Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
CLDN8_chr21_30209006_30221097	30210416	TATATATA others(44): Show TATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGT AC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-51	c.47 others(62): Show c.4781_*4831delGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3589		chr21	TogoVar
CLIC4_chr1_24740447_24849321	24799609	GCCCCCCG others(44): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCGGGGAGGGAGGTGGGGGGGGTCA GC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG03209.hp1 others(1): Show HG02622.hp2 HG02723.hp2 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0202 others(1): Show a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0202 a0001c0001t0002g0220	4	344	0.0116	-51	c.182 others(68): Show c.182+1785_182+1835delGGGGAGGGAGGTGGGGGGGGTCAGCCCC CCCGCCCGGCCAGCCGCCCCGTC		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLK1_chr2_200848009_200869658	200856339	GGATTACA others(44): Show GGATTACAGATGTGAGCCACCGCGCCCCACCCTTGGCCTCCCAAAGTGCT GA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	418	0.0024	-51	c.105 others(68): Show c.1057+292_1057+342delTCAGCACTTTGGGAGGCCAAGGGTGGGG CGCGGTGGCTCACATCTGTAATC		CLK1	ENSG00000013441.17	transcript	ENST00000321356.9	protein_coding	9/12						chr2	TogoVar
CLUL1_chr18_591988_655182	596803	TCCCGCCC others(44): Show TCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAG GC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(58): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18966.hp2 NA18975.hp1 NA18983.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp2 NA19070.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0007c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0187 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0371 a0001c0001t0001g0394 a0001c0001t0001g0396 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0070 a0001c0001t0007g0056 a0001c0001t0007g0057 a0007c0007t0001g0282	61	414	0.1473	-51	c.-46 others(60): Show c.-461_-411delCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCACCCG GCGTCACCTGCAGGC		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding					184		chr18	TogoVar
CLUL1_chr18_591988_655182	626908	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAA GG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	414	0.0024	-51	c.424 others(66): Show c.424-185_424-135delAAAGAAAGAAAGAAAGAAGGAAAGAAGGAA AGAAGGAAGGAAGGAAGGAAG		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNBD1_chr8_86861415_87387859	87271784	TATCAAAG others(44): Show TATCAAAGGGATATCCACACTCCTATGCTTATTGCAGCACTATTCACAGT AG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG02647.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0040 a0001c0006t0001g0098 a0001c0006t0001g0040 a0001c0006t0001g0098	2	152	0.0132	-51	c.772 others(70): Show c.772-12893_772-12843delATCAAAGGGATATCCACACTCCTATG CTTATTGCAGCACTATTCACAGTAG		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10						chr8	TogoVar
CNST_chr1_246561456_246673595	246620337	GCATACAC others(44): Show GCATACACACGATGGGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAG TC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0208 a0001c0001t0011g0208	1	320	0.0031	-51	c.380 others(68): Show c.380-1091_380-1041delCATACACACGATGGGCTCTGGGAACACT CTACAGGGAGGACGGCTTCAGTC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10						chr1	TogoVar
CNST_chr1_246561456_246673595	246620391	GCATACAC others(44): Show GCATACACACGATGGGCTCTGGGCACACTCTACAGGGAGGACGGCTTCAG TC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG02965.hp2 others(1): Show HG00642.hp1 HG00741.hp1 HG02965.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0307 a0001c0001t0002g0005 a0001c0001t0002g0276 others(1): Show a0001c0001t0001g0307 a0001c0001t0002g0005 a0001c0001t0002g0276 a0001c0001t0008g0176	4	320	0.0125	-51	c.380 others(67): Show c.380-1037_380-987delCATACACACGATGGGCTCTGGGCACACTC TACAGGGAGGACGGCTTCAGTC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10						chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	147575188	GTGTGTGT others(44): Show GTGTGTGTGTGTGTGTATTCCCTAGCTTTAGGAGTATGCATATGTGTGTG TT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG03239.hp2 others(4): Show HG02922.hp2 HG03139.hp2 HG03239.hp2 NA19030.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0001c0003t0023 a0001c0004t0005 a0001c0006t0009 a0001c0011t0016	a0001c0001t0001g0038 a0001c0001t0018g0001 a0001c0002t0002g0040 others(4): Show a0001c0001t0001g0038 a0001c0001t0018g0001 a0001c0002t0002g0040 a0001c0003t0023g0030 a0001c0004t0005g0004 a0001c0006t0009g0028 a0001c0011t0016g0019	7	40	0.1750	-51	c.189 others(72): Show c.1897+12947_1897+12997delATTCCCTAGCTTTAGGAGTATGCA TATGTGTGTGTTTGTGTGTGTGTGTGT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148283281	AAGAAAGA others(44): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAA AG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02630.hp2 HG02976.hp2 others(4): Show HG00735.hp2 HG02630.hp2 HG02976.hp2 HG03098.hp1 HG03225.hp1 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0019	a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0020 a0001c0009t0019 a0001c0019t0006	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0002t0002g0013 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0002t0002g0013 a0001c0002t0010g0002 a0001c0003t0020g0017 a0001c0009t0019g0027 a0001c0019t0006g0015	7	40	0.1750	-51	c.347 others(72): Show c.3475+16157_3475+16207delGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGGAAAGAAAGAAAGA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030764	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGATGTGTGCGAGAGAGAGAGAGAGAGAGAG GA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG03486.hp1 others(1): Show HG02109.hp1 HG02622.hp1 HG03486.hp1 NA19030.hp1	a0007 a0017 a0007 a0017	a0007c0009 a0007c0016 a0017c0014 a0007c0009 a0007c0016 a0017c0014	a0007c0009t0023 a0007c0009t0025 a0007c0016t0001 others(1): Show a0007c0009t0023 a0007c0009t0025 a0007c0016t0001 a0017c0014t0001	a0007c0009t0023g0039 a0007c0009t0025g0037 a0007c0016t0001g0036 others(1): Show a0007c0009t0023g0039 a0007c0009t0025g0037 a0007c0016t0001g0036 a0017c0014t0001g0038	4	108	0.0370	-51	c.391 others(70): Show c.391-17290_391-17240delTCCTCTCTCTCTCTCTCTCTCTCGCA CACATCTCTCTCTCTCTCTCTCTCT		CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23						chr9	TogoVar
CNTNAP5_chr2_124020287_124926219	124804980	GTTAAAAA others(44): Show GTTAAAAATTAATACTCCTCTTTGTATGAAATACTCTTTGTATGAAATAC TC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	64	0.0156	-51	c.321 others(70): Show c.3217+6696_3217+6746delTTTGTATGAAATACTCTTAAAAATTA ATACTCCTCTTTGTATGAAATACTC		CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL18A1_chr21_45400165_45518720	45490015	CACACCCT others(44): Show CACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACTCCCCC CG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp2 HG02572.hp1 others(12): Show HG00544.hp1 HG00733.hp2 HG02572.hp1 HG02683.hp1 HG02922.hp2 NA18944.hp1 NA18964.hp2 NA18969.hp1 NA18975.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp2 NA19010.hp2 NA19088.hp2 NA20905.hp2	a0001 a0003 a0026 a0001 a0003 a0026	a0001c0038 a0003c0009 a0003c0010 others(4): Show a0001c0038 a0003c0009 a0003c0010 a0003c0015 a0003c0045 a0003c0046 a0026c0044	a0001c0038t0004 a0003c0009t0001 a0003c0010t0002 others(5): Show a0001c0038t0004 a0003c0009t0001 a0003c0010t0002 a0003c0010t0006 a0003c0015t0001 a0003c0045t0006 a0003c0046t0001 a0026c0044t0001	a0001c0038t0004g0028 a0003c0009t0001g0054 a0003c0009t0001g0167 others(12): Show a0001c0038t0004g0028 a0003c0009t0001g0054 a0003c0009t0001g0167 a0003c0009t0001g0171 a0003c0009t0001g0247 a0003c0010t0002g0068 a0003c0010t0002g0151 a0003c0010t0002g0172 a0003c0010t0006g0014 a0003c0015t0001g0168 a0003c0015t0001g0189 a0003c0015t0001g0202 a0003c0045t0006g0242 a0003c0046t0001g0002 a0026c0044t0001g0037	15	292	0.0514	-51	c.196 others(68): Show c.1960-257_1960-207delACCCTCCCCCACTTCCCCGTCCCCCACA CCTCCTCCCCCACTCCCCCCGAC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL26A1_chr7_101357875_101564024	101401530	GAAGGAGG others(44): Show GAAGGAGGAGGAAGAGGAAGAGTAGGAGGAAGAAGAGAAAGAGGAGGAGG AA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18942.hp1 NA18984.hp1 HG02040.hp2 NA18942.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051	3	174	0.0172	-51	c.159 others(70): Show c.159-18410_159-18360delAAAGAGGAGGAGGAAAAGGAGGAGGA AGAGGAAGAGTAGGAGGAAGAAGAG		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(44): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTT TC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02896.hp2 NA20129.hp2 others(1): Show HG01070.hp2 HG02896.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0005c0015	a0001c0001t0002 a0001c0002t0006 a0002c0004t0030 others(1): Show a0001c0001t0002 a0001c0002t0006 a0002c0004t0030 a0005c0015t0013	a0001c0001t0002g0174 a0001c0002t0006g0010 a0002c0004t0030g0170 others(1): Show a0001c0001t0002g0174 a0001c0002t0006g0010 a0002c0004t0030g0170 a0005c0015t0013g0036	4	174	0.0230	-51	c.385 others(70): Show c.385+41926_385+41976delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCTTTCT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489870	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TG	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0025 a0002c0003t0025	a0002c0003t0025g0126 a0002c0003t0025g0126	1	174	0.0058	-51	c.385 others(70): Show c.385+42085_385+42135delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTGT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL6A1_chr21_45976770_46010048	45977769	AGGAGAGA others(44): Show AGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAG GG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG04228.hp1 NA19067.hp2 others(1): Show HG01258.hp2 HG04228.hp1 NA19067.hp2 NA19088.hp2	a0001 a0009 a0018 a0001 a0009 a0018	a0001c0003 a0009c0014 a0018c0031 a0001c0003 a0009c0014 a0018c0031	a0001c0003t0003 a0001c0003t0006 a0009c0014t0002 others(1): Show a0001c0003t0003 a0001c0003t0006 a0009c0014t0002 a0018c0031t0013	a0001c0003t0003g0036 a0001c0003t0006g0005 a0009c0014t0002g0087 others(1): Show a0001c0003t0003g0036 a0001c0003t0006g0005 a0009c0014t0002g0087 a0018c0031t0013g0029	4	128	0.0313	-51	c.-40 others(62): Show c.-4081_-4031delGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGG GGAGAGAGGAGGGAGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					4000		chr21	TogoVar
CPEB4_chr5_173883349_173966980	173960957	AGGATTTA others(44): Show AGGATTTATTATAACAAAATATAACACTGAGAATATCCTGTTTTGTCAGA TT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0065 a0001c0001t0039g0065	1	372	0.0027	-51	c.48 others(62): Show c.4821_*4871delGGATTTATTATAACAAAATATAACACTGAGAATA TCCTGTTTTGTCAGATT		CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	10/10				4821		chr5	TogoVar
CRK_chr17_1415693_1461232	1455622	TGGGGCCG others(44): Show TGGGGCCGAAGCAGTTCCCCTTCCCCGCGGCTGCCCTCCCCAGGCACACC CC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18990.hp1 HG01346.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0133 a0001c0001t0002g0134	2	404	0.0050	-51	c.241 others(66): Show c.241+204_241+254delGGGGTGTGCCTGGGGAGGGCAGCCGCGGGG AAGGGGAACTGCTTCGGCCCC		CRK	ENSG00000167193.8	transcript	ENST00000300574.3	protein_coding	1/2						chr17	TogoVar
CROCC2_chr2_240901336_240998311	240924221	CCCCCACA others(44): Show CCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCC AG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0201 a0015c0016t0001g0201	1	350	0.0029	-51	c.489 others(68): Show c.489-1498_489-1448delACACTGACCCGGCCCCCACACTAACCCG GCCCCCCACACTAACCCAGCCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CRYBG2_chr1_26316865_26359130	26345014	AACCTCTT others(44): Show AACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCA CG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(173): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA19001.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0006 others(13): Show a0002 a0003 a0006 a0007 a0011 a0016 a0017 a0018 a0019 a0025 a0030 a0031 a0032 a0033 a0034 a0035	a0002c0002 a0003c0003 a0003c0015 others(20): Show a0002c0002 a0003c0003 a0003c0015 a0003c0032 a0003c0034 a0003c0039 a0003c0042 a0006c0008 a0006c0018 a0007c0006 a0011c0012 a0016c0020 a0017c0031 a0017c0036 a0018c0019 a0019c0021 a0025c0029 a0030c0041 a0031c0035 a0032c0037 a0033c0038 a0034c0040 a0035c0033	a0002c0002t0001 a0002c0002t0005 a0003c0003t0001 others(22): Show a0002c0002t0001 a0002c0002t0005 a0003c0003t0001 a0003c0003t0002 a0003c0015t0001 a0003c0032t0001 a0003c0034t0001 a0003c0039t0002 a0003c0042t0001 a0006c0008t0001 a0006c0018t0001 a0007c0006t0001 a0011c0012t0001 a0016c0020t0002 a0017c0031t0001 a0017c0036t0001 a0018c0019t0002 a0019c0021t0001 a0025c0029t0001 a0030c0041t0001 a0031c0035t0001 a0032c0037t0001 a0033c0038t0002 a0034c0040t0002 a0035c0033t0001	a0002c0002t0001g0002 a0002c0002t0001g0015 a0002c0002t0001g0016 others(156): Show a0002c0002t0001g0002 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0119 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0194 a0002c0002t0001g0267 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0005g0060 a0003c0003t0001g0024 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0041 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0193 a0003c0003t0001g0198 a0003c0003t0001g0237 a0003c0003t0001g0240 a0003c0003t0001g0253 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0299 a0003c0003t0001g0310 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0002g0121 a0003c0003t0002g0195 a0003c0003t0002g0233 a0003c0003t0002g0236 a0003c0003t0002g0241 a0003c0003t0002g0242 a0003c0003t0002g0246 a0003c0003t0002g0247 a0003c0003t0002g0250 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0255 a0003c0003t0002g0257 a0003c0003t0002g0270 a0003c0003t0002g0275 a0003c0003t0002g0319 a0003c0003t0002g0320 a0003c0015t0001g0031 a0003c0015t0001g0199 a0003c0015t0001g0200 a0003c0032t0001g0229 a0003c0034t0001g0040 a0003c0039t0002g0316 a0003c0042t0001g0228 a0006c0008t0001g0008 a0006c0008t0001g0037 a0006c0008t0001g0042 a0006c0008t0001g0043 a0006c0008t0001g0044 a0006c0008t0001g0192 a0006c0008t0001g0248 a0006c0018t0001g0227 a0006c0018t0001g0234 a0007c0006t0001g0004 a0007c0006t0001g0023 a0007c0006t0001g0204 a0007c0006t0001g0261 a0007c0006t0001g0262 a0007c0006t0001g0263 a0011c0012t0001g0056 a0011c0012t0001g0059 a0011c0012t0001g0224 a0011c0012t0001g0225 a0016c0020t0002g0033 a0016c0020t0002g0266 a0017c0031t0001g0137 a0017c0036t0001g0175 a0018c0019t0002g0238 a0018c0019t0002g0239 a0019c0021t0001g0025 a0025c0029t0001g0321 a0030c0041t0001g0181 a0031c0035t0001g0139 a0032c0037t0001g0235 a0033c0038t0002g0254 a0034c0040t0002g0322 a0035c0033t0001g0303	176	376	0.4681	-51	c.159 others(60): Show c.1593_1643delCGTGAAGGGCCCCGGTGCTCCTGATGCCTCATTTCC CACCTGGAAAGAGGT	p.Val others(13): Show p.Val532_Val548del	CRYBG2	ENSG00000176092.17	transcript	ENST00000308182.10	protein_coding	2/20	1793/5239	1593/4986	531/1661			chr1	TogoVar
CRYL1_chr13_20398669_20530857	20497405	CACACACA others(44): Show CACACACACAACTACACACACACCACCATACACACAACTACACACACCAC AT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00609.hp1 others(49): Show HG00099.hp2 HG00140.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18943.hp2 NA18945.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18963.hp2 NA18968.hp2 NA18971.hp1 NA18981.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19062.hp1 NA19066.hp2 NA19081.hp2 NA19084.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 others(49): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0202 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0055 a0001c0001t0002g0066 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0004g0109 a0001c0002t0001g0117 a0001c0002t0001g0148 a0001c0002t0001g0189 a0001c0002t0002g0176 a0001c0003t0001g0005 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0022 a0001c0003t0001g0028 a0001c0003t0002g0010 a0001c0003t0002g0011 a0001c0003t0002g0026 a0001c0003t0002g0029 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0004t0001g0032	52	250	0.2080	-51	c.150 others(68): Show c.150-7960_150-7910delATGTGGTGTGTGTAGTTGTGTGTATGGT GGTGTGTGTGTAGTTGTGTGTGT		CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7						chr13	TogoVar
CSF2RA_chrX_1263814_1314935	1291250	TCCTCCCT others(44): Show TCCTCCCTGCCTTTCTGCCTTTCTTCTTTTTTCTTCCTTCCTTCCTTCCT TC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG01123.hp2 others(4): Show HG00140.hp1 HG00423.hp2 HG01123.hp2 HG01358.hp1 HG01496.hp2 HG03927.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0002g0036 a0001c0001t0003g0093 a0001c0001t0003g0133 others(4): Show a0001c0001t0002g0036 a0001c0001t0003g0093 a0001c0001t0003g0133 a0001c0001t0003g0148 a0001c0001t0004g0049 a0001c0001t0004g0072 a0001c0002t0003g0122	7	159	0.0440	-51	c.646 others(66): Show c.646+749_646+799delGCCTTTCTGCCTTTCTTCTTTTTTCTTCCT TCCTTCCTTCCTTCCCTCCCT		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	7/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	4920887	AAAAGAAA others(44): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAA AG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG02055.hp2 HG02723.hp2	a0003 a0005 a0003 a0005	a0003c0057 a0005c0065 a0003c0057 a0005c0065	a0003c0057t0080 a0005c0065t0023 a0003c0057t0080 a0005c0065t0023	a0003c0057t0080g0075 a0005c0065t0023g0050 a0003c0057t0080g0075 a0005c0065t0023g0050	2	126	0.0159	-51	c.85+ others(68): Show c.85+73394_85+73444delCTTTCTCTCTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542637	TATGTATA others(44): Show TATGTATATATATATATATATATATATATATATATGTATATATATATATA TA	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA19086.hp1 NA18978.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0030 a0001c0001t0001 a0001c0003t0030	a0001c0001t0001g0081 a0001c0003t0030g0007 a0001c0001t0001g0081 a0001c0003t0030g0007	2	390	0.0051	-51	c.230 others(68): Show c.230+7387_230+7437delTATATATATATATATACATATATATATA TATATATATATATATATATACAT		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542639	TGTATATA others(44): Show TGTATATATATATATATATATATATATATATATGTATATATATATATATA TA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0124 a0001c0001t0008g0124	1	390	0.0026	-51	c.230 others(68): Show c.230+7385_230+7435delTATATATATATATATATACATATATATA TATATATATATATATATATATAC		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542642	ATATATAT others(44): Show ATATATATATATATATATATATATATATATGTATATATATATATATATAT AT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19079.hp2 NA20300.hp2 HG01981.hp1 NA19079.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	3	390	0.0077	-51	c.230 others(68): Show c.230+7382_230+7432delATATATATATATATATATATACATATAT ATATATATATATATATATATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CYB5R2_chr11_7660104_7678500	7676035	TCGTACAT others(44): Show TCGTACATAGTGAACTGTAACCTACTCTTGTATCAATCATGGAAGTTTCA GC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	444	0.0023	-51	c.-27 others(62): Show c.-2734_-2684delGCTGAAACTTCCATGATTGATACAAGAGTAGGTT ACAGTTCACTATGTACG		CYB5R2	ENSG00000166394.15	transcript	ENST00000299498.11	protein_coding					2536		chr11	TogoVar
CYP27C1_chr2_127178832_127225299	127204468	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGG AA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	352	0.0028	-51	c.474 others(66): Show c.474-948_474-898delTTCCTTCTTTCTTTCCTTCCTTCCTTCCTT CCTTTCTTTCTTTCTTTCTTT		CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8						chr2	TogoVar
CYP2C9_chr10_94933658_94995091	94954059	GAAGTTGG others(44): Show GAAGTTGGAAACTGAGTACTCACTGATACAGAAATTAAGTAGAAATTACT TA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	374	0.0027	-51	c.819 others(68): Show c.819+4776_819+4826delAAGTTGGAAACTGAGTACTCACTGATAC AGAAATTAAGTAGAAATTACTTA		CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding	5/8						chr10	TogoVar
CYP4F12_chr19_15668087_15702174	15678720	CTGCTGGG others(44): Show CTGCTGGGGCAGGCTGGAATGTTTCCTGGAGGAAGAGTTGTTGGAGCTAT GT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0204 a0013c0015t0001g0204	1	410	0.0024	-51	c.343 others(66): Show c.343+316_343+366delTGCTGGGGCAGGCTGGAATGTTTCCTGGAG GAAGAGTTGTTGGAGCTATGT		CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	3/12						chr19	TogoVar
CYP7B1_chr8_64585851_64803737	64686483	GCCCCGTC others(44): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGC CA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02486.hp2 others(15): Show HG01243.hp1 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG02818.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0025 others(4): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0025 a0001c0001t0036 a0001c0001t0042 a0001c0001t0046 a0001c0001t0058	a0001c0001t0005g0066 a0001c0001t0005g0084 a0001c0001t0005g0085 others(15): Show a0001c0001t0005g0066 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0025g0100 a0001c0001t0025g0195 a0001c0001t0036g0101 a0001c0001t0042g0094 a0001c0001t0046g0019 a0001c0001t0058g0099	18	258	0.0698	-51	c.123 others(70): Show c.123-61995_123-61945delTGGCTGGCCGGGCAGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGG		CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5						chr8	TogoVar
CYTH3_chr7_6156779_6277624	6259762	TATATATA others(44): Show TATATATATATTATATATATATAATATATATATATATATATATATATATA TA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	348	0.0029	-51	c.34+ others(68): Show c.34+12661_34+12711delTATATATATATATATATATATATATATA TTATATATATATAATATATATAT		CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12						chr7	TogoVar
DACH1_chr13_71432966_71872204	71735345	TGTATATG others(44): Show TGTATATGGGATATACACGTATACGGGATATACGTGTATATGGGATATAC AC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	102	0.0098	-51	c.849 others(70): Show c.849-53486_849-53436delGTGTATATCCCATATACACGTATATC CCGTATACGTGTATATCCCATATAC		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DACT2_chr6_168301904_168324777	168321862	TCTCCTTC others(44): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA19030.hp1 HG04228.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0011 a0004c0006 a0001c0011 a0004c0006	a0001c0011t0002 a0004c0006t0003 a0001c0011t0002 a0004c0006t0003	a0001c0011t0002g0140 a0004c0006t0003g0137 a0001c0011t0002g0140 a0004c0006t0003g0137	2	476	0.0042	-51	c.-22 others(62): Show c.-2280_-2230delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAG		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding					2086		chr6	TogoVar
DAPK1_chr9_87492867_87713634	87644456	AAGCTCCC others(44): Show AAGCTCCCCTTTTTTCTCCTTAAGTTAGTAGCTTCACTGAGGCTTCACAT CT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19012.hp1 NA18950.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0182 a0001c0002t0011g0077 a0001c0002t0001g0182 a0001c0002t0011g0077	2	236	0.0085	-51	c.101 others(69): Show c.1011+992_1011+1042delTCCCCTTTTTTCTCCTTAAGTTAGTAG CTTCACTGAGGCTTCACATCTAGC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DCC_chr18_52335197_53540899	52905140	TATGCATG others(44): Show TATGCATGCTTATGCTTGTATGTAATGGCCAGTTTATTTGTTTTATTTTT TC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02970.hp2 HG01192.hp2 HG02970.hp2	a0002 a0002	a0002c0012 a0002c0018 a0002c0012 a0002c0018	a0002c0012t0011 a0002c0018t0004 a0002c0012t0011 a0002c0018t0004	a0002c0012t0011g0037 a0002c0018t0004g0071 a0002c0012t0011g0037 a0002c0018t0004g0071	2	114	0.0175	-51	c.413 others(66): Show c.413-865_413-815delGTTTTATTTTTTCATGCATGCTTATGCTTG TATGTAATGGCCAGTTTATTT		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCUN1D2_chr13_113450819_113495711	113471209	AGACCCAA others(44): Show AGACCCAACTCCACAGGGGACCCAACTCCACAGAAGACCCAACTTCACAA GG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0147 a0001c0001t0037g0147	1	364	0.0028	-51	c.520 others(68): Show c.520+2864_520+2914delCCTTGTGAAGTTGGGTCTTCTGTGGAGT TGGGTCCCCTGTGGAGTTGGGTC		DCUN1D2	ENSG00000150401.15	transcript	ENST00000478244.6	protein_coding	4/6						chr13	TogoVar
DGKD_chr2_233349494_233477098	233463456	CCACGCAT others(44): Show CCACGCATGTCCTCACTGCACGCATGTCCTCACTGCACGCATGTCCTCAC TG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0204 a0001c0004t0048g0204	1	336	0.0030	-51	c.318 others(68): Show c.3187-691_3187-641delGCACGCATGTCCTCACTGCACGCATGTC CTCACTGCACGCATGTCCTCACT		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233470792	GGCCGTGG others(44): Show GGCCGTGGCTTCTCTTTGGCTCCCAAAGAGAAGGACAGTGTTGGGAGTAT CT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01109.hp1 others(9): Show HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01975.hp2 HG01978.hp2 HG03017.hp1 HG03453.hp2 HG03486.hp1 NA18522.hp2 NA18612.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017	a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0170 others(9): Show a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0170 a0001c0001t0010g0171 a0001c0001t0010g0172 a0001c0001t0011g0264 a0001c0001t0011g0278 a0001c0001t0011g0291 a0001c0001t0011g0292 a0001c0001t0011g0293 a0001c0001t0017g0054 a0001c0001t0017g0071	12	336	0.0357	-51	c.13 others(62): Show c.1388_*1438delTGGCTTCTCTTTGGCTCCCAAAGAGAAGGACAGT GTTGGGAGTATCTGCCG		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	30/30				1388	INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKI_chr7_137376037_137851974	137517252	AAAAGAAA others(44): Show AAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAGAAAGAAAGAAAGAAAGAA AG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03654.hp1 HG02622.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0030 a0001c0007t0003 a0001c0003t0030 a0001c0007t0003	a0001c0003t0030g0057 a0001c0007t0003g0088 a0001c0003t0030g0057 a0001c0007t0003g0088	2	94	0.0213	-51	c.224 others(70): Show c.2248+4563_2248+4613delCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTTCTTTCTTTCTTTCTTTCTTT		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	21/32						chr7	TogoVar
DHRS12_chr13_51762993_51809163	51775966	AGTATTCT others(44): Show AGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTAC AT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02896.hp2 others(1): Show HG02257.hp2 HG02258.hp2 HG02896.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0177 a0001c0001t0004g0021	4	420	0.0095	-51	c.363 others(68): Show c.363+1043_363+1093delATGTAGGAGAATACTGTAGAATACATGT AGGAGAATACTGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRSX_chrX_2214506_2505976	2228157	AGGGAGGG others(44): Show AGGGAGGGGGGAAGGGAGGGAGGGAGGGGGGAAGGGGGGAAGGGAGGGAG GG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	50	0.0200	-51	c.805 others(68): Show c.805-6979_805-6929delCCCTCCCTCCCTTCCCCCCTTCCCCCCT CCCTCCCTCCCTTCCCCCCTCCC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2228363	GGGAGGGA others(44): Show GGGAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGGAGGGAGG GA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	50	0.0200	-51	c.805 others(68): Show c.805-7185_805-7135delTCCCTCCCTCCCTTCCTCCCTCCCTCCC TTCATTCCTCCCTCCCTCCCTCC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2228375	GGGAGGAA others(44): Show GGGAGGAATGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGG AA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01928.hp1 HG01934.hp1 others(9): Show HG00673.hp1 HG01928.hp1 HG01934.hp1 HG03491.hp2 HG03710.hp1 HG04204.hp1 NA18747.hp1 NA18943.hp1 NA18952.hp2 NA18966.hp1 NA19005.hp1 NA19079.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0012 a0004c0004 a0001c0001 a0001c0012 a0004c0004	a0001c0001t0001 a0001c0012t0010 a0004c0004t0001 a0001c0001t0001 a0001c0012t0010 a0004c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0012t0010g0015 a0004c0004t0001g0048	12	50	0.2400	-51	c.805 others(68): Show c.805-7197_805-7147delTTCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTTCATTCCTCC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DIP2C_chr10_269201_694668	584735	CATCACCT others(44): Show CATCACCTCTCAGATAATCTCGGGGCCCACAACCTGGCCCCCACTCACGC GT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	88	0.0114	-51	c.86- others(68): Show c.86-98256_86-98206delACGCGTGAGTGGGGGCCAGGTTGTGGGC CCCGAGATTATCTGAGAGGTGAT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	608226	CCCCCACA others(44): Show CCCCCACAGCCCCCCCCACACACACCCCCACAGCCCCCCACACACAGCCC CT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	88	0.0114	-51	c.85+ others(68): Show c.85+81217_85+81267delAGGGGCTGTGTGTGGGGGGCTGTGGGGG TGTGTGTGGGGGGGGCTGTGGGG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978633	TATATATC others(44): Show TATATATCTATATATATATATATATATCTATATATAGATATATATATATC TA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	408	0.0025	-51	c.657 others(68): Show c.657+5645_657+5695delATATATCTATATATATATATATATATCT ATATATAGATATATATATATCTA		DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2						chr3	TogoVar
DIS3L2_chr2_231956713_232342192	232333159	TCTCCTCC others(44): Show TCTCCTCCTCCGCTGTCGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0222 a0002c0011t0002g0222	1	304	0.0033	-51	c.201 others(68): Show c.2011-634_2011-584delTCCTCCTCCTCCTCCGCTGTCGCCTCCT CCTCCTCCTCCTCCTCCTCCTCC		DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
DLEC1_chr3_38034208_38129025	38083563	CAAGGACC others(44): Show CAAGGACCAGCCATTTACACTTCTTTTGTGGTGGAATGTCATCAGTTAAG GT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01358.hp1 HG01928.hp1 others(4): Show HG01070.hp1 HG01358.hp1 HG01928.hp1 HG01952.hp2 HG02293.hp1 HG02300.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0248 a0001c0002t0001g0264 others(3): Show a0001c0002t0001g0006 a0001c0002t0001g0248 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0289	7	298	0.0235	-51	c.117 others(68): Show c.1174-594_1174-544delAAGGACCAGCCATTTACACTTCTTTTGT GGTGGAATGTCATCAGTTAAGGT		DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	6/36						chr3	TogoVar

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