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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIMBP3C_chr22_21540666_21556461 | 21551866 | A | AACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01257.hp1 HG01258.hp1 others(4): Show |
a0002a0004a0013others(2): Show | a0002c0075a0004c0006a0013c0071others(2): Show | a0002c0075t0001a0004c0006t0002a0013c0071t0001others(2): Show | a0002c0075t0001g0000 a0004c0006t0002g0000 a0013c0071t0001g0000 others(2): Show |
7 | 200 | 0.0350 | 20 | c.-91 others(29): Show |
RIMBP3C | ENSG00000183246.8 | transcript | ENST00000433039.2 | protein_coding | 406 | chr22 | TogoVar | |||||||
RIMBP3C_chr22_21540666_21556461 | 21553026 | C | CTTTATTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0033 | a0033c0061 | a0033c0061t0001 | a0033c0061t0001g0000 | 1 | 200 | 0.0050 | 20 | c.-20 others(31): Show |
RIMBP3C | ENSG00000183246.8 | transcript | ENST00000433039.2 | protein_coding | 1566 | chr22 | TogoVar | |||||||
RIMBP3C_chr22_21540666_21556461 | 21553069 | T | TATTTTAT others(13): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0031 | a0031c0082 | a0031c0082t0001 | a0031c0082t0001g0000 | 1 | 200 | 0.0050 | 20 | c.-20 others(31): Show |
RIMBP3C | ENSG00000183246.8 | transcript | ENST00000433039.2 | protein_coding | 1609 | chr22 | TogoVar | |||||||
RIMKLA_chr1_42375792_42429232 | 42384551 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0091 | 1 | 356 | 0.0028 | 20 | c.163 others(37): Show |
RIMKLA | ENSG00000177181.15 | transcript | ENST00000431473.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIMKLA_chr1_42375792_42429232 | 42385844 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0036 | 1 | 356 | 0.0028 | 20 | c.163 others(37): Show |
RIMKLA | ENSG00000177181.15 | transcript | ENST00000431473.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIMKLA_chr1_42375792_42429232 | 42385844 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0306 | 1 | 356 | 0.0028 | 20 | c.163 others(37): Show |
RIMKLA | ENSG00000177181.15 | transcript | ENST00000431473.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIMKLA_chr1_42375792_42429232 | 42385891 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0094 | 1 | 356 | 0.0028 | 20 | c.163 others(37): Show |
RIMKLA | ENSG00000177181.15 | transcript | ENST00000431473.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIMKLA_chr1_42375792_42429232 | 42385891 | T | TTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0092 | 1 | 356 | 0.0028 | 20 | c.163 others(37): Show |
RIMKLA | ENSG00000177181.15 | transcript | ENST00000431473.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIMKLB_chr12_8692991_8782191 | 8718657 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0283 | 1 | 294 | 0.0034 | 20 | c.175 others(37): Show |
RIMKLB | ENSG00000166532.16 | transcript | ENST00000535829.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RIMKLB_chr12_8692991_8782191 | 8732756 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0245 a0001c0002t0006g0246 a0001c0002t0006g0252 others(2): Show |
5 | 294 | 0.0170 | 20 | c.176 others(39): Show |
RIMKLB | ENSG00000166532.16 | transcript | ENST00000535829.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RIMOC1_chr5_41899344_41926636 | 41901253 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG06807.hp2 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0001g0047 others(1): Show |
4 | 318 | 0.0126 | 20 | c.-31 others(31): Show |
RIMOC1 | ENSG00000205765.10 | transcript | ENST00000381647.7 | protein_coding | 3090 | chr5 | TogoVar | |||||||
RIMS1_chr6_71881550_72408145 | 71992404 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0067 | 1 | 140 | 0.0071 | 20 | c.245 others(39): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72038114 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 140 | 0.0071 | 20 | c.246 others(39): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72092287 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0052 | 1 | 140 | 0.0071 | 20 | c.246 others(37): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72092291 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0044 | 1 | 140 | 0.0071 | 20 | c.246 others(37): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72092291 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 140 | 0.0071 | 20 | c.246 others(37): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72093210 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0005t0001others(3): Show | a0001c0001t0002g0079 a0001c0001t0005g0043 a0001c0005t0001g0053 others(4): Show |
7 | 140 | 0.0500 | 20 | c.246 others(37): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72196381 | A | ATCTATCT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0073 | 1 | 140 | 0.0071 | 20 | c.167 others(41): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 6/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72271284 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0111 | 1 | 140 | 0.0071 | 20 | c.339 others(39): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72271286 | A | AAAATATA others(13): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 140 | 0.0071 | 20 | c.339 others(39): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72271286 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03927.hp1 HG04184.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0112 a0001c0003t0004g0113 |
2 | 140 | 0.0143 | 20 | c.339 others(39): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72375784 | G | GTTTTTGC others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0027 | 1 | 140 | 0.0071 | 20 | c.436 others(41): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 29/33 | chr6 | TogoVar | |||||||
RIMS2_chr8_103495610_104259430 | 103559056 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02135.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0006a0001c0003t0001a0001c0003t0005others(3): Show | a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0003t0001g0125 others(6): Show |
9 | 172 | 0.0523 | 20 | c.176 others(39): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMS2_chr8_103495610_104259430 | 103587409 | G | GAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18977.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0002 | a0001c0003t0001g0042 a0002c0002t0002g0083 |
2 | 172 | 0.0116 | 20 | c.177 others(39): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMS2_chr8_103495610_104259430 | 103737496 | T | TTCTTAAT others(13): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01928.hp2 NA18939.hp1 others(2): Show |
a0001a0006a0015 | a0001c0001a0001c0003a0006c0017others(1): Show | a0001c0001t0004a0001c0003t0001a0006c0017t0001others(1): Show | a0001c0001t0004g0006 a0001c0001t0004g0017 a0001c0003t0001g0115 others(2): Show |
5 | 172 | 0.0291 | 20 | c.519 others(39): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMS2_chr8_103495610_104259430 | 103813389 | C | CTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02602.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0017 | a0001c0003t0001g0160 a0002c0002t0017g0064 |
2 | 172 | 0.0116 | 20 | c.830 others(39): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMS2_chr8_103495610_104259430 | 103834676 | T | TTTTCTTC others(13): Show |
intron_variant | MODIFIER | HG02647.hp2 HG04199.hp2 NA19056.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0001c0003t0009a0002c0002t0002 | a0001c0003t0001g0125 a0001c0003t0009g0158 a0002c0002t0002g0159 |
3 | 172 | 0.0174 | 20 | c.831 others(39): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMS2_chr8_103495610_104259430 | 103834676 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0150 | 1 | 172 | 0.0058 | 20 | c.831 others(39): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMS2_chr8_103495610_104259430 | 104145671 | C | CAATAAAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0027 a0001c0001t0006g0170 |
2 | 172 | 0.0116 | 20 | c.386 others(39): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMS2_chr8_103495610_104259430 | 104229366 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02015.hp1 HG02258.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0004a0001c0001t0014a0001c0004t0001others(1): Show | a0001c0001t0004g0006 a0001c0001t0004g0010 a0001c0001t0004g0017 others(14): Show |
17 | 172 | 0.0988 | 20 | c.410 others(41): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMS3_chr1_40615680_40670682 | 40617239 | A | ATCCTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 a0001c0001t0003g0267 |
2 | 376 | 0.0053 | 20 | c.*92 others(31): Show |
RIMS3 | ENSG00000117016.10 | transcript | ENST00000372684.8 | protein_coding | 3440 | chr1 | TogoVar | |||||||
RIMS3_chr1_40615680_40670682 | 40617242 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 NA18979.hp2 NA18995.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0001 | a0001c0001t0005g0192 a0001c0001t0005g0203 a0003c0003t0001g0094 |
3 | 376 | 0.0080 | 20 | c.*92 others(31): Show |
RIMS3 | ENSG00000117016.10 | transcript | ENST00000372684.8 | protein_coding | 3437 | chr1 | TogoVar | |||||||
RIMS3_chr1_40615680_40670682 | 40670574 | T | TTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01243.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0065 others(22): Show |
28 | 376 | 0.0745 | 20 | c.-53 others(31): Show |
RIMS3 | ENSG00000117016.10 | transcript | ENST00000372684.8 | protein_coding | 4893 | chr1 | TogoVar | |||||||
RIMS4_chr20_44746808_44815546 | 44764115 | T | TATCCATC others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG01123.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0126 a0001c0001t0001g0183 a0001c0001t0001g0271 others(22): Show |
30 | 382 | 0.0785 | 20 | c.237 others(37): Show |
RIMS4 | ENSG00000101098.13 | transcript | ENST00000372851.8 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
RIMS4_chr20_44746808_44815546 | 44815026 | C | CTGTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG01884.hp1 HG01943.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0025a0001c0001t0036others(4): Show | a0001c0001t0006g0011 a0001c0001t0006g0305 a0001c0001t0006g0308 others(8): Show |
12 | 382 | 0.0314 | 20 | c.-47 others(31): Show |
RIMS4 | ENSG00000101098.13 | transcript | ENST00000372851.8 | protein_coding | 4481 | chr20 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19764918 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 276 | 0.0036 | 20 | c.-16 others(39): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19788432 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0128 | 1 | 276 | 0.0036 | 20 | c.-16 others(41): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19788435 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0163 | 1 | 276 | 0.0036 | 20 | c.-16 others(41): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19788435 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02559.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0032a0001c0001t0040others(4): Show | a0001c0001t0002g0238 a0001c0001t0032g0237 a0001c0001t0040g0242 others(4): Show |
7 | 276 | 0.0254 | 20 | c.-16 others(41): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19788439 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0234 | 1 | 276 | 0.0036 | 20 | c.-16 others(41): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19788439 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02723.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0002g0265 a0001c0001t0008g0160 a0001c0001t0009g0159 others(5): Show |
8 | 276 | 0.0290 | 20 | c.-16 others(41): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19833283 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0161 | 1 | 276 | 0.0036 | 20 | c.-37 others(39): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19923425 | T | TAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03130.hp2 NA18522.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0255 a0001c0001t0002g0019 others(3): Show |
6 | 276 | 0.0217 | 20 | c.58- others(37): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92518789 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02109.hp1 |
a0007a0013 | a0007c0007a0013c0014 | a0007c0007t0001a0013c0014t0001 | a0007c0007t0001g0068 a0013c0014t0001g0190 |
2 | 334 | 0.0060 | 20 | c.44+ others(35): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92561044 | A | AAAAAATA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 334 | 0.0030 | 20 | c.249 others(37): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92661723 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0282 a0002c0002t0001g0283 |
2 | 334 | 0.0060 | 20 | c.233 others(39): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92666038 | A | ACCTCCAC others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02027.hp2 HG02615.hp1 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0079 a0001c0001t0002g0156 a0002c0002t0001g0101 others(7): Show |
10 | 334 | 0.0299 | 20 | c.233 others(39): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RINL_chr19_38862830_38883275 | 38870242 | G | GCCGTCTC others(13): Show |
frameshift_variant | HIGH | NA19063.hp1 | a0012 | a0012c0013 | a0012c0013t0003 | a0012c0013t0003g0091 | 1 | 406 | 0.0025 | 20 | c.102 others(31): Show |
p.Ala others(5): Show |
RINL | ENSG00000187994.14 | transcript | ENST00000591812.2 | protein_coding | 9/12 | 1125/3058 | 1042/1701 | 348/566 | chr19 | TogoVar | |||
RIOK3_chr18_23448287_23488140 | 23451472 | C | CAAAAGAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00639.hp1 others(44): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0038 others(43): Show |
47 | 402 | 0.1169 | 20 | c.-19 others(31): Show |
RIOK3 | ENSG00000101782.15 | transcript | ENST00000339486.8 | protein_coding | 1814 | chr18 | TogoVar | |||||||
RIOK3_chr18_23448287_23488140 | 23469394 | T | TCCCCTCT others(13): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0338 | 1 | 402 | 0.0025 | 20 | c.815 others(37): Show |
RIOK3 | ENSG00000101782.15 | transcript | ENST00000339486.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |