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 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(41): Show CGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 NA19043.hp1 others(1): Show HG02258.hp1 HG02717.hp2 NA19043.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0012 a0003c0024 a0004c0005 others(1): Show a0001c0012 a0003c0024 a0004c0005 a0006c0017	a0001c0012t0001 a0003c0024t0040 a0004c0005t0001 others(1): Show a0001c0012t0001 a0003c0024t0040 a0004c0005t0001 a0006c0017t0041	a0001c0012t0001g0172 a0003c0024t0040g0166 a0004c0005t0001g0158 others(1): Show a0001c0012t0001g0172 a0003c0024t0040g0166 a0004c0005t0001g0158 a0006c0017t0041g0090	4	236	0.0170	48	c.-77 others(67): Show c.-77+16356_-77+16357insCAGGACGTGCCTGCTCGTGGTGCCCA GGACGTGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(41): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02129.hp2 HG02559.hp2 others(3): Show HG01928.hp1 HG02129.hp2 HG02559.hp2 HG02572.hp1 NA18962.hp2 NA19012.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0001c0013 others(2): Show a0001c0001 a0001c0008 a0001c0013 a0002c0006 a0003c0007	a0001c0001t0001 a0001c0008t0019 a0001c0013t0004 others(3): Show a0001c0001t0001 a0001c0008t0019 a0001c0013t0004 a0001c0013t0010 a0002c0006t0014 a0003c0007t0009	a0001c0001t0001g0206 a0001c0008t0019g0038 a0001c0013t0004g0104 others(3): Show a0001c0001t0001g0206 a0001c0008t0019g0038 a0001c0013t0004g0104 a0001c0013t0010g0093 a0002c0006t0014g0198 a0003c0007t0009g0176	6	236	0.0254	48	c.-77 others(67): Show c.-77+16309_-77+16356dupCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744362	T T	TGTCCTGG others(41): Show TGTCCTGGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0041 a0001c0001t0031g0041	1	236	0.0042	48	c.-77 others(67): Show c.-77+16338_-77+16339insGTGCCTGCTCGTGGTGCCCAGGACGT GCCTGCTCGTGGTGCCCAGGAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744506	T T	TGTCCTGG others(41): Show TGTCCTGGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0205 a0001c0004t0001g0205	1	236	0.0042	48	c.-77 others(67): Show c.-77+16194_-77+16195insGTGCCTGCTCGTGGTGCCCAGGACGT GCCTGCTCGTGGTGCCCAGGAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10785135	T T	TCCTTCCT others(41): Show TCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	236	0.0042	48	c.-23 others(69): Show c.-234+11428_-234+11429insGAGGGAGGAAGGGAGGGAGGAAGG AAGGGAGGAAGGAAGGAAGGAAGG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG01074.hp1 others(23): Show HG00280.hp1 HG00597.hp2 HG01074.hp1 HG01123.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01516.hp1 HG01981.hp1 HG02145.hp2 HG03195.hp1 HG03654.hp2 HG03669.hp2 HG04204.hp2 NA18939.hp2 NA18954.hp1 NA18961.hp2 NA18970.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp2 NA19007.hp1 NA19079.hp2 NA19081.hp1 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0015 others(4): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0003c0004 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0015t0002 a0002c0002t0002 a0002c0002t0007 a0003c0004t0001 a0003c0006t0001 a0004c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0161 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0161 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0038 a0001c0001t0002g0141 a0001c0001t0002g0156 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0003t0001g0078 a0001c0003t0002g0077 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0157 a0001c0015t0002g0043 a0002c0002t0002g0039 a0002c0002t0007g0017 a0003c0004t0001g0009 a0003c0004t0001g0058 a0003c0006t0001g0009 a0004c0005t0002g0022	26	398	0.0653	48	c.39 others(59): Show c.3939_*3940insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5733307	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0023 a0001c0034t0001g0023	1	336	0.0030	48	c.277 others(63): Show c.277-521_277-520insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88963253	A A	ATCTTCTG others(41): Show ATCTTCTGCCAGGGGTGGGCGCTCGTCTTCTGCCAGGGGTGGGCGCTCG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19005.hp2 NA19088.hp1 NA19004.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0204 a0001c0003t0004g0199 a0001c0003t0004g0200 a0001c0003t0001g0204 a0001c0003t0004g0199 a0001c0003t0004g0200	3	284	0.0106	48	c.151 others(67): Show c.151+13403_151+13404insCGAGCGCCCACCCCTGGCAGAAGACG AGCGCCCACCCCTGGCAGAAGA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBX4_chr17_79828156_79844440	79829106	C C	CAATGTTA others(41): Show CAATGTTAACTGTTATCATTTACTGCAAAGGGAAGAGAGGAGCAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	420	0.0024	48	c.48 others(59): Show c.4852_*4853insCCTCCTGCTCCTCTCTTCCCTTTGCAGTAAATGA TAACAGTTAACATT	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding		4049		chr17	TogoVar
CBY2_chr13_45697320_45719559	45714571	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0004 a0005c0010t0004	a0005c0010t0004g0087 a0005c0010t0004g0087	1	440	0.0023	48	c.19 others(57): Show c.199_*200insTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	CBY2	ENSG00000174015.10	transcript	ENST00000310521.6	protein_coding		13		chr13	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0240 a0001c0001t0015g0240	1	242	0.0041	48	c.213 others(67): Show c.213-93047_213-93046insATATATATATATATATATATATATAT ATATATATATATATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0066 a0001c0001t0008g0066	1	242	0.0041	48	c.213 others(67): Show c.213-93047_213-93046insATATATATATATATACATATATATAT ATATATATATATATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	440	0.0023	48	c.676 others(65): Show c.676-1742_676-1741insATATATATATATATATATATATATATAT ATATATATATATATATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC105_chr19_15005726_15028276	15018732	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01167.hp2 others(17): Show HG00099.hp1 HG01099.hp1 HG01167.hp2 HG01175.hp2 HG01884.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02258.hp2 HG02602.hp2 HG02738.hp1 HG02818.hp2 HG03516.hp2 NA18942.hp1 NA18951.hp1 NA18952.hp1 NA19010.hp2 NA19060.hp1 NA19064.hp2 NA20805.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0008 a0010 a0016 a0017	a0001c0001 a0001c0004 a0003c0003 others(5): Show a0001c0001 a0001c0004 a0003c0003 a0005c0005 a0008c0009 a0010c0013 a0016c0028 a0017c0032	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0005c0005t0001 a0008c0009t0001 a0010c0013t0001 a0016c0028t0001 a0017c0032t0001	a0001c0001t0001g0040 a0001c0001t0001g0143 a0001c0001t0001g0296 others(13): Show a0001c0001t0001g0040 a0001c0001t0001g0143 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0330 a0001c0004t0001g0005 a0001c0004t0001g0080 a0003c0003t0001g0141 a0003c0003t0001g0315 a0005c0005t0001g0188 a0005c0005t0001g0209 a0008c0009t0001g0138 a0008c0009t0001g0328 a0010c0013t0001g0154 a0016c0028t0001g0149 a0017c0032t0001g0314	20	440	0.0455	48	c.676 others(65): Show c.676-1729_676-1728insTATATATATATATATATATATATATATA TATATATATATATATATATT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC126_chr7_23592382_23649708	23637705	G G	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	380	0.0026	48	c.239 others(65): Show c.239-5220_239-5219insTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGG	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18959.hp2 NA18992.hp1 HG01981.hp1 NA18959.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170	3	380	0.0079	48	c.346 others(65): Show c.346+1972_346+1973insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC13_chr3_42700756_42778253	42743600	T T	TATATATA others(41): Show TATATATATACACATATATATATATATATACATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0173 a0004c0004t0004g0173	1	320	0.0031	48	c.826 others(63): Show c.826-544_826-543insGTATATATATATATATATGTATATATATAT ATATATGTGTATATATAT	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC144A_chr17_16685241_16782881	16690002	C C	CGCTGGAG others(41): Show CGCTGGAGCTGCAGCGCCACCTGCAGGCCAAGGAGTCTTTTTCTGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02970.hp2 others(1): Show HG02055.hp2 HG02109.hp2 HG02970.hp2 HG03540.hp2	a0004 a0016 a0004 a0016	a0004c0005 a0016c0026 a0004c0005 a0016c0026	a0004c0005t0007 a0016c0026t0011 a0004c0005t0007 a0016c0026t0011	a0004c0005t0007g0295 a0004c0005t0007g0296 a0004c0005t0007g0297 others(1): Show a0004c0005t0007g0295 a0004c0005t0007g0296 a0004c0005t0007g0297 a0016c0026t0011g0317	4	318	0.0126	48	c.-39 others(57): Show c.-399_-398insGCTGGAGCTGCAGCGCCACCTGCAGGCCAAGGAGTC TTTTTCTGGGAG	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding		238		chr17	TogoVar
CCDC148_chr2_158166073_158461753	158433261	A A	AATATATA others(41): Show AATATATATATATATACATATATATATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0228 a0004c0003t0001g0228	1	264	0.0038	48	c.25+ others(65): Show c.25+23153_25+23154insATATACATATATATATATATATATATAT ATATGTATATATATATATAT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC150_chr2_196634715_196737801	196721361	T T	TATATATG others(41): Show TATATATGTGTATATATATATATATATATATATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0093 a0001c0013t0006g0093	1	212	0.0047	48	c.226 others(65): Show c.2260-155_2260-154insGTGTATATATATATATATATATATATAT ATATACATATATACATATAT	CCDC150	ENSG00000144395.18	transcript	ENST00000389175.9	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC152_chr5_42751818_42807439	42755283	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATGTGTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA19054.hp1 NA18989.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0199 a0001c0001t0005g0200	2	348	0.0058	48	c.-16 others(59): Show c.-1605_-1604insTGTGTGTGTGTGTGTGTGTATATATATATATATA TGTGTGTATATATA	CCDC152	ENSG00000198865.10	transcript	ENST00000361970.10	protein_coding		1534		chr5	TogoVar
CCDC152_chr5_42751818_42807439	42755290	T T	TATATATA others(41): Show TATATATATATATGTGTGTATATATATGTATATATATATATATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0046 a0001c0001t0015g0046	1	348	0.0029	48	c.-15 others(59): Show c.-1598_-1597insATATATATATATGTGTGTATATATATGTATATAT ATATATATAGATAG	CCDC152	ENSG00000198865.10	transcript	ENST00000361970.10	protein_coding		1527		chr5	TogoVar
CCDC152_chr5_42751818_42807439	42755294	T T	TATATATA others(41): Show TATATATATGTGTGTATATATATGTATATATATATATATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	348	0.0029	48	c.-15 others(59): Show c.-1594_-1593insATATATATGTGTGTATATATATGTATATATATAT ATATAGATAGATAG	CCDC152	ENSG00000198865.10	transcript	ENST00000361970.10	protein_coding		1523		chr5	TogoVar
CCDC152_chr5_42751818_42807439	42755298	T T	TATATGTG others(41): Show TATATGTGTGTATATATATGTATATATATATATATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	348	0.0029	48	c.-15 others(59): Show c.-1590_-1589insATATGTGTGTATATATATGTATATATATATATAT AGATAGATAGATAG	CCDC152	ENSG00000198865.10	transcript	ENST00000361970.10	protein_coding		1519		chr5	TogoVar
CCDC171_chr9_15548043_15979037	15736661	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0004 a0003c0014t0004	a0003c0014t0004g0066 a0003c0014t0004g0066	1	266	0.0038	48	c.204 others(67): Show c.2049+6894_2049+6895insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15882979	A A	AGCCTGCC others(41): Show AGCCTGCCTGACTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19009.hp1 NA19012.hp1 HG00558.hp1 NA19009.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0118 a0002c0002t0002g0087 a0002c0002t0002g0145 a0002c0002t0001g0118 a0002c0002t0002g0087 a0002c0002t0002g0145	3	266	0.0113	48	c.360 others(67): Show c.3600+8325_3600+8326insACTGCCTGCCTGCCTGCCTGCCTGCC TGCCTGCCTGCCTGCCTGCCTG	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC200_chr17_43216420_43233623	43225680	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03471.hp2 HG03492.hp1 HG01168.hp2 HG03471.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0226 a0001c0001t0002g0034 a0001c0001t0002g0226	3	334	0.0090	48	c.106 others(65): Show c.106-1132_106-1131insTATATATATATATATATATATATATATA TATATATATATATATATATA	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01099.hp1 HG01243.hp1 others(19): Show HG00597.hp1 HG01099.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01943.hp1 HG02040.hp2 HG02074.hp1 HG02300.hp2 HG02602.hp1 HG02735.hp2 HG03017.hp1 HG06807.hp2 NA18971.hp1 NA18983.hp2 NA18987.hp1 NA18993.hp1 NA19072.hp1 NA19078.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0007 a0001c0002t0001g0043 a0001c0002t0001g0049 others(16): Show a0001c0002t0001g0007 a0001c0002t0001g0043 a0001c0002t0001g0049 a0001c0002t0001g0063 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0081 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0158 a0001c0002t0001g0163 a0003c0005t0001g0165	22	334	0.0659	48	c.106 others(65): Show c.106-1145_106-1144insTTTTATATATATATATATATATATATAT ATATATATATATATATATAT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC38_chr12_95862048_95947614	95907645	G G	GGGGCGGC others(41): Show GGGGCGGCTGGCCAGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG02615.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0242 a0005c0010t0001g0243 a0005c0010t0001g0244 others(1): Show a0005c0010t0001g0242 a0005c0010t0001g0243 a0005c0010t0001g0244 a0005c0010t0001g0245	4	350	0.0114	48	c.305 others(65): Show c.305-1195_305-1194insGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCTGCCTGGCCAGCCGCCC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95908443	A A	AAGAGGGA others(41): Show AAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01891.hp1 HG02698.hp2 others(4): Show HG01168.hp2 HG01891.hp1 HG02698.hp2 HG03710.hp1 HG03710.hp2 NA18964.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0159 others(4): Show a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0159 a0001c0001t0001g0246 a0001c0002t0001g0211 a0001c0002t0002g0284 a0001c0005t0001g0214	7	350	0.0200	48	c.305 others(65): Show c.305-2040_305-1993dupCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCT	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95908561	G G	GGGAGAGG others(41): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0220 a0001c0007t0001g0220	1	350	0.0029	48	c.305 others(65): Show c.305-2111_305-2110insTCCCTCTCCCTCTCCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC42_chr17_8724935_8749836	8728169	A A	ACCCATCC others(41): Show ACCCATCCATCCATCCATCCATCCATCCATCCATCTCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00609.hp2 others(29): Show HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG01123.hp1 HG01433.hp1 HG02040.hp1 HG02129.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02630.hp2 HG02735.hp2 HG03831.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp1 NA18963.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18990.hp1 NA19011.hp2 NA19057.hp2 NA19063.hp2 NA19081.hp1 NA19087.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0004 others(18): Show a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0061 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0008g0108	32	410	0.0781	48	c.19 others(59): Show c.1960_*1961insGATAGATAGATAGAGATGGATGGATGGATGGATG GATGGATGGATGGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		1765		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8728169	A A	ACCCATCC others(41): Show ACCCATCCATCCATCCATCCATCCATCCATCTCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02723.hp2 HG01109.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0180 a0001c0001t0003g0163 a0001c0001t0003g0180	2	410	0.0049	48	c.19 others(59): Show c.1960_*1961insGATAGATAGATAGATAGAGATGGATGGATGGATG GATGGATGGATGGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		1765		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8728171	C C	CCATCCAT others(41): Show CCATCCATCCATCCATCCATCCATCCATCTCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	410	0.0024	48	c.19 others(59): Show c.1958_*1959insTAGATAGATAGATAGATAGAGATGGATGGATGGA TGGATGGATGGATG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		1763		chr17	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGGG others(41): Show GGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	372	0.0027	48	c.-40 others(57): Show c.-401_-400insGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGTG others(41): Show GGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	372	0.0027	48	c.-40 others(57): Show c.-401_-400insGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC6_chr10_59783747_59911556	59882614	C C	CGGGAGAA others(41): Show CGGGAGAAGGAAAGCCGGGGAGAAGGAAAGCCAGGGAGAAGGAAAGCCG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	288	0.0035	48	c.303 others(67): Show c.303+23507_303+23508insCGGCTTTCCTTCTCCCTGGCTTTCCT TCTCCCCGGCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC74B_chr2_130134287_130150112	130139725	T T	TATAAAAC others(41): Show TATAAAACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0001 a0016c0021t0001	a0016c0021t0001g0075 a0016c0021t0001g0075	1	450	0.0022	48	c.810 others(61): Show c.810-36_810-35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGTTTTAT	CCDC74B	ENSG00000152076.19	transcript	ENST00000409943.8	protein_coding	7/7			chr2	TogoVar
CCDC77_chr12_396644_447642	416353	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0306 a0004c0004t0001g0306	1	432	0.0023	48	c.271 others(65): Show c.271-2140_271-2139insATATATATATATATATATATATATATAT GTATATATATATATATATAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC7_chr10_32441140_32887864	32828461	A A	AGAAGAAG others(41): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19088.hp2 HG02027.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0172 a0001c0002t0001g0180	2	368	0.0054	48	c.326 others(67): Show c.3268+3862_3268+3863insAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAGGAAGAGGAAGAGGAAGA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830121	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATGGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0270 a0002c0003t0001g0270	1	368	0.0027	48	c.326 others(67): Show c.3269-4674_3269-4673insATATATATGGATATATATATATATAT ATATATATATATATATATATAT	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55297329	A A	ATATAATT others(41): Show ATATAATTATATATAAATATATAATATATAATATATAAATTTATATATT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	316	0.0032	48	c.482 others(65): Show c.4826-807_4826-806insAATATATAAATTTATATATTATATATTA TATATTTATATATAATTATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCDC91_chr12_28185456_28555166	28362280	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0216 a0003c0003t0001g0216	1	242	0.0041	48	c.577 others(63): Show c.577-143_577-142insATATATATATATATATATATATATATATAT ATATATATATATATATAT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCHCR1_chr6_31137439_31162802	31140628	A A	AAAAATAA others(41): Show AAAAATAAAAAATAAAAAAACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0001 a0010c0029t0001	a0010c0029t0001g0145 a0010c0029t0001g0145	1	455	0.0022	48	c.19 others(59): Show c.1963_*1964insATATATATATATATATATATATATATATGTTTTT TTATTTTTTATTTT	CCHCR1	ENSG00000204536.15	transcript	ENST00000396268.8	protein_coding		1810		chr6	TogoVar
CCNB1_chr5_69162150_69183245	69164026	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	420	0.0024	48	c.-32 others(59): Show c.-3237_-3236insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATAT	CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding		3123		chr5	TogoVar
CCNG1_chr5_163432595_163450016	163433355	G G	GGTGTGTG others(41): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGGGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	422	0.0024	48	c.-44 others(59): Show c.-4450_-4449insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTTTGGGTGTGT	CCNG1	ENSG00000113328.20	transcript	ENST00000340828.7	protein_coding		4239		chr5	TogoVar
CCNQ_chrX_153582925_153604139	153584577	A A	AAGGGAGG others(41): Show AAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	302	0.0033	48	c.37 others(59): Show c.3787_*3788insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTTCCTCCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3347		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153584577	A A	AAGGGAGG others(41): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	302	0.0033	48	c.37 others(59): Show c.3787_*3788insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3347		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153584581	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	302	0.0033	48	c.37 others(59): Show c.3783_*3784insCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3343		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153584581	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03669.hp1 NA18966.hp1 HG03239.hp2 HG03669.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	302	0.0099	48	c.37 others(59): Show c.3783_*3784insCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3343		chrX	TogoVar

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