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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD7_chr8_60673740_60873028 | 60714406 | GCCC | G | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01175.hp2 others(25): Show |
a0001a0004a0009others(3): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(25): Show | 28 | 236 | 0.1186 | -3 | c.-17 others(24): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60744478 | ATTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(93): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(93): Show | 96 | 236 | 0.4068 | -3 | c.166 others(22): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60745514 | CCTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(83): Show | 86 | 236 | 0.3644 | -3 | c.166 others(22): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60820256 | TTAA | T | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
a0001 | a0001c0002a0001c0032 | a0001c0002t0006a0001c0032t0028 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | 236 | 0.0127 | -3 | c.269 others(20): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60855035 | ATAG | A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0009 | a0002c0009t0013 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | 236 | 0.0085 | -3 | c.693 others(20): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD8_chr14_21380199_21461123 | 21441374 | CTGT | C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167a0001c0001t0002g0039a0001c0001t0002g0040others(1): Show | 4 | 260 | 0.0154 | -3 | c.-21 others(22): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21446305 | TTTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02818.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0003a0001c0005t0002a0001c0009t0001 | a0001c0001t0003g0163a0001c0001t0003g0198a0001c0001t0003g0217others(6): Show | 9 | 260 | 0.0346 | -3 | c.-21 others(22): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53044718 | GTAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(139): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(30): Show | a0001c0001t0002g0003a0001c0001t0002g0014a0001c0001t0002g0017others(94): Show | 142 | 406 | 0.3498 | -3 | c.-10 others(20): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53103159 | TTAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01433.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0043a0002c0002t0001g0095a0002c0002t0001g0126others(4): Show | 7 | 238 | 0.0294 | -3 | c.-16 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53223251 | CTTT | C | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02970.hp1 others(7): Show |
a0001a0002a0009 | a0001c0005a0002c0002a0009c0018 | a0001c0005t0005a0001c0005t0011a0002c0002t0001others(1): Show | a0001c0005t0005g0017a0001c0005t0005g0018a0001c0005t0005g0032others(7): Show | 10 | 238 | 0.0420 | -3 | c.189 others(20): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 4/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53230773 | TGAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(62): Show |
a0001a0002a0004others(1): Show | a0001c0005a0002c0002a0002c0019others(2): Show | a0001c0005t0004a0001c0005t0012a0001c0005t0018others(6): Show | a0001c0005t0004g0078a0001c0005t0004g0104a0001c0005t0004g0169others(62): Show | 65 | 238 | 0.2731 | -3 | c.228 others(20): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 8/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53310857 | CAAT | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02622.hp2 others(7): Show |
a0001a0008a0009 | a0001c0001a0001c0005a0008c0011others(1): Show | a0001c0001t0001a0001c0005t0005a0001c0005t0011others(2): Show | a0001c0001t0001g0178a0001c0005t0005g0017a0001c0005t0005g0018others(7): Show | 10 | 238 | 0.0420 | -3 | c.722 others(22): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 34/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53330433 | TAAC | T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02970.hp1 others(6): Show |
a0001a0009 | a0001c0005a0009c0018 | a0001c0005t0005a0001c0005t0011a0009c0018t0005 | a0001c0005t0005g0017a0001c0005t0005g0018a0001c0005t0005g0032others(6): Show | 9 | 238 | 0.0378 | -3 | c.*55 others(14): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2937 | chr16 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53813129 | ATTT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(206): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(79): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(170): Show | 209 | 392 | 0.5332 | -3 | c.*46 others(14): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 9/9 | 4645 | chr3 | TogoVar | |||||
CHDH_chr3_53807335_53851419 | 53816131 | ACGC | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(146): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(45): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(120): Show | 149 | 392 | 0.3801 | -3 | c.*16 others(14): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 9/9 | 1643 | chr3 | TogoVar | |||||
CHDH_chr3_53807335_53851419 | 53816840 | GTTT | G | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01069.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0010a0001c0001t0021a0001c0001t0077others(35): Show | a0001c0001t0010g0002a0001c0001t0010g0082a0001c0001t0010g0228others(57): Show | 71 | 392 | 0.1811 | -3 | c.*93 others(12): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 9/9 | 934 | chr3 | TogoVar | |||||
