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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0256a0001c0001t0002g0214 | 2 | 342 | 0.0059 | 28 | c.195 others(45): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02083.hp2 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0187a0001c0001t0002g0219a0001c0001t0003g0173 | 3 | 342 | 0.0088 | 28 | c.195 others(45): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 342 | 0.0029 | 28 | c.195 others(45): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV2_chr7_116494738_116513541 | 116498910 | C | CCACACAC others(21): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | 28 | c.-87 others(37): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 827 | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116498923 | A | AACACACA others(21): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00621.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0040others(10): Show | 45 | 374 | 0.1203 | 28 | c.-85 others(37): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 814 | chr7 | TogoVar | ||||||
CAV3_chr3_8728802_8751758 | 8746799 | T | TCACACAC others(21): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0020 | 1 | 476 | 0.0021 | 28 | c.*93 others(37): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 42 | chr3 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42401668 | G | GGAAAGAA others(21): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0010 | a0001c0001t0003g0032a0001c0002t0010g0276 | 2 | 338 | 0.0059 | 28 | c.*30 others(39): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 780 | chr17 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33545439 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02273.hp1 HG02523.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0159a0001c0001t0001g0258a0001c0001t0001g0259others(7): Show | 10 | 298 | 0.0336 | 28 | c.34+ others(45): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33545470 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011 | a0001c0001t0001g0256a0001c0001t0007g0008a0001c0001t0007g0010others(3): Show | 6 | 298 | 0.0201 | 28 | c.34+ others(45): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02735.hp1 HG04199.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0021a0001c0003t0001 | a0001c0001t0001g0224a0001c0001t0001g0242a0001c0001t0001g0255others(3): Show | 6 | 298 | 0.0201 | 28 | c.510 others(45): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFB_chr16_67024149_67106058 | 67092698 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 212 | 0.0047 | 28 | c.496 others(45): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CBLC_chr19_44772890_44805652 | 44789099 | G | GGAGACCC others(21): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0110 | 1 | 344 | 0.0029 | 28 | c.918 others(43): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CBR3_chr21_36130079_36151562 | 36146917 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 424 | 0.0024 | 28 | c.*40 others(37): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 356 | chr21 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13926045 | C | CGTATATA others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(82): Show |
a0001a0002a0017others(1): Show | a0001c0001a0001c0002a0001c0032others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(66): Show | 85 | 370 | 0.2297 | 28 | c.194 others(45): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | chr19 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13926045 | C | CGTATATA others(21): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02027.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0037a0002c0007t0001g0088 | 2 | 370 | 0.0054 | 28 | c.194 others(45): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | chr19 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95926840 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0040 | 1 | 312 | 0.0032 | 28 | c.241 others(43): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 96025158 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 | 1 | 312 | 0.0032 | 28 | c.394 others(45): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 96029264 | A | ACATATAT others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03239.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0003a0006c0008t0003 | a0001c0001t0003g0028a0006c0008t0003g0060 | 2 | 312 | 0.0064 | 28 | c.412 others(47): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 34/34 | chr10 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59573284 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01496.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033a0001c0001t0061 | a0001c0001t0001g0242a0001c0001t0033g0080a0001c0001t0061g0054 | 3 | 242 | 0.0124 | 28 | c.213 others(47): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59595114 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0024 | a0001c0001t0003g0158a0001c0001t0006g0033a0001c0001t0024g0012 | 3 | 242 | 0.0124 | 28 | c.212 others(49): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 69009924 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG01123.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0091a0001c0001t0001g0207others(12): Show | 15 | 216 | 0.0694 | 28 | c.126 others(45): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC102B_chr18_68793080_69060189 | 69014978 | A | AGAGTGTG others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02135.hp1 NA19001.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0005others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0195a0001c0007t0001g0049a0001c0007t0001g0177others(3): Show | 6 | 216 | 0.0278 | 28 | c.143 others(47): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC105_chr19_15005726_15028276 | 15018715 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01934.hp1 HG02027.hp2 others(4): Show |
a0002a0006a0022 | a0002c0002a0006c0012a0022c0020 | a0002c0002t0001a0006c0012t0001a0022c0020t0001 | a0002c0002t0001g0025a0002c0002t0001g0244a0002c0002t0001g0279others(3): Show | 7 | 440 | 0.0159 | 28 | c.676 others(45): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CCDC113_chr16_58244936_58288836 | 58262787 | A | ATAGATAG others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0045others(49): Show | 54 | 378 | 0.1429 | 28 | c.783 others(43): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC122_chr13_43831352_43884740 | 43879040 | A | AAAAAAAG others(21): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0121 | 1 | 442 | 0.0023 | 28 | c.-20 others(45): Show |
CCDC122 | ENSG00000151773.13 | transcript | ENST00000444614.8 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
CCDC122_chr13_43831352_43884740 | 43879778 | T | TGGGCGAG others(21): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG01978.hp2 HG02004.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0031 | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0025others(9): Show | 29 | 442 | 0.0656 | 28 | c.-34 others(37): Show |
CCDC122 | ENSG00000151773.13 | transcript | ENST00000444614.8 | protein_coding | 39 | chr13 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 354 | 0.0028 | 28 | c.97- others(45): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18995.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035a0001c0001t0002g0256 | 2 | 354 | 0.0057 | 28 | c.97- others(45): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02015.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0241a0001c0001t0002g0253 | 2 | 354 | 0.0057 | 28 | c.97- others(45): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02074.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0240a0001c0001t0002g0260 | 2 | 354 | 0.0057 | 28 | c.97- others(45): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01952.hp2 NA18952.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0342a0001c0001t0002g0245a0001c0001t0002g0312 | 3 | 354 | 0.0085 | 28 | c.97- others(45): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 354 | 0.0028 | 28 | c.97- others(45): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 354 | 0.0028 | 28 | c.97- others(45): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CCDC138_chr2_108781771_108881578 | 108811247 | C | CTCTTTTT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01358.hp1 others(5): Show |
a0003a0007 | a0003c0003a0007c0014 | a0003c0003t0001a0007c0014t0001 | a0003c0003t0001g0135a0003c0003t0001g0138a0003c0003t0001g0143others(5): Show | 8 | 220 | 0.0364 | 28 | c.856 others(45): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC138_chr2_108781771_108881578 | 108831700 | T | TCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG03041.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0006a0002c0002others(2): Show | a0001c0004t0001a0001c0006t0001a0002c0002t0001others(2): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0107others(4): Show | 7 | 220 | 0.0318 | 28 | c.120 others(47): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC13_chr3_42700756_42778253 | 42743587 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01192.hp2 others(3): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0003a0005c0007t0003 | a0003c0003t0003g0007a0003c0003t0003g0029a0003c0003t0003g0030others(2): Show | 6 | 320 | 0.0188 | 28 | c.826 others(43): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CCDC13_chr3_42700756_42778253 | 42743600 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0081 | 1 | 320 | 0.0031 | 28 | c.826 others(43): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CCDC13_chr3_42700756_42778253 | 42743600 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03704.hp2 HG03710.hp2 |
a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0095a0003c0003t0011g0096 | 2 | 320 | 0.0063 | 28 | c.826 others(43): Show |
CCDC13 | ENSG00000244607.7 | transcript | ENST00000310232.11 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CCDC141_chr2_178824757_179055137 | 178981636 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0005 | a0005c0008 | a0005c0008t0017 | a0005c0008t0017g0114 | 1 | 274 | 0.0037 | 28 | c.226 others(45): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | ||||||
CCDC144A_chr17_16685241_16782881 | 16729963 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0311a0002c0002t0004g0312 | 2 | 318 | 0.0063 | 28 | c.210 others(47): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CCDC146_chr7_77117615_77300204 | 77236068 | C | CATAAATA others(21): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0187 | 1 | 248 | 0.0040 | 28 | c.157 others(43): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC146_chr7_77117615_77300204 | 77295947 | A | ATGTGTGT others(21): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0130 | 1 | 248 | 0.0040 | 28 | c.*10 others(39): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 744 | chr7 | TogoVar | ||||||
CCDC152_chr5_42751818_42807439 | 42755007 | C | CATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0066a0002c0002t0006g0067 | 2 | 348 | 0.0058 | 28 | c.-18 others(39): Show |
CCDC152 | ENSG00000198865.10 | transcript | ENST00000361970.10 | protein_coding | 1810 | chr5 | TogoVar | ||||||
CCDC166_chr8_143701694_143713109 | 143711639 | A | ACCACAGC others(21): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(396): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0004others(9): Show | a0001c0001t0000a0002c0002t0000a0002c0004t0000others(9): Show | a0001c0001t0000g0001a0001c0001t0000g0009a0001c0001t0000g0013others(11): Show | 399 | 423 | 0.9433 | 28 | c.-35 others(39): Show |
CCDC166 | ENSG00000255181.3 | transcript | ENST00000542437.1 | protein_coding | 3531 | chr8 | TogoVar | ||||||
CCDC169_chr13_36225775_36302814 | 36285603 | A | ATAGATAG others(21): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0039 | 1 | 364 | 0.0028 | 28 | c.164 others(45): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15623475 | G | GCGCGCGC others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0016 | a0016c0026 | a0016c0026t0024 | a0016c0026t0024g0075 | 1 | 266 | 0.0038 | 28 | c.822 others(41): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15623475 | G | GCGCGCGC others(21): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0019 | a0019c0018 | a0019c0018t0002 | a0019c0018t0002g0092 | 1 | 266 | 0.0038 | 28 | c.822 others(41): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15623475 | G | GCGCGCGC others(21): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02293.hp2 HG03927.hp2 |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0002a0003c0003t0002a0004c0004t0003 | a0002c0002t0002g0090a0003c0003t0002g0136a0004c0004t0003g0050 | 3 | 266 | 0.0113 | 28 | c.822 others(41): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15623475 | G | GCGCGCGC others(21): Show |
intron_variant | MODIFIER | HG02602.hp2 NA19005.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0003 | a0002c0002t0002g0120a0004c0004t0003g0026 | 2 | 266 | 0.0075 | 28 | c.822 others(41): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC171_chr9_15548043_15979037 | 15623475 | G | GCGCGCGC others(21): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18980.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0084a0002c0002t0002g0096 | 2 | 266 | 0.0075 | 28 | c.822 others(41): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |