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
CAPN12_chr19_38725192_38749474	38735747	GGGGGCGG others(18): Show GGGGGCGGGGCGGGGGTTCTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0282 a0004c0008t0003g0282	1	342	0.0029	-25	c.158 others(42): Show c.1584-228_1584-204delGCCCCCAGAACCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735817	GGGGGCGG others(18): Show GGGGGCGGGGCGGGGGTTCTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0256 a0001c0001t0021g0256	1	342	0.0029	-25	c.158 others(42): Show c.1583+268_1584-274delGCCCCCAGAACCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735912	CGGGGCGG others(18): Show CGGGGCGGGGCGGGGCGGGGGTTCTG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02273.hp2 HG02293.hp1 HG01515.hp1 HG02273.hp2 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0161 a0001c0002t0002g0213 a0001c0002t0002g0232 a0001c0002t0002g0161 a0001c0002t0002g0213 a0001c0002t0002g0232	3	342	0.0088	-25	c.158 others(42): Show c.1583+173_1583+197delCAGAACCCCCGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN13_chr2_30717771_30812446	30758794	TCCTTCCT others(18): Show TCCTTCCTCCCTCCCTTCCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	384	0.0026	-25	c.775 others(40): Show c.775-682_775-658delGAGGAAGGGAAGGGAGGGAGGAAGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30758802	CCCTCCCT others(18): Show CCCTCCCTTCCCTTCCTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG01169.hp2 others(22): Show HG00099.hp1 HG00408.hp2 HG01169.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02071.hp1 HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02735.hp2 HG02895.hp1 HG02965.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG03710.hp2 NA18906.hp1 NA18953.hp2 NA18997.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0012 a0001c0001 a0013c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0013c0012t0002	a0001c0001t0001g0110 a0001c0001t0001g0130 a0001c0001t0001g0134 others(22): Show a0001c0001t0001g0110 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0191 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0001g0273 a0001c0001t0001g0365 a0001c0001t0001g0373 a0001c0001t0002g0023 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0121 a0001c0001t0002g0184 a0001c0001t0002g0356 a0001c0001t0002g0358 a0001c0001t0005g0198 a0013c0012t0002g0268	25	384	0.0651	-25	c.775 others(40): Show c.775-690_775-666delAAGGAAGGGAGGAAGGGAAGGGAGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN1_chr11_65176928_65217006	65215647	GAATGTCT others(18): Show GAATGTCTTGTTTGTCACCAACCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0140 a0002c0003t0001g0140	1	394	0.0025	-25	c.43 others(36): Show c.4362_*4386delAATGTCTTGTTTGTCACCAACCCTC	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding		3642		chr11	TogoVar
CAPN2_chr1_223707539_223781018	223724528	TTTTATTT others(18): Show TTTTATTTAATTTAAATGTAAATAGC	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0155 a0001c0005t0001g0155	1	378	0.0027	-25	c.307 others(42): Show c.307+6698_307+6722delTTTATTTAATTTAAATGTAAATAGC	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPN2_chr1_223707539_223781018	223741421	GTATATAT others(18): Show GTATATATATATATAATGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01069.hp1 others(99): Show HG00438.hp2 HG00558.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp2 NA18980.hp1 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0017	a0001c0002 a0001c0007 a0001c0010 others(7): Show a0001c0002 a0001c0007 a0001c0010 a0001c0022 a0001c0047 a0002c0006 a0003c0046 a0005c0009 a0006c0014 a0017c0042	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0007t0001 a0001c0007t0003 a0001c0010t0003 a0001c0022t0003 a0001c0047t0003 a0002c0006t0001 a0002c0006t0008 a0003c0046t0001 a0005c0009t0003 a0006c0014t0001 a0017c0042t0001	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 others(97): Show a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0084 a0001c0002t0001g0094 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0330 a0001c0002t0001g0349 a0001c0002t0002g0002 a0001c0002t0002g0052 a0001c0002t0003g0001 a0001c0002t0003g0013 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0081 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0006g0334 a0001c0002t0010g0352 a0001c0007t0001g0174 a0001c0007t0001g0181 a0001c0007t0001g0204 a0001c0007t0001g0230 a0001c0007t0001g0232 a0001c0007t0001g0267 a0001c0007t0001g0289 a0001c0007t0001g0293 a0001c0007t0001g0294 a0001c0007t0001g0295 a0001c0007t0003g0132 a0001c0010t0003g0325 a0001c0010t0003g0326 a0001c0010t0003g0327 a0001c0010t0003g0328 a0001c0010t0003g0329 a0001c0022t0003g0264 a0001c0022t0003g0265 a0001c0047t0003g0126 a0002c0006t0001g0008 a0002c0006t0001g0010 a0002c0006t0001g0015 a0002c0006t0001g0016 a0002c0006t0001g0027 a0002c0006t0001g0028 a0002c0006t0001g0037 a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0045 a0002c0006t0001g0053 a0002c0006t0001g0055 a0002c0006t0001g0064 a0002c0006t0008g0026 a0002c0006t0008g0046 a0002c0006t0008g0048 a0003c0046t0001g0119 a0005c0009t0003g0088 a0005c0009t0003g0096 a0005c0009t0003g0322 a0006c0014t0001g0313 a0006c0014t0001g0315 a0017c0042t0001g0033	102	378	0.2698	-25	c.308 others(42): Show c.308-2664_308-2640delATGTGTATATATATATATATATATA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN3_chr15_42354501_42417317	42398098	TATATTTT others(18): Show TATATTTTTGGGGTACATATGTACCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01123.hp1 HG01243.hp1 others(45): Show HG00558.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02135.hp1 HG02145.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18954.hp2 NA18964.hp2 NA18972.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA19000.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19077.hp1 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0009 a0010	a0001c0001 a0002c0002 a0002c0006 others(6): Show a0001c0001 a0002c0002 a0002c0006 a0002c0009 a0002c0011 a0004c0007 a0008c0019 a0009c0017 a0010c0018	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0002c0009t0001 a0002c0011t0001 a0004c0007t0001 a0008c0019t0003 a0009c0017t0003 a0010c0018t0003	a0001c0001t0001g0007 a0001c0001t0001g0209 a0001c0001t0001g0258 others(43): Show a0001c0001t0001g0007 a0001c0001t0001g0209 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0002c0002t0001g0207 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0006t0001g0002 a0002c0006t0001g0051 a0002c0006t0001g0052 a0002c0009t0001g0205 a0002c0009t0001g0206 a0002c0009t0001g0282 a0002c0011t0001g0208 a0002c0011t0001g0215 a0002c0011t0001g0216 a0004c0007t0001g0210 a0004c0007t0001g0211 a0004c0007t0001g0212 a0004c0007t0001g0265 a0008c0019t0003g0010 a0009c0017t0003g0009 a0010c0018t0003g0011	48	306	0.1569	-25	c.119 others(44): Show c.1193+1229_1193+1253delTGGGGTACATATGTACCCATATTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN3_chr15_42354501_42417317	42398106	TGGGGTAC others(18): Show TGGGGTACATATGTACCCATATTTTG	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0194	1	306	0.0033	-25	c.119 others(44): Show c.1193+1267_1193+1291delTACCCATATTTTGGGGGTACATATG	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN9_chr1_230742388_230806989	230751594	AAAGAAAG others(18): Show AAAGAAAGAAAGAAAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	394	0.0025	-25	c.214 others(42): Show c.214-3740_214-3716delGAAAGAAAGAAAGAGAAAGAAAGAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800217	AAATAAGA others(18): Show AAATAAGAAAGAAAGAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG02258.hp2 others(8): Show HG00642.hp2 HG01074.hp2 HG02258.hp2 HG03041.hp2 HG03139.hp1 HG03942.hp1 NA19006.hp2 NA19058.hp2 NA19077.hp1 NA19078.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0003 a0001c0017 a0002c0013 others(3): Show a0001c0003 a0001c0017 a0002c0013 a0003c0004 a0004c0007 a0009c0020	a0001c0003t0001 a0001c0017t0001 a0002c0013t0001 others(3): Show a0001c0003t0001 a0001c0017t0001 a0002c0013t0001 a0003c0004t0001 a0004c0007t0001 a0009c0020t0001	a0001c0003t0001g0354 a0001c0003t0001g0366 a0001c0003t0001g0373 others(8): Show a0001c0003t0001g0354 a0001c0003t0001g0366 a0001c0003t0001g0373 a0001c0003t0001g0377 a0001c0003t0001g0388 a0001c0017t0001g0370 a0002c0013t0001g0391 a0003c0004t0001g0110 a0003c0004t0001g0261 a0004c0007t0001g0275 a0009c0020t0001g0333	11	394	0.0279	-25	c.204 others(44): Show c.2047-1350_2047-1326delTAAGAAAGAAAGAAGAAAGAAAGAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPS2_chr12_75270979_75335324	75311699	GGAAAAAA others(18): Show GGAAAAAAAAAAACAAAAAAAAAAAC	G G	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0327 a0001c0003t0031g0327	1	370	0.0027	-25	c.545 others(42): Show c.545+1124_545+1148delGTTTTTTTTTTTGTTTTTTTTTTTC	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	7/16			chr12	TogoVar
CARM1_chr19_10866553_10928075	10892666	CCTCCATT others(18): Show CCTCCATTACCTAGGAATCCTCACTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01952.hp2 HG00140.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0031 a0001c0001t0001g0063	2	354	0.0057	-25	c.221 others(44): Show c.221-12283_221-12259delTCCATTACCTAGGAATCCTCACTGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CASP6_chr4_109683628_109708445	109705998	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG03688.hp1 HG04228.hp2 HG02698.hp2 HG03688.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0001g0111 a0001c0001t0008g0043 a0001c0001t0001g0002 a0001c0001t0001g0111 a0001c0001t0008g0043	3	416	0.0072	-25	c.-26 others(36): Show c.-2628_-2604delATATATATATATATATATATATTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2554		chr4	TogoVar
CASR_chr3_122178668_122296629	122202393	CAGAGGGA others(18): Show CAGAGGGAGACCGTGGAAAGAGAGGG	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18961.hp1 NA18952.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0002 a0002c0010t0002 a0002c0002t0002 a0002c0010t0002	a0002c0002t0002g0283 a0002c0010t0002g0281 a0002c0002t0002g0283 a0002c0010t0002g0281	2	314	0.0064	-25	c.-24 others(46): Show c.-243+18618_-243+18642delGTGGAAAGAGAGGGAGAGGGAGAC C	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASTOR2_chr7_74959705_75036528	75008122	TGCCCACC others(18): Show TGCCCACCTCCTTATTTCTGTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01192.hp2 others(24): Show HG01071.hp2 HG01074.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02896.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0031 a0001c0001t0051 a0001c0001t0057 a0001c0001t0063 a0001c0001t0079 a0001c0001t0086 a0001c0001t0090 a0001c0002t0033 a0001c0002t0085 a0001c0002t0089 a0001c0005t0066 a0002c0004t0032	a0001c0001t0001g0101 a0001c0001t0003g0057 a0001c0001t0003g0088 others(24): Show a0001c0001t0001g0101 a0001c0001t0003g0057 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0010g0116 a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0013g0023 a0001c0001t0031g0087 a0001c0001t0031g0092 a0001c0001t0051g0011 a0001c0001t0057g0015 a0001c0001t0063g0013 a0001c0001t0079g0009 a0001c0001t0086g0016 a0001c0001t0090g0093 a0001c0002t0033g0068 a0001c0002t0033g0075 a0001c0002t0085g0076 a0001c0002t0089g0183 a0001c0005t0066g0006 a0002c0004t0032g0074 a0002c0004t0032g0121	27	228	0.1184	-25	c.184 others(39): Show c.184+78_184+102delTCCCCCGCCCACCTCCTTATTTCTG	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CATSPERD_chr19_5715637_5783734	5751197	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp1 HG03098.hp2 others(2): Show HG02559.hp1 HG02976.hp1 HG03098.hp2 HG03453.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0312 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0312 a0003c0004t0001g0058 a0003c0004t0001g0076	5	336	0.0149	-25	c.988 others(40): Show c.988-429_988-405delAAAAAAAAAAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38344661	CCATACCT others(18): Show CCATACCTGTACATACATATATAGTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(87): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18963.hp1 NA18967.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18986.hp1 NA18991.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp2 NA19055.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19091.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0013 a0001c0017 a0001c0026 a0015c0020	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0008t0001 a0001c0009t0001 a0001c0013t0001 a0001c0017t0001 a0001c0026t0001 a0015c0020t0001	a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0103 others(83): Show a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0339 a0001c0001t0001g0352 a0001c0001t0001g0362 a0001c0002t0001g0220 a0001c0002t0001g0237 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0005t0001g0003 a0001c0005t0001g0004 a0001c0005t0001g0005 a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0020 a0001c0005t0001g0021 a0001c0005t0001g0022 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0154 a0001c0005t0001g0155 a0001c0005t0001g0156 a0001c0005t0001g0157 a0001c0005t0001g0159 a0001c0005t0001g0160 a0001c0005t0001g0161 a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0165 a0001c0005t0001g0166 a0001c0005t0001g0167 a0001c0005t0001g0168 a0001c0005t0001g0169 a0001c0005t0001g0170 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0174 a0001c0005t0001g0176 a0001c0005t0001g0177 a0001c0005t0001g0178 a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0001g0182 a0001c0005t0001g0183 a0001c0005t0001g0184 a0001c0005t0001g0186 a0001c0005t0001g0187 a0001c0005t0001g0191 a0001c0005t0001g0192 a0001c0008t0001g0158 a0001c0008t0001g0189 a0001c0008t0001g0190 a0001c0009t0001g0151 a0001c0009t0001g0152 a0001c0009t0001g0194 a0001c0013t0001g0175 a0001c0017t0001g0153 a0001c0026t0001g0188 a0015c0020t0001g0173	90	376	0.2394	-25	c.669 others(40): Show c.669+441_669+465delGTACATACCTGTACATACATATATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116534377	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02602.hp1 others(1): Show HG01256.hp2 HG01258.hp2 HG02602.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0096 a0001c0001t0004g0318 a0001c0001t0005g0011 a0001c0001t0001g0096 a0001c0001t0004g0318 a0001c0001t0005g0011	4	342	0.0117	-25	c.195 others(42): Show c.195+7690_195+7714delATATATATATATATATATTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534379	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00642.hp2 others(41): Show HG00140.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02074.hp1 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03669.hp1 HG03834.hp1 HG04228.hp1 HG06807.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0090 others(39): Show a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0082 a0001c0001t0004g0007 a0001c0001t0004g0064 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0186 a0001c0001t0004g0308 a0001c0001t0004g0311 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0005g0006 a0001c0001t0005g0092 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0321	44	342	0.1287	-25	c.195 others(42): Show c.195+7692_195+7716delATATATATATATATATTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534381	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0099	1	342	0.0029	-25	c.195 others(42): Show c.195+7694_195+7718delATATATATATATATTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116552164	GGTCATTG others(18): Show GGTCATTGAAAGCCATCTTAGATGCT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	342	0.0029	-25	c.196 others(42): Show c.196-6778_196-6754delATTGAAAGCCATCTTAGATGCTGTC	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33494255	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0028 a0001c0010t0028	a0001c0010t0028g0132 a0001c0010t0028g0132	1	298	0.0034	-25	c.34+ others(40): Show c.34+3956_34+3980delATATATATATATATATATTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33537462	CAGAGGGA others(18): Show CAGAGGGAGACCGTGGAAAGAGAGGA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0293 a0001c0001t0014g0293	1	298	0.0034	-25	c.34+ others(42): Show c.34+47177_34+47201delAAAGAGAGGAAGAGGGAGACCGTGG	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544945	CAGAATAG others(18): Show CAGAATAGAATAGAATAGAATAGAAT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02486.hp1 HG02735.hp1 others(3): Show HG02273.hp1 HG02486.hp1 HG02735.hp1 HG03225.hp1 HG03688.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0021 a0001c0002t0020	a0001c0001t0001g0259 a0001c0001t0012g0163 a0001c0001t0012g0165 others(3): Show a0001c0001t0001g0259 a0001c0001t0012g0163 a0001c0001t0012g0165 a0001c0001t0021g0265 a0001c0001t0021g0278 a0001c0002t0020g0271	6	298	0.0201	-25	c.34+ others(42): Show c.34+54689_34+54713delTAGAATAGAATAGAATAGAATAGAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBX4_chr17_79828156_79844440	79831206	TCTAGGGG others(18): Show TCTAGGGGCAGAGGGGGTCTCGGACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	420	0.0024	-25	c.27 others(36): Show c.2728_*2752delTGTCCGAGACCCCCTCTGCCCCTAG	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding		1949		chr17	TogoVar
CC2D2A_chr4_15464882_15606552	15573334	AGGCTGGA others(18): Show AGGCTGGAGTGCAGTGGCGCCATCTC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	344	0.0029	-25	c.359 others(42): Show c.3595-811_3595-787delGGAGTGCAGTGGCGCCATCTCGGCT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCBE1_chr18_59425939_59702423	59658343	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0130 a0001c0001t0006g0130	1	242	0.0041	-25	c.212 others(44): Show c.212+38261_212+38285delATATATATATATATTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658355	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19058.hp1 NA18994.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0037 a0001c0001t0005 a0001c0001t0037	a0001c0001t0005g0198 a0001c0001t0037g0073 a0001c0001t0005g0198 a0001c0001t0037g0073	2	242	0.0083	-25	c.212 others(44): Show c.212+38249_212+38273delATATATATATATATATATATATATA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC110_chr4_185440182_185476733	185443921	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA19083.hp2 HG01243.hp2 NA19083.hp2	a0002 a0018 a0002 a0018	a0002c0002 a0018c0017 a0002c0002 a0018c0017	a0002c0002t0002 a0018c0017t0002 a0002c0002t0002 a0018c0017t0002	a0002c0002t0002g0086 a0018c0017t0002g0045 a0002c0002t0002g0086 a0018c0017t0002g0045	2	428	0.0047	-25	c.15 others(36): Show c.1556_*1580delAAAAAAAAAAAAAAAAAAAAAAAAA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1260		chr4	TogoVar
CCDC112_chr5_115262190_115301654	115298253	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02451.hp2 others(1): Show HG02258.hp2 HG02451.hp1 HG02451.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0077 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0002g0032	4	388	0.0103	-25	c.-17 others(36): Show c.-1735_-1711delTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC112	ENSG00000164221.13	transcript	ENST00000379611.10	protein_coding		1600		chr5	TogoVar
CCDC125_chr5_69275175_69337801	69286208	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02080.hp1 HG02083.hp2 others(14): Show HG01496.hp1 HG02080.hp1 HG02083.hp2 HG02300.hp2 HG02523.hp1 HG03669.hp1 NA18964.hp2 NA18965.hp2 NA18981.hp2 NA18993.hp1 NA18995.hp2 NA19002.hp2 NA19064.hp1 NA19075.hp2 NA19078.hp1 NA19081.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0018 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0008g0014	17	341	0.0499	-25	c.110 others(42): Show c.1100-766_1100-742delATATATATATATATATATATATATA	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding	10/11			chr5	TogoVar
CCDC141_chr2_178824757_179055137	178941958	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01515.hp1 HG02630.hp2 HG01256.hp2 HG01515.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0066 a0001c0001t0002 a0001c0001t0016 a0001c0001t0066	a0001c0001t0002g0167 a0001c0001t0016g0142 a0001c0001t0066g0059 a0001c0001t0002g0167 a0001c0001t0016g0142 a0001c0001t0066g0059	3	274	0.0110	-25	c.897 others(42): Show c.897+2552_897+2576delTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	6/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	179015093	TATATATA others(18): Show TATATATATATAATATATATATAATC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02559.hp1 HG02630.hp2 others(5): Show HG01106.hp2 HG02559.hp1 HG02630.hp2 HG02698.hp2 HG02809.hp1 HG03209.hp2 HG03486.hp2 NA18964.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0033 others(1): Show a0001c0001 a0001c0002 a0001c0033 a0004c0005	a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 others(5): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0033 a0001c0002t0019 a0001c0002t0054 a0001c0033t0052 a0004c0005t0006	a0001c0001t0003g0129 a0001c0001t0010g0155 a0001c0001t0016g0142 others(5): Show a0001c0001t0003g0129 a0001c0001t0010g0155 a0001c0001t0016g0142 a0001c0001t0033g0204 a0001c0002t0019g0182 a0001c0002t0054g0154 a0001c0033t0052g0081 a0004c0005t0006g0157	8	274	0.0292	-25	c.225 others(44): Show c.225+32166_225+32190delGATTATATATATATTATATATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC146_chr7_77117615_77300204	77177933	TTTTTACT others(18): Show TTTTTACTCTGACAGTGGGGTGGAAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 NA20300.hp2 HG03139.hp2 HG03516.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0031 a0007c0024 a0001c0031 a0007c0024	a0001c0031t0001 a0007c0024t0001 a0001c0031t0001 a0007c0024t0001	a0001c0031t0001g0059 a0007c0024t0001g0060 a0007c0024t0001g0067 a0001c0031t0001g0059 a0007c0024t0001g0060 a0007c0024t0001g0067	3	248	0.0121	-25	c.156 others(44): Show c.156+10113_156+10137delTACTCTGACAGTGGGGTGGAAATTT	CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC150_chr2_196634715_196737801	196655123	AGCAGGCA others(18): Show AGCAGGCATTATTTATCTGCACTAAG	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	212	0.0047	-25	c.177 others(42): Show c.177-1500_177-1476delATTTATCTGCACTAAGGCAGGCATT	CCDC150	ENSG00000144395.18	transcript	ENST00000389175.9	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC153_chr11_119185254_119200841	119198670	AATTTAGT others(18): Show AATTTAGTAGTGGGCGCCTGTATACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	428	0.0023	-25	c.-29 others(36): Show c.-2909_-2885delGGTATACAGGCGCCCACTACTAAAT	CCDC153	ENSG00000248712.8	transcript	ENST00000503566.7	protein_coding		2830		chr11	TogoVar
CCDC158_chr4_76308039_76426141	76319456	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02886.hp1 others(1): Show HG01891.hp2 HG02145.hp1 HG02886.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 others(1): Show a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0007g0324	4	348	0.0115	-25	c.327 others(44): Show c.3277+3821_3277+3845delATATATATATATATATTTTTTTTTT	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	24/24			chr4	TogoVar
CCDC169_chr13_36225775_36302814	36253360	ATGGAGTC others(18): Show ATGGAGTCTTGCTCTATCAGCCAGGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(236): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(185): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0004g0104 a0001c0004t0001g0009 a0001c0004t0001g0015 a0001c0004t0001g0035 a0001c0004t0001g0221 a0001c0004t0001g0225 a0001c0004t0001g0237 a0001c0004t0001g0240 a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0266 a0001c0004t0001g0274 a0001c0004t0001g0276 a0001c0004t0001g0280 a0001c0004t0001g0285 a0001c0004t0001g0293 a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0060 a0001c0005t0001g0061 a0001c0005t0001g0062 a0001c0005t0001g0063 a0001c0005t0001g0064 a0001c0005t0001g0065 a0001c0007t0001g0068	239	364	0.6566	-25	c.468 others(40): Show c.468+418_468+442delGCCTGGCTGATAGAGCAAGACTCCA	CCDC169	ENSG00000242715.8	transcript	ENST00000239859.8	protein_coding	6/7			chr13	TogoVar
CCDC170_chr6_151489017_151626193	151617408	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01071.hp2 HG01099.hp1 others(42): Show HG00673.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01517.hp1 HG01891.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18970.hp1 NA18975.hp1 NA19002.hp2 NA19003.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19091.hp2 NA21309.hp1 NA21309.hp2	a0003 a0014 a0022 others(1): Show a0003 a0014 a0022 a0025	a0003c0004 a0003c0008 a0003c0009 others(5): Show a0003c0004 a0003c0008 a0003c0009 a0003c0012 a0003c0023 a0014c0018 a0022c0034 a0025c0036	a0003c0004t0005 a0003c0004t0007 a0003c0004t0020 others(15): Show a0003c0004t0005 a0003c0004t0007 a0003c0004t0020 a0003c0004t0021 a0003c0004t0036 a0003c0004t0039 a0003c0008t0005 a0003c0008t0007 a0003c0008t0038 a0003c0009t0005 a0003c0009t0020 a0003c0009t0040 a0003c0012t0005 a0003c0012t0007 a0003c0023t0005 a0014c0018t0022 a0022c0034t0007 a0025c0036t0005	a0003c0004t0005g0096 a0003c0004t0005g0111 a0003c0004t0005g0145 others(42): Show a0003c0004t0005g0096 a0003c0004t0005g0111 a0003c0004t0005g0145 a0003c0004t0005g0263 a0003c0004t0005g0266 a0003c0004t0005g0290 a0003c0004t0007g0016 a0003c0004t0007g0113 a0003c0004t0007g0114 a0003c0004t0007g0123 a0003c0004t0007g0148 a0003c0004t0020g0110 a0003c0004t0021g0031 a0003c0004t0021g0149 a0003c0004t0036g0034 a0003c0004t0039g0029 a0003c0008t0005g0177 a0003c0008t0007g0075 a0003c0008t0007g0076 a0003c0008t0007g0084 a0003c0008t0007g0112 a0003c0008t0007g0205 a0003c0008t0007g0210 a0003c0008t0007g0226 a0003c0008t0038g0251 a0003c0009t0005g0054 a0003c0009t0005g0108 a0003c0009t0005g0158 a0003c0009t0005g0178 a0003c0009t0005g0179 a0003c0009t0005g0257 a0003c0009t0005g0305 a0003c0009t0005g0317 a0003c0009t0020g0248 a0003c0009t0040g0242 a0003c0012t0005g0161 a0003c0012t0007g0222 a0003c0012t0007g0223 a0003c0012t0007g0224 a0003c0012t0007g0225 a0003c0023t0005g0152 a0003c0023t0005g0153 a0014c0018t0022g0035 a0022c0034t0007g0077 a0025c0036t0005g0138	45	320	0.1406	-25	c.194 others(42): Show c.1948-518_1948-494delTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC171_chr9_15548043_15979037	15743138	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01496.hp2 HG02735.hp1 others(3): Show HG00323.hp2 HG01496.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0188 others(3): Show a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0010g0218	6	266	0.0226	-25	c.205 others(44): Show c.2050-1114_2050-1090delTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC172_chr10_116319448_116385029	116379419	GTGATAGA others(18): Show GTGATAGATATATGAATGGTACCCGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0007 a0001c0001t0012g0007	1	338	0.0030	-25	c.63 others(32): Show c.63_*87delGATAGATATATGAATGGTACCCGTT	CCDC172	ENSG00000182645.6	transcript	ENST00000333254.4	protein_coding	9/9	63	INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC178_chr18_32932406_33445721	33379100	TATATATA others(18): Show TATATATATATTTCCATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01243.hp1 others(28): Show HG00738.hp1 HG00738.hp2 HG01243.hp1 HG01433.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02630.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03710.hp2 NA18960.hp1 NA18960.hp2 NA18988.hp1 NA18988.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0011 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0001 a0005c0005t0003 a0006c0011t0001 a0010c0007t0001	a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0023 others(28): Show a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0042 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0033 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0003c0003t0001g0018 a0003c0003t0001g0022 a0003c0003t0001g0028 a0004c0004t0001g0005 a0005c0005t0003g0007 a0006c0011t0001g0054 a0010c0007t0001g0025	31	58	0.5345	-25	c.209 others(42): Show c.209-8936_209-8912delTATATATATATGGAAATATATATAT	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	5/22			chr18	TogoVar
CCDC180_chr9_97302659_97383751	97369414	TTTATTTT others(18): Show TTTATTTTATGTTATGTTATGTTATG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04199.hp2 HG02735.hp1 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0150 a0002c0002t0002g0105 a0002c0002t0002g0150	2	364	0.0055	-25	c.419 others(42): Show c.4190-503_4190-479delTTTATGTTATGTTATGTTATGTTAT	CCDC180	ENSG00000197816.16	transcript	ENST00000529487.3	protein_coding	31/36		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC186_chr10_114115862_114179203	114149539	GAAGGGAA others(18): Show GAAGGGAAGGGAAGGGAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02572.hp1 HG02622.hp2 others(4): Show HG00738.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0013 a0002c0002t0025 a0002c0002t0007 a0002c0002t0013 a0002c0002t0025	a0002c0002t0007g0079 a0002c0002t0007g0081 a0002c0002t0007g0082 others(4): Show a0002c0002t0007g0079 a0002c0002t0007g0081 a0002c0002t0007g0082 a0002c0002t0007g0083 a0002c0002t0007g0084 a0002c0002t0013g0030 a0002c0002t0025g0026	7	278	0.0252	-25	c.888 others(42): Show c.888+1528_888+1552delTCCTTTCCTTCCCTTCCCTTCCCTT	CCDC186	ENSG00000165813.20	transcript	ENST00000369287.8	protein_coding	4/15			chr10	TogoVar
CCDC186_chr10_114115862_114179203	114149559	AAAGGAAA others(18): Show AAAGGAAAGGGAAGGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01243.hp2 others(9): Show HG00323.hp1 HG00642.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG02698.hp1 HG03041.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0034 a0002c0002t0004 a0002c0002t0034	a0002c0002t0004g0002 a0002c0002t0004g0003 a0002c0002t0004g0034 others(7): Show a0002c0002t0004g0002 a0002c0002t0004g0003 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0002t0034g0042	12	278	0.0432	-25	c.888 others(42): Show c.888+1508_888+1532delCCCTTCCCTTCCCTTCCCTTTCCTT	CCDC186	ENSG00000165813.20	transcript	ENST00000369287.8	protein_coding	4/15			chr10	TogoVar
CCDC187_chr9_136244973_136309094	136245941	CCCCCGCC others(18): Show CCCCCGCCCCCGCCCATGCGTGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0096 a0096	a0096c0211 a0096c0211	a0096c0211t0147 a0096c0211t0147	a0096c0211t0147g0340 a0096c0211t0147g0340	1	400	0.0025	-25	c.76 others(36): Show c.7628_*7652delCTGCCACGCATGGGCGGGGGCGGGG	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding		4031		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136289116	ATGAATGA others(18): Show ATGAATGAGCCTGGAAAACGTTATCT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0009 a0010c0010t0009	a0010c0010t0009g0337 a0010c0010t0009g0337	1	400	0.0025	-25	c.222 others(42): Show c.2222+818_2222+842delAGATAACGTTTTCCAGGCTCATTCA	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	7/25			chr9	TogoVar
CCDC40_chr17_80031642_80105613	80043485	ATTGGAAC others(18): Show ATTGGAACACACCCCTGCGGCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00558.hp1 others(72): Show HG00099.hp2 HG00408.hp2 HG00558.hp1 HG00642.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18952.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp2 NA18999.hp2 NA19004.hp1 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19068.hp1 NA19082.hp2 NA19091.hp1 NA19240.hp1	a0000 a0001 a0002 others(10): Show a0000 a0001 a0002 a0003 a0004 a0006 a0009 a0011 a0012 a0015 a0023 a0026 a0037	a0000c0072 a0001c0004 a0001c0014 others(21): Show a0000c0072 a0001c0004 a0001c0014 a0001c0021 a0001c0038 a0001c0042 a0001c0073 a0001c0074 a0001c0075 a0002c0018 a0002c0020 a0002c0044 a0003c0015 a0003c0016 a0003c0034 a0004c0010 a0006c0027 a0009c0026 a0011c0037 a0012c0028 a0015c0030 a0023c0071 a0026c0045 a0037c0043	a0000c0072t0002 a0001c0004t0002 a0001c0004t0011 others(25): Show a0000c0072t0002 a0001c0004t0002 a0001c0004t0011 a0001c0014t0002 a0001c0014t0003 a0001c0021t0006 a0001c0038t0001 a0001c0042t0001 a0001c0073t0002 a0001c0074t0004 a0001c0075t0010 a0002c0018t0002 a0002c0020t0002 a0002c0044t0002 a0003c0015t0002 a0003c0016t0001 a0003c0034t0001 a0003c0034t0013 a0004c0010t0001 a0006c0027t0002 a0009c0026t0002 a0011c0037t0003 a0012c0028t0001 a0015c0030t0001 a0015c0030t0003 a0023c0071t0002 a0026c0045t0001 a0037c0043t0001	a0000c0072t0002g0308 a0001c0004t0002g0270 a0001c0004t0002g0311 others(72): Show a0000c0072t0002g0308 a0001c0004t0002g0270 a0001c0004t0002g0311 a0001c0004t0002g0341 a0001c0004t0002g0343 a0001c0004t0002g0345 a0001c0004t0002g0348 a0001c0004t0002g0350 a0001c0004t0002g0351 a0001c0004t0002g0353 a0001c0004t0002g0354 a0001c0004t0002g0355 a0001c0004t0002g0356 a0001c0004t0002g0357 a0001c0004t0002g0358 a0001c0004t0002g0360 a0001c0004t0002g0362 a0001c0004t0002g0363 a0001c0004t0002g0364 a0001c0004t0002g0365 a0001c0004t0002g0368 a0001c0004t0002g0369 a0001c0004t0002g0375 a0001c0004t0002g0376 a0001c0004t0002g0377 a0001c0004t0011g0373 a0001c0014t0002g0305 a0001c0014t0002g0361 a0001c0014t0002g0371 a0001c0014t0003g0366 a0001c0014t0003g0367 a0001c0014t0003g0378 a0001c0021t0006g0289 a0001c0021t0006g0292 a0001c0021t0006g0303 a0001c0038t0001g0346 a0001c0038t0001g0349 a0001c0042t0001g0320 a0001c0073t0002g0344 a0001c0074t0004g0319 a0001c0075t0010g0352 a0002c0018t0002g0318 a0002c0020t0002g0296 a0002c0020t0002g0300 a0002c0020t0002g0309 a0002c0020t0002g0310 a0002c0044t0002g0297 a0003c0015t0002g0288 a0003c0015t0002g0290 a0003c0015t0002g0293 a0003c0015t0002g0294 a0003c0015t0002g0295 a0003c0016t0001g0291 a0003c0016t0001g0301 a0003c0016t0001g0302 a0003c0016t0001g0370 a0003c0016t0001g0372 a0003c0034t0001g0131 a0003c0034t0013g0306 a0004c0010t0001g0374 a0006c0027t0002g0298 a0006c0027t0002g0299 a0006c0027t0002g0304 a0009c0026t0002g0312 a0009c0026t0002g0316 a0009c0026t0002g0317 a0011c0037t0003g0347 a0011c0037t0003g0359 a0012c0028t0001g0313 a0012c0028t0001g0314 a0015c0030t0001g0190 a0015c0030t0003g0188 a0023c0071t0002g0307 a0026c0045t0001g0315 a0037c0043t0001g0342	75	378	0.1984	-25	c.552 others(42): Show c.552+3220_552+3244delAACACACCCCTGCGGCCGGCCTTGG	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar

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