CHDH_chr3_53807335_53851419 | 53826644 | ACAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp2 others(107): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(63): Show | a0001c0001t0001g0204a0001c0001t0007g0276a0001c0001t0009g0106others(98): Show | 110 | 392 | 0.2806 | -3 | c.-59 others(20): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53838056 | CAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02258.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0010a0001c0001t0021a0001c0003t0160others(11): Show | a0001c0001t0010g0002a0001c0001t0010g0228a0001c0001t0021g0028others(17): Show | 26 | 392 | 0.0663 | -3 | c.-60 others(20): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
CHEK1_chr11_125620163_125662147 | 125631861 | CAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02145.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0006a0001c0001t0013others(1): Show | a0001c0001t0005g0008a0001c0001t0005g0044a0001c0001t0005g0045others(8): Show | 18 | 384 | 0.0469 | -3 | c.425 others(20): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CHEK1_chr11_125620163_125662147 | 125642034 | GTTC | G | intron_variant | MODIFIER | HG01074.hp2 HG02735.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0044a0001c0001t0005g0227a0001c0001t0005g0230others(2): Show | 6 | 384 | 0.0156 | -3 | c.815 others(20): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CHEK2_chr22_28682743_28746820 | 28717155 | GATC | G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0055others(25): Show | 28 | 384 | 0.0729 | -3 | c.683 others(20): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 5/14 | chr22 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132850266 | TATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00642.hp2 others(37): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0006a0001c0001t0012a0001c0001t0033others(16): Show | a0001c0001t0006g0126a0001c0001t0006g0132a0001c0001t0006g0134others(35): Show | 40 | 378 | 0.1058 | -3 | c.149 others(22): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 12/17 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132854248 | TCTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02559.hp1 others(8): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0009a0001c0001t0073a0001c0001t0074others(2): Show | a0001c0001t0009g0005a0001c0001t0009g0030a0001c0001t0009g0031others(7): Show | 11 | 378 | 0.0291 | -3 | c.123 others(20): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 10/17 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132858725 | TAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00738.hp1 others(33): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0152a0001c0001t0153others(4): Show | a0001c0001t0006g0145a0001c0001t0152g0154a0001c0001t0153g0155others(33): Show | 36 | 378 | 0.0952 | -3 | c.911 others(18): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132860365 | AAGT | A | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02559.hp1 others(8): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0009a0001c0001t0073a0001c0001t0074others(2): Show | a0001c0001t0009g0005a0001c0001t0009g0030a0001c0001t0009g0031others(7): Show | 11 | 378 | 0.0291 | -3 | c.751 others(20): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132864467 | TAGA | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00642.hp2 others(37): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0006a0001c0001t0012a0001c0001t0033others(16): Show | a0001c0001t0006g0126a0001c0001t0006g0132a0001c0001t0006g0134others(35): Show | 40 | 378 | 0.1058 | -3 | c.584 others(20): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 6/17 | chr12 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92931160 | CATA | C | intron_variant | MODIFIER | HG00597.hp2 NA18940.hp1 NA18944.hp2 others(11): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0007a0001c0005t0001g0077 | 14 | 447 | 0.0313 | -3 | c.356 others(16): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CHGA_chr14_92918150_92940285 | 92931578 | AGAG | A | disruptive_inframe_deletion | MODERATE | HG02717.hp1 HG02809.hp1 NA18971.hp1 others(1): Show |
a0007a0013a0014 | a0007c0013a0013c0030a0014c0031 | a0007c0013t0001a0013c0030t0001a0014c0031t0001 | a0007c0013t0001g0055a0007c0013t0001g0056a0013c0030t0001g0002others(1): Show | 4 | 447 | 0.0090 | -3 | c.707 others(10): Show |
p.Glu others(6): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 6/8 | 917/1985 | 707/1374 | 236/457 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
CHGA_chr14_92918150_92940285 | 92935365 | GTCC | G | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01081.hp1 HG01106.hp2 others(13): Show |
a0002a0024 | a0002c0007a0024c0032 | a0002c0007t0001a0024c0032t0001 | a0002c0007t0001g0009a0002c0007t0001g0017a0002c0007t0001g0032others(4): Show | 16 | 447 | 0.0358 | -3 | c.*48 others(12): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 81 | chr14 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5909824 | TTTC | T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(31): Show |
a0002a0004a0008others(2): Show | a0002c0002a0004c0004a0008c0008others(2): Show | a0002c0002t0002a0004c0004t0001a0008c0008t0001others(2): Show | a0002c0002t0002g0037a0002c0002t0002g0047a0002c0002t0002g0105others(14): Show | 34 | 440 | 0.0773 | -3 | c.-18 others(14): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 1685 | chr20 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5918148 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(124): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0016a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0016t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0014others(54): Show | 127 | 440 | 0.2886 | -3 | c.190 others(20): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHGB_chr20_5906510_5930353 | 5918810 | TAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0028a0001c0001t0001g0104others(35): Show | 91 | 440 | 0.2068 | -3 | c.190 others(20): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHGB_chr20_5906510_5930353 | 5929792 | ATTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(114): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0016a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0014others(46): Show | 117 | 440 | 0.2659 | -3 | c.*47 others(14): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 4440 | chr20 | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73584246 | ATTG | A | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02647.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0022 | a0001c0001t0003g0063a0001c0001t0003g0064a0001c0001t0003g0065others(14): Show | 17 | 208 | 0.0817 | -3 | c.352 others(18): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73589539 | ATGT | A | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01123.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0078a0001c0001t0002g0079a0001c0001t0002g0080others(24): Show | 27 | 208 | 0.1298 | -3 | c.507 others(20): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73600993 | TCAA | T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 208 | 0.0048 | -3 | c.507 others(22): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73627137 | CAAA | C | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02647.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0022 | a0001c0001t0003g0063a0001c0001t0003g0064a0001c0001t0003g0065others(13): Show | 16 | 208 | 0.0769 | -3 | c.507 others(22): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73658248 | GTTT | G | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010a0001c0001t0005g0011a0001c0001t0005g0012 | 3 | 208 | 0.0144 | -3 | c.508 others(22): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73670668 | ACTT | A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0159 | 1 | 208 | 0.0048 | -3 | c.508 others(20): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73688101 | TTCC | T | downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0038 | 1 | 208 | 0.0048 | -3 | c.*70 others(14): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 991 | chrX | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73688161 | TTAC | T | downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0038 | 1 | 208 | 0.0048 | -3 | c.*71 others(14): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 1051 | chrX | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73688780 | TCTG | T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG03130.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093a0001c0001t0002g0094a0001c0001t0002g0184 | 3 | 208 | 0.0144 | -3 | c.*77 others(14): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 1670 | chrX | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54016289 | TATA | T | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0021others(5): Show | 9 | 244 | 0.0369 | -3 | c.331 others(20): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54040703 | CAAA | C | intron_variant | MODIFIER | HG01255.hp1 HG02717.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0070others(4): Show | 9 | 244 | 0.0369 | -3 | c.330 others(20): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54060207 | ATCC | A | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037 | 3 | 244 | 0.0123 | -3 | c.119 others(20): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54060208 | TCCC | T | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02622.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0020others(12): Show | 17 | 244 | 0.0697 | -3 | c.119 others(20): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54065812 | AAGG | A | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02717.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0070others(3): Show | 8 | 244 | 0.0328 | -3 | c.-15 others(14): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 1208 | chr4 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 867605 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(242): Show | 278 | 386 | 0.7202 | -3 | c.*22 others(14): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 253 | chr11 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 891938 | CAAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00741.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0016others(30): Show | 42 | 386 | 0.1088 | -3 | c.701 others(20): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 894121 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(111): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(6): Show | a0001c0001t0001g0022a0001c0001t0001g0127a0001c0001t0001g0128others(94): Show | 114 | 386 | 0.2953 | -3 | c.609 others(18): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 7/12 | chr11 | TogoVar |