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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
REEP5_chr5_112871385_112927227 | 112897350 | ATCACACA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0002g0228 a0001c0001t0004g0002 a0001c0001t0004g0166 others(50): Show |
62 | 340 | 0.1824 | -8 | c.351 others(25): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
REG1A_chr2_79115488_79128409 | 79119187 | GATATATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG02080.hp1 HG02280.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(3): Show |
28 | 452 | 0.0620 | -8 | c.-13 others(19): Show |
REG1A | ENSG00000115386.6 | transcript | ENST00000233735.2 | protein_coding | 1300 | chr2 | TogoVar | |||||||
REG4_chr1_119789017_119816460 | 119799409 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0171 others(87): Show |
136 | 462 | 0.2944 | -8 | c.303 others(23): Show |
REG4 | ENSG00000134193.15 | transcript | ENST00000256585.10 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
RELB_chr19_44996464_45043192 | 45011797 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00735.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0104 others(31): Show |
34 | 382 | 0.0890 | -8 | c.164 others(23): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45016850 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0125 a0001c0001t0001g0330 |
3 | 382 | 0.0079 | -8 | c.504 others(25): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELCH_chr18_62182255_62315249 | 62267484 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp2 others(45): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0007 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0003g0003 a0001c0001t0003g0050 a0001c0001t0003g0076 others(44): Show |
48 | 340 | 0.1412 | -8 | c.268 others(25): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RELL1_chr4_37605634_37691376 | 37633408 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0117 a0001c0001t0001g0172 others(11): Show |
14 | 324 | 0.0432 | -8 | c.680 others(25): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37644438 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0144 a0001c0001t0018g0002 a0001c0001t0018g0025 |
4 | 324 | 0.0124 | -8 | c.385 others(25): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 3/6 | chr4 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103489203 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG02523.hp2 HG02735.hp2 others(7): Show |
a0001a0002 | a0001c0006a0002c0021 | a0001c0006t0001a0001c0006t0002a0001c0006t0003others(1): Show | a0001c0006t0001g0047 a0001c0006t0001g0082 a0001c0006t0001g0087 others(7): Show |
10 | 184 | 0.0544 | -8 | c.976 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 60/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103498820 | AAGTTAGT others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02615.hp2 others(11): Show |
a0001a0005a0008others(5): Show | a0001c0025a0001c0041a0001c0047others(9): Show | a0001c0025t0001a0001c0041t0016a0001c0047t0002others(9): Show | a0001c0025t0001g0058 a0001c0025t0001g0072 a0001c0041t0016g0035 others(11): Show |
14 | 184 | 0.0761 | -8 | c.866 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 53/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103544220 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp2 others(20): Show |
a0001a0002a0016 | a0001c0002a0001c0011a0001c0022others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 others(20): Show |
23 | 184 | 0.1250 | -8 | c.652 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 42/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103590562 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(120): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0003others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(81): Show | a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0111 others(120): Show |
123 | 184 | 0.6685 | -8 | c.391 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 27/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103599504 | GCTGAACA others(1): Show |
G | intron_variant | MODIFIER | HG02735.hp2 NA18952.hp1 NA18957.hp2 others(1): Show |
a0001a0003a0007 | a0001c0006a0003c0028a0007c0012 | a0001c0006t0001a0003c0028t0001a0007c0012t0002 | a0001c0006t0001g0082 a0003c0028t0001g0095 a0003c0028t0001g0146 others(1): Show |
4 | 184 | 0.0217 | -8 | c.333 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 24/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103665360 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0025others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0002others(2): Show | a0001c0001t0001g0129 a0001c0001t0004g0160 a0001c0005t0002g0009 others(3): Show |
6 | 184 | 0.0326 | -8 | c.129 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 11/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103665362 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp1 |
a0004a0018 | a0004c0063a0018c0068 | a0004c0063t0001a0018c0068t0001 | a0004c0063t0001g0147 a0018c0068t0001g0108 |
2 | 184 | 0.0109 | -8 | c.129 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 11/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103712271 | AAGTTTCT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp1 others(33): Show |
a0001a0003a0007others(7): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(22): Show | a0001c0001t0001g0084 a0001c0001t0001g0111 a0001c0002t0001g0085 others(33): Show |
36 | 184 | 0.1957 | -8 | c.805 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 8/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103741662 | AAAGGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp1 others(81): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(62): Show | a0001c0001t0001g0084 a0001c0001t0001g0130 a0001c0002t0001g0085 others(81): Show |
84 | 184 | 0.4565 | -8 | c.656 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 6/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103772312 | AAATGAAT others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02615.hp1 others(12): Show |
a0001a0013a0018others(2): Show | a0001c0001a0001c0005a0001c0020others(9): Show | a0001c0001t0013a0001c0005t0007a0001c0020t0001others(11): Show | a0001c0001t0013g0164 a0001c0005t0007g0109 a0001c0005t0007g0118 others(12): Show |
15 | 184 | 0.0815 | -8 | c.544 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 4/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103773100 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG02083.hp1 HG02559.hp1 HG02683.hp1 others(6): Show |
a0001a0003a0017 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0129 a0001c0001t0004g0160 a0001c0002t0002g0015 others(6): Show |
9 | 184 | 0.0489 | -8 | c.544 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 4/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103824627 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp2 others(10): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(10): Show | a0001c0001t0001g0066 a0001c0001t0002g0030 a0001c0002t0003g0167 others(10): Show |
13 | 184 | 0.0707 | -8 | c.473 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103826167 | CATGTTAT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp2 others(47): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(38): Show | a0001c0001t0001g0066 a0001c0001t0001g0111 a0001c0001t0001g0129 others(47): Show |
50 | 184 | 0.2717 | -8 | c.473 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103862409 | TTCTATCT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01255.hp2 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0066 a0001c0002t0001g0041 a0001c0002t0001g0083 others(8): Show |
11 | 184 | 0.0598 | -8 | c.338 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103872044 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp2 others(35): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(26): Show | a0001c0001t0001g0090 a0001c0001t0003g0169 a0001c0001t0003g0170 others(35): Show |
38 | 184 | 0.2065 | -8 | c.338 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103924985 | TACACATA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01192.hp1 HG02071.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(15): Show | a0001c0001t0001g0073 a0001c0002t0001g0085 a0001c0002t0001g0086 others(18): Show |
21 | 184 | 0.1141 | -8 | c.227 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103924991 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03579.hp2 NA18522.hp2 |
a0001a0002a0027 | a0001c0003a0002c0010a0027c0053 | a0001c0003t0001a0002c0010t0009a0027c0053t0002 | a0001c0003t0001g0124 a0002c0010t0009g0184 a0027c0053t0002g0021 |
3 | 184 | 0.0163 | -8 | c.227 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103930868 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02132.hp1 |
a0001 | a0001c0003a0001c0019 | a0001c0003t0002a0001c0019t0001 | a0001c0003t0002g0012 a0001c0019t0001g0069 |
2 | 184 | 0.0109 | -8 | c.227 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103936743 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02922.hp2 NA20129.hp1 |
a0001a0004a0005 | a0001c0005a0004c0063a0005c0081 | a0001c0005t0002a0004c0063t0001a0005c0081t0001 | a0001c0005t0002g0009 a0004c0063t0001g0147 a0005c0081t0001g0153 |
3 | 184 | 0.0163 | -8 | c.227 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103962646 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 HG03471.hp1 others(1): Show |
a0004a0008a0022 | a0004c0017a0008c0026a0022c0033 | a0004c0017t0001a0008c0026t0006a0022c0033t0001 | a0004c0017t0001g0122 a0008c0026t0006g0039 a0008c0026t0006g0040 others(1): Show |
4 | 184 | 0.0217 | -8 | c.226 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103974485 | TATTTCTA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(123): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0003others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0090 others(123): Show |
126 | 184 | 0.6848 | -8 | c.226 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103986930 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(38): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0003a0001c0001t0013a0001c0002t0005others(33): Show | a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0013g0164 others(38): Show |
41 | 184 | 0.2228 | -8 | c.226 others(25): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
REL_chr2_60876574_60936612 | 60919411 | GGTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0036 | a0001c0001t0020g0113 a0001c0001t0020g0114 a0001c0001t0036g0179 |
3 | 276 | 0.0109 | -8 | c.854 others(23): Show |
REL | ENSG00000162924.16 | transcript | ENST00000394479.4 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
REM1_chr20_31470288_31489895 | 31480188 | AAGATAGA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG01255.hp2 others(18): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0002c0002t0003a0002c0003t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0037 others(9): Show |
21 | 344 | 0.0611 | -8 | c.424 others(25): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
REM1_chr20_31470288_31489895 | 31480240 | TACATACA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01123.hp1 others(13): Show |
a0002a0010 | a0002c0002a0010c0011 | a0002c0002t0001a0002c0002t0003a0010c0011t0003 | a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0043 others(7): Show |
16 | 344 | 0.0465 | -8 | c.424 others(25): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
REM1_chr20_31470288_31489895 | 31486407 | CAGAGAGA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(23): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show |
26 | 344 | 0.0756 | -8 | c.*19 others(19): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 1513 | chr20 | TogoVar | |||||||
REM2_chr14_22878222_22892678 | 22888841 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01255.hp1 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0030 |
6 | 392 | 0.0153 | -8 | c.*19 others(19): Show |
REM2 | ENSG00000139890.10 | transcript | ENST00000267396.9 | protein_coding | 1164 | chr14 | TogoVar | |||||||
RENBP_chrX_153930269_153949643 | 153937197 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01361.hp1 others(13): Show |
a0000a0001 | a0000c0007a0001c0001 | a0000c0007t0001a0001c0001t0001 | a0000c0007t0001g0174 a0001c0001t0001g0014 a0001c0001t0001g0019 others(7): Show |
16 | 297 | 0.0539 | -8 | c.107 others(27): Show |
RENBP | ENSG00000102032.13 | transcript | ENST00000393700.8 | protein_coding | 9/10 | chrX | TogoVar | |||||||
RENBP_chrX_153930269_153949643 | 153938788 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | NA19077.hp1 | a0017 | a0017c0012 | a0017c0012t0001 | a0017c0012t0001g0169 | 1 | 297 | 0.0034 | -8 | c.107 others(27): Show |
RENBP | ENSG00000102032.13 | transcript | ENST00000393700.8 | protein_coding | 9/10 | chrX | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138921976 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00738.hp2 others(83): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0003g0324 a0001c0002t0002g0001 a0001c0002t0002g0116 others(82): Show |
86 | 390 | 0.2205 | -8 | c.133 others(25): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 10/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138947035 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0129 a0001c0001t0001g0210 a0001c0001t0002g0042 others(64): Show |
67 | 390 | 0.1718 | -8 | c.277 others(23): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 2/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138969269 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00738.hp2 others(71): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0001t0003g0324 a0001c0002t0002g0001 a0001c0002t0002g0116 others(70): Show |
74 | 390 | 0.1897 | -8 | c.153 others(27): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138992178 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00738.hp2 others(59): Show |
a0001a0003a0012 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0005others(5): Show | a0001c0001t0001g0129 a0001c0002t0003g0318 a0001c0002t0003g0319 others(59): Show |
62 | 390 | 0.1590 | -8 | c.-45 others(19): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 3926 | chr6 | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 16951500 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03927.hp2 NA19057.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0003g0012 a0001c0001t0004g0100 a0001c0001t0017g0013 others(1): Show |
4 | 166 | 0.0241 | -8 | c.273 others(25): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 16953100 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0132 | 1 | 166 | 0.0060 | -8 | c.273 others(25): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 16956284 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0009a0003c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(99): Show |
102 | 166 | 0.6145 | -8 | c.273 others(25): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 16962276 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02293.hp1 HG02717.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0006g0133 others(4): Show |
7 | 166 | 0.0422 | -8 | c.273 others(27): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17011057 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0135 | 1 | 166 | 0.0060 | -8 | c.397 others(25): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17013624 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG01261.hp1 others(24): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0068 a0001c0001t0001g0077 others(24): Show |
27 | 166 | 0.1627 | -8 | c.397 others(25): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17050141 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 166 | 0.0060 | -8 | c.908 others(25): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17050190 | CTTTCTTT others(1): Show |
C | intron_variant | MODIFIER | HG03579.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0087 |
2 | 166 | 0.0121 | -8 | c.908 others(25): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 17050237 | TGGAGTGC others(1): Show |
T | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0138 | 1 | 166 | 0.0060 | -8 | c.908 others(25): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar |