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	1417784	TGGCTGTT others(40): Show TGGCTGTTTCTTCTCTTGAGAGTGGGTCACCTGTGTCCTGCTTCTGTG	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0304 a0002c0002t0007g0304	1	360	0.0028	-47	c.92- others(64): Show c.92-18179_92-18133delCTGTGTCCTGCTTCTGTGGGCTGTTTCT TCTCTTGAGAGTGGGTCAC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1429975	GGGTCTGG others(40): Show GGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	360	0.0028	-47	c.92- others(62): Show c.92-5991_92-5945delTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430143	CCAGCAGT others(40): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18990.hp1 NA18945.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0270 a0001c0001t0003g0222 a0001c0001t0003g0270	2	360	0.0056	-47	c.92- others(62): Show c.92-5756_92-5710delTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431109	GGGTCTGG others(40): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0043 a0002c0002t0019g0043	1	360	0.0028	-47	c.92- others(62): Show c.92-4810_92-4764delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431230	CCAGCAGT others(40): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	360	0.0028	-47	c.92- others(62): Show c.92-4622_92-4576delTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431418	TCAGCAGT others(40): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0290 a0001c0003t0004g0290	1	360	0.0028	-47	c.92- others(62): Show c.92-4387_92-4341delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431769	GGGTCTGG others(40): Show GGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	360	0.0028	-47	c.92- others(62): Show c.92-4174_92-4128delTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431912	GGGTCTGG others(40): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02165.hp2 others(2): Show HG00544.hp2 HG02040.hp2 HG02165.hp2 NA18980.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0020 a0002c0002t0056 a0002c0002t0002 a0002c0002t0020 a0002c0002t0056	a0002c0002t0002g0098 a0002c0002t0002g0164 a0002c0002t0002g0166 others(2): Show a0002c0002t0002g0098 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0020g0156 a0002c0002t0056g0337	5	360	0.0139	-47	c.92- others(62): Show c.92-4007_92-3961delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432033	CCAGCAGT others(40): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0310 a0001c0001t0011g0310	1	360	0.0028	-47	c.92- others(62): Show c.92-3843_92-3797delTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432505	TCAGCAGT others(40): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0139 a0002c0002t0053g0139	1	360	0.0028	-47	c.92- others(62): Show c.92-3206_92-3160delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432834	CCAGCAGT others(40): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01496.hp1 HG01884.hp1 others(3): Show HG00438.hp1 HG01496.hp1 HG01884.hp1 HG03017.hp2 NA18990.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0002c0002t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0008 a0002c0002t0033 a0002c0008t0005	a0001c0001t0001g0072 a0001c0001t0003g0222 a0001c0001t0003g0265 others(3): Show a0001c0001t0001g0072 a0001c0001t0003g0222 a0001c0001t0003g0265 a0002c0002t0008g0167 a0002c0002t0033g0279 a0002c0008t0005g0278	6	360	0.0167	-47	c.92- others(62): Show c.92-3006_92-2960delGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433034	GTCTTCTG others(40): Show GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02132.hp2 HG02280.hp2 others(6): Show HG01255.hp1 HG02132.hp2 HG02280.hp2 HG03225.hp1 NA18940.hp1 NA18971.hp2 NA18990.hp2 NA18994.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0019 a0002c0002t0058 a0002c0002t0071	a0001c0001t0001g0063 a0001c0001t0001g0099 a0002c0002t0002g0103 others(6): Show a0001c0001t0001g0063 a0001c0001t0001g0099 a0002c0002t0002g0103 a0002c0002t0005g0269 a0002c0002t0007g0306 a0002c0002t0008g0181 a0002c0002t0019g0043 a0002c0002t0058g0325 a0002c0002t0071g0249	9	360	0.0250	-47	c.92- others(62): Show c.92-2959_92-2913delCTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C13orf46_chr13_113948705_113979076	113974168	TGCAGGCC others(40): Show TGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03669.hp1 HG03704.hp1 others(1): Show HG02258.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0065 a0001c0001t0066 others(1): Show a0001c0001t0016 a0001c0001t0065 a0001c0001t0066 a0001c0001t0075	a0001c0001t0016g0137 a0001c0001t0065g0185 a0001c0001t0066g0109 others(1): Show a0001c0001t0016g0137 a0001c0001t0065g0185 a0001c0001t0066g0109 a0001c0001t0075g0110	4	414	0.0097	-47	c.-21 others(56): Show c.-218_-172delGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAG CCCCGGCCTGC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		93		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113974227	CTGGGGCG others(40): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02615.hp1 HG02896.hp2 HG02897.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0053 a0001c0001t0022g0168 a0001c0001t0022g0182 a0001c0001t0022g0053 a0001c0001t0022g0168 a0001c0001t0022g0182	4	414	0.0097	-47	c.-27 others(56): Show c.-277_-231delACCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		152		chr13	TogoVar
C16orf74_chr16_85702517_85756096	85719785	GAGGGGCC others(40): Show GAGGGGCCACAGGCCACAGCACACACAAAGGCCCTGAGGCAGGAACAT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG03239.hp1 HG02630.hp2 HG02717.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0393 a0001c0001t0001g0395 a0001c0001t0001g0178 a0001c0001t0001g0393 a0001c0001t0001g0395	3	410	0.0073	-47	c.29- others(62): Show c.29-9525_29-9479delATGTTCCTGCCTCAGGGCCTTTGTGTGTGC TGTGGCCTGTGGCCCCT	C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	2/3			chr16	TogoVar
C16orf74_chr16_85702517_85756096	85719832	TAGGGGCC others(40): Show TAGGGGCCACAGGCCACAGCACACACAAAGGCCCTGAGGCAGGAACAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02486.hp1 others(7): Show HG01167.hp2 HG01169.hp1 HG02486.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02976.hp1 HG03688.hp2 NA19030.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0153 a0001c0001t0001g0154 others(7): Show a0001c0001t0001g0052 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0218 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0370 a0001c0001t0001g0376	10	410	0.0244	-47	c.29- others(62): Show c.29-9572_29-9526delCTGTTCCTGCCTCAGGGCCTTTGTGTGTGC TGTGGCCTGTGGCCCCT	C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	2/3			chr16	TogoVar
C19orf12_chr19_29693937_29720261	29695992	TGACACCC others(40): Show TGACACCCAGACACCCAGACAACTGACACCCTGACATCTGGACACCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	418	0.0024	-47	c.66 others(58): Show c.6673_*6719delTGGGTGTCCAGATGTCAGGGTGTCAGTTGTCTGG GTGTCTGGGTGTC	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		2944		chr19	TogoVar
C19orf12_chr19_29693937_29720261	29719561	TAATATAA others(40): Show TAATATAAATATATATATTTATATAATATAAATATATATATTTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	418	0.0024	-47	c.-44 others(58): Show c.-4494_-4448delTATATAAATATATATATTTATATTATATAAATAT ATATATTTATATT	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4301		chr19	TogoVar
C1orf21_chr1_184382029_184634019	184456565	CTCTTTAG others(40): Show CTCTTTAGAAACAGTTATGATAGCACAGGTGCCAGATTTGATATTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01192.hp1 HG01257.hp2 others(7): Show HG00408.hp2 HG01192.hp1 HG01257.hp2 HG02258.hp1 HG02615.hp2 HG02965.hp1 HG03195.hp1 HG03471.hp1 NA18948.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0027	a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0001g0160 others(7): Show a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0226 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0167 a0001c0001t0003g0162 a0001c0001t0027g0231	10	232	0.0431	-47	c.-12 others(68): Show c.-124-20773_-124-20727delTCTTTAGAAACAGTTATGATAGCA CAGGTGCCAGATTTGATATTTTT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C20orf203_chr20_32626625_32678941	32632114	GCGTGGAA others(40): Show GCGTGGAACCCAGAGCAGTCTCCCCAGCCTGGGCTTGCATTTGAGCCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0232 a0001c0001t0032g0232	1	360	0.0028	-47	c.34 others(58): Show c.3409_*3455delAGGCTCAAATGCAAGCCCAGGCTGGGGAGACTGC TCTGGGTTCCACG	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	6/6	18271		chr20	TogoVar
C2CD6_chr2_201482421_201624178	201563422	CCCCTCAC others(40): Show CCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	270	0.0037	-47	c.977 others(64): Show c.977+2260_977+2306delTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGAGGG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C2orf50_chr2_11128128_11156317	11149663	GATCACTG others(40): Show GATCACTGCCTTCCAGCCTGGGTGACAGAATGAGACCCTATCTCAAAA	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	-47	c.55 others(58): Show c.5554_*5600delTCACTGCCTTCCAGCCTGGGTGACAGAATGAGAC CCTATCTCAAAAA	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	3/3	5554	INFO_REALIGN_3_PRIME	chr2	TogoVar
C6orf58_chr6_127572174_127596820	127596038	CTACTGGG others(40): Show CTACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	454	0.0022	-47	c.44 others(58): Show c.4417_*4463delTACTGGGTACATAACGAAATGAAGGCAGAAATAA AGATGTTCTTTGA	C6orf58	ENSG00000184530.9	transcript	ENST00000329722.8	protein_coding		4219		chr6	TogoVar
CA6_chr1_8940868_8980092	8973737	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0436 a0008c0011t0001g0436	1	452	0.0022	-47	c.845 others(62): Show c.845-882_845-836delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13240642	CGCAGTGA others(40): Show CGCAGTGACTGTGTGTGTGGATAGTGACTGTGTGTGCAGTGTCTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp1 HG03453.hp2 HG02280.hp2 HG02895.hp1 HG03453.hp2	a0003 a0020 a0034 a0003 a0020 a0034	a0003c0077 a0020c0078 a0034c0081 a0003c0077 a0020c0078 a0034c0081	a0003c0077t0039 a0020c0078t0019 a0034c0081t0019 a0003c0077t0039 a0020c0078t0019 a0034c0081t0019	a0003c0077t0039g0022 a0020c0078t0019g0151 a0034c0081t0019g0152 a0003c0077t0039g0022 a0020c0078t0019g0151 a0034c0081t0019g0152	3	218	0.0138	-47	c.495 others(66): Show c.4950+4493_4950+4539delACACAGACACTGCACACACAGTCACT ATCCACACACACAGTCACTGC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	31/46			chr19	TogoVar
CACTIN_chr19_3605645_3631790	3605783	CAGACACA others(40): Show CAGACACACACAAGCAGAAACACAACAGACACACAGACACACGCAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0012 a0002c0001t0001g0012	1	408	0.0025	-47	c.60 others(58): Show c.6093_*6139delATCTGCGTGTGTCTGTGTGTCTGTTGTGTTTCTG CTTGTGTGTGTCT	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding		4861		chr19	TogoVar
CACTIN_chr19_3605645_3631790	3605819	ACACACGC others(40): Show ACACACGCAGATAGACACACACAAGCAGAAACACAACAGACACACAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(215): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0012 a0001c0020 a0001c0021 a0002c0001 a0002c0009 a0002c0016 a0002c0018 a0005c0008	a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 others(20): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0003t0003 a0001c0003t0021 a0001c0004t0003 a0001c0004t0004 a0001c0010t0003 a0001c0012t0003 a0001c0020t0003 a0001c0021t0004 a0002c0001t0001 a0002c0001t0013 a0002c0001t0016 a0002c0001t0017 a0002c0001t0018 a0002c0001t0019 a0002c0001t0020 a0002c0009t0001 a0002c0016t0001 a0002c0018t0001 a0005c0008t0001	a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0118 others(89): Show a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0118 a0001c0002t0004g0068 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0002t0004g0179 a0001c0002t0009g0060 a0001c0002t0010g0059 a0001c0003t0003g0003 a0001c0003t0003g0011 a0001c0003t0003g0016 a0001c0003t0003g0036 a0001c0003t0003g0039 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0042 a0001c0003t0003g0070 a0001c0003t0003g0113 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0141 a0001c0003t0021g0130 a0001c0004t0003g0127 a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0004g0035 a0001c0004t0004g0038 a0001c0004t0004g0051 a0001c0004t0004g0126 a0001c0004t0004g0128 a0001c0004t0004g0129 a0001c0004t0004g0138 a0001c0004t0004g0189 a0001c0010t0003g0131 a0001c0010t0003g0134 a0001c0012t0003g0122 a0001c0020t0003g0135 a0001c0021t0004g0125 a0002c0001t0001g0001 a0002c0001t0001g0012 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0026 a0002c0001t0001g0044 a0002c0001t0001g0045 a0002c0001t0001g0046 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0145 a0002c0001t0001g0147 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0155 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0174 a0002c0001t0001g0178 a0002c0001t0001g0181 a0002c0001t0013g0048 a0002c0001t0016g0148 a0002c0001t0017g0153 a0002c0001t0018g0166 a0002c0001t0019g0154 a0002c0001t0020g0146 a0002c0009t0001g0047 a0002c0016t0001g0173 a0002c0018t0001g0144 a0005c0008t0001g0043	218	408	0.5343	-47	c.60 others(58): Show c.6057_*6103delGCTGTGTGTCTGTTGTGTTTCTGCTTGTGTGTGT CTATCTGCGTGTG	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding		4825		chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12522849	AGGGCGGC others(40): Show AGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCGGACG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01884.hp1 others(13): Show HG00621.hp2 HG00735.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG02132.hp1 HG02280.hp2 HG02559.hp2 HG02922.hp2 HG03225.hp1 HG03669.hp2 HG04199.hp1 HG04199.hp2 NA18945.hp1 NA18953.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0037 a0001c0001t0081 a0001c0001t0102 a0001c0001t0103 a0001c0002t0015 a0001c0002t0016 a0001c0002t0067	a0001c0001t0002g0032 a0001c0001t0002g0177 a0001c0001t0004g0025 others(13): Show a0001c0001t0002g0032 a0001c0001t0002g0177 a0001c0001t0004g0025 a0001c0001t0005g0189 a0001c0001t0006g0075 a0001c0001t0009g0072 a0001c0001t0030g0092 a0001c0001t0032g0042 a0001c0001t0035g0106 a0001c0001t0037g0052 a0001c0001t0081g0096 a0001c0001t0102g0010 a0001c0001t0103g0162 a0001c0002t0015g0050 a0001c0002t0016g0165 a0001c0002t0067g0053	16	214	0.0748	-47	c.93- others(64): Show c.93-30340_93-30294delCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGCTGACCCCCCACCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691377	AAATATAT others(40): Show AAATATATATATATATATATATATATAAATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0143 a0001c0001t0026g0143	1	214	0.0047	-47	c.299 others(66): Show c.299+24568_299+24614delAATATATATATATATATATATATATA AATATATATATATATATATTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMTA1_chr1_6780454_7774706	7601142	CGGCTGGC others(40): Show CGGCTGGCCGGGCAGGGGGCTGACCCCCACCTCCCTCCCGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02451.hp2 others(3): Show HG01243.hp1 HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 a0001c0010t0004 a0001c0015t0006	a0001c0001t0001g0007 a0001c0001t0002g0002 a0001c0001t0020g0049 others(3): Show a0001c0001t0001g0007 a0001c0001t0002g0002 a0001c0001t0020g0049 a0001c0002t0001g0020 a0001c0010t0004g0031 a0001c0015t0006g0043	6	58	0.1035	-47	c.511 others(66): Show c.511-39252_511-39206delGCCGGGCAGGGGGCTGACCCCCACCT CCCTCCCGGACGGGGTGGCTG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38731840	CAAATATC others(40): Show CAAATATCTACCAAGTAAGTGCCATTTCATGCTGTGCCCAGTGCCAGG	C C	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0005 a0011c0016t0005	a0011c0016t0005g0263 a0011c0016t0005g0263	1	342	0.0029	-47	c.195 others(64): Show c.1958-664_1958-618delCCTGGCACTGGGCACAGCATGAAATGGC ACTTACTTGGTAGATATTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	18/20			chr19	TogoVar
CAPZA1_chr1_112614832_112676616	112639866	GGGGGGTC others(40): Show GGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18991.hp1 NA19004.hp2 others(2): Show NA18957.hp2 NA18991.hp1 NA19004.hp2 NA19058.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0202 a0001c0001t0010g0203 a0001c0001t0010g0224 others(2): Show a0001c0001t0010g0202 a0001c0001t0010g0203 a0001c0001t0010g0224 a0001c0001t0010g0226 a0001c0001t0010g0253	5	368	0.0136	-47	c.40- others(62): Show c.40-7338_40-7292delTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGG	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344804	ATATAGTA others(40): Show ATATAGTACATACCTGTACATACATATATATGTATATACCTGTACATG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02135.hp1 HG02004.hp2 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0122 a0003c0004t0001g0131 a0003c0004t0001g0122 a0003c0004t0001g0131	2	376	0.0053	-47	c.669 others(62): Show c.669+437_669+483delTATAGTACATACCTGTACATACATATATAT GTATATACCTGTACATG	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28			chr19	TogoVar
CAV1_chr7_116520036_116566179	116555497	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01515.hp1 HG01517.hp1 HG00408.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0245	3	342	0.0088	-47	c.196 others(64): Show c.196-3446_196-3400delGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAGAGAGAGAGAGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555501	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03490.hp1 HG01891.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0002g0324 a0001c0001t0001g0098 a0001c0001t0002g0324	2	342	0.0059	-47	c.196 others(64): Show c.196-3442_196-3396delGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAGAGAGAGAGAAAGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116499551	TGCGCCCC others(40): Show TGCGCCCCGGCGGGGGAGGTGGGCGGGGAGGGGCGGCGGGGCGCCGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	374	0.0027	-47	c.-23 others(56): Show c.-230_-184delGCGCCCCGGCGGGGGAGGTGGGCGGGGAGGGGCGGC GGGGCGCCGGG	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		186		chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88894407	ACACACAT others(40): Show ACACACATGCATACATATACACATGCACACAATGTACACACATGCACG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG03209.hp2 HG02559.hp1 HG02717.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0015 a0001c0009 a0001c0015	a0001c0009t0007 a0001c0009t0015 a0001c0015t0007 a0001c0009t0007 a0001c0009t0015 a0001c0015t0007	a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0015t0007g0115 a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0015t0007g0115	3	284	0.0106	-47	c.380 others(64): Show c.380-1969_380-1923delCGTGCATGTGTGTACATTGTGTGCATGT GTATATGTATGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	GCACACAT others(40): Show GCACACATGCATACATATACACATGCACACAATGTACACACATGCACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp1 NA18522.hp2 others(1): Show HG02258.hp1 HG02896.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0003 a0001c0001t0033 a0001c0002t0003	a0001c0001t0033g0116 a0001c0002t0003g0087 a0001c0002t0003g0090 others(1): Show a0001c0001t0033g0116 a0001c0002t0003g0087 a0001c0002t0003g0090 a0001c0002t0003g0168	4	284	0.0141	-47	c.380 others(64): Show c.380-2016_380-1970delTGTGCATGTGTGTACATTGTGTGCATGT GTATATGTATGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894559	CACACACA others(40): Show CACACACATGCACACACACATGCATACATATACACATGCACACAATGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02717.hp2 others(4): Show HG02258.hp1 HG02559.hp1 HG02717.hp2 HG02896.hp1 HG03209.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0015	a0001c0001t0033 a0001c0002t0003 a0001c0009t0007 others(2): Show a0001c0001t0033 a0001c0002t0003 a0001c0009t0007 a0001c0009t0015 a0001c0015t0007	a0001c0001t0033g0116 a0001c0002t0003g0087 a0001c0002t0003g0090 others(4): Show a0001c0001t0033g0116 a0001c0002t0003g0087 a0001c0002t0003g0090 a0001c0002t0003g0168 a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0015t0007g0115	7	284	0.0247	-47	c.380 others(64): Show c.380-2121_380-2075delACATTGTGTGCATGTGTATATGTATGCA TGTGTGTGTGCATGTGTGT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC148_chr2_158166073_158461753	158461506	TTAAAATG others(40): Show TTAAAATGTGGAAGTGTCTGAGTTATTGTAAGTCATGTGATTGCAAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	264	0.0038	-47	c.-51 others(58): Show c.-5114_-5068delCTTTGCAATCACATGACTTACAATAACTCAGACA CTTCCACATTTTA	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding		4754		chr2	TogoVar
CCDC166_chr8_143701694_143713109	143702818	CTGTGTTT others(40): Show CTGTGTTTTCTGGTTGGTTGTTGGGTCTTTGGTGTTCGAGTCATTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	423	0.0024	-47	c.38 others(58): Show c.3829_*3875delAGAAATGACTCGAACACCAAAGACCCAACAACCA ACCAGAAAACACA	CCDC166	ENSG00000255181.3	transcript	ENST00000542437.1	protein_coding		3875		chr8	TogoVar
CCDC166_chr8_143701694_143713109	143702959	TTGTGTTT others(40): Show TTGTGTTTTCTGGTTGGTTGTTGGGTCTTTGGTGTTCAAGTCGTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp2 HG03704.hp2 others(1): Show HG03688.hp1 HG03688.hp2 HG03704.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	4	423	0.0095	-47	c.36 others(58): Show c.3688_*3734delGGAAACGACTTGAACACCAAAGACCCAACAACCA ACCAGAAAACACA	CCDC166	ENSG00000255181.3	transcript	ENST00000542437.1	protein_coding		3734		chr8	TogoVar
CCDC166_chr8_143701694_143713109	143702979	TTGGGTCT others(40): Show TTGGGTCTTTGGTGTTCAAGTCGTTTCCTGTGTTTTCTGGTTGGTTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(130): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG01071.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006 a0006c0007 a0007c0008 a0008c0009 a0010c0011	a0001c0001t0000 a0002c0002t0000 a0003c0003t0000 others(5): Show a0001c0001t0000 a0002c0002t0000 a0003c0003t0000 a0004c0006t0000 a0006c0007t0000 a0007c0008t0000 a0008c0009t0000 a0010c0011t0000	a0001c0001t0000g0001 a0001c0001t0000g0009 a0001c0001t0000g0013 others(7): Show a0001c0001t0000g0001 a0001c0001t0000g0009 a0001c0001t0000g0013 a0002c0002t0000g0002 a0003c0003t0000g0003 a0004c0006t0000g0006 a0006c0007t0000g0007 a0007c0008t0000g0008 a0008c0009t0000g0010 a0010c0011t0000g0012	133	423	0.3144	-47	c.36 others(58): Show c.3668_*3714delCCAACCAACCAGAAAACACAGGAAACGACTTGAA CACCAAAGACCCA	CCDC166	ENSG00000255181.3	transcript	ENST00000542437.1	protein_coding		3714		chr8	TogoVar
CCDC50_chr3_191324394_191403659	191337142	AATTTTTT others(40): Show AATTTTTTGCGACCTGATACTAGACAGAAAAAAAAAAAAGATTTGTTT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0045 a0003c0004t0045	a0003c0004t0045g0132 a0003c0004t0045g0132	1	406	0.0025	-47	c.49+ others(62): Show c.49+7420_49+7466delATTTTTTGCGACCTGATACTAGACAGAAAA AAAAAAAAGATTTGTTT	CCDC50	ENSG00000152492.15	transcript	ENST00000392455.9	protein_coding	1/11			chr3	TogoVar
CCL17_chr16_57399767_57421063	57403149	ATATATAT others(40): Show ATATATATAATATATATTATTATCTATAATATATATAATATATATTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03579.hp2 HG06807.hp2 HG02257.hp2 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0049 a0001c0003t0001g0022 a0001c0003t0001g0049	3	388	0.0077	-47	c.-17 others(58): Show c.-1746_-1700delTATATATAATATATATTATTATCTATAATATATA TAATATATATTAT	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1617		chr16	TogoVar
CCL3_chr17_36083256_36095143	36092717	CAAATTTT others(40): Show CAAATTTTTATTTCACGCTAATGATAGATTAGCAACTACACAAATTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	381	0.0026	-47	c.-27 others(58): Show c.-2706_-2660delAAAATTTGTGTAGTTGCTAATCTATCATTAGCGT GAAATAAAAATTT	CCL3	ENSG00000277632.2	transcript	ENST00000613922.2	protein_coding		2575		chr17	TogoVar
CCNB1IP1_chr14_20306370_20338279	20310603	GGGGGGCC others(40): Show GGGGGGCCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02293.hp1 HG03669.hp1 HG02056.hp1 HG02293.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0057 a0001c0001t0002g0090 a0001c0001t0002g0001 a0001c0001t0002g0057 a0001c0001t0002g0090	3	418	0.0072	-47	c.90 others(56): Show c.900_*946delACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGGCCCCC	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding		766		chr14	TogoVar
CD200_chr3_112328156_112367812	112342305	CCTTTCTT others(40): Show CCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18747.hp1 HG03239.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	408	0.0049	-47	c.94+ others(62): Show c.94+1330_94+1376delCTTTCTTTCTTTCTTTCTTTCTTTCCTTCT TTCTTTCTTTCTTTCTT	CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD200_chr3_112328156_112367812	112342313	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02040.hp1 HG02083.hp1 others(25): Show HG00140.hp1 HG02040.hp1 HG02083.hp1 HG02132.hp1 HG02486.hp2 HG02723.hp2 HG02965.hp2 HG03139.hp1 HG03540.hp1 HG03831.hp1 HG04184.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18954.hp1 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp2 NA19030.hp1 NA19068.hp1 NA19074.hp1 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0002t0016	a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0185 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0223 a0001c0001t0001g0257 a0001c0001t0002g0160 a0001c0001t0002g0221 a0001c0001t0009g0222 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0102 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0197 a0001c0002t0016g0051	28	408	0.0686	-47	c.94+ others(62): Show c.94+1331_94+1377delTTTCTTTCTTTCTTTCTTTCTTTCCTTCTT TCTTTCTTTCTTTCTTT	CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5			chr3	TogoVar
CD200_chr3_112328156_112367812	112342341	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	408	0.0025	-47	c.94+ others(62): Show c.94+1359_94+1405delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5			chr3	TogoVar

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