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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHURC1_chr14_64909455_64940368 | 64925824 | CGTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(111): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0009a0001c0001t0003g0010a0001c0001t0003g0032others(71): Show | 114 | 392 | 0.2908 | -3 | c.176 others(18): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CIAO2A_chr15_64067565_64098838 | 64087712 | CTTG | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019a0001c0002t0002g0044a0001c0002t0002g0045others(1): Show | 5 | 338 | 0.0148 | -3 | c.289 others(18): Show |
CIAO2A | ENSG00000166797.11 | transcript | ENST00000300030.8 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
CIAO2A_chr15_64067565_64098838 | 64094802 | CAAA | C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01261.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0013a0001c0001t0001g0073a0001c0001t0001g0077others(5): Show | 10 | 338 | 0.0296 | -3 | c.-10 others(14): Show |
CIAO2A | ENSG00000166797.11 | transcript | ENST00000300030.8 | protein_coding | 965 | chr15 | TogoVar | ||||||
CIAPIN1_chr16_57423187_57452385 | 57445834 | GTTT | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0021others(30): Show | 70 | 390 | 0.1795 | -3 | c.-56 others(20): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
CIB1_chr15_90224975_90238941 | 90234168 | AGGG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(373): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(45): Show | 376 | 460 | 0.8174 | -3 | c.-28 others(12): Show |
CIB1 | ENSG00000185043.13 | transcript | ENST00000328649.11 | protein_coding | 228 | chr15 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78115676 | CTTT | C | intron_variant | MODIFIER | HG02630.hp1 HG02683.hp2 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0004 | a0001c0001t0002g0079a0001c0001t0002g0080a0001c0001t0002g0082others(2): Show | 6 | 390 | 0.0154 | -3 | c.87- others(18): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78117246 | CAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00738.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0119a0001c0001t0001g0130others(36): Show | 54 | 390 | 0.1385 | -3 | c.87- others(18): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CIB3_chr19_16156368_16178525 | 16162886 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(129): Show | 258 | 378 | 0.6825 | -3 | c.543 others(20): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26588966 | TGCC | T | intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG02027.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0086a0001c0001t0001g0098others(12): Show | 16 | 344 | 0.0465 | -3 | c.329 others(20): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589057 | TTCC | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00735.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0002others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0097others(15): Show | 18 | 344 | 0.0523 | -3 | c.329 others(20): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589060 | CTCT | C | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0007 | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0064a0001c0001t0001g0157others(4): Show | 8 | 344 | 0.0233 | -3 | c.329 others(20): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589063 | TTCC | T | intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG03239.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0004 | a0001c0001t0001g0130a0001c0001t0001g0217a0001c0001t0002g0232others(1): Show | 4 | 344 | 0.0116 | -3 | c.329 others(20): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589069 | TTCC | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0028others(28): Show | 32 | 344 | 0.0930 | -3 | c.329 others(20): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589105 | TTCC | T | intron_variant | MODIFIER | HG00099.hp1 HG01169.hp2 HG01257.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0142a0001c0001t0002g0225a0002c0002t0002g0056others(3): Show | 6 | 344 | 0.0174 | -3 | c.329 others(20): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589108 | CTCT | C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01192.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0044a0001c0001t0001g0213a0001c0001t0001g0276others(3): Show | 6 | 344 | 0.0174 | -3 | c.329 others(20): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26615582 | CTCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(221): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(215): Show | 224 | 344 | 0.6512 | -3 | c.186 others(22): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26626400 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(149): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0011others(147): Show | 152 | 344 | 0.4419 | -3 | c.186 others(20): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26636223 | TATA | T | intron_variant | MODIFIER | NA18943.hp2 NA18985.hp1 NA19000.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0326a0002c0002t0002g0327a0002c0002t0002g0328others(1): Show | 4 | 344 | 0.0116 | -3 | c.89+ others(18): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 2/6 | chr2 | TogoVar | ||||||
CIBAR1_chr8_93695550_93736527 | 93728272 | CAGA | C | conservative_inframe_deletion | MODERATE | HG01243.hp2 HG01884.hp1 HG02109.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0007a0002c0002t0024others(2): Show | a0002c0002t0004g0011a0002c0002t0004g0044a0002c0002t0004g0088others(10): Show | 20 | 374 | 0.0535 | -3 | c.853 others(10): Show |
p.Glu others(6): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 9/9 | 951/4198 | 853/870 | 285/289 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
CIDEA_chr18_12249361_12282595 | 12270894 | CTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01243.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0002c0002t0001a0002c0008t0001 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0078others(14): Show | 19 | 448 | 0.0424 | -3 | c.331 others(20): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CIDEA_chr18_12249361_12282595 | 12272146 | GTGT | G | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169a0002c0002t0001g0172a0002c0002t0001g0182others(1): Show | 4 | 448 | 0.0089 | -3 | c.331 others(20): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | chr18 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9874518 | AAAT | A | intron_variant | MODIFIER | HG02486.hp1 HG02717.hp2 NA18983.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0103a0001c0003t0001g0129a0001c0003t0001g0150others(1): Show | 4 | 410 | 0.0098 | -3 | c.207 others(20): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9882413 | CCAA | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01167.hp1 HG02083.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0001a0001c0001t0003g0004a0001c0003t0001g0008others(1): Show | 4 | 410 | 0.0098 | -3 | c.-23 others(14): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 2161 | chr3 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9883168 | CTTT | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG02027.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0024a0001c0001t0003g0004a0001c0001t0008g0112others(7): Show | 15 | 410 | 0.0366 | -3 | c.-30 others(14): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 2916 | chr3 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10893804 | TAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(83): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0064a0001c0001t0001g0084a0001c0001t0001g0095others(80): Show | 86 | 392 | 0.2194 | -3 | c.53- others(18): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CIITA_chr16_10872202_10941394 | 10911213 | TCTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02145.hp2 others(8): Show |
a0001a0003a0008others(5): Show | a0001c0020a0001c0048a0003c0051others(7): Show | a0001c0020t0030a0001c0048t0110a0003c0051t0116others(8): Show | a0001c0020t0030g0020a0001c0048t0110g0025a0003c0051t0116g0374others(8): Show | 11 | 392 | 0.0281 | -3 | c.288 others(20): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 13/19 | chr16 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10919280 | GCCC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(382): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0003a0001c0005others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(242): Show | a0001c0001t0001g0064a0001c0001t0001g0067a0001c0001t0001g0084others(376): Show | 385 | 392 | 0.9821 | -3 | c.314 others(20): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CILK1_chr6_52996303_53066824 | 52998688 | GTGT | G | downstream_gene_variant | MODIFIER | HG01346.hp1 HG01891.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0021 | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0036others(3): Show | 6 | 244 | 0.0246 | -3 | c.*64 others(14): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 2614 | chr6 | TogoVar | ||||||
CILK1_chr6_52996303_53066824 | 53047500 | CTTT | C | intron_variant | MODIFIER | HG02015.hp2 NA18941.hp2 NA18987.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0022 | a0001c0002t0002g0024a0001c0002t0002g0028a0001c0002t0002g0047others(7): Show | 12 | 244 | 0.0492 | -3 | c.-17 others(22): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CILP_chr15_65189760_65216473 | 65201728 | CAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG02280.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0032a0002c0002t0001g0118a0002c0002t0001g0132others(2): Show | 6 | 332 | 0.0181 | -3 | c.118 others(20): Show |
CILP | ENSG00000138615.6 | transcript | ENST00000261883.6 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
CILP_chr15_65189760_65216473 | 65209012 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(137): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0013a0002c0002others(9): Show | a0001c0001t0001a0001c0013t0001a0002c0002t0001others(15): Show | a0001c0001t0001g0015a0001c0001t0001g0041a0001c0001t0001g0125others(61): Show | 140 | 332 | 0.4217 | -3 | c.61+ others(16): Show |
CILP | ENSG00000138615.6 | transcript | ENST00000261883.6 | protein_coding | 2/8 | chr15 | TogoVar | ||||||
CINP_chr14_102343282_102367890 | 102344096 | GCTC | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp2 others(41): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0001c0001t0006a0005c0007t0010 | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0017others(19): Show | 44 | 420 | 0.1048 | -3 | c.*44 others(14): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 4185 | chr14 | TogoVar | ||||||
CINP_chr14_102343282_102367890 | 102350805 | TCTC | T | intron_variant | MODIFIER | NA18952.hp1 NA18966.hp2 NA19001.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040a0001c0002t0001g0100 | 3 | 420 | 0.0071 | -3 | c.307 others(18): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 3/4 | chr14 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108553121 | GTTT | G | intron_variant | MODIFIER | HG00733.hp1 HG01257.hp1 HG01258.hp2 others(5): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0020 | a0001c0001t0001a0002c0002t0001a0012c0020t0001 | a0001c0001t0001g0034a0001c0001t0001g0036a0001c0001t0001g0037others(5): Show | 8 | 372 | 0.0215 | -3 | c.240 others(20): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 19/20 | chr3 | TogoVar | ||||||
CIPC_chr14_77093258_77122287 | 77094296 | ATTT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00673.hp1 NA18939.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0011a0003c0004t0035 | a0001c0001t0001g0012a0003c0004t0011g0015a0003c0004t0011g0081others(1): Show | 8 | 426 | 0.0188 | -3 | c.-41 others(14): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 3961 | chr14 | TogoVar | ||||||
CIPC_chr14_77093258_77122287 | 77100240 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp1 others(202): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(57): Show | 205 | 426 | 0.4812 | -3 | c.-53 others(20): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CIPC_chr14_77093258_77122287 | 77115241 | GTTT | G | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01884.hp2 others(8): Show |
a0002a0003 | a0002c0003a0002c0009a0003c0004 | a0002c0003t0018a0002c0003t0033a0002c0009t0037others(2): Show | a0002c0003t0018g0045a0002c0003t0033g0080a0002c0009t0037g0119others(3): Show | 11 | 426 | 0.0258 | -3 | c.*93 others(12): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 4/4 | 935 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
CIPC_chr14_77093258_77122287 | 77119146 | CGTT | C | downstream_gene_variant | MODIFIER | HG00738.hp1 NA18977.hp2 NA19058.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0092 | 4 | 426 | 0.0094 | -3 | c.*48 others(14): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 1860 | chr14 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174354454 | TATA | T | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02896.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0015a0001c0001t0002g0127a0001c0001t0002g0174others(5): Show | 10 | 348 | 0.0287 | -3 | c.485 others(20): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174354578 | ATAT | A | intron_variant | MODIFIER | HG02451.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0049a0001c0001t0005g0096a0001c0001t0005g0111others(2): Show | 5 | 348 | 0.0144 | -3 | c.485 others(20): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174359334 | TAAA | T | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp2 HG02630.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0099others(13): Show | 18 | 348 | 0.0517 | -3 | c.485 others(20): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174360245 | TTTA | T | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp2 HG02630.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0206a0002c0002t0003g0010a0002c0002t0003g0017others(12): Show | 17 | 348 | 0.0489 | -3 | c.485 others(20): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174362685 | TCAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(141): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0004a0004c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(131): Show | 144 | 348 | 0.4138 | -3 | c.485 others(22): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174378523 | TTTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(111): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0004a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(104): Show | 114 | 348 | 0.3276 | -3 | c.484 others(18): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174380899 | TATC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(111): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0004a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(104): Show | 114 | 348 | 0.3276 | -3 | c.242 others(16): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
CIRBP_chr19_1264332_1279810 | 1266441 | TAGG | T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02572.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0010a0001c0002t0007g0011 | 3 | 280 | 0.0107 | -3 | c.-29 others(14): Show |
CIRBP | ENSG00000099622.14 | transcript | ENST00000587896.6 | protein_coding | 2890 | chr19 | TogoVar | ||||||
CIROP_chr14_23094062_23109989 | 23097168 | AAAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(198): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0016a0001c0023others(9): Show | a0001c0001t0001a0001c0016t0001a0001c0023t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(24): Show | 201 | 450 | 0.4467 | -3 | c.*21 others(14): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 1893 | chr14 | TogoVar | ||||||
CIROP_chr14_23094062_23109989 | 23104886 | GGCA | G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(258): Show |
a0001a0004a0005others(12): Show | a0001c0001a0001c0016a0001c0023others(15): Show | a0001c0001t0001a0001c0016t0001a0001c0023t0001others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(37): Show | 261 | 450 | 0.5800 | -3 | c.32_ others(8): Show |
p.Leu others(5): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 1/16 | 103/2656 | 32/2367 | 11/788 | chr14 | TogoVar | ||
CIROP_chr14_23094062_23109989 | 23105759 | CTTT | C | upstream_gene_variant | MODIFIER | HG01516.hp2 NA18939.hp1 NA18945.hp1 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0003c0003t0001g0011others(3): Show | 9 | 450 | 0.0200 | -3 | c.-84 others(12): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 771 | chr14 | TogoVar | ||||||
CISD1_chr10_58264162_58294586 | 58277756 | AAAG | A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00609.hp1 others(180): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0010others(84): Show | 183 | 386 | 0.4741 | -3 | c.237 others(18): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |