| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RFC1_chr4_39282456_39371362 | 39351253 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00673.hp1 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(68): Show | 71 | 276 | 0.2573 | -10 | c.132 others(23): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
| RFC1_chr4_39282456_39371362 | 39354749 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0031 | 1 | 276 | 0.0036 | -10 | c.4-3 others(23): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 1/24 | chr4 | TogoVar | ||||||
| RFC1_chr4_39282456_39371362 | 39355098 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(81): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0009others(3): Show | a0001c0001t0001g0122a0001c0002t0002g0002a0001c0002t0002g0048others(80): Show | 84 | 276 | 0.3044 | -10 | c.4-3 others(23): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 1/24 | chr4 | TogoVar | ||||||
| RFC1_chr4_39282456_39371362 | 39360518 | TTAAAATA others(3): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(139): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(139): Show | 142 | 276 | 0.5145 | -10 | c.3+5 others(23): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 1/24 | chr4 | TogoVar | ||||||
| RFC2_chr7_74226502_74259399 | 74228165 | TAAAAAAA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02970.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0006t0002g0038 | 3 | 326 | 0.0092 | -10 | c.*39 others(21): Show |
RFC2 | ENSG00000049541.11 | transcript | ENST00000055077.8 | protein_coding | 3336 | chr7 | TogoVar | ||||||
| RFC3_chr13_33813149_33842500 | 33815312 | CAGTACAG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp1 others(157): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0063a0001c0001t0001g0078a0001c0001t0001g0183others(88): Show | 160 | 416 | 0.3846 | -10 | c.-28 others(21): Show |
RFC3 | ENSG00000133119.13 | transcript | ENST00000380071.8 | protein_coding | 2836 | chr13 | TogoVar | ||||||
| RFC3_chr13_33813149_33842500 | 33820903 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01167.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0063a0001c0001t0001g0183a0001c0001t0001g0184others(15): Show | 25 | 416 | 0.0601 | -10 | c.88- others(23): Show |
RFC3 | ENSG00000133119.13 | transcript | ENST00000380071.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| RFC4_chr3_186784900_186811482 | 186789702 | AGAAAGCA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 432 | 0.0023 | -10 | c.*25 others(19): Show |
RFC4 | ENSG00000163918.12 | transcript | ENST00000296273.7 | protein_coding | 197 | chr3 | TogoVar | ||||||
| RFC4_chr3_186784900_186811482 | 186809532 | GTGTGTGT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp2 HG03579.hp1 HG06807.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0011a0001c0002t0001g0014a0001c0002t0001g0044others(5): Show | 18 | 432 | 0.0417 | -10 | c.-32 others(21): Show |
RFC4 | ENSG00000163918.12 | transcript | ENST00000296273.7 | protein_coding | 3051 | chr3 | TogoVar | ||||||
| RFFL_chr17_35000990_35068707 | 35055679 | AACAAACA others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG02976.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0022a0001c0001t0078 | a0001c0001t0020g0006a0001c0001t0020g0125a0001c0001t0022g0123others(2): Show | 7 | 372 | 0.0188 | -10 | c.-9+ others(25): Show |
RFFL | ENSG00000092871.17 | transcript | ENST00000394597.7 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
| RFFL_chr17_35000990_35068707 | 35066329 | TGACATTA others(3): Show |
T | upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0117 | 1 | 372 | 0.0027 | -10 | c.-27 others(21): Show |
RFFL | ENSG00000092871.17 | transcript | ENST00000394597.7 | protein_coding | 2623 | chr17 | TogoVar | ||||||
| RFK_chr9_76380526_76399426 | 76383964 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 408 | 0.0025 | -10 | c.*34 others(21): Show |
RFK | ENSG00000135002.12 | transcript | ENST00000376736.6 | protein_coding | 1561 | chr9 | TogoVar | ||||||
| RFPL2_chr22_32185438_32210073 | 32194785 | AATTCATA others(3): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0105 | 1 | 394 | 0.0025 | -10 | c.120 others(25): Show |
RFPL2 | ENSG00000128253.16 | transcript | ENST00000652607.2 | protein_coding | 2/4 | chr22 | TogoVar | ||||||
| RFT1_chr3_53083483_53135435 | 53094351 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(125): Show |
a0001a0003a0004others(2): Show | a0001c0002a0001c0010a0003c0004others(3): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0021others(8): Show | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0006others(97): Show | 128 | 324 | 0.3951 | -10 | c.120 others(29): Show |
RFT1 | ENSG00000163933.10 | transcript | ENST00000296292.8 | protein_coding | 11/12 | chr3 | TogoVar | ||||||
| RFT1_chr3_53083483_53135435 | 53113390 | TAGGATTT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0045a0001c0001t0002g0049a0001c0001t0003g0002others(52): Show | 71 | 324 | 0.2191 | -10 | c.697 others(27): Show |
RFT1 | ENSG00000163933.10 | transcript | ENST00000296292.8 | protein_coding | 6/12 | chr3 | TogoVar | ||||||
| RFT1_chr3_53083483_53135435 | 53120116 | ATTAACTG others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0045a0001c0001t0002g0049a0001c0001t0003g0002others(53): Show | 72 | 324 | 0.2222 | -10 | c.559 others(24): Show |
RFT1 | ENSG00000163933.10 | transcript | ENST00000296292.8 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
| RFT1_chr3_53083483_53135435 | 53132172 | TTTTTCTT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 324 | 0.0031 | -10 | c.-17 others(21): Show |
RFT1 | ENSG00000163933.10 | transcript | ENST00000296292.8 | protein_coding | 1738 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16324646 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0160 | 1 | 268 | 0.0037 | -10 | c.125 others(29): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 8/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16345264 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0229 | 1 | 268 | 0.0037 | -10 | c.114 others(31): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16345817 | TGCGCGCG others(3): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02896.hp2 HG02897.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0104a0002c0003t0004g0105a0002c0003t0004g0106others(2): Show | 5 | 268 | 0.0187 | -10 | c.114 others(31): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16345834 | GCACGCGC others(3): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01169.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0045a0002c0003t0003g0197a0002c0003t0003g0262 | 3 | 268 | 0.0112 | -10 | c.114 others(31): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16369781 | TTTTAAAA others(3): Show |
T | intron_variant | MODIFIER | NA18949.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0031 | 1 | 268 | 0.0037 | -10 | c.103 others(27): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 6/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16387570 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 268 | 0.0037 | -10 | c.442 others(27): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16398244 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02523.hp2 NA18943.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188a0001c0002t0002g0192 | 2 | 268 | 0.0075 | -10 | c.441 others(29): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16410212 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02970.hp1 NA18946.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0089a0001c0001t0001g0224a0001c0002t0002g0010 | 3 | 268 | 0.0112 | -10 | c.333 others(25): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16435917 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0165 | 1 | 268 | 0.0037 | -10 | c.146 others(27): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16445483 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG06807.hp1 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0004 | a0001c0001t0001g0225a0002c0003t0004g0036 | 2 | 268 | 0.0075 | -10 | c.146 others(29): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
| RFTN1_chr3_16310845_16518699 | 16465419 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0240 | 1 | 268 | 0.0037 | -10 | c.145 others(29): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
| RFTN2_chr2_197563224_197680587 | 197625663 | TCTCTCCT others(3): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG02055.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(4): Show | a0001c0001t0003g0011a0001c0001t0003g0044a0001c0001t0003g0045others(17): Show | 20 | 312 | 0.0641 | -10 | c.928 others(27): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 5/8 | chr2 | TogoVar | ||||||
| RFTN2_chr2_197563224_197680587 | 197640687 | CCCGTCTT others(3): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0208 | 1 | 312 | 0.0032 | -10 | c.438 others(27): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| RFWD3_chr16_74616399_74671877 | 74635562 | CGGACTGG others(3): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0174 | 1 | 412 | 0.0024 | -10 | c.142 others(27): Show |
RFWD3 | ENSG00000168411.14 | transcript | ENST00000361070.9 | protein_coding | 8/12 | chr16 | TogoVar | ||||||
| RFX1_chr19_13956530_14011320 | 13970661 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG03130.hp1 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0012a0002c0002a0002c0020 | a0001c0012t0014a0002c0002t0001a0002c0020t0027 | a0001c0012t0014g0265a0001c0012t0014g0266a0002c0002t0001g0263others(1): Show | 4 | 280 | 0.0143 | -10 | c.131 others(27): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 9/20 | chr19 | TogoVar | ||||||
| RFX1_chr19_13956530_14011320 | 13994719 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01978.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0099a0001c0001t0002g0100a0002c0002t0001g0064others(1): Show | 4 | 280 | 0.0143 | -10 | c.-52 others(25): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
| RFX1_chr19_13956530_14011320 | 13994893 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02451.hp2 HG03688.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0053a0001c0001t0001g0056a0002c0002t0001g0035others(3): Show | 6 | 280 | 0.0214 | -10 | c.-52 others(26): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
| RFX1_chr19_13956530_14011320 | 13995851 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02970.hp1 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0013a0002c0002t0010g0015 | 2 | 280 | 0.0071 | -10 | c.-52 others(27): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
| RFX2_chr19_5988164_6115500 | 5990004 | GACCCTAA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(95): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(95): Show | 98 | 308 | 0.3182 | -10 | c.*48 others(21): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 3159 | chr19 | TogoVar | ||||||
| RFX2_chr19_5988164_6115500 | 6031423 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 308 | 0.0033 | -10 | c.523 others(27): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 5/17 | chr19 | TogoVar | ||||||
| RFX2_chr19_5988164_6115500 | 6046605 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0038a0001c0004t0001g0292a0001c0004t0001g0293others(1): Show | 4 | 308 | 0.0130 | -10 | c.90+ others(23): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 2/17 | chr19 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3271543 | CTTTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0061 | 1 | 196 | 0.0051 | -10 | c.108 others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 9/16 | chr9 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3291389 | CAAAAACA others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0024others(6): Show | a0001c0001t0007g0111a0001c0001t0012g0081a0001c0001t0012g0166others(9): Show | 12 | 196 | 0.0612 | -10 | c.731 others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 6/16 | chr9 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3291390 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02083.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0118a0001c0001t0001g0149a0001c0001t0006g0043 | 3 | 196 | 0.0153 | -10 | c.731 others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 6/16 | chr9 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3292061 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0141 | 1 | 196 | 0.0051 | -10 | c.731 others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 6/16 | chr9 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3320768 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01952.hp1 others(16): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0008a0001c0001t0001g0036a0001c0001t0001g0037others(16): Show | 19 | 196 | 0.0969 | -10 | c.474 others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 4/16 | chr9 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3356962 | TGCACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01884.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0026others(4): Show | a0001c0001t0005g0056a0001c0001t0005g0084a0001c0001t0012g0081others(8): Show | 11 | 196 | 0.0561 | -10 | c.118 others(29): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 2/16 | chr9 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3410161 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0002 | 1 | 196 | 0.0051 | -10 | c.-8- others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3415060 | TCATATAT others(3): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG03834.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0118a0001c0001t0001g0172a0001c0001t0027g0109 | 3 | 196 | 0.0153 | -10 | c.-8- others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3457139 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 196 | 0.0051 | -10 | c.-8- others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
| RFX3_chr9_3213297_3531001 | 3524827 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01175.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0087a0001c0001t0002g0017a0001c0001t0002g0019others(22): Show | 25 | 196 | 0.1276 | -10 | c.-9+ others(23): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
| RFX4_chr12_106578004_106767803 | 106584787 | TGATTCCT others(3): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0001g0271others(1): Show | 4 | 296 | 0.0135 | -10 | c.43+ others(25): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RFX4_chr12_106578004_106767803 | 106614477 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02809.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0002t0001g0067 | 3 | 296 | 0.0101 | -10 | c.130 others(27): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |