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
BRSK2_chr11_1384934_1467689	1431863	CGGTCTGG others(42): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03017.hp2 HG00140.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0008 a0001c0001t0011 a0002c0002t0008	a0001c0001t0011g0310 a0002c0002t0008g0167 a0001c0001t0011g0310 a0002c0002t0008g0167	2	360	0.0056	-49	c.92- others(64): Show c.92-4150_92-4102delTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432194	CGGTCTGG others(42): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19091.hp2 HG03225.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0019 a0001c0001t0001 a0002c0002t0019	a0001c0001t0001g0186 a0002c0002t0019g0043 a0001c0001t0001g0186 a0002c0002t0019g0043	2	360	0.0056	-49	c.92- others(64): Show c.92-3819_92-3771delTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432221	TCAGCAGT others(42): Show TCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0290 a0001c0003t0004g0290	1	360	0.0028	-49	c.92- others(64): Show c.92-3796_92-3748delGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD2_chr19_1980448_2020714	2015747	GGAGGGGA others(42): Show GGAGGGGAGGAGGGAAGGAGGGAGGGGAAAGGAGGAGAGTAGGGGGAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	364	0.0028	-49	c.-93 others(56): Show c.-93_-45delTCCTCCCCCTACTCTCCTCCTTTCCCCTCCCTCCTTCC CTCCTCCCCTC	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		34		chr19	TogoVar
C10orf120_chr10_122692709_122704846	122704649	GTTCCACA others(42): Show GTTCCACAGCAAAGTGCCTCAGACGTCCCGGTTTCCAGGCTGAGCCTTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0025 a0004c0005t0001g0025	1	446	0.0022	-49	c.-49 others(60): Show c.-4908_-4860delTGAAGGCTCAGCCTGGAAACCGGGACGTCTGAGG CACTTTGCTGTGGAA	C10orf120	ENSG00000183559.12	transcript	ENST00000329446.5	protein_coding		4804		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126576715	ACAAGATA others(42): Show ACAAGATATACATATATATGTATATGTATATATACATATAGATAATATGT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0006 a0008c0015t0006	a0008c0015t0006g0157 a0008c0015t0006g0157	1	218	0.0046	-49	c.314 others(68): Show c.314-62825_314-62777delACATATTATCTATATGTATATATACA TATACATATATATGTATATCTTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C11orf21_chr11_2290628_2306918	2303725	AGCTCCAG others(42): Show AGCTCCAGTCCGGCCACTTGTCACTAGGACATGGCAGGAGGATGCCTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0070 a0001c0003t0004g0070	1	426	0.0024	-49	c.-19 others(60): Show c.-1966_-1918delCCCAGGCATCCTCCTGCCATGTCCTAGTGACAAG TGGCCGGACTGGAGC	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		1808		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394178	CGTTTCTT others(42): Show CGTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02809.hp1 HG01884.hp2 HG02257.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	3	422	0.0071	-49	c.57 others(60): Show c.5733_*5781delAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAC	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4353		chr11	TogoVar
C14orf180_chr14_104574764_104595515	104576869	GGAGCTGG others(42): Show GGAGCTGGGCTCAGGACAGCCTCAGCTGGGTGTTCCCACTACAGCAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0056 a0000c0004t0056	a0000c0004t0056g0068 a0000c0004t0056g0068	1	433	0.0023	-49	c.-31 others(60): Show c.-3150_-3102delGAGCTGGGCTCAGGACAGCCTCAGCTGGGTGTTC CCACTACAGCAGAGA	C14orf180	ENSG00000184601.11	transcript	ENST00000557649.6	protein_coding		2894		chr14	TogoVar
C15orf40_chr15_82989817_83016639	82997958	AGGGCTGA others(42): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0136 a0002c0002t0136	a0002c0002t0136g0175 a0002c0002t0136g0175	1	406	0.0025	-49	c.75 others(60): Show c.7590_*7638delCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCC	C15orf40	ENSG00000169609.14	transcript	ENST00000304177.10	protein_coding	4/4	7590		chr15	TogoVar
C1GALT1C1L_chr2_43670151_43681429	43677851	CGGACGGG others(42): Show CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCTCCCCACCTCCCTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	396	0.0025	-49	c.-15 others(60): Show c.-1578_-1530delTGGAGGGAGGTGGGGAGATCAGCCCCCCGCCCGG CCAGCCGCCCCGTCC	C1GALT1C1L	ENSG00000223658.8	transcript	ENST00000475092.4	protein_coding		1423		chr2	TogoVar
C1GALT1C1L_chr2_43670151_43681429	43677901	GGACGGGG others(42): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00621.hp2 others(132): Show HG00140.hp2 HG00323.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18976.hp1 NA18981.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0003c0004 a0004c0005 a0005c0009 a0007c0012 a0008c0013 a0009c0014	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0010t0003 a0003c0004t0001 a0004c0005t0001 a0005c0009t0001 a0007c0012t0001 a0008c0013t0001 a0009c0014t0001	a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0002t0001g0000 others(8): Show a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0010t0003g0000 a0003c0004t0001g0000 a0004c0005t0001g0000 a0005c0009t0001g0000 a0007c0012t0001g0000 a0008c0013t0001g0000 a0009c0014t0001g0000	135	396	0.3409	-49	c.-16 others(60): Show c.-1628_-1580delTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCG GCCAGCCGCCCCGTC	C1GALT1C1L	ENSG00000223658.8	transcript	ENST00000475092.4	protein_coding		1473		chr2	TogoVar
C1orf21_chr1_184382029_184634019	184580117	GTCTTGAA others(42): Show GTCTTGAACATCCCTAAAAATTTTTGCCATGACCTTGACTCTTGACTGGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0165 a0001c0001t0061g0165	1	232	0.0043	-49	c.190 others(68): Show c.190-10619_190-10571delTTGAACATCCCTAAAAATTTTTGCCA TGACCTTGACTCTTGACTGGTTC	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C2_chr6_31922717_31950672	31931897	CCCCCCCA others(42): Show CCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCGGGCGGGGGGCTGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(156): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0013 a0001c0001 a0001c0002 a0009c0013	a0001c0001t0001 a0001c0002t0001 a0009c0013t0001 a0001c0001t0001 a0001c0002t0001 a0009c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0002t0001g0201 a0009c0013t0001g0156	159	395	0.4025	-49	c.443 others(66): Show c.443-1689_443-1641delCGCGGCTGGCCGGGCGGGGGGCTGATCC CCCCACCTCCCTCCCGGACGG	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
C2_chr6_31922717_31950672	31931921	CGCGGCTG others(42): Show CGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	395	0.0025	-49	c.443 others(66): Show c.443-1664_443-1616delTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGA	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
C2orf16_chr2_27532386_27587722	27539944	GGGGCGGC others(42): Show GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0144 a0007c0007t0001g0144	1	326	0.0031	-49	c.144 others(66): Show c.144+2387_144+2435delAGGCGGGGGGCTGATCCCCCCACCTCCC TCCCGGACTGGGCGGCTGGCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf50_chr2_11128128_11156317	11149453	GCCGGCAC others(42): Show GCCGGCACTTTGGGAGGCCGAGGTAAAAGTATCGCTTGAGCTCAGGAGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0030 a0001c0001t0089g0030	1	380	0.0026	-49	c.53 others(60): Show c.5343_*5391delCCGGCACTTTGGGAGGCCGAGGTAAAAGTATCGC TTGAGCTCAGGAGTT	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	3/3	5343		chr2	TogoVar
C4BPB_chr1_207083860_207104993	207099101	TTAGATTC others(42): Show TTAGATTCTCATCTGGGAGTGATGGGAGACAGTGACAGATCATCAGGCAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03540.hp1 NA18522.hp1 HG02886.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114	3	388	0.0077	-49	c.619 others(64): Show c.619-650_619-602delATCATCAGGCACTAGATTCTCATCTGGGAG TGATGGGAGACAGTGACAG	C4BPB	ENSG00000123843.13	transcript	ENST00000367078.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
C7orf50_chr7_992006_1143247	1002880	GGGGAGTC others(42): Show GGGGAGTCCTTGGGTGAGTGGAGTCCTGTGGGTTTGGAGTCCTGTGGGTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	326	0.0061	-49	c.324 others(66): Show c.324-2378_324-2330delTACCCACAGGACTCCAAACCCACAGGAC TCCACTCACCCAAGGACTCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1038240	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCATGCCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18612.hp2 NA18965.hp1 HG00621.hp2 NA18612.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0078	3	326	0.0092	-49	c.130 others(68): Show c.130-28146_130-28098delCGGCATGGCTGGCCAGGTGGGGGGCT GACCCCCCCACCTCCCTCCCGGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1038275	TGGCCAGC others(42): Show TGGCCAGCCATGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	326	0.0031	-49	c.130 others(68): Show c.130-28181_130-28133delGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGCATGGCTGGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1039166	CGCCCCGT others(42): Show CGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02083.hp1 HG02132.hp1 others(23): Show HG01934.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02300.hp2 HG03927.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp1 NA18984.hp1 NA18986.hp2 NA18998.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19055.hp1 NA19056.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0029 a0001c0001t0004g0176 a0001c0001t0004g0177 others(23): Show a0001c0001t0001g0029 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0021g0086 a0001c0001t0028g0201	26	326	0.0798	-49	c.130 others(68): Show c.130-29072_130-29024delAGCTGGCCGGGCGGGGGGCTGACACC CCCACCTCCCTCCCGGACGGGGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1067707	ACCCAGAG others(42): Show ACCCAGAGGTGAGGGTTTGGGGCACAGTCTTCACACAGGCTGGAGTGCAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp2 HG02486.hp1 others(3): Show HG01081.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0205 a0001c0001t0003g0238 a0001c0001t0003g0239 others(3): Show a0001c0001t0003g0205 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0007g0144	6	326	0.0184	-49	c.130 others(68): Show c.130-57613_130-57565delATGCACTCCAGCCTGTGTGAAGACTG TGCCCCAAACCCTCACCTCTGGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1067756	TCCCAGAG others(42): Show TCCCAGAGGTGAGGGTTTGGGGCACAGTCTTCACACAGGCTGGAGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	326	0.0031	-49	c.130 others(68): Show c.130-57662_130-57614delGTGCACTCCAGCCTGTGTGAAGACTG TGCCCCAAACCCTCACCTCTGGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1108199	GGGGCTGT others(42): Show GGGGCTGTGTCCCGCACTGGAGTCCCGCACCCCGGGGGGGAAGCAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01109.hp2 others(5): Show HG00099.hp1 HG00642.hp1 HG01109.hp2 HG02055.hp2 HG02559.hp1 HG02896.hp1 HG02897.hp1 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0020 a0005c0007t0008	a0001c0001t0003g0307 a0001c0001t0005g0306 a0001c0001t0007g0161 others(5): Show a0001c0001t0003g0307 a0001c0001t0005g0306 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0163 a0001c0001t0017g0084 a0001c0001t0020g0001 a0005c0007t0008g0164	8	326	0.0245	-49	c.129 others(68): Show c.129+19009_129+19057delTCCTCTGCTTCCCCCCCGGGGTGCGG GACTCCAGTGCGGGACACAGCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CABCOCO1_chr10_61657929_61771766	61748035	ACTTTTTG others(42): Show ACTTTTTGGAAGACCATTAGCATAGGATGAATATGGAAAAGCCAAGGAGC	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	374	0.0027	-49	c.553 others(68): Show c.553-12023_553-11975delCTTTTTGGAAGACCATTAGCATAGGA TGAATATGGAAAAGCCAAGGAGC	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7			chr10	TogoVar
CACNA1H_chr16_1148106_1226768	1199004	TGCAGTCG others(42): Show TGCAGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG00735.hp1 HG01167.hp2	a0023 a0023	a0023c0029 a0023c0029	a0023c0029t0001 a0023c0029t0001	a0023c0029t0001g0183 a0023c0029t0001g0194 a0023c0029t0001g0183 a0023c0029t0001g0194	2	338	0.0059	-49	c.803 others(64): Show c.803+270_803+318delCGCCCACCGCGCAGTCGCTGCACATATGCC CCACCCCCCACCATGGCTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199052	GCGCAGTC others(42): Show GCGCAGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCTGCCCACCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02809.hp1 HG00438.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0018 a0002c0014t0008 a0002c0002t0018 a0002c0014t0008	a0002c0002t0018g0069 a0002c0014t0008g0267 a0002c0002t0018g0069 a0002c0014t0008g0267	2	338	0.0059	-49	c.803 others(64): Show c.803+308_803+356delCACCATGGCTCTGCCCACCACGCAGTCGCT GCACATATGCCCCACCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199246	TGCAGTCG others(42): Show TGCAGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG02486.hp2 HG03098.hp2	a0002 a0003 a0002 a0003	a0002c0055 a0003c0060 a0002c0055 a0003c0060	a0002c0055t0001 a0003c0060t0039 a0002c0055t0001 a0003c0060t0039	a0002c0055t0001g0215 a0003c0060t0039g0317 a0002c0055t0001g0215 a0003c0060t0039g0317	2	338	0.0059	-49	c.803 others(64): Show c.803+501_803+549delCACCATGGCTCCGCCCACCGCGCAGTCGCT GCACATATGCCCCACCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39653095	GGTGGCTA others(42): Show GGTGGCTAAGAGGGCTGACTGCATTGTGGGTGCACGGAGCCCCCCACACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01109.hp1 others(55): Show HG00408.hp2 HG00639.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012 a0021	a0001c0001 a0001c0002 a0001c0014 others(17): Show a0001c0001 a0001c0002 a0001c0014 a0001c0020 a0001c0022 a0001c0026 a0001c0027 a0001c0030 a0001c0051 a0002c0003 a0003c0005 a0003c0008 a0003c0017 a0003c0024 a0004c0004 a0004c0006 a0005c0007 a0006c0012 a0012c0021 a0021c0038	a0001c0001t0003 a0001c0001t0005 a0001c0001t0036 others(31): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0036 a0001c0001t0052 a0001c0002t0002 a0001c0002t0031 a0001c0014t0001 a0001c0014t0012 a0001c0014t0030 a0001c0020t0001 a0001c0022t0010 a0001c0026t0051 a0001c0026t0056 a0001c0027t0015 a0001c0030t0005 a0001c0051t0001 a0002c0003t0001 a0003c0005t0005 a0003c0005t0008 a0003c0005t0053 a0003c0005t0054 a0003c0008t0005 a0003c0008t0006 a0003c0017t0005 a0003c0024t0005 a0004c0004t0043 a0004c0006t0018 a0004c0006t0037 a0004c0006t0042 a0005c0007t0006 a0005c0007t0060 a0006c0012t0005 a0012c0021t0022 a0021c0038t0001	a0001c0001t0003g0173 a0001c0001t0005g0007 a0001c0001t0005g0050 others(55): Show a0001c0001t0003g0173 a0001c0001t0005g0007 a0001c0001t0005g0050 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0125 a0001c0001t0036g0086 a0001c0001t0052g0075 a0001c0002t0002g0213 a0001c0002t0031g0200 a0001c0014t0001g0045 a0001c0014t0012g0126 a0001c0014t0030g0129 a0001c0020t0001g0146 a0001c0020t0001g0176 a0001c0022t0010g0004 a0001c0026t0051g0169 a0001c0026t0056g0071 a0001c0027t0015g0092 a0001c0027t0015g0136 a0001c0030t0005g0127 a0001c0051t0001g0194 a0002c0003t0001g0033 a0003c0005t0005g0055 a0003c0005t0005g0056 a0003c0005t0005g0079 a0003c0005t0005g0170 a0003c0005t0005g0172 a0003c0005t0008g0044 a0003c0005t0008g0171 a0003c0005t0053g0142 a0003c0005t0054g0066 a0003c0008t0005g0177 a0003c0008t0006g0084 a0003c0008t0006g0085 a0003c0008t0006g0093 a0003c0008t0006g0094 a0003c0008t0006g0124 a0003c0017t0005g0088 a0003c0017t0005g0089 a0003c0024t0005g0174 a0003c0024t0005g0175 a0004c0004t0043g0064 a0004c0006t0018g0178 a0004c0006t0037g0216 a0004c0006t0042g0181 a0005c0007t0006g0096 a0005c0007t0006g0097 a0005c0007t0006g0098 a0005c0007t0006g0099 a0005c0007t0006g0100 a0005c0007t0006g0101 a0005c0007t0006g0112 a0005c0007t0060g0095 a0006c0012t0005g0120 a0012c0021t0022g0072 a0012c0021t0022g0087 a0021c0038t0001g0074	58	236	0.2458	-49	c.199 others(68): Show c.1992+3196_1992+3244delTGGGTGCACGGAGCCCCCCACACAGT GGCTAAGAGGGCTGACTGCATTG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	10/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNB4_chr2_151827771_152104044	151875939	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG03453.hp1 HG02559.hp2 HG02630.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0027 a0001c0003t0016 a0001c0003t0027	a0001c0003t0016g0005 a0001c0003t0016g0088 a0001c0003t0027g0129 a0001c0003t0016g0005 a0001c0003t0016g0088 a0001c0003t0027g0129	3	230	0.0130	-49	c.521 others(64): Show c.521+438_521+486delGAGGTGGGGGAGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CACTIN_chr19_3605645_3631790	3617599	CAGGGCAA others(42): Show CAGGGCAACGCTGGAAACGCCTCCCAGTCTTACAGGAGAGGGCGGGGCCT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19057.hp1 NA19090.hp2 NA18967.hp2 NA19057.hp1 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0039 a0001c0003t0003g0132 a0001c0003t0003g0039 a0001c0003t0003g0132	3	408	0.0074	-49	c.116 others(68): Show c.1162+1227_1162+1275delAGGCCCCGCCCTCTCCTGTAAGACTG GGAGGCGTTTCCAGCGTTGCCCT	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding	6/9			chr19	TogoVar
CALR3_chr19_16474061_16501167	16486138	AAACCCCG others(42): Show AAACCCCGTGTGTACTAAAAATACAAAAATTAGCTGGGAGTGGTGGCGTG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	370	0.0027	-49	c.398 others(64): Show c.398-930_398-882delCACGCCACCACTCCCAGCTAATTTTTGTAT TTTTAGTACACACGGGGTT	CALR3	ENSG00000269058.6	transcript	ENST00000269881.8	protein_coding	3/8			chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12519438	AGGGGGCT others(42): Show AGGGGGCTGACCTCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01099.hp1 others(19): Show HG00558.hp1 HG00558.hp2 HG01099.hp1 HG01433.hp1 HG01891.hp1 HG02040.hp2 HG02074.hp1 HG02132.hp2 HG02602.hp2 HG03209.hp2 HG06807.hp2 NA18942.hp2 NA18971.hp2 NA18974.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0033 a0001c0001t0078 a0001c0001t0080 a0001c0001t0085 a0001c0001t0094 a0001c0001t0099 a0001c0001t0101 a0001c0001t0104 a0001c0002t0004 a0001c0002t0015 a0001c0002t0021 a0001c0003t0007	a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0095 others(19): Show a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0095 a0001c0001t0002g0196 a0001c0001t0003g0195 a0001c0001t0006g0152 a0001c0001t0007g0068 a0001c0001t0007g0078 a0001c0001t0009g0213 a0001c0001t0019g0086 a0001c0001t0033g0185 a0001c0001t0078g0199 a0001c0001t0080g0160 a0001c0001t0085g0110 a0001c0001t0094g0094 a0001c0001t0099g0043 a0001c0001t0101g0156 a0001c0001t0104g0089 a0001c0002t0004g0091 a0001c0002t0015g0069 a0001c0002t0021g0048 a0001c0003t0007g0063	22	214	0.1028	-49	c.93- others(66): Show c.93-33775_93-33727delTCCCCACCTCCCTCCCGGATGGGGTGGC TGGCCAGGCGGGGGGCTGACC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691364	TATATATA others(42): Show TATATATATATATAAATATATATATATATATATATATATAAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0128 a0001c0001t0076g0128	1	214	0.0047	-49	c.299 others(68): Show c.299+24555_299+24603delATATATATATATAAATATATATATAT ATATATATATATAAATATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12801305	CTATCTAT others(42): Show CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG06807.hp2 HG02280.hp1 HG02559.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0085 a0001c0001t0102 a0001c0001t0039 a0001c0001t0085 a0001c0001t0102	a0001c0001t0039g0157 a0001c0001t0085g0110 a0001c0001t0102g0010 a0001c0001t0039g0157 a0001c0001t0085g0110 a0001c0001t0102g0010	3	214	0.0140	-49	c.641 others(68): Show c.641+10113_641+10161delTATCTATCTTATCTATCTATCTATCT ATCTATCTATCTATCTATCTATC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMTA1_chr1_6780454_7774706	7114745	CTGAGTCC others(42): Show CTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02622.hp1 others(2): Show HG01884.hp2 HG02055.hp2 HG02622.hp1 HG02647.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0016	a0001c0001t0002 a0001c0002t0003 a0001c0003t0005 others(2): Show a0001c0001t0002 a0001c0002t0003 a0001c0003t0005 a0001c0006t0001 a0001c0016t0024	a0001c0001t0002g0009 a0001c0002t0003g0006 a0001c0003t0005g0028 others(2): Show a0001c0001t0002g0009 a0001c0002t0003g0006 a0001c0003t0005g0028 a0001c0006t0001g0055 a0001c0016t0024g0053	5	58	0.0862	-49	c.302 others(68): Show c.302+24122_302+24170delCCTGAGACCCAGGAGAGCTGATGGTG GTGTTCCAGTGTGAGTCCGAAAA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN5_chr11_77061971_77131155	77098499	AGGGCTGA others(42): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0045 a0001c0001t0005 a0001c0001t0045	a0001c0001t0005g0196 a0001c0001t0045g0351 a0001c0001t0005g0196 a0001c0001t0045g0351	2	382	0.0052	-49	c.297 others(66): Show c.297+4716_297+4764delAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPZA1_chr1_112614832_112676616	112639833	GCCCGGCC others(42): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0310 a0001c0001t0014g0310	1	368	0.0027	-49	c.40- others(64): Show c.40-7328_40-7280delACCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCC	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA1_chr1_112614832_112676616	112639882	ACCCGGCC others(42): Show ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01891.hp2 others(3): Show HG00639.hp1 HG00642.hp1 HG01891.hp2 HG02109.hp1 HG02723.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0134 others(2): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0002t0002g0008	6	368	0.0163	-49	c.40- others(64): Show c.40-7213_40-7165delGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCC	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA1_chr1_112614832_112676616	112640156	ACCCGGCC others(42): Show ACCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG02572.hp1 others(6): Show HG01243.hp1 HG01433.hp1 HG02572.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0004c0006t0003 a0001c0001t0002 a0001c0001t0003 a0004c0006t0003	a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0022 others(6): Show a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0261 a0001c0001t0003g0262 a0004c0006t0003g0263	9	368	0.0245	-49	c.40- others(64): Show c.40-7038_40-6990delAGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCC	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CASK_chrX_41509934_41928554	41612621	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGACCCCC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0066 a0001c0005t0001g0066	1	164	0.0061	-49	c.103 others(68): Show c.1034-2645_1034-2597delGGGGGTCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	11/26			chrX	TogoVar
CASP8_chr2_201255536_201292709	201283802	GGCCGGGC others(42): Show GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	386	0.0026	-49	c.803 others(65): Show c.803-1004_803-956delGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGCCGGGCGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPERG_chr19_38330830_38375943	38344802	ATATATAG others(42): Show ATATATAGTACATACCTGTACATACATATATATGTATATACCTGTACATG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01123.hp1 HG01192.hp2 others(12): Show HG00609.hp2 HG01123.hp1 HG01192.hp2 HG02015.hp1 HG02300.hp2 HG02615.hp1 NA18747.hp1 NA18950.hp1 NA18989.hp1 NA18997.hp1 NA19002.hp1 NA19043.hp1 NA19062.hp2 NA19070.hp2 NA19085.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0002 a0003c0004t0001g0109 a0003c0004t0001g0110 others(11): Show a0003c0004t0001g0002 a0003c0004t0001g0109 a0003c0004t0001g0110 a0003c0004t0001g0111 a0003c0004t0001g0118 a0003c0004t0001g0119 a0003c0004t0001g0120 a0003c0004t0001g0121 a0003c0004t0001g0123 a0003c0004t0001g0132 a0003c0004t0001g0133 a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136	15	376	0.0399	-49	c.669 others(64): Show c.669+435_669+483delTATATAGTACATACCTGTACATACATATAT ATGTATATACCTGTACATG	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28			chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88889972	CGCCCCGT others(42): Show CGCCCCGTGATTCCTCCTCCTCCAGGGGACGTTTCAAATCCCTGGACGAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19063.hp1 HG00673.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0208 a0001c0001t0001g0182 a0001c0001t0001g0208	2	284	0.0070	-49	c.711 others(66): Show c.711+1861_711+1909delATCGTCCAGGGATTTGAAACGTCCCCTG GAGGAGGAGGAATCACGGGGC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBS_chr21_43048191_43080835	43059054	AGGGACCG others(42): Show AGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03669.hp1 HG04199.hp2 HG03041.hp2 HG03669.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0004 a0001c0002t0001 a0002c0003t0004	a0001c0002t0001g0065 a0001c0002t0001g0167 a0002c0003t0004g0108 a0001c0002t0001g0065 a0001c0002t0001g0167 a0002c0003t0004g0108	3	298	0.0101	-49	c.122 others(65): Show c.1223+123_1224-87delCGTGGCCTGTGCTGGCCCTGCCCAGTGTG ACAGGCAGGAGAGCGGTCCC	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	13/16			chr21	TogoVar
CCDC126_chr7_23592382_23649708	23636994	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAAGGGGGAGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19079.hp1 NA18944.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0161 a0001c0001t0001g0113 a0001c0001t0001g0161	2	380	0.0053	-49	c.239 others(66): Show c.239-5911_239-5863delAGGGGGAGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGA	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC126_chr7_23592382_23649708	23637191	CCGGGAGG others(42): Show CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG02055.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0014 a0001c0003t0001g0188 a0001c0001t0001g0014 a0001c0003t0001g0188	2	380	0.0053	-49	c.239 others(66): Show c.239-5720_239-5672delTCAGCCCCCCGCCCGGCCGGCCGCCCCG TTCGGGAGGGAGGTGGGGGGG	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC126_chr7_23592382_23649708	23637465	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	380	0.0026	-49	c.239 others(66): Show c.239-5445_239-5397delGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGG	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC188_chr22_20143416_20156055	20150309	TGGGGCAG others(42): Show TGGGGCAGGGGCAGGGGCGCCAGGTGGTGGGTGGGGCTGGGGCTGGGGCA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0026 a0001c0004t0001g0026	1	408	0.0025	-49	c.520 others(63): Show c.520-108_520-60delTGCCCCAGCCCCAGCCCCACCCACCACCTGG CGCCCCTGCCCCTGCCCC	CCDC188	ENSG00000234409.7	transcript	ENST00000439765.4	protein_coding	1/8			chr22	TogoVar

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