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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
QSOX2_chr9_136201333_136250812 | 136220606 | GCCTCACG others(10): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(211): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0034 a0001c0001t0001g0208 a0001c0001t0001g0210 others(163): Show |
214 | 390 | 0.5487 | -17 | c.821 others(34): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
QTRT2_chr3_114051737_114093422 | 114060529 | TAGATAGA others(10): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02074.hp1 HG02155.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 others(1): Show |
4 | 428 | 0.0093 | -17 | c.-22 others(34): Show |
QTRT2 | ENSG00000151576.10 | transcript | ENST00000281273.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
R3HCC1L_chr10_98129657_98249897 | 98219719 | CTTATCTG others(10): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0018 | a0018c0019 | a0018c0019t0003 | a0018c0019t0003g0029 | 1 | 386 | 0.0026 | -17 | c.178 others(36): Show |
R3HCC1L | ENSG00000166024.14 | transcript | ENST00000298999.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135727442 | CTTTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03688.hp2 NA19083.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0153 a0003c0003t0001g0021 |
2 | 3 | 0.6667 | -17 | c.*31 others(28): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 2174 | chr2 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57404194 | AGCTGCGA others(10): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 |
3 | 334 | 0.0090 | -17 | c.-10 others(36): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 1/23 | chr12 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 892907 | CGCGCCCC others(10): Show |
C | downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 430 | 0.0023 | -17 | c.*45 others(28): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 3595 | chr19 | TogoVar | |||||||
RAB10_chr2_26029084_26142454 | 26140452 | CTTTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | NA18965.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0169 a0001c0001t0002g0120 |
2 | 3 | 0.6667 | -17 | c.*54 others(28): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 2999 | chr2 | TogoVar | |||||||
RAB11FIP1_chr8_37853618_37904497 | 37895247 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0054 | 1 | 262 | 0.0038 | -17 | c.371 others(34): Show |
RAB11FIP1 | ENSG00000156675.16 | transcript | ENST00000330843.9 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
RAB11FIP2_chr10_117999916_118051941 | 118033025 | CTTACTGT others(10): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 398 | 0.0025 | -17 | c.126 others(36): Show |
RAB11FIP2 | ENSG00000107560.12 | transcript | ENST00000355624.8 | protein_coding | 3/4 | chr10 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 437865 | TCATTCTT others(10): Show |
T | intron_variant | MODIFIER | NA18942.hp2 NA18964.hp2 NA18990.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 others(3): Show |
6 | 294 | 0.0204 | -17 | c.714 others(36): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 451066 | CTGTTTTC others(10): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 294 | 0.0034 | -17 | c.715 others(36): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 462613 | GATCCCTT others(10): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02717.hp2 HG03471.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0018 | a0001c0001t0011a0001c0002t0009a0001c0002t0026others(1): Show | a0001c0001t0011g0262 a0001c0001t0011g0263 a0001c0001t0011g0264 others(6): Show |
9 | 294 | 0.0306 | -17 | c.808 others(34): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 462659 | AGCACCGT others(10): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0021a0001c0006t0033 | a0001c0001t0021g0001 a0001c0006t0033g0201 |
3 | 294 | 0.0102 | -17 | c.808 others(34): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 462825 | GATCCCTT others(10): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0037 | 1 | 294 | 0.0034 | -17 | c.808 others(34): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 462869 | TCAGCACA others(10): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03041.hp1 |
a0001 | a0001c0006a0001c0008 | a0001c0006t0059a0001c0008t0058 | a0001c0006t0059g0111 a0001c0008t0058g0113 |
2 | 294 | 0.0068 | -17 | c.808 others(34): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504567 | ACCCCTCA others(10): Show |
A | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 293 | 0.0034 | -17 | c.139 others(34): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504810 | CCTCCTGT others(10): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0097 | 1 | 294 | 0.0034 | -17 | c.139 others(34): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445564 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 304 | 0.0033 | -17 | c.336 others(36): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445566 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 307 | 0.0033 | -17 | c.336 others(36): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB12_chr18_8604437_8644383 | 8639147 | CTTTTTTT others(10): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02004.hp2 NA18943.hp2 NA18963.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 |
4 | 51 | 0.0784 | -17 | c.*91 others(26): Show |
RAB12 | ENSG00000206418.5 | transcript | ENST00000649141.2 | protein_coding | 6/6 | 914 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 82 | 0.0122 | -17 | c.119 others(34): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9712726 | GTGCGTGC others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0026 others(293): Show |
297 | 320 | 0.9281 | -17 | c.39+ others(32): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9719285 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 | 1 | 319 | 0.0031 | -17 | c.39+ others(34): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9719291 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0125 | 1 | 319 | 0.0031 | -17 | c.39+ others(34): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB34_chr17_28709284_28722868 | 28711396 | CCCCCGGC others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(3): Show |
60 | 344 | 0.1744 | -17 | c.*32 others(28): Show |
RAB34 | ENSG00000109113.20 | transcript | ENST00000395245.9 | protein_coding | 2887 | chr17 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58699260 | CTGCAGAA others(10): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01071.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0048 a0001c0001t0001g0089 a0001c0001t0001g0150 others(23): Show |
26 | 218 | 0.1193 | -17 | c.253 others(36): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58797350 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0077 | a0001c0001t0010g0187 a0001c0001t0077g0215 |
2 | 218 | 0.0092 | -17 | c.372 others(36): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58797353 | AATATGTA others(10): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp2 HG01168.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0073 a0001c0001t0003g0020 a0001c0001t0003g0036 others(8): Show |
11 | 172 | 0.0640 | -17 | c.372 others(36): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58813593 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01978.hp1 HG02280.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0057a0001c0001t0058 | a0001c0001t0022g0080 a0001c0001t0057g0194 a0001c0001t0058g0210 |
3 | 159 | 0.0189 | -17 | c.372 others(36): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
RAB44_chr6_36692826_36738184 | 36702321 | AGAGAGAG others(10): Show |
A | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 426 | 0.0023 | -17 | c.-12 others(34): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
RAB44_chr6_36692826_36738184 | 36734360 | AGAGAGAG others(10): Show |
A | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0004 | 1 | 421 | 0.0024 | -17 | c.*22 others(28): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1177 | chr6 | TogoVar | |||||||
RAB4A_chr1_229266111_229310894 | 229302293 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 393 | 0.0025 | -17 | c.542 others(32): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB5A_chr3_19942097_19990175 | 19989672 | TGGAATTG others(10): Show |
T | downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 | 1 | 346 | 0.0029 | -17 | c.*58 others(28): Show |
RAB5A | ENSG00000144566.11 | transcript | ENST00000273047.9 | protein_coding | 4498 | chr3 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42126631 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 116 | 0.0086 | -17 | c.535 others(32): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 5/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42140507 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0122 a0001c0001t0001g0136 others(4): Show |
7 | 288 | 0.0243 | -17 | c.-88 others(34): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42140509 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02922.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0194 a0001c0001t0001g0224 |
3 | 300 | 0.0100 | -17 | c.-88 others(34): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB5C_chr17_42119979_42159989 | 42144925 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 5 | 0.2000 | -17 | c.-89 others(34): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73722329 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 339 | 0.0029 | -17 | c.130 others(34): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73744511 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00609.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 others(30): Show |
33 | 41 | 0.8049 | -17 | c.71- others(34): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB7A_chr3_128721183_128819798 | 128809936 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00673.hp2 NA18950.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0051 |
3 | 42 | 0.0714 | -17 | c.528 others(34): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB8B_chr15_63184606_63272776 | 63263403 | TGAATACA others(10): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(86): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0192 a0001c0001t0002g0288 a0001c0001t0003g0068 others(78): Show |
89 | 370 | 0.2405 | -17 | c.532 others(31): Show |
RAB8B | ENSG00000166128.13 | transcript | ENST00000321437.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RABEP1_chr17_5277284_5391340 | 5282101 | GCTCCCTC others(10): Show |
G | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0300 | 1 | 350 | 0.0029 | -17 | c.-38 others(26): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 182 | chr17 | TogoVar | |||||||
RABEP1_chr17_5277284_5391340 | 5294633 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00673.hp1 others(19): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0004others(3): Show | a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 others(19): Show |
22 | 161 | 0.1366 | -17 | c.34+ others(34): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RABEPK_chr9_125195542_125239161 | 125223313 | CCTGCCTG others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(264): Show |
295 | 386 | 0.7642 | -17 | c.526 others(34): Show |
RABEPK | ENSG00000136933.17 | transcript | ENST00000373538.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174195637 | CTTCCTTC others(10): Show |
C | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0192 | 1 | 269 | 0.0037 | -17 | c.-33 others(36): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174223264 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(9): Show |
a0002 | a0002c0003 | a0002c0003t0006a0002c0003t0015a0002c0003t0025others(1): Show | a0002c0003t0006g0074 a0002c0003t0006g0075 a0002c0003t0006g0077 others(9): Show |
12 | 20 | 0.6000 | -17 | c.331 others(34): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174364243 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0138 | 1 | 91 | 0.0110 | -17 | c.146 others(36): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174763650 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0250 | 1 | 44 | 0.0227 | -17 | c.221 others(38): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174854715 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0034 a0001c0001t0005g0138 a0001c0001t0005g0141 others(4): Show |
7 | 10 | 0.7000 | -17 | c.234 others(38): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1_chr9_122936020_123109866 | 122990797 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0052 | 1 | 180 | 0.0056 | -17 | c.923 others(32): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 6/25 | chr9 | TogoVar |