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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNX27_chr1_151607050_151704080 | 151681235 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 119 | 0.0084 | 35 | c.115 others(54): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12381090 | A | ACCACCCA others(28): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0008 | a0003c0008t0011 | a0003c0008t0011g0145 | 1 | 153 | 0.0065 | 35 | c.190 others(56): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12381090 | A | ACCCACCA others(28): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(18): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0048others(17): Show | a0001c0001t0002g0065 a0001c0001t0009g0137 a0001c0001t0048g0140 others(18): Show |
21 | 173 | 0.1214 | 35 | c.190 others(56): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12476383 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 117 | 0.0085 | 35 | c.203 others(54): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | chr16 | TogoVar | |||||||
SNX2_chr5_122770080_122839543 | 122772950 | T | TAAAAAAA others(28): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 370 | 0.0027 | 35 | c.-21 others(46): Show |
SNX2 | ENSG00000205302.7 | transcript | ENST00000379516.7 | protein_coding | 2129 | chr5 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125519948 | G | GGCCCGGC others(28): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 a0001c0001t0002g0144 |
2 | 193 | 0.0104 | 35 | c.141 others(48): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125519948 | G | GGCCCGGC others(28): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01099.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0001g0150 others(15): Show |
19 | 210 | 0.0905 | 35 | c.141 others(48): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763441 | A | ATATATAT others(28): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 312 | 0.0032 | 35 | c.*33 others(46): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2942 | chr1 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763443 | A | ATATATAT others(28): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0102 |
2 | 235 | 0.0085 | 35 | c.*33 others(46): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2944 | chr1 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(28): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 223 | 0.0045 | 35 | c.12+ others(52): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18963.hp2 NA18999.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0057 |
3 | 225 | 0.0133 | 35 | c.12+ others(52): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(28): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0023 | 1 | 223 | 0.0045 | 35 | c.12+ others(52): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018 | 1 | 191 | 0.0052 | 35 | c.949 others(52): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG01358.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0021 others(3): Show |
6 | 196 | 0.0306 | 35 | c.949 others(52): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03688.hp1 NA19063.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 a0002c0002t0002g0023 a0002c0002t0002g0024 others(2): Show |
5 | 195 | 0.0256 | 35 | c.949 others(52): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02965.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0002 | a0001c0003t0003g0258 a0002c0002t0002g0057 |
2 | 192 | 0.0104 | 35 | c.949 others(52): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOCS3_chr17_78351778_78365077 | 78364744 | C | CGGGTGTC others(28): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 | 1 | 466 | 0.0021 | 35 | c.-50 others(46): Show |
SOCS3 | ENSG00000184557.4 | transcript | ENST00000330871.3 | protein_coding | 4668 | chr17 | TogoVar | |||||||
SOHLH2_chr13_36163217_36219556 | 36184460 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02976.hp1 NA19043.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0036 a0001c0004t0002g0242 |
3 | 55 | 0.0545 | 35 | c.641 others(52): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0121 | 1 | 31 | 0.0323 | 35 | c.481 others(54): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0009 | a0001c0009t0037 | a0001c0009t0037g0042 | 1 | 31 | 0.0323 | 35 | c.481 others(54): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02148.hp1 NA19240.hp1 |
a0001a0011 | a0001c0014a0011c0023 | a0001c0014t0016a0011c0023t0009 | a0001c0014t0016g0139 a0011c0023t0009g0122 |
2 | 32 | 0.0625 | 35 | c.481 others(54): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0004 | a0002c0004t0022 | a0002c0004t0022g0057 | 1 | 31 | 0.0323 | 35 | c.481 others(54): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104696573 | A | ATAATATA others(28): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02622.hp1 HG03098.hp1 others(2): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0122 a0001c0001t0002g0123 a0001c0002t0003g0128 others(2): Show |
5 | 91 | 0.0549 | 35 | c.627 others(54): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | chr10 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 105016155 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 a0001c0001t0004g0039 |
2 | 67 | 0.0299 | 35 | c.955 others(54): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105064687 | T | TTGGGGAA others(28): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01167.hp1 |
a0001a0008 | a0001c0002a0008c0014 | a0001c0002t0008a0008c0014t0001 | a0001c0002t0008g0013 a0008c0014t0001g0015 |
2 | 134 | 0.0149 | 35 | c.102 others(56): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23530819 | G | GTGTGTGT others(28): Show |
3_prime_UTR_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0052 | 1 | 210 | 0.0048 | 35 | c.*33 others(46): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3399 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23603445 | A | AATATATA others(28): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01934.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0063 | a0001c0001t0010g0003 a0001c0001t0010g0038 a0001c0001t0010g0184 others(1): Show |
4 | 91 | 0.0440 | 35 | c.116 others(52): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230497488 | G | GGAGGAGA others(28): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0277 | 1 | 202 | 0.0050 | 35 | c.164 others(52): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497539 | G | GAGGAAAG others(28): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0185 | 1 | 226 | 0.0044 | 35 | c.164 others(52): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497544 | G | GAGGAAAG others(28): Show |
intron_variant | MODIFIER | HG02129.hp2 HG03942.hp1 |
a0004 | a0004c0006a0004c0015 | a0004c0006t0004a0004c0015t0004 | a0004c0006t0004g0282 a0004c0015t0004g0154 |
2 | 144 | 0.0139 | 35 | c.164 others(52): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP3_chr2_173895775_173970373 | 173939764 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0106 | 1 | 18 | 0.0556 | 35 | c.163 others(56): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SPA17_chr11_124668904_124702518 | 124702108 | G | GCCACCTC others(28): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0065 | 1 | 354 | 0.0028 | 35 | c.*76 others(46): Show |
SPA17 | ENSG00000064199.7 | transcript | ENST00000227135.7 | protein_coding | 4591 | chr11 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213419058 | A | ATTCTCTA others(28): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02015.hp1 HG02922.hp1 others(4): Show |
a0001a0007a0009others(2): Show | a0001c0001a0007c0007a0009c0008others(2): Show | a0001c0001t0001a0007c0007t0001a0009c0008t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(4): Show |
7 | 86 | 0.0814 | 35 | c.942 others(54): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213833465 | T | TTATAATA others(28): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01256.hp2 HG01361.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 others(3): Show |
6 | 57 | 0.1053 | 35 | c.107 others(56): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG1_chr8_100153587_100246904 | 100168687 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0072 | 1 | 112 | 0.0089 | 35 | c.300 others(52): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG4_chr20_35610829_35626094 | 35615424 | A | AAAGAAAG others(28): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 35 | c.-58 others(44): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(28): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 136 | 0.0074 | 35 | c.-18 others(46): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(28): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 NA18953.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0076 |
3 | 138 | 0.0217 | 35 | c.-18 others(46): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAT others(28): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 136 | 0.0074 | 35 | c.-18 others(46): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 136 | 0.0074 | 35 | c.-18 others(46): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51037665 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 158 | 0.0063 | 35 | c.741 others(52): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 5/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51037691 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02071.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0225 a0001c0001t0001g0266 a0001c0001t0002g0204 others(1): Show |
4 | 240 | 0.0167 | 35 | c.741 others(52): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 5/29 | chr17 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24189683 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01109.hp1 others(28): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0028others(27): Show | a0001c0001t0003g0024 a0001c0001t0022g0257 a0001c0001t0028g0011 others(28): Show |
31 | 341 | 0.0909 | 35 | c.-11 others(56): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190154 | T | TATAATGA others(28): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18986.hp2 |
a0001a0022 | a0001c0001a0022c0051 | a0001c0001t0006a0022c0051t0018 | a0001c0001t0006g0313 a0022c0051t0018g0311 |
2 | 55 | 0.0364 | 35 | c.-11 others(56): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 135 | 0.0074 | 35 | c.39+ others(50): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPC24_chr19_11140493_11160782 | 11146465 | T | TAAAAAAA others(28): Show |
3_prime_UTR_variant | MODIFIER | HG01361.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0104a0001c0001t0146 | a0001c0001t0104g0240 a0001c0001t0146g0077 |
2 | 77 | 0.0260 | 35 | c.*71 others(44): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 5/5 | 717 | chr19 | TogoVar | ||||||
SPDYE1_chr7_43992897_44015124 | 43995866 | G | GTGTGTGT others(28): Show |
upstream_gene_variant | MODIFIER | NA18978.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0013 | 1 | 392 | 0.0026 | 35 | c.-25 others(46): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 2030 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | A | ATTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 5 | 0.2000 | 35 | c.308 others(56): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20021702 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0004 | a0004c0005 | a0004c0005t0024 | a0004c0005t0024g0227 | 1 | 38 | 0.0263 | 35 | c.-22 others(54): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20021702 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19068.hp1 |
a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0234 a0004c0005t0008g0237 |
2 | 39 | 0.0513 | 35 | c.-22 others(54): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |