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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CR1_chr1_207491157_207646765 | 207582003 | C | T | missense_variant others(1): Show |
MODERATE | HG04199.hp1 | a0037 | a0037c0066 | a0037c0066t0011 | a0037c0066t0011g0144 | 1 | 360 | 0.0028 | 0 | c.530 others(4): Show |
p.His others(7): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 32/47 | 5413/9937 | 5302/7470 | 1768/2489 | chr1 | TogoVar | ||
CR1_chr1_207491157_207646765 | 207618063 | G | C | splice_region_variant others(1): Show |
LOW | HG02273.hp1 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0217 | 1 | 360 | 0.0028 | 0 | c.689 others(6): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207621975 | A | G | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
a0001a0002a0004others(35): Show | a0001c0001a0001c0021a0001c0037others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(284): Show | 289 | 360 | 0.8028 | 0 | c.725 others(4): Show |
p.Thr others(7): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 44/47 | 7366/9937 | 7255/7470 | 2419/2489 | chr1 | TogoVar | ||
CR2_chr1_207449328_207494892 | 207466518 | C | T | splice_region_variant others(1): Show |
LOW | NA18989.hp1 NA18993.hp1 NA19070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032a0001c0001t0003g0036 | 4 | 378 | 0.0106 | 0 | c.59- others(4): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CR2_chr1_207449328_207494892 | 207472764 | C | A | splice_region_variant others(1): Show |
LOW | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0242 | 1 | 378 | 0.0027 | 0 | c.157 others(6): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 9/19 | chr1 | TogoVar | ||||||
CR2_chr1_207449328_207494892 | 207480052 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp1 | a0018 | a0018c0022 | a0018c0022t0002 | a0018c0022t0002g0005 | 1 | 378 | 0.0027 | 0 | c.318 others(4): Show |
p.Arg others(7): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 18/20 | 3278/4139 | 3187/3279 | 1063/1092 | chr1 | TogoVar | ||
CR2_chr1_207449328_207494892 | 207485454 | TTC | T | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG03579.hp2 NA19240.hp2 |
a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0020 | 3 | 378 | 0.0079 | -2 | c.318 others(15): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRABP2_chr1_156694606_156710583 | 156701059 | G | T | splice_region_variant others(1): Show |
LOW | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 436 | 0.0023 | 0 | c.71- others(4): Show |
CRABP2 | ENSG00000143320.9 | transcript | ENST00000368222.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
CRACDL_chr2_98788846_98941225 | 98838292 | A | G | splice_region_variant others(1): Show |
LOW | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 316 | 0.0032 | 0 | c.71- others(4): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56310666 | T | C | missense_variant others(1): Show |
MODERATE | HG01261.hp2 HG02015.hp1 HG02523.hp1 others(22): Show |
a0004a0017a0018 | a0004c0004a0004c0022a0017c0024others(1): Show | a0004c0004t0003a0004c0004t0004a0004c0004t0014others(3): Show | a0004c0004t0003g0188a0004c0004t0004g0064a0004c0004t0004g0066others(22): Show | 25 | 250 | 0.1000 | 0 | c.286 others(3): Show |
p.Ser others(5): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 6/11 | 823/7044 | 286/3702 | 96/1233 | chr4 | TogoVar | ||
CRACD_chr4_56044098_56335609 | 56324099 | C | T | splice_region_variant others(1): Show |
LOW | HG03225.hp1 | a0014 | a0014c0012 | a0014c0012t0010 | a0014c0012t0010g0154 | 1 | 250 | 0.0040 | 0 | c.337 others(6): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 9/10 | chr4 | TogoVar | ||||||
CRACR2A_chr12_3610328_3758109 | 3627430 | G | C | splice_region_variant others(1): Show |
LOW | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 320 | 0.0031 | 0 | c.193 others(6): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 17/19 | chr12 | TogoVar | ||||||
CRACR2A_chr12_3610328_3758109 | 3679105 | G | A | splice_region_variant others(1): Show |
LOW | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 320 | 0.0031 | 0 | c.341 others(5): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
CRACR2B_chr11_822919_836986 | 829539 | A | G | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(342): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0014a0001c0015others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0017others(49): Show | 345 | 448 | 0.7701 | 0 | c.457 others(3): Show |
p.Lys others(6): Show |
CRACR2B | ENSG00000177685.17 | transcript | ENST00000525077.2 | protein_coding | 3/9 | 1146/2166 | 457/1200 | 153/399 | chr11 | TogoVar | ||
CRACR2B_chr11_822919_836986 | 830136 | A | C | splice_region_variant others(1): Show |
LOW | HG02027.hp2 NA18970.hp2 NA18973.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0007a0001c0001t0007g0007 | 6 | 448 | 0.0134 | 0 | c.605 others(5): Show |
CRACR2B | ENSG00000177685.17 | transcript | ENST00000525077.2 | protein_coding | 4/8 | chr11 | TogoVar | ||||||
CRAMP1_chr16_1607360_1682908 | 1612663 | C | T | splice_region_variant others(1): Show |
LOW | HG03209.hp1 HG06807.hp2 |
a0002 | a0002c0006 | a0002c0006t0006a0002c0006t0035 | a0002c0006t0006g0286a0002c0006t0035g0287 | 2 | 332 | 0.0060 | 0 | c.-2+ others(4): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
CRAMP1_chr16_1607360_1682908 | 1662671 | T | C | splice_region_variant others(1): Show |
LOW | HG03098.hp2 NA19043.hp1 |
a0001 | a0001c0016a0001c0020 | a0001c0016t0036a0001c0020t0021 | a0001c0016t0036g0052a0001c0020t0021g0033 | 2 | 332 | 0.0060 | 0 | c.259 others(4): Show |
p.Ser others(6): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 12/21 | 2894/7972 | 2595/3810 | 865/1269 | chr16 | TogoVar | ||
CRAT_chr9_129089794_129115793 | 129097250 | C | CCGGTCGG others(8): Show |
disruptive_inframe_insertion others(1): Show |
MODERATE | NA18988.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0108 | 1 | 420 | 0.0024 | 15 | c.151 others(24): Show |
p.Arg others(28): Show |
CRAT | ENSG00000095321.18 | transcript | ENST00000318080.7 | protein_coding | 12/14 | 1810/2768 | 1526/1881 | 509/626 | chr9 | TogoVar | ||
CRAT_chr9_129089794_129115793 | 129098244 | C | T | splice_region_variant others(1): Show |
LOW | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 420 | 0.0024 | 0 | c.132 others(6): Show |
CRAT | ENSG00000095321.18 | transcript | ENST00000318080.7 | protein_coding | 10/13 | chr9 | TogoVar | ||||||
CRAT_chr9_129089794_129115793 | 129098375 | G | C | splice_region_variant others(1): Show |
LOW | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 420 | 0.0024 | 0 | c.120 others(6): Show |
CRAT | ENSG00000095321.18 | transcript | ENST00000318080.7 | protein_coding | 9/13 | chr9 | TogoVar | ||||||
CRB2_chr9_123351197_123383753 | 123367161 | T | TGTGC | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0002a0006a0011 | a0002c0037a0006c0012a0011c0018 | a0002c0037t0024a0006c0012t0001a0011c0018t0001others(1): Show | a0002c0037t0024g0100a0006c0012t0001g0011a0006c0012t0001g0074others(2): Show | 7 | 432 | 0.0162 | 4 | c.755 others(16): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CRB3_chr19_6459271_6472221 | 6465547 | C | G | missense_variant others(1): Show |
MODERATE | HG02976.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0018 | 1 | 390 | 0.0026 | 0 | c.85C others(2): Show |
p.Gln others(5): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3/4 | 259/1086 | 85/363 | 29/120 | chr19 | TogoVar | ||
CRBN_chr3_3145011_3184691 | 3172770 | T | G | splice_region_variant others(1): Show |
LOW | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 376 | 0.0027 | 0 | c.527 others(5): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 4/10 | chr3 | TogoVar | ||||||
CRCP_chr7_66109847_66159568 | 66134259 | CT | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(214): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0014others(200): Show | 217 | 380 | 0.5711 | -1 | c.145 others(6): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CRCT1_chr1_152509482_152521008 | 152514558 | T | C | splice_region_variant others(1): Show |
LOW | HG00597.hp1 HG00642.hp1 HG00673.hp1 others(38): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0003a0005c0008others(1): Show | a0001c0002t0002a0001c0002t0007a0002c0003t0002others(2): Show | a0001c0002t0002g0002a0001c0002t0007g0002a0002c0003t0002g0002others(2): Show | 41 | 432 | 0.0949 | 0 | c.-23 others(5): Show |
CRCT1 | ENSG00000169509.6 | transcript | ENST00000368790.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CREB3L1_chr11_46272662_46326409 | 46311189 | C | T | splice_region_variant others(1): Show |
LOW | NA18939.hp2 NA18983.hp1 NA19064.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0168a0001c0007t0001g0176a0001c0007t0001g0201 | 3 | 304 | 0.0099 | 0 | c.753 others(3): Show |
p.His others(6): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 5/12 | 1203/2673 | 753/1560 | 251/519 | chr11 | TogoVar | ||
CREB3L1_chr11_46272662_46326409 | 46320530 | TG | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(261): Show | 303 | 304 | 0.9967 | -1 | c.152 others(7): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CREB3L1_chr11_46272662_46326409 | 46320706 | C | T | splice_region_variant others(1): Show |
LOW | HG02630.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 2 | 304 | 0.0066 | 0 | c.152 others(6): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
CREB3L4_chr1_153962902_153979359 | 153968516 | C | T | splice_region_variant others(1): Show |
LOW | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 394 | 0.0025 | 0 | c.-4- others(4): Show |
CREB3L4 | ENSG00000143578.16 | transcript | ENST00000368607.8 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CREB3L4_chr1_153962902_153979359 | 153973189 | T | C | splice_region_variant others(1): Show |
LOW | HG02280.hp1 NA19043.hp2 |
a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0030a0005c0010t0002g0031 | 2 | 394 | 0.0051 | 0 | c.744 others(5): Show |
CREB3L4 | ENSG00000143578.16 | transcript | ENST00000368607.8 | protein_coding | 6/9 | chr1 | TogoVar | ||||||
CREB3_chr9_35727666_35741999 | 35736222 | T | C | splice_region_variant others(1): Show |
LOW | HG01074.hp2 HG01243.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0002g0005 | 10 | 436 | 0.0229 | 0 | c.697 others(5): Show |
CREB3 | ENSG00000107175.12 | transcript | ENST00000353704.3 | protein_coding | 7/8 | chr9 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28494900 | C | T | splice_region_variant others(1): Show |
LOW | HG02129.hp1 HG02135.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0005a0001c0001t0005g0159a0001c0001t0006g0035others(5): Show | 8 | 198 | 0.0404 | 0 | c.76- others(4): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3745362 | G | A | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG00621.hp2 HG00642.hp2 others(74): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(38): Show | a0001c0001t0001g0173a0001c0001t0004g0041a0001c0001t0004g0240others(74): Show | 77 | 286 | 0.2692 | 0 | c.383 others(6): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3758051 | TA | T | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG00621.hp2 HG00642.hp2 others(69): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0173a0001c0001t0002g0060a0001c0001t0004g0041others(69): Show | 72 | 286 | 0.2518 | -1 | c.337 others(7): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 17/30 | chr16 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173123201 | C | T | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00738.hp2 HG01099.hp1 others(39): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(6): Show | a0001c0002t0003g0001a0001c0002t0003g0016a0001c0002t0003g0017others(39): Show | 42 | 292 | 0.1438 | 0 | c.180 others(4): Show |
p.Leu others(6): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/9 | 2122/7778 | 1803/1920 | 601/639 | chr5 | TogoVar | ||
CREG1_chr1_167536013_167558762 | 167548120 | T | C | missense_variant others(1): Show |
MODERATE | HG02895.hp1 HG02897.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0032 | 2 | 418 | 0.0048 | 0 | c.356 others(3): Show |
p.Glu others(6): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 2/4 | 377/1969 | 356/663 | 119/220 | chr1 | TogoVar | ||
CREG1_chr1_167536013_167558762 | 167548125 | T | C | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02055.hp2 HG02895.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0009a0002c0004t0001g0032 | 9 | 418 | 0.0215 | 0 | c.355 others(5): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
CRELD1_chr3_9928834_9950406 | 9943171 | C | T | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02258.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005a0001c0002t0001g0030a0001c0002t0001g0051others(1): Show | 10 | 402 | 0.0249 | 0 | c.912 others(3): Show |
p.Leu others(6): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 9/11 | 1018/2196 | 912/1263 | 304/420 | chr3 | TogoVar | ||
CRELD2_chr22_49913634_49932537 | 49921580 | T | C | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01109.hp2 HG01256.hp1 others(50): Show |
a0002a0012a0013 | a0002c0002a0002c0005a0002c0012others(4): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(7): Show | a0002c0002t0001g0011a0002c0002t0001g0012a0002c0002t0001g0013others(38): Show | 53 | 324 | 0.1636 | 0 | c.416 others(5): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 4/9 | chr22 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49921765 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(31): Show |
a0001a0005 | a0001c0003a0001c0007a0005c0008 | a0001c0003t0002a0001c0007t0002a0005c0008t0002 | a0001c0003t0002g0035a0001c0003t0002g0155a0001c0003t0002g0156others(30): Show | 34 | 324 | 0.1049 | 0 | c.592 others(5): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 5/9 | chr22 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49925555 | C | G | missense_variant others(1): Show |
MODERATE | NA19084.hp1 | a0009 | a0009c0022 | a0009c0022t0001 | a0009c0022t0001g0050 | 1 | 324 | 0.0031 | 0 | c.100 others(4): Show |
p.Ala others(6): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/10 | 1143/1428 | 1007/1062 | 336/353 | chr22 | TogoVar | ||
CRELD2_chr22_49913634_49932537 | 49925556 | T | C | splice_region_variant others(1): Show |
LOW | NA19084.hp1 | a0009 | a0009c0022 | a0009c0022t0001 | a0009c0022t0001g0050 | 1 | 324 | 0.0031 | 0 | c.100 others(4): Show |
p.Ala others(6): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/10 | 1144/1428 | 1008/1062 | 336/353 | chr22 | TogoVar | ||
CRELD2_chr22_49913634_49932537 | 49925557 | G | T | stop_gained others(1): Show |
HIGH | NA19084.hp1 | a0009 | a0009c0022 | a0009c0022t0001 | a0009c0022t0001g0050 | 1 | 324 | 0.0031 | 0 | c.100 others(4): Show |
p.Glu others(4): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/10 | 1145/1428 | 1009/1062 | 337/353 | chr22 | TogoVar | ||
CRHR1_chr17_45779320_45840828 | 45833134 | C | A | splice_region_variant others(1): Show |
LOW | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 301 | 0.0033 | 0 | c.771 others(5): Show |
CRHR1 | ENSG00000120088.16 | transcript | ENST00000314537.10 | protein_coding | 8/12 | chr17 | TogoVar | ||||||
CRHR2_chr7_30646942_30687456 | 30655713 | T | C | missense_variant others(1): Show |
MODERATE | HG02258.hp1 | a0013 | a0013c0015 | a0013c0015t0014 | a0013c0015t0014g0075 | 1 | 400 | 0.0025 | 0 | c.920 others(3): Show |
p.Lys others(6): Show |
CRHR2 | ENSG00000106113.19 | transcript | ENST00000471646.6 | protein_coding | 10/12 | 1096/2930 | 920/1236 | 307/411 | chr7 | TogoVar | ||
CRHR2_chr7_30646942_30687456 | 30655923 | A | T | splice_region_variant others(1): Show |
LOW | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 400 | 0.0025 | 0 | c.917 others(5): Show |
CRHR2 | ENSG00000106113.19 | transcript | ENST00000471646.6 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36441252 | T | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(116): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0259a0001c0001t0001g0282a0001c0001t0002g0144others(116): Show | 119 | 324 | 0.3673 | 0 | c.506 others(5): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 2/16 | chr2 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36479499 | C | G | missense_variant others(1): Show |
MODERATE | NA20905.hp2 | a0005 | a0005c0017 | a0005c0017t0006 | a0005c0017t0006g0128 | 1 | 324 | 0.0031 | 0 | c.117 others(4): Show |
p.Pro others(6): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 7/17 | 1692/6060 | 1177/3111 | 393/1036 | chr2 | TogoVar | ||
CRIM1_chr2_36350778_36556135 | 36509985 | G | A | missense_variant others(1): Show |
MODERATE | HG01099.hp2 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0166 | 1 | 324 | 0.0031 | 0 | c.150 others(4): Show |
p.Glu others(6): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 9/17 | 2019/6060 | 1504/3111 | 502/1036 | chr2 | TogoVar | ||
CRIP2_chr14_105469821_105485162 | 105479117 | C | T | splice_region_variant others(1): Show |
LOW | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 316 | 0.0032 | 0 | c.407 others(5): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 5/7 | chr14 | TogoVar |