Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CAV2_chr7_116494738_116513541	116498923	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(27): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00621.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02148.hp1 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 NA18941.hp1 NA18944.hp1 NA18955.hp1 NA18960.hp2 NA18967.hp1 NA18984.hp1 NA18997.hp1 NA19066.hp1 NA19068.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0023 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0006g0001 a0001c0001t0010g0001 a0002c0002t0004g0004	30	374	0.0802	30	c.-85 others(39): Show c.-859_-858insACACACACACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CAV3_chr3_8728802_8751758	8746799	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0090 a0001c0006t0010g0090	1	476	0.0021	30	c.93 others(39): Show c.932_*933insCACACACACACACACACACACACACACACA	CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding		42		chr3	TogoVar
CBFA2T2_chr20_33485096_33655030	33544990	T T	TAGAACAG others(23): Show TAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0066 a0001c0001t0011g0066	1	298	0.0034	30	c.34+ others(47): Show c.34+54693_34+54694insCAGAACAGAACAGAACAGAACAGAACAG AA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33545010	T T	TAGAACAG others(23): Show TAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01981.hp1 HG02615.hp2 others(4): Show HG00438.hp1 HG01981.hp1 HG02615.hp2 HG02683.hp2 HG02738.hp2 NA18964.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0004g0049 others(4): Show a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0061	7	298	0.0235	30	c.34+ others(47): Show c.34+54723_34+54724insCAGAACAGAACAGAACAGAACAGAACAG AA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18956.hp1 HG03669.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0001 a0001c0001t0043	a0001c0001t0001g0272 a0001c0001t0043g0221 a0001c0001t0001g0272 a0001c0001t0043g0221	2	298	0.0067	30	c.510 others(47): Show c.510+1707_510+1708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFB_chr16_67024149_67106058	67092698	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA20300.hp1 HG02109.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0012 a0001c0001t0002g0014	2	212	0.0094	30	c.496 others(47): Show c.496-6009_496-5980dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBL_chr11_119201339_119313149	119206289	C C	CCGGTGGC others(23): Show CCGGTGGCGGCGGCGGCGGCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	364	0.0028	30	c.-12 others(39): Show c.-129_-128insCGGTGGCGGCGGCGGCGGCGGCGGCGGCGG	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding		49		chr11	TogoVar
CBL_chr11_119201339_119313149	119264383	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0030 a0001c0001t0035g0030	1	364	0.0028	30	c.444 others(47): Show c.444-7348_444-7347insCTTCTCTTCTCTTCTCTTCTCTTCTCTT CT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CC2D1A_chr19_13901201_13935879	13926000	G G	GTATATAT others(23): Show GTATATATATATATACGTATATATACGTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	370	0.0027	30	c.194 others(47): Show c.1941-493_1941-492insCGTGTATATATATATATATACGTATATA TA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13926030	A A	ATATATAC others(23): Show ATATATACATATATATACGTATATATATGTG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0101 a0002c0007t0001g0101	1	370	0.0027	30	c.194 others(47): Show c.1941-481_1941-480insCATATATATACGTATATATATGTGTATA TA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13926030	A A	ATATATAT others(23): Show ATATATATATATATATACGTATATATATGTG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0052 a0018c0021t0001g0052	1	370	0.0027	30	c.194 others(47): Show c.1941-473_1941-472insTACGTATATATATGTGTATATATATATA TA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13926045	C C	CGTATATA others(23): Show CGTATATATATGTGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02257.hp2 others(9): Show HG01891.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp2 NA18964.hp2 NA19085.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0007 a0006c0009 a0001c0001 a0002c0007 a0006c0009	a0001c0001t0001 a0002c0007t0001 a0006c0009t0001 a0001c0001t0001 a0002c0007t0001 a0006c0009t0001	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0096 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0137 a0002c0007t0001g0087 a0002c0007t0001g0099 a0006c0009t0001g0075 a0006c0009t0001g0097 a0006c0009t0001g0098	12	370	0.0324	30	c.194 others(47): Show c.1941-472_1941-471insGTATATATATGTGTATATATATATATAT AT	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28			chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13929777	A A	AGGGAGGG others(23): Show AGGGAGGGGCTCGGGGATGGGCACCTGGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0005 a0009c0016t0005	a0009c0016t0005g0148 a0009c0016t0005g0148	1	370	0.0027	30	c.271 others(47): Show c.2710+170_2710+199dupCCTGGAGGGGGAGGGGCTCGGGGATGGG CA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13929867	A A	AGGGAGGG others(23): Show AGGGAGGGGCTCGGGGATGGGCACCTGGAGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20129.hp2 HG02559.hp2 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0068 a0004c0005t0004g0150 a0004c0005t0004g0068 a0004c0005t0004g0150	2	370	0.0054	30	c.271 others(46): Show c.2711-123_2711-94dupAGGGGGAGGGGCTCGGGGATGGGCACCTG G	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCAR1_chr10_68716239_68797377	68758612	T T	TGTGTATA others(23): Show TGTGTATATATATATATGTATATATACACAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18961.hp1 NA18982.hp2 others(1): Show NA18947.hp2 NA18961.hp1 NA18982.hp2 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0122 a0001c0002t0001g0151 others(1): Show a0001c0002t0001g0110 a0001c0002t0001g0122 a0001c0002t0001g0151 a0001c0002t0001g0161	4	360	0.0111	30	c.192 others(49): Show c.1920+1251_1920+1252insGTATATATACACACGTGTATATATAT ATAT	CCAR1	ENSG00000060339.14	transcript	ENST00000265872.11	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCBE1_chr18_59425939_59702423	59547035	A A	AAGAGAGG others(23): Show AAGAGAGGGGGAGAGAGGGGGAGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	242	0.0041	30	c.213 others(49): Show c.213-66827_213-66798dupCCCCCTCTCTCCCCCTCTCTCCCCCT CTCT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG03540.hp1 HG00741.hp1 HG01243.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0096 a0001c0001t0006g0033 a0001c0001t0006g0136 a0001c0001t0001g0096 a0001c0001t0006g0033 a0001c0001t0006g0136	3	242	0.0124	30	c.213 others(49): Show c.213-93047_213-93046insATATATATATATATATATATATATAT ATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC102A_chr16_57507181_57541571	57520536	A A	AATAACAT others(23): Show AATAACATAACATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	416	0.0024	30	c.921 others(45): Show c.921+502_921+531dupGTTATGTTATGTTATGTTATGTTATGTTAT	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	4/8			chr16	TogoVar
CCDC102B_chr18_68793080_69060189	69009924	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01071.hp2 others(5): Show HG00140.hp2 HG00733.hp1 HG01071.hp2 HG01175.hp1 HG01496.hp1 HG03492.hp1 NA18948.hp2 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0009	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0009t0001	a0001c0001t0001g0120 a0001c0001t0001g0212 a0001c0001t0001g0213 others(5): Show a0001c0001t0001g0120 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0003t0001g0108 a0002c0002t0001g0055 a0002c0002t0001g0094 a0002c0002t0001g0098 a0002c0009t0001g0102	8	216	0.0370	30	c.126 others(47): Show c.1264-985_1264-984insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	69014978	A A	AGAGTGTG others(23): Show AGAGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19007.hp2 NA20752.hp2 HG01109.hp1 NA19007.hp2 NA20752.hp2	a0002 a0020 a0002 a0020	a0002c0005 a0020c0033 a0002c0005 a0020c0033	a0002c0005t0001 a0020c0033t0001 a0002c0005t0001 a0020c0033t0001	a0002c0005t0001g0053 a0002c0005t0001g0191 a0020c0033t0001g0074 a0002c0005t0001g0053 a0002c0005t0001g0191 a0020c0033t0001g0074	3	216	0.0139	30	c.143 others(49): Show c.1434+3875_1434+3876insAGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01516.hp1 HG02015.hp1 others(5): Show HG00642.hp2 HG01516.hp1 HG02015.hp1 HG02074.hp1 HG02523.hp2 HG06807.hp1 HG06807.hp2 NA19075.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0024 a0002c0002 a0006c0024	a0002c0002t0001 a0006c0024t0001 a0002c0002t0001 a0006c0024t0001	a0002c0002t0001g0007 a0002c0002t0001g0026 a0002c0002t0001g0228 others(1): Show a0002c0002t0001g0007 a0002c0002t0001g0026 a0002c0002t0001g0228 a0006c0024t0001g0090	8	440	0.0182	30	c.676 others(47): Show c.676-1742_676-1741insATATATATATATATATATATATATATAT AT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC105_chr19_15005726_15028276	15018732	A A	ATGTATAT others(23): Show ATGTATATATACATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	440	0.0023	30	c.676 others(47): Show c.676-1729_676-1728insTGTATATATACATATATATATATATATA TT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC116_chr22_21627760_21642329	21639255	A A	AAAAACAA others(23): Show AAAAACAAAACAAAACAAAACAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	394	0.0025	30	c.21 others(41): Show c.2185_*2186insAAAACAAAACAAAACAAAACAAAACAAAAC	CCDC116	ENSG00000161180.11	transcript	ENST00000292779.4	protein_coding		1927		chr22	TogoVar
CCDC122_chr13_43831352_43884740	43879778	T T	TGAGGCGG others(23): Show TGAGGCGGGGCGAGGCGGGGCGAGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	442	0.0023	30	c.-34 others(39): Show c.-348_-347insGCCCCGCCTCGCCCCGCCTCGCCCCGCCTC	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		39		chr13	TogoVar
CCDC122_chr13_43831352_43884740	43879800	A A	AGGCGGGG others(23): Show AGGCGGGGCGAGGCGGGGCGAGGCGAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	442	0.0023	30	c.-37 others(39): Show c.-370_-369insCCGCCTCGCCTCGCCCCGCCTCGCCCCGCC	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		61		chr13	TogoVar
CCDC122_chr13_43831352_43884740	43879800	A A	AGGCGGGG others(23): Show AGGCGGGGCGAGGCGGGGCGGGGCGAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0094 a0001c0001t0007g0094	1	442	0.0023	30	c.-37 others(39): Show c.-370_-369insCCGCCTCGCCCCGCCCCGCCTCGCCCCGCC	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		61		chr13	TogoVar
CCDC122_chr13_43831352_43884740	43879800	A A	AGGCGGGG others(23): Show AGGCGGGGCGGGGCGGGGCGGGGCGAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18956.hp2 NA18948.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	2	442	0.0045	30	c.-37 others(39): Show c.-370_-369insCCGCCTCGCCCCGCCCCGCCCCGCCCCGCC	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		61		chr13	TogoVar
CCDC122_chr13_43831352_43884740	43879800	A A	AGGCGGGG others(23): Show AGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	442	0.0023	30	c.-37 others(39): Show c.-370_-369insCCGCCCCGCCCCGCCCCGCCCCGCCCCGCC	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		61		chr13	TogoVar
CCDC125_chr5_69275175_69337801	69334793	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0077 a0002c0002t0008g0077	1	341	0.0029	30	c.-21 others(41): Show c.-2186_-2185insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding		1993		chr5	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19005.hp2 NA19056.hp2 NA18945.hp1 NA19005.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0236 a0001c0001t0002g0006 a0001c0001t0002g0236	3	354	0.0085	30	c.97- others(47): Show c.97-10734_97-10733insATATATATTTTTTTTTTTTTTTTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp2 NA18965.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0275 a0001c0001t0002g0250 a0001c0001t0002g0275	2	354	0.0057	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATTTTTTTTTTTTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18999.hp2 HG02280.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0206 a0001c0001t0002g0037 a0001c0001t0002g0206	2	354	0.0057	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATATATTTTTTTTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19066.hp1 NA19085.hp1 HG04228.hp2 NA19066.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0002g0190 a0001c0001t0002g0283 a0001c0001t0001g0077 a0001c0001t0002g0190 a0001c0001t0002g0283	3	354	0.0085	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATATATATTTTTTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18947.hp2 NA18977.hp1 HG02083.hp1 NA18947.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0026 a0001c0001t0002g0188 a0001c0001t0001g0103 a0001c0001t0002g0026 a0001c0001t0002g0188	3	354	0.0085	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATATATATATTTTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19056.hp1 NA18949.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0164 a0001c0001t0002g0178	2	354	0.0057	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATATATATATATTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	354	0.0028	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATATATATATATATTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC134_chr22_41795679_41837164	41833037	G G	GGGGGGCG others(23): Show GGGGGGCGCGCGGCCTGGAGGCGGGGCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG02630.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0108 a0001c0001t0031g0202 a0001c0001t0031g0108 a0001c0001t0031g0202	2	380	0.0053	30	c.72 others(41): Show c.7214_*7215insGGGGGCGCGCGGCCTGGAGGCGGGGCCGCA	CCDC134	ENSG00000100147.14	transcript	ENST00000255784.6	protein_coding		874		chr22	TogoVar
CCDC138_chr2_108781771_108881578	108811247	C C	CTCTTTTT others(23): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18993.hp2 NA18998.hp1 others(1): Show NA18977.hp2 NA18993.hp2 NA18998.hp1 NA19082.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0141 a0003c0003t0001g0158 a0003c0003t0001g0002 a0003c0003t0001g0141 a0003c0003t0001g0158	4	220	0.0182	30	c.856 others(47): Show c.856-1383_856-1382insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC13_chr3_42700756_42778253	42743587	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01978.hp1 HG01981.hp1 others(2): Show HG01358.hp1 HG01978.hp1 HG01981.hp1 HG02273.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0015 a0003c0003t0040 a0003c0003t0003 a0003c0003t0015 a0003c0003t0040	a0003c0003t0003g0040 a0003c0003t0003g0053 a0003c0003t0003g0057 others(2): Show a0003c0003t0003g0040 a0003c0003t0003g0053 a0003c0003t0003g0057 a0003c0003t0015g0290 a0003c0003t0040g0238	5	320	0.0156	30	c.826 others(45): Show c.826-531_826-530insTATATATATATATATATATATATATATATA	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC13_chr3_42700756_42778253	42743600	T T	TATATATA others(23): Show TATATATATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02559.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0012 a0006c0009t0012	a0006c0009t0012g0009 a0006c0009t0012g0090 a0006c0009t0012g0091 a0006c0009t0012g0009 a0006c0009t0012g0090 a0006c0009t0012g0091	4	320	0.0125	30	c.826 others(45): Show c.826-544_826-543insGTATATATATATATATATATGTATATATAT	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC144A_chr17_16685241_16782881	16729963	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0309 a0002c0002t0004g0309	1	318	0.0031	30	c.210 others(49): Show c.2106-1808_2106-1807insTATATATATATATATATATATATATA TATA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16729991	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02004.hp2 HG02818.hp1 others(1): Show HG01069.hp2 HG02004.hp2 HG02818.hp1 NA20752.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0030 a0001c0004t0005 a0001c0004t0030	a0001c0004t0005g0284 a0001c0004t0005g0286 a0001c0004t0005g0300 others(1): Show a0001c0004t0005g0284 a0001c0004t0005g0286 a0001c0004t0005g0300 a0001c0004t0030g0287	4	318	0.0126	30	c.210 others(49): Show c.2106-1808_2106-1807insTATATATATATATATATATATACACA CACA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16729991	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	318	0.0031	30	c.210 others(49): Show c.2106-1808_2106-1807insTATATATATATATATATATATATATA TACA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC148_chr2_158166073_158461753	158387288	T T	TTATCTAT others(23): Show TTATCTATATCTATATCTATATCTATATCTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0264 a0002c0002t0002g0264	1	264	0.0038	30	c.26- others(47): Show c.26-28748_26-28719dupTAGATATAGATATAGATATAGATATAGA TA	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433089	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	264	0.0038	30	c.25+ others(47): Show c.25+23325_25+23326insATATATATATATATATATATATATATAT AT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433261	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	264	0.0038	30	c.25+ others(47): Show c.25+23153_25+23154insATATATATATATATATATATATATATAT AT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC149_chr4_24798514_24918042	24906364	A A	AATTTTAT others(23): Show AATTTTATTTTATTTTTATTTTATTTATTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02698.hp1 HG03710.hp1 others(14): Show HG02109.hp1 HG02698.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18964.hp2 NA18969.hp1 NA18983.hp1 NA18993.hp1 NA19005.hp1 NA19009.hp2 NA19054.hp1 NA19063.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 a0001c0001t0049	a0001c0001t0001g0141 a0001c0001t0001g0211 a0001c0001t0001g0212 others(14): Show a0001c0001t0001g0141 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0009g0301 a0001c0001t0024g0215 a0001c0001t0049g0214	17	354	0.0480	30	c.48+ others(45): Show c.48+6452_48+6453insAAAATAAATAAAATAAAAATAAAATAAAAT	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12			chr4	TogoVar
CCDC149_chr4_24798514_24918042	24906364	A A	AATTTTAT others(23): Show AATTTTATTTTATTTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00733.hp1 others(41): Show HG00597.hp2 HG00609.hp2 HG00733.hp1 HG01074.hp1 HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01884.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03516.hp2 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18967.hp1 NA18983.hp2 NA18993.hp2 NA19001.hp2 NA19056.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19086.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0012 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0024 a0001c0001t0037 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0053 a0001c0001t0059 a0001c0003t0017 a0001c0003t0019 a0001c0003t0044 a0001c0003t0047 a0001c0003t0048 a0001c0003t0061 a0001c0009t0011 a0001c0012t0073 a0006c0008t0002	a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0247 others(39): Show a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0002g0238 a0001c0001t0005g0004 a0001c0001t0005g0240 a0001c0001t0005g0250 a0001c0001t0008g0003 a0001c0001t0008g0245 a0001c0001t0008g0252 a0001c0001t0008g0258 a0001c0001t0008g0260 a0001c0001t0010g0242 a0001c0001t0011g0235 a0001c0001t0011g0244 a0001c0001t0011g0255 a0001c0001t0015g0312 a0001c0001t0015g0313 a0001c0001t0015g0314 a0001c0001t0015g0315 a0001c0001t0024g0254 a0001c0001t0037g0307 a0001c0001t0037g0308 a0001c0001t0041g0251 a0001c0001t0042g0243 a0001c0001t0045g0259 a0001c0001t0053g0248 a0001c0001t0059g0236 a0001c0003t0017g0256 a0001c0003t0019g0126 a0001c0003t0019g0128 a0001c0003t0019g0129 a0001c0003t0044g0131 a0001c0003t0047g0127 a0001c0003t0048g0130 a0001c0003t0061g0246 a0001c0009t0011g0241 a0001c0012t0073g0309 a0006c0008t0002g0239	44	354	0.1243	30	c.48+ others(45): Show c.48+6452_48+6453insAAATAAAATAAAATAAAAATAAAATAAAAT	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12			chr4	TogoVar
CCDC149_chr4_24798514_24918042	24906400	A A	ATTTTATT others(23): Show ATTTTATTTTATTTTATTTTATTTTATTTTG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0318 a0001c0001t0025g0318	1	354	0.0028	30	c.48+ others(45): Show c.48+6416_48+6417insCAAAATAAAATAAAATAAAATAAAATAAAA	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12			chr4	TogoVar
CCDC14_chr3_123908422_123966229	123934270	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG02559.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	2	368	0.0054	30	c.134 others(47): Show c.1344-516_1344-515insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CCDC14	ENSG00000175455.16	transcript	ENST00000409697.8	protein_coding	9/12			chr3	TogoVar

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