 | 0.0030 | 20 | c.*48 others(31): Show |
SPANXN1 | ENSG00000203923.5 | transcript | ENST00000370493.4 | protein_coding | 4447 | chrX | TogoVar | |||||||
SPANXN1_chrX_145242503_145261208 | 145260654 | C | CTCTCTCT others(13): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 HG03669.hp2 NA18972.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 a0001c0002t0002g0023 a0001c0002t0002g0088 others(1): Show |
8 | 334 | 0.0240 | 20 | c.*48 others(31): Show |
SPANXN1 | ENSG00000203923.5 | transcript | ENST00000370493.4 | protein_coding | 4447 | chrX | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151685422 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0294 | 1 | 442 | 0.0023 | 20 | c.-14 others(37): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32083768 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 342 | 0.0029 | 20 | c.416 others(37): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32089218 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03669.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067 |
3 | 342 | 0.0088 | 20 | c.503 others(35): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 2/16 | chr2 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24238158 | A | ACAGACTC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(111): Show | a0001c0001t0002g0082 a0001c0001t0002g0119 a0001c0001t0002g0132 others(184): Show |
187 | 356 | 0.5253 | 20 | c.165 others(41): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24278970 | T | TTCCCTCC others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0002 | 1 | 356 | 0.0028 | 20 | c.216 others(39): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24278992 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0029 | a0001c0029t0086 | a0001c0029t0086g0209 | 1 | 356 | 0.0028 | 20 | c.216 others(39): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24309283 | T | TTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 HG06807.hp1 NA18946.hp2 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0016 | a0001c0001t0015a0001c0001t0028a0001c0002t0001others(2): Show | a0001c0001t0015g0250 a0001c0001t0028g0011 a0001c0002t0001g0181 others(2): Show |
5 | 356 | 0.0140 | 20 | c.*65 others(31): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2215 | chr13 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172961069 | T | TCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03017.hp1 HG03017.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0056 a0001c0001t0001g0194 a0002c0002t0001g0121 |
3 | 200 | 0.0150 | 20 | c.934 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172961069 | T | TCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139 a0002c0002t0001g0141 |
2 | 200 | 0.0100 | 20 | c.934 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173027974 | T | TCTCCCTC others(13): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0077 | 1 | 200 | 0.0050 | 20 | c.759 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173028013 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18971.hp2 NA18995.hp1 others(1): Show |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0001a0010c0011t0003 | a0001c0001t0001g0078 a0001c0001t0001g0189 a0001c0001t0001g0192 others(1): Show |
4 | 200 | 0.0200 | 20 | c.759 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173028013 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0041 a0003c0003t0001g0174 |
2 | 200 | 0.0100 | 20 | c.759 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173028015 | C | CTCCCTCC others(13): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG01934.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0094 others(3): Show |
6 | 200 | 0.0300 | 20 | c.759 others(37): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217712128 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0009 | a0001c0009t0019 | a0001c0009t0019g0092 | 1 | 252 | 0.0040 | 20 | c.395 others(39): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |