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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPTOR_chr17_80539838_80971368 | 80585166 | TTTATTA | T | intron_variant | MODIFIER | HG00438.hp2 HG01496.hp2 HG01516.hp1 others(22): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0007others(17): Show | a0001c0003t0001a0001c0003t0004a0001c0004t0035others(20): Show | a0001c0003t0001g0182a0001c0003t0004g0119a0001c0004t0035g0004others(22): Show | 25 | 196 | 0.1276 | -6 | c.162 others(25): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80591063 | AGTTGTT | A | intron_variant | MODIFIER | HG01255.hp2 HG02451.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0005a0001c0006a0001c0007others(3): Show | a0001c0005t0074a0001c0005t0075a0001c0005t0083others(5): Show | a0001c0005t0074g0008a0001c0005t0075g0009a0001c0005t0083g0017others(6): Show | 9 | 196 | 0.0459 | -6 | c.163 others(25): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80674787 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(50): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(40): Show | a0001c0002t0008a0001c0002t0017a0001c0003t0001others(46): Show | a0001c0002t0008g0131a0001c0002t0017g0118a0001c0003t0001g0154others(50): Show | 53 | 196 | 0.2704 | -6 | c.348 others(25): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80685602 | CATATAT | C | intron_variant | MODIFIER | HG01516.hp1 HG02273.hp2 HG03834.hp2 others(1): Show |
a0001 | a0001c0028a0001c0030a0001c0051 | a0001c0028t0019a0001c0030t0003a0001c0051t0060 | a0001c0028t0019g0024a0001c0030t0003g0115a0001c0030t0003g0117others(1): Show | 4 | 196 | 0.0204 | -6 | c.349 others(25): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80700439 | ATGGTGG | A | intron_variant | MODIFIER | HG00438.hp2 HG01516.hp1 HG01884.hp1 others(11): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0012others(9): Show | a0001c0003t0004a0001c0005t0026a0001c0005t0067others(10): Show | a0001c0003t0004g0119a0001c0005t0026g0109a0001c0005t0067g0111others(11): Show | 14 | 196 | 0.0714 | -6 | c.349 others(23): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80823641 | TCACACA | T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01255.hp2 others(18): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0004others(12): Show | a0001c0002t0017a0001c0003t0004a0001c0004t0023others(15): Show | a0001c0002t0017g0118a0001c0003t0004g0119a0001c0004t0023g0074others(18): Show | 21 | 196 | 0.1071 | -6 | c.113 others(23): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80952855 | CTTTTTT | C | intron_variant | MODIFIER | HG01255.hp2 HG03041.hp2 HG03516.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0008others(2): Show | a0001c0002t0017a0001c0006t0087a0001c0008t0081others(2): Show | a0001c0002t0017g0118a0001c0006t0087g0013a0001c0008t0081g0019others(2): Show | 5 | 196 | 0.0255 | -6 | c.337 others(25): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 28/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RRAGB_chrX_55712749_55763774 | 55740389 | ATCTTTT | A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 276 | 0.0036 | -6 | c.516 others(23): Show |
RRAGB | ENSG00000083750.13 | transcript | ENST00000374941.9 | protein_coding | 5/9 | chrX | TogoVar | |||||||
RRAGB_chrX_55712749_55763774 | 55747812 | GCTCCCT | G | intron_variant | MODIFIER | HG02109.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 276 | 0.0073 | -6 | c.517 others(23): Show |
RRAGB | ENSG00000083750.13 | transcript | ENST00000374941.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RRAGB_chrX_55712749_55763774 | 55750184 | ATGTGTG | A | intron_variant | MODIFIER | HG03041.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 2 | 276 | 0.0073 | -6 | c.517 others(21): Show |
RRAGB | ENSG00000083750.13 | transcript | ENST00000374941.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RRAGD_chr6_89359616_89417273 | 89376300 | GGTGTGT | G | intron_variant | MODIFIER | HG00741.hp1 HG02258.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0022others(4): Show | a0001c0001t0003g0060a0001c0001t0003g0072a0001c0001t0003g0073others(9): Show | 12 | 372 | 0.0323 | -6 | c.902 others(23): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14275084 | CAAAACA | C | downstream_gene_variant | MODIFIER | HG01516.hp2 HG03669.hp1 NA18945.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0188others(3): Show | 6 | 279 | 0.0215 | -6 | c.*42 others(17): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 2837 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14280726 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0018others(121): Show | 125 | 279 | 0.4480 | -6 | c.527 others(21): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 5/5 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14293124 | AATATAT | A | intron_variant | MODIFIER | HG00408.hp1 HG04115.hp2 NA18612.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0216a0001c0001t0002g0100a0001c0001t0002g0109others(2): Show | 5 | 279 | 0.0179 | -6 | c.408 others(23): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14329011 | GTATATA | G | intron_variant | MODIFIER | HG01167.hp2 HG01516.hp1 HG01517.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0037others(2): Show | 5 | 279 | 0.0179 | -6 | c.108 others(25): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14329068 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00673.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0055others(14): Show | 17 | 279 | 0.0609 | -6 | c.108 others(25): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RREB1_chr6_7102961_7256980 | 7219092 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG01074.hp2 others(11): Show |
a0002a0007a0010others(1): Show | a0002c0007a0007c0009a0010c0021others(2): Show | a0002c0007t0011a0007c0009t0005a0007c0009t0039others(5): Show | a0002c0007t0011g0160a0007c0009t0005g0007a0007c0009t0005g0008others(11): Show | 14 | 292 | 0.0480 | -6 | c.708 others(23): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RREB1_chr6_7102961_7256980 | 7249062 | TGAGAGA | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp2 others(77): Show |
a0002a0003a0004others(17): Show | a0002c0004a0002c0023a0002c0046others(28): Show | a0002c0004t0003a0002c0004t0022a0002c0004t0026others(42): Show | a0002c0004t0003g0052a0002c0004t0003g0082a0002c0004t0003g0094others(77): Show | 80 | 292 | 0.2740 | -6 | c.*13 others(15): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 13/13 | 131 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RRH_chr4_109822972_109849942 | 109832495 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(33): Show | 134 | 402 | 0.3333 | -6 | c.107 others(21): Show |
RRH | ENSG00000180245.7 | transcript | ENST00000317735.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RRM2_chr2_10117739_10136414 | 10131437 | CATTTTA | C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01069.hp1 others(58): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0049others(20): Show | 61 | 358 | 0.1704 | -6 | c.*20 others(17): Show |
RRM2 | ENSG00000171848.16 | transcript | ENST00000304567.10 | protein_coding | 24 | chr2 | TogoVar | |||||||
RRP15_chr1_218280293_218342983 | 218331651 | CTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG01167.hp1 others(32): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0005a0001c0001t0013a0001c0001t0047others(7): Show | a0001c0001t0005g0019a0001c0001t0005g0020a0001c0001t0005g0021others(31): Show | 35 | 360 | 0.0972 | -6 | c.*59 others(15): Show |
RRP15 | ENSG00000067533.6 | transcript | ENST00000366932.4 | protein_coding | 5/5 | 594 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RRP1_chr21_43784577_43810293 | 43785084 | GTGTATA | G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01069.hp2 others(45): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0004a0001c0004t0015a0001c0004t0016others(2): Show | a0001c0004t0004g0004a0001c0004t0004g0007a0001c0004t0004g0009others(14): Show | 48 | 394 | 0.1218 | -6 | c.-45 others(17): Show |
RRP1 | ENSG00000160214.13 | transcript | ENST00000497547.2 | protein_coding | 4492 | chr21 | TogoVar | |||||||
RRP1_chr21_43784577_43810293 | 43785086 | GTATATA | G | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01081.hp1 others(85): Show |
a0001a0002a0005 | a0001c0003a0002c0002a0005c0009 | a0001c0003t0002a0001c0003t0032a0002c0002t0001others(4): Show | a0001c0003t0002g0036a0001c0003t0032g0002a0002c0002t0001g0003others(24): Show | 88 | 394 | 0.2234 | -6 | c.-45 others(17): Show |
RRP1 | ENSG00000160214.13 | transcript | ENST00000497547.2 | protein_coding | 4490 | chr21 | TogoVar | |||||||
RRP1_chr21_43784577_43810293 | 43805783 | TTTTTTA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(122): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0012others(5): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0003g0001a0001c0001t0003g0017a0001c0001t0003g0018others(39): Show | 125 | 394 | 0.3173 | -6 | c.*20 others(17): Show |
RRP1 | ENSG00000160214.13 | transcript | ENST00000497547.2 | protein_coding | 491 | chr21 | TogoVar | |||||||
RRP36_chr6_43016623_43034599 | 43021675 | CGCCGGG | C | conservative_inframe_deletion | MODERATE | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(145): Show |
a0002a0005a0007others(2): Show | a0002c0002a0002c0003a0002c0005others(5): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0005others(7): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0006others(82): Show | 148 | 334 | 0.4431 | -6 | c.43_ others(11): Show |
p.Gly others(11): Show |
RRP36 | ENSG00000124541.7 | transcript | ENST00000244496.6 | protein_coding | 1/7 | 75/1183 | 43/780 | 15/259 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
RRP36_chr6_43016623_43034599 | 43027762 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00673.hp1 others(49): Show |
a0002a0004a0010others(1): Show | a0002c0002a0002c0003a0002c0005others(4): Show | a0002c0002t0001a0002c0003t0001a0002c0005t0001others(4): Show | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0108others(27): Show | 52 | 334 | 0.1557 | -6 | c.643 others(21): Show |
RRP36 | ENSG00000124541.7 | transcript | ENST00000244496.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RRS1_chr8_66424014_66435733 | 66431166 | AACTTAT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(50): Show |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0001a0005c0007t0001 | a0001c0002t0001g0000a0005c0007t0001g0000 | 53 | 426 | 0.1244 | -6 | c.*93 others(15): Show |
RRS1 | ENSG00000179041.4 | transcript | ENST00000320270.4 | protein_coding | 434 | chr8 | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18636336 | TTTATTA | T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(74): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(72): Show | 77 | 308 | 0.2500 | -6 | c.*56 others(17): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 3351 | chrX | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18651220 | AGTGTGT | A | intron_variant | MODIFIER | HG00673.hp1 HG01106.hp1 HG01891.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0120a0001c0001t0001g0146a0001c0001t0002g0288others(5): Show | 8 | 308 | 0.0260 | -6 | c.185 others(23): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 3/5 | chrX | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18651260 | TGTGTGA | T | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 308 | 0.0033 | -6 | c.185 others(23): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 3/5 | chrX | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18655979 | TCTTTTC | T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 308 | 0.0033 | -6 | c.184 others(21): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 3/5 | chrX | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18658780 | TTCATCA | T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0247 | 1 | 308 | 0.0033 | -6 | c.53- others(21): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 1/5 | chrX | TogoVar | |||||||
RSAD1_chr17_50473860_50490974 | 50483191 | AAGAAAG | A | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02723.hp1 others(7): Show |
a0003 | a0003c0004a0003c0009 | a0003c0004t0001a0003c0009t0001 | a0003c0004t0001g0006a0003c0009t0001g0006 | 10 | 382 | 0.0262 | -6 | c.905 others(21): Show |
RSAD1 | ENSG00000136444.10 | transcript | ENST00000258955.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RSAD2_chr2_6872777_6903239 | 6893246 | ACCCTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(192): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0013others(73): Show | 195 | 340 | 0.5735 | -6 | c.889 others(21): Show |
RSAD2 | ENSG00000134321.13 | transcript | ENST00000382040.4 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
RSBN1L_chr7_77691459_77788022 | 77709152 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(79): Show |
a0001a0007 | a0001c0002a0001c0005a0007c0008 | a0001c0002t0001a0001c0002t0006a0001c0002t0016others(7): Show | a0001c0002t0001g0002a0001c0002t0001g0218a0001c0002t0001g0220others(78): Show | 82 | 336 | 0.2441 | -6 | c.586 others(25): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77709192 | GTGTGTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(56): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(8): Show | a0001c0001t0002g0038a0001c0001t0002g0040a0001c0001t0002g0041others(56): Show | 59 | 336 | 0.1756 | -6 | c.586 others(25): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77739711 | GAAAAAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01192.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0022a0002c0003t0004others(1): Show | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0004g0109others(12): Show | 15 | 336 | 0.0446 | -6 | c.703 others(23): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77755671 | CAAAACA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(207): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0038a0001c0001t0002g0040a0001c0001t0002g0041others(206): Show | 210 | 336 | 0.6250 | -6 | c.134 others(25): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1_chr1_113756832_113817476 | 113799565 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00642.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0128a0001c0001t0002g0191a0001c0001t0004g0127others(32): Show | 47 | 340 | 0.1382 | -6 | c.704 others(23): Show |
RSBN1 | ENSG00000081019.14 | transcript | ENST00000261441.9 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77658011 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01993.hp1 HG02293.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0044others(1): Show | a0001c0001t0001g0296a0001c0001t0001g0325a0001c0001t0004g0140others(4): Show | 7 | 352 | 0.0199 | -6 | c.*89 others(17): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1997 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77671138 | AATATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG01168.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0280a0001c0001t0001g0312a0001c0001t0001g0334others(15): Show | 18 | 352 | 0.0511 | -6 | c.375 others(23): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77682873 | AGCATGT | A | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0033 | a0001c0002t0010g0013a0001c0002t0010g0350a0001c0002t0010g0351others(1): Show | 4 | 352 | 0.0114 | -6 | c.306 others(23): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 11/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77729895 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(48): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0015a0001c0002t0024others(5): Show | a0001c0002t0003g0018a0001c0002t0003g0019a0001c0002t0003g0020others(48): Show | 51 | 352 | 0.1449 | -6 | c.579 others(23): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77737472 | AAACAAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0285a0001c0001t0001g0296a0001c0001t0001g0297others(4): Show | 7 | 352 | 0.0199 | -6 | c.578 others(23): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77737487 | CAACAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0048a0001c0002t0003g0052a0001c0002t0003g0055others(4): Show | 7 | 352 | 0.0199 | -6 | c.578 others(23): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77737619 | GGGGTGT | G | intron_variant | MODIFIER | HG02132.hp2 HG02257.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0003a0001c0002t0024others(2): Show | a0001c0001t0001g0328a0001c0002t0003g0040a0001c0002t0003g0081others(3): Show | 6 | 352 | 0.0171 | -6 | c.578 others(23): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77782171 | TAATTAC | T | intron_variant | MODIFIER | HG00673.hp2 HG02015.hp2 NA18979.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0231a0003c0004t0002g0232a0003c0004t0002g0234others(1): Show | 4 | 352 | 0.0114 | -6 | c.188 others(25): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77798581 | TAAAAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01515.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0110a0001c0001t0002g0114a0001c0001t0004g0180others(16): Show | 19 | 352 | 0.0540 | -6 | c.187 others(25): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77807616 | CATAAAT | C | intron_variant | MODIFIER | NA18969.hp2 NA19074.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313a0001c0001t0001g0314a0001c0001t0001g0315 | 3 | 352 | 0.0085 | -6 | c.187 others(25): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77813820 | GACACAC | G | intron_variant | MODIFIER | HG02523.hp1 HG02895.hp2 HG02897.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0002t0003g0019others(6): Show | 9 | 352 | 0.0256 | -6 | c.187 others(23): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1/15 | chr11 | TogoVar |