| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PCDHB5_chr5_141130206_141143615 | 141134748 | T | TTGGGTAG others(342): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0000 | 1 | 470 | 0.0021 | 349 | c.-68 others(358): Show |
PCDHB5 | ENSG00000113209.9 | transcript | ENST00000231134.8 | protein_coding | 457 | chr5 | TogoVar | |||||||
| PCDHGA1_chr5_141325514_141517975 | 141333382 | T | TAGAAACG others(342): Show |
intron_variant | MODIFIER | HG01981.hp2 NA19005.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0005a0001c0007t0007 | a0001c0002t0005g0221a0001c0007t0007g0222 | 2 | 268 | 0.0075 | 349 | c.242 others(366): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PDE8A_chr15_84976856_85144142 | 85077899 | C | CAGAAATA others(342): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 344 | 0.0029 | 349 | c.546 others(366): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| PDE8B_chr5_77205680_77433256 | 77420370 | T | TAAAACCT others(342): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 314 | 0.0032 | 349 | c.225 others(366): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PEBP4_chr8_22708251_22932914 | 22922440 | C | CAAGACTA others(342): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 1 | 278 | 0.0036 | 349 | c.132 others(366): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
| PITPNM3_chr17_6446263_6561555 | 6561372 | T | TCCTCCTC others(342): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0011a0001c0007t0084a0002c0004t0004others(1): Show | a0001c0001t0011g0038a0001c0007t0084g0005a0002c0004t0004g0042others(2): Show | 5 | 218 | 0.0229 | 349 | c.-49 others(360): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4818 | chr17 | TogoVar | |||||||
| PKHD1_chr6_51610299_52092613 | 51989901 | G | GAGGAAGG others(342): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 |
a0003 | a0003c0007a0003c0036 | a0003c0007t0001a0003c0036t0001 | a0003c0007t0001g0049a0003c0036t0001g0042 | 2 | 134 | 0.0149 | 349 | c.575 others(370): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
| PKHD1_chr6_51610299_52092613 | 51989903 | G | GGAAGGAA others(342): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 134 | 0.0075 | 349 | c.575 others(370): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
| PKHD1_chr6_51610299_52092613 | 51989903 | G | GGAAGGAA others(342): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0022 | a0022c0042 | a0022c0042t0002 | a0022c0042t0002g0051 | 1 | 134 | 0.0075 | 349 | c.575 others(370): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
| PLEKHA6_chr1_204213853_204364929 | 204269327 | C | CAGAAACC others(342): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0190a0001c0001t0011g0124 | 2 | 270 | 0.0074 | 349 | c.103 others(366): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
| PLXNB2_chr22_50269979_50312646 | 50274865 | C | CTCCAGCC others(342): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0239 | 1 | 302 | 0.0033 | 349 | c.*83 others(358): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 113 | chr22 | TogoVar | |||||||
| PMEPA1_chr20_57643396_57715015 | 57650215 | T | TAAAAAAG others(342): Show |
3_prime_UTR_variant | MODIFIER | NA18963.hp1 NA18973.hp2 NA19066.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0028 | a0001c0001t0020g0091a0001c0001t0020g0093a0001c0002t0028g0023 | 3 | 360 | 0.0083 | 349 | c.*18 others(360): Show |
PMEPA1 | ENSG00000124225.16 | transcript | ENST00000341744.8 | protein_coding | 4/4 | 1837 | chr20 | TogoVar | ||||||
| PPP1R13B_chr14_103728195_103852575 | 103843511 | C | CAAAAAGT others(342): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 332 | 0.0030 | 349 | c.9+3 others(362): Show |
PPP1R13B | ENSG00000088808.18 | transcript | ENST00000202556.14 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
| PRKCE_chr2_45646675_46192990 | 45969045 | T | TAAAATAT others(342): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 168 | 0.0060 | 349 | c.413 others(366): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PRMT3_chr11_20382716_20514338 | 20400659 | T | TAAAAACA others(342): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 380 | 0.0026 | 349 | c.706 others(366): Show |
PRMT3 | ENSG00000185238.13 | transcript | ENST00000331079.11 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| RAI14_chr5_34651328_34837612 | 34717925 | T | TCCAACCC others(342): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0008 | a0008c0025 | a0008c0025t0001 | a0008c0025t0001g0252 | 1 | 254 | 0.0039 | 349 | c.36+ others(366): Show |
RAI14 | ENSG00000039560.14 | transcript | ENST00000265109.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114099769 | G | GCCCCCCC others(342): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 67 | 0.0149 | 349 | c.56- others(366): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RERE_chr1_8347404_8822640 | 8441930 | T | TCAATACA others(342): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03688.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088a0001c0001t0003g0100a0001c0001t0003g0102 | 3 | 204 | 0.0147 | 349 | c.120 others(370): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 11/22 | chr1 | TogoVar | |||||||
| RGS12_chr4_3288021_3444913 | 3341539 | G | GGGGGAGG others(342): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0011 | 1 | 312 | 0.0032 | 349 | c.188 others(368): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RIPOR3_chr20_50581108_50696542 | 50666223 | T | TTTTCTTT others(342): Show |
intron_variant | MODIFIER | HG01081.hp1 NA19010.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0037a0002c0002t0001g0071 | 2 | 280 | 0.0071 | 349 | c.3+2 others(364): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 356477 | A | ACACACAC others(342): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0019 | 1 | 133 | 0.0075 | 349 | c.-39 others(360): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3671 | chr17 | TogoVar | |||||||
| SARDH_chr9_133658560_133743352 | 133668982 | C | CACCCTCC others(342): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0010 | a0002c0010t0004 | a0002c0010t0004g0036 | 1 | 262 | 0.0038 | 349 | c.249 others(368): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
| SCAMP1_chr5_78355617_78485739 | 78430203 | T | TTGTTTAT others(342): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 332 | 0.0030 | 349 | c.632 others(366): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| SCFD1_chr14_30617319_30740850 | 30646401 | T | TTTTAGTT others(342): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 328 | 0.0031 | 349 | c.613 others(366): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| SDK1_chr7_3296252_4274000 | 3977201 | C | CCACGCAG others(342): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0061 | a0001c0061t0031 | a0001c0061t0031g0100 | 1 | 116 | 0.0086 | 349 | c.199 others(368): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
| SGMS1_chr10_50300600_50628956 | 50479037 | A | AACCCTTC others(342): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01257.hp1 HG01257.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0002g0311a0001c0001t0003g0224a0001c0001t0003g0235others(2): Show | 5 | 312 | 0.0160 | 349 | c.-49 others(370): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
| SGMS1_chr10_50300600_50628956 | 50479037 | A | AACCCTTC others(342): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18948.hp2 NA18969.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0205a0001c0001t0003g0206a0001c0001t0003g0208others(5): Show | 8 | 312 | 0.0256 | 349 | c.-49 others(370): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
| SGMS1_chr10_50300600_50628956 | 50479037 | A | AACCCTTC others(342): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 312 | 0.0032 | 349 | c.-49 others(370): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
| SGMS1_chr10_50300600_50628956 | 50479037 | A | AACCCTTC others(342): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251a0001c0001t0002g0252 | 2 | 312 | 0.0064 | 349 | c.-49 others(370): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
| SGMS1_chr10_50300600_50628956 | 50479037 | A | AACCCTTC others(342): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 312 | 0.0032 | 349 | c.-49 others(370): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
| SHANK1_chr19_50654255_50724802 | 50678976 | G | GATGGGGA others(342): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 316 | 0.0032 | 349 | c.257 others(368): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 401331 | A | ACCCCGCC others(342): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 242 | 0.0041 | 349 | c.*45 others(360): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4384 | chr11 | TogoVar | |||||||
| SLC16A3_chr17_82224042_82245086 | 82227685 | C | CACCACCT others(342): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG02970.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0221a0001c0001t0002g0274a0001c0001t0005g0020others(1): Show | 4 | 410 | 0.0098 | 349 | c.-14 others(360): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 1356 | chr17 | TogoVar | |||||||
| SLC17A5_chr6_73588379_73658992 | 73632008 | T | TAAGAATG others(342): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 324 | 0.0031 | 349 | c.819 others(366): Show |
SLC17A5 | ENSG00000119899.13 | transcript | ENST00000355773.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
| SLC1A2_chr11_35246205_35424558 | 35248649 | C | CTAGCGGT others(342): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0208 | 1 | 306 | 0.0033 | 349 | c.*12 others(362): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2555 | chr11 | TogoVar | |||||||
| SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(342): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 222 | 0.0045 | 349 | c.914 others(368): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
| SLC45A1_chr1_8313114_8349165 | 8331445 | A | AAACACTT others(342): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0287 | 1 | 388 | 0.0026 | 349 | c.144 others(366): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SLC7A10_chr19_33203664_33230850 | 33218683 | T | TTCTTTCT others(342): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 410 | 0.0024 | 349 | c.152 others(366): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
| SLCO1B1_chr12_21126194_21244796 | 21205608 | T | TTGGTTTA others(342): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0007 | a0007c0019 | a0007c0019t0002 | a0007c0019t0002g0124 | 1 | 318 | 0.0031 | 349 | c.133 others(366): Show |
SLCO1B1 | ENSG00000134538.3 | transcript | ENST00000256958.3 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| SLCO3A1_chr15_91848708_92170903 | 92143399 | A | ATAATATA others(342): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0095 | 1 | 190 | 0.0053 | 349 | c.151 others(368): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | chr15 | TogoVar | |||||||
| SLIT1_chr10_96993038_97190959 | 97064964 | C | CAAAAGAG others(342): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0046 | 1 | 256 | 0.0039 | 349 | c.486 others(362): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 5/36 | chr10 | TogoVar | |||||||
| SNTB1_chr8_120530756_120817046 | 120625158 | A | AGACCTCA others(342): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 254 | 0.0039 | 349 | c.996 others(366): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 965368 | A | ATCCTCCT others(342): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02976.hp1 |
a0004a0006a0018 | a0004c0004a0006c0009a0018c0023 | a0004c0004t0001a0006c0009t0001a0018c0023t0001 | a0004c0004t0001g0047a0006c0009t0001g0049a0018c0023t0001g0048 | 3 | 190 | 0.0158 | 349 | c.72+ others(366): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SNW1_chr14_77712599_77766156 | 77735601 | T | TGAAAAAT others(342): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 366 | 0.0027 | 349 | c.708 others(364): Show |
SNW1 | ENSG00000100603.14 | transcript | ENST00000261531.12 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| SNX10_chr7_26286862_26379383 | 26311855 | T | TAAGATTT others(342): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0182 | 2 | 390 | 0.0051 | 349 | c.-24 others(368): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SPATA17_chr1_217626344_217876696 | 217740158 | A | AGGCCTTT others(342): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 252 | 0.0040 | 349 | c.396 others(366): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(342): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0101 | 1 | 260 | 0.0039 | 349 | c.138 others(368): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
| SRP54_chr14_34977992_35034567 | 35009343 | G | GCCACACA others(342): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 396 | 0.0025 | 349 | c.485 others(364): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| ST6GALNAC5_chr1_76862480_77072546 | 77003279 | T | TTAAAGTC others(342): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 202 | 0.0050 | 349 | c.262 others(368): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| STPG4_chr2_47081991_47160308 | 47092141 | T | TGCATTTT others(342): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0050 | 1 | 352 | 0.0028 | 349 | c.520 others(366): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar |