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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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	10700080	G G	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0142 a0001c0009t0017g0142	1	236	0.0042	36	c.-24 others(53): Show c.-24+5376_-24+5411dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(29): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0052 a0006c0012t0001g0052	1	366	0.0027	36	c.118 others(51): Show c.118+103_118+104insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01258.hp2 HG03669.hp1 others(3): Show HG01081.hp2 HG01258.hp2 HG03669.hp1 NA18968.hp1 NA18971.hp1 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0002 a0001c0003t0003 a0003c0006t0001 a0001c0001t0002 a0001c0003t0003 a0003c0006t0001	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0008 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0003t0003g0032 a0003c0006t0001g0009	6	398	0.0151	36	c.39 others(47): Show c.3939_*3940insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5733305	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0022 a0003c0004t0001g0314 a0003c0004t0001g0022 a0003c0004t0001g0314	2	336	0.0060	36	c.277 others(51): Show c.277-550_277-549insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5733307	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0017 a0017	a0017c0014 a0017c0014	a0017c0014t0002 a0017c0014t0002	a0017c0014t0002g0013 a0017c0014t0002g0013	1	336	0.0030	36	c.277 others(51): Show c.277-521_277-520insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	336	0.0030	36	c.142 others(55): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT TTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0314 a0003c0004t0001g0314	1	336	0.0030	36	c.142 others(55): Show c.1428-1156_1428-1155insATATATATATATATATATATTTTTTT TTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0022 a0002c0004t0001g0022	1	206	0.0049	36	c.264 others(55): Show c.2648+7747_2648+7748insATATATATATATATATATATTTTTTT TTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	342	0.0029	36	c.195 others(53): Show c.195+7707_195+7708insATATATATATATATATATATATATATTT TTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19084.hp1 NA18994.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0208 a0001c0001t0003g0131 a0001c0001t0002g0208 a0001c0001t0003g0131	2	342	0.0059	36	c.195 others(53): Show c.195+7707_195+7708insATATATATATATATATATATATATTTTT TTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	342	0.0029	36	c.195 others(53): Show c.195+7707_195+7708insATATATATATATATATATTTTTTTTTTT TTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555518	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	342	0.0029	36	c.196 others(53): Show c.196-3425_196-3424insAAGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG03704.hp2 NA19070.hp2 HG00597.hp1 HG03704.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	374	0.0080	36	c.-85 others(45): Show c.-859_-858insACACACACACACACACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CAVIN4_chr9_100573079_100593389	100575910	T T	TAAGTCAT others(29): Show TAAGTCATCTGTTGCCTATCATTGTGGATGGCAGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	36	c.-22 others(47): Show c.-2234_-2233insAAGTCATCTGTTGCCTATCATTGTGGATGGCAGT TC	CAVIN4	ENSG00000170681.7	transcript	ENST00000307584.6	protein_coding		2168		chr9	TogoVar
CBFA2T2_chr20_33485096_33655030	33545439	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG01884.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0025 a0001c0001t0008 a0001c0001t0025	a0001c0001t0008g0005 a0001c0001t0025g0009 a0001c0001t0008g0005 a0001c0001t0025g0009	2	298	0.0067	36	c.34+ others(53): Show c.34+55172_34+55173insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88929625	A A	ATCCACGC others(29): Show ATCCACGCAAAAACTACCAATACCCACAGCTGCGTGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	284	0.0035	36	c.152 others(55): Show c.152-28005_152-27970dupCCACGCAGCTGTGGGTATTGGTAGTT TTTGCGTGGA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFB_chr16_67024149_67106058	67092698	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	212	0.0047	36	c.496 others(53): Show c.496-5980_496-5979insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLC_chr19_44772890_44805652	44781459	A A	ACCTGGAC others(29): Show ACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	344	0.0029	36	c.657 others(51): Show c.657+109_657+110insGTCTGAGGGAGGAGGGGCTGGGGCCTGGAC TCCTGG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44793685	C C	CCTGGACT others(29): Show CCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01123.hp1 others(45): Show HG00140.hp2 HG00735.hp2 HG01123.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG02056.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18963.hp1 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19001.hp2 NA19012.hp1 NA19080.hp2 NA19086.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp2	a0000 a0001 a0003 others(1): Show a0000 a0001 a0003 a0008	a0000c0002 a0000c0007 a0001c0006 others(3): Show a0000c0002 a0000c0007 a0001c0006 a0001c0009 a0003c0005 a0008c0019	a0000c0002t0001 a0000c0007t0001 a0001c0006t0001 others(4): Show a0000c0002t0001 a0000c0007t0001 a0001c0006t0001 a0001c0009t0001 a0001c0009t0002 a0003c0005t0001 a0008c0019t0001	a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 others(42): Show a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 a0000c0002t0001g0036 a0000c0002t0001g0037 a0000c0002t0001g0039 a0000c0002t0001g0040 a0000c0002t0001g0041 a0000c0002t0001g0049 a0000c0002t0001g0063 a0000c0002t0001g0077 a0000c0002t0001g0079 a0000c0002t0001g0188 a0000c0002t0001g0193 a0000c0002t0001g0201 a0000c0002t0001g0217 a0000c0002t0001g0218 a0000c0002t0001g0225 a0000c0002t0001g0256 a0000c0002t0001g0261 a0000c0002t0001g0262 a0000c0002t0001g0272 a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046 a0000c0007t0001g0051 a0000c0007t0001g0057 a0001c0006t0001g0048 a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0062 a0001c0006t0001g0116 a0001c0006t0001g0117 a0001c0009t0001g0065 a0001c0009t0002g0064 a0003c0005t0001g0029 a0003c0005t0001g0033 a0003c0005t0001g0038 a0003c0005t0001g0054 a0003c0005t0001g0055 a0003c0005t0001g0066 a0003c0005t0001g0115 a0003c0005t0001g0118 a0003c0005t0001g0271 a0008c0019t0001g0060	48	344	0.1395	36	c.128 others(51): Show c.1284+90_1284+91insAGGGCTGGGGTCTGGACTCCTGGGTCTGAG GGAGGA	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLC_chr19_44772890_44805652	44801827	A A	ACCCCCAA others(29): Show ACCCCCAACCCCTCCTCCCTCAGACCAGGAGTCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0193 a0000c0002t0001g0193	1	344	0.0029	36	c.12 others(47): Show c.1284_*1285insCCCCCAACCCCTCCTCCCTCAGACCAGGAGTCCA GG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		1176		chr19	TogoVar
CBR1_chr21_36065024_36078164	36074389	A A	ACTCTGTC others(29): Show ACTCTGTCGCCAGGCTGGAGTGCAGTGCAGTGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	430	0.0023	36	c.15 others(47): Show c.1507_*1508insCTCTGTCGCCAGGCTGGAGTGCAGTGCAGTGGTG TG	CBR1	ENSG00000159228.13	transcript	ENST00000290349.11	protein_coding		1226		chr21	TogoVar
CC2D2B_chr10_95902975_96038745	96036316	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAGAAAAAACAAAAAAAATAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	312	0.0032	36	c.43 others(47): Show c.4308_*4309insAAAAAAAAAAAAAGAAAAAACAAAAAAAATAAAA AA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding		2572		chr10	TogoVar
CCBE1_chr18_59425939_59702423	59511539	A A	AATGTTGT others(29): Show AATGTTGTTTCAGCAGATTACATATTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	242	0.0041	36	c.213 others(55): Show c.213-31302_213-31301insAAGAAAGAAAAAATATGTAATCTGCT GAAACAACAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02559.hp1 HG03486.hp2 others(2): Show HG00408.hp1 HG02559.hp1 HG03486.hp2 HG03490.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 a0001c0001t0032	a0001c0001t0001g0115 a0001c0001t0001g0186 a0001c0001t0005g0059 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0186 a0001c0001t0005g0059 a0001c0001t0024g0012 a0001c0001t0032g0053	5	242	0.0207	36	c.213 others(55): Show c.213-93047_213-93046insATATATATATATATATATATATATAT ATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68857232	A A	ATATATTA others(29): Show ATATATTATATAAAATATATTTATATATTTTATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp2 others(32): Show HG00099.hp1 HG00642.hp1 HG00733.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02895.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp1 NA18906.hp1 NA19030.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0009 a0017	a0001c0001 a0001c0003 a0001c0030 others(4): Show a0001c0001 a0001c0003 a0001c0030 a0004c0006 a0006c0010 a0009c0017 a0017c0023	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0030t0001 a0004c0006t0001 a0006c0010t0001 a0006c0010t0002 a0009c0017t0001 a0017c0023t0001	a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0066 others(32): Show a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0183 a0001c0003t0001g0026 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0113 a0001c0003t0001g0116 a0001c0003t0001g0128 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0139 a0001c0003t0001g0141 a0001c0003t0001g0144 a0001c0003t0003g0112 a0001c0030t0001g0024 a0004c0006t0001g0081 a0004c0006t0001g0083 a0004c0006t0001g0084 a0004c0006t0001g0085 a0006c0010t0001g0146 a0006c0010t0002g0082 a0009c0017t0001g0025 a0017c0023t0001g0088	35	216	0.1620	36	c.936 others(55): Show c.936+10816_936+10817insTATATAAAATATATTTATATATTTTA TATATTATAT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01943.hp2 NA19066.hp2 HG00733.hp1 HG01943.hp2 NA19066.hp2	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0002 a0006c0025 a0007c0008 a0002c0002 a0006c0025 a0007c0008	a0002c0002t0001 a0006c0025t0001 a0007c0008t0001 a0002c0002t0001 a0006c0025t0001 a0007c0008t0001	a0002c0002t0001g0230 a0006c0025t0001g0115 a0007c0008t0001g0231 a0002c0002t0001g0230 a0006c0025t0001g0115 a0007c0008t0001g0231	3	440	0.0068	36	c.676 others(53): Show c.676-1742_676-1741insATATATATATATATATATATATATATAT ATATATAT	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(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02074.hp2 HG02257.hp1 others(5): Show HG01358.hp2 HG02074.hp2 HG02257.hp1 HG02273.hp1 HG03486.hp2 HG03669.hp1 NA18945.hp1 NA19001.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0024	a0001c0001 a0001c0004 a0003c0003 others(2): Show a0001c0001 a0001c0004 a0003c0003 a0009c0010 a0024c0035	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0009c0010t0001 a0024c0035t0001	a0001c0001t0001g0158 a0001c0001t0001g0319 a0001c0001t0001g0346 others(5): Show a0001c0001t0001g0158 a0001c0001t0001g0319 a0001c0001t0001g0346 a0001c0004t0001g0049 a0003c0003t0001g0145 a0009c0010t0001g0172 a0009c0010t0001g0196 a0024c0035t0001g0195	8	440	0.0182	36	c.676 others(53): Show c.676-1729_676-1728insTATATATATATATATATATATATATATA TATATATT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0338 a0002c0005t0001g0338	1	428	0.0023	36	c.21 others(47): Show c.2159_*2160insAAAAAAAAAAAAAATATATATATATATATATATA TA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0008 a0002c0005t0001g0008	1	428	0.0023	36	c.21 others(47): Show c.2159_*2160insAAAAAAAAAAAAAAAATATATATATATATATATA TA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	354	0.0028	36	c.97- others(53): Show c.97-10734_97-10733insATATATATATATATATTTTTTTTTTTTT TTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	354	0.0028	36	c.97- others(53): Show c.97-10734_97-10733insATATATATATATATATATATTTTTTTTT TTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	354	0.0028	36	c.97- others(53): Show c.97-10734_97-10733insATATATATATATATATATATATTTTTTT TTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	354	0.0028	36	c.97- others(53): Show c.97-10734_97-10733insATATATATATATATATATATATATTTTT TTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	354	0.0028	36	c.97- others(53): Show c.97-10734_97-10733insATATATATATATATATATATATATATTT TTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46981164	G G	GCGCTCCC others(29): Show GCGCTCCCGCCCGACCACTCCCCCCGCCCCGCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	354	0.0028	36	c.-44 others(47): Show c.-4433_-4432insTGGGGGCGGGGCGGGGGGAGTGGTCGGGCGGGAG CG	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding		4420		chr3	TogoVar
CCDC13_chr3_42700756_42778253	42743600	T T	TATATATA others(29): Show TATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG01109.hp2 HG02258.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0016	a0001c0008t0016g0068 a0001c0008t0016g0069 a0001c0008t0016g0068 a0001c0008t0016g0069	2	320	0.0063	36	c.826 others(51): Show c.826-544_826-543insGTGTGTGTGTGTATATATATATATATATAT ATATAT	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC148_chr2_158166073_158461753	158433261	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0032 a0011c0014t0001g0032	1	264	0.0038	36	c.25+ others(53): Show c.25+23153_25+23154insATATATATATATATATATATATATATAT ATATATAT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC150_chr2_196634715_196737801	196721361	T T	TATATATA others(29): Show TATATATATGTGTATATATATACATATACATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp2 HG03453.hp1 others(1): Show HG02922.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0051	4	212	0.0189	36	c.226 others(53): Show c.2260-153_2260-152insGTGTATATATATACATATACATATATAC ATATATAT	CCDC150	ENSG00000144395.18	transcript	ENST00000389175.9	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC150_chr2_196634715_196737801	196721361	T T	TATATATG others(29): Show TATATATGTATATATATATATATACACACATATATAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	212	0.0047	36	c.226 others(53): Show c.2260-155_2260-154insGTATATATATATATATACACACATATAT ACATATAT	CCDC150	ENSG00000144395.18	transcript	ENST00000389175.9	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC152_chr5_42751818_42807439	42755285	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	348	0.0029	36	c.-16 others(47): Show c.-1603_-1602insTGTGTGTGTGTGTGTGTGTATATATATATATATA TA	CCDC152	ENSG00000198865.10	transcript	ENST00000361970.10	protein_coding		1532		chr5	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(29): Show GCGCGCGCGCGCGCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	266	0.0038	36	c.822 others(49): Show c.822+63_822+64insGCGCGCGCGCGCGCGCACACACACACACACAC ACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(29): Show GCGCGCGCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0020 a0002c0013t0020	a0002c0013t0020g0127 a0002c0013t0020g0127	1	266	0.0038	36	c.822 others(49): Show c.822+63_822+64insGCGCGCGCGCGCGCGCGCACACACACACACAC ACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15691546	T T	TTATATAT others(29): Show TTATATATATATATGTATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0005 a0007c0007t0005	a0007c0007t0005g0059 a0007c0007t0005g0060 a0007c0007t0005g0061 a0007c0007t0005g0059 a0007c0007t0005g0060 a0007c0007t0005g0061	3	266	0.0113	36	c.121 others(55): Show c.1216-3676_1216-3675insGTATATATATATATATATATGTATAT ATATATATAT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15882979	A A	AGCCTGCC others(29): Show AGCCTGCCTGACTGCCTGCCTGCCTGCCTGCCTGCCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01516.hp1 HG01099.hp2 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0106 a0002c0002t0002g0076 a0002c0002t0002g0106	2	266	0.0075	36	c.360 others(55): Show c.3600+8325_3600+8326insACTGCCTGCCTGCCTGCCTGCCTGCC TGCCTGCCTG	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC175_chr14_59500067_59581812	59508399	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA19056.hp1 HG03942.hp2 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0216 a0002c0002t0001g0118 a0002c0002t0001g0216	2	294	0.0068	36	c.230 others(55): Show c.2305+2211_2305+2246dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding	19/19			chr14	TogoVar
CCDC188_chr22_20143416_20156055	20154188	G G	GGGGCCTC others(29): Show GGGGCCTCCCCAGCAGAGGCGGCTGGACACCTGGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	408	0.0025	36	c.-32 others(47): Show c.-3203_-3202insGGGCCAGGTGTCCAGCCGCCTCTGCTGGGGAGGC CC	CCDC188	ENSG00000234409.7	transcript	ENST00000439765.4	protein_coding		3134		chr22	TogoVar
CCDC194_chr19_17382196_17399196	17382272	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02738.hp2 NA18964.hp2 HG01891.hp1 HG02738.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0050 a0002c0002t0009 a0001c0001t0001 a0001c0001t0050 a0002c0002t0009	a0001c0001t0001g0001 a0001c0001t0050g0112 a0002c0002t0009g0071 a0001c0001t0001g0001 a0001c0001t0050g0112 a0002c0002t0009g0071	3	414	0.0073	36	c.82 others(47): Show c.8236_*8237insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4923		chr19	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	36	c.82 others(47): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC200_chr17_43216420_43233623	43223459	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG01099.hp1 others(12): Show HG00597.hp1 HG00639.hp1 HG01099.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG02040.hp2 HG02056.hp2 HG03654.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0081 a0001c0002t0001g0085 others(9): Show a0001c0002t0001g0007 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0115 a0001c0002t0001g0121 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0144 a0001c0002t0001g0159 a0001c0002t0001g0161	15	334	0.0449	36	c.480 others(49): Show c.480+96_480+97insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	3/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225680	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	334	0.0030	36	c.106 others(53): Show c.106-1132_106-1131insTATATATATATATATATATATATATATA TATATATA	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar

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