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
C4orf36_chr4_86871205_86897422	86890207	G G	GAGGGAGG others(37): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0180 a0005c0005t0005g0180	1	386	0.0026	44	c.65+ others(59): Show c.65+1248_65+1249insTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCT	C4orf36	ENSG00000163633.12	transcript	ENST00000295898.8	protein_coding	2/4			chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	358	0.0028	44	c.715 others(61): Show c.715-1621_715-1620insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C6orf132_chr6_42096119_42147620	42099011	G G	GAAAGGAG others(37): Show GAAAGGAGCCAGTGTGCAAGATAGAGGATCGGAGCACCTTGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0337 a0001c0001t0003g0337	1	364	0.0028	44	c.47 others(55): Show c.4706_*4749dupAGAACAAGGTGCTCCGATCCTCTATCTTGCACAC TGGCTCCTTT	C6orf132	ENSG00000188112.10	transcript	ENST00000341865.9	protein_coding		2107		chr6	TogoVar
C7orf50_chr7_992006_1143247	1060001	T T	TTAGTGGG others(37): Show TTAGTGGGGCGGGTCTTAGTGGGGCGGGTCTTAGTGGGGCGGGTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	326	0.0031	44	c.130 others(63): Show c.130-49859_130-49858insGACCCGCCCCACTAAGACCCGCCCCA CTAAGACCCGCCCCACTA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128971	C C	CGTCACCC others(37): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	326	0.0031	44	c.-1- others(59): Show c.-1-1586_-1-1585insTGGGATGAGCCGAGATGGCGCCACTGCACT CCAGCCCGGGTGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128971	C C	CGTCACCC others(37): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	326	0.0031	44	c.-1- others(59): Show c.-1-1586_-1-1585insTGAGATGAGCCGAGATGGCGCCACTGCACT CCAGCCCGGGTGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1136437	T T	TAAATATA others(37): Show TAAATATATATAAACATATATATAAATATATAAACATATATAAAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp1 HG02559.hp2 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0202 a0002c0002t0018g0203 a0002c0002t0018g0202 a0002c0002t0018g0203	2	326	0.0061	44	c.-2+ others(57): Show c.-2+877_-2+878insGTTTATATATGTTTATATATTTATATATATGT TTATATATATTT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68774944	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0043 a0001c0005t0001g0043	1	128	0.0078	44	c.140 others(63): Show c.1405-1432_1405-1431insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531543	A A	AACACTAG others(37): Show AACACTAGATCCGCGTGTTCAGGCACGGCAGAAGGGCACAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	398	0.0025	44	c.-26 others(55): Show c.-2628_-2627insGCCCCTGTGCCCTTCTGCCGTGCCTGAACACGCG GATCTAGTGT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2433		chr8	TogoVar
C9_chr5_39279140_39369495	39333608	C C	CTCTCCGT others(37): Show CTCTCCGTCTCCCTCTCCCCTTTCCATGGTCTCCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01261.hp1 others(14): Show HG00408.hp2 HG01123.hp1 HG01261.hp1 HG01515.hp1 HG02080.hp2 HG02129.hp1 HG02486.hp2 HG02896.hp1 HG03041.hp1 HG03209.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18957.hp1 NA18964.hp1 NA18972.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0051 others(14): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0116 a0001c0001t0001g0150 a0001c0001t0001g0203 a0001c0001t0001g0236 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0265 a0002c0002t0001g0304 a0002c0002t0001g0347 a0002c0002t0001g0356	17	394	0.0432	44	c.477 others(61): Show c.477-1795_477-1794insAGAGGGAGAGGGGAGACCATGGAAAGGG GAGAGGGAGACGGAGA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
C9orf57_chr9_72046376_72065613	72055374	C C	CTCCCTCC others(37): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	450	0.0022	44	c.280 others(59): Show c.280+699_280+700insAGGAAGGAAGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGA	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	4/4			chr9	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	452	0.0022	44	c.29 others(55): Show c.2996_*2997insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGGAAGG others(37): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02683.hp2 HG03927.hp2 HG01358.hp1 HG02683.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0238 a0001c0002t0003g0005 a0001c0002t0003g0033 a0001c0001t0002g0238 a0001c0002t0003g0005 a0001c0002t0003g0033	3	324	0.0093	44	c.-31 others(63): Show c.-31-22779_-31-22778insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CABCOCO1_chr10_61657929_61771766	61680652	T T	TTATGTTA others(37): Show TTATGTTATACATGTATAACATATATGTTATACATGTATAACATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(73): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18950.hp1 NA18959.hp1 NA18963.hp2 NA18970.hp1 NA18973.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19054.hp1 NA19058.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19087.hp1 NA19089.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0002c0005 a0003c0010 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0004t0001 a0001c0006t0001 a0002c0005t0002 a0003c0010t0001 a0005c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(70): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0291 a0001c0001t0002g0162 a0001c0001t0002g0206 a0001c0001t0002g0235 a0001c0001t0002g0240 a0001c0001t0005g0217 a0001c0001t0005g0236 a0001c0001t0005g0250 a0001c0001t0005g0255 a0001c0001t0010g0252 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0004t0001g0192 a0001c0004t0001g0202 a0001c0004t0001g0204 a0001c0004t0001g0228 a0001c0006t0001g0218 a0001c0006t0001g0221 a0002c0005t0002g0163 a0003c0010t0001g0175 a0005c0007t0001g0248	76	374	0.2032	44	c.165 others(59): Show c.165-487_165-444dupGTTATACATGTATAACATATATGTTATACA TGTATAACATATAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABLES2_chr20_62383634_62412285	62407350	C C	CACACAAA others(37): Show CACACAAAGTCCGCCGCTCCCTGGCCAGCGCGCCGCCGCGCCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0167 a0001c0001t0006g0167	1	400	0.0025	44	c.-75 others(51): Show c.-75_-74insCCAGGCGCGGCGGCGCGCTGGCCAGGGAGCGGCGGACT TTGTGT	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding		66		chr20	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(37): Show AGGGCGGGGGGGCGGCGGGGGCGGCGGGGGCGGGGGGGGCGGCGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03491.hp2 HG03492.hp2 HG01496.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	3	420	0.0071	44	c.121 others(59): Show c.121+295_121+296insCGGGGGCGGGGGGGGCGGCGGGGGCGGGGG GGCGGCGGGGGCGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACFD1_chr9_133454978_133475848	133460463	C C	CGGGGGGG others(37): Show CGGGGGGGCGGCGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19001.hp2 NA19068.hp2 HG00642.hp1 NA19001.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0009g0026 a0001c0001t0002g0026 a0001c0001t0002g0043 a0001c0001t0009g0026	3	420	0.0071	44	c.121 others(59): Show c.121+295_121+296insCGGGGGCGGGGGGGCGGCGGGGGCGGGGGG GGCGGCGGGGGCGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13255737	T T	TTCCCTCC others(37): Show TTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02809.hp1 others(4): Show HG02055.hp1 HG02055.hp2 HG02809.hp1 HG02976.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp2	a0001 a0003 a0044 a0001 a0003 a0044	a0001c0005 a0001c0006 a0001c0126 others(3): Show a0001c0005 a0001c0006 a0001c0126 a0003c0035 a0003c0084 a0044c0112	a0001c0005t0005 a0001c0006t0008 a0001c0126t0022 others(4): Show a0001c0005t0005 a0001c0006t0008 a0001c0126t0022 a0003c0035t0016 a0003c0035t0024 a0003c0084t0016 a0044c0112t0012	a0001c0005t0005g0135 a0001c0006t0008g0148 a0001c0126t0022g0006 others(4): Show a0001c0005t0005g0135 a0001c0006t0008g0148 a0001c0126t0022g0006 a0003c0035t0016g0076 a0003c0035t0024g0005 a0003c0084t0016g0145 a0044c0112t0012g0206	7	218	0.0321	44	c.459 others(61): Show c.4591-479_4591-478insGAGAAGGAGGGAGGGAAGGAGGGAGGGA AGGAGGGAGGGAGGGA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	28/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0136 a0001c0006t0029g0136	1	218	0.0046	44	c.-38 others(55): Show c.-3812_-3811insCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138113955	G G	GAGGTGCC others(37): Show GAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18947.hp1 NA18951.hp1 others(5): Show HG04199.hp2 NA18947.hp1 NA18951.hp1 NA18990.hp2 NA19007.hp2 NA19070.hp1 NA19080.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0002c0001 a0002c0011 a0001c0017 a0002c0001 a0002c0011	a0001c0017t0002 a0002c0001t0002 a0002c0001t0003 others(1): Show a0001c0017t0002 a0002c0001t0002 a0002c0001t0003 a0002c0011t0002	a0001c0017t0002g0193 a0002c0001t0002g0190 a0002c0001t0003g0023 others(5): Show a0001c0017t0002g0193 a0002c0001t0002g0190 a0002c0001t0003g0023 a0002c0011t0002g0172 a0002c0011t0002g0191 a0002c0011t0002g0192 a0002c0011t0002g0194 a0002c0011t0002g0244	8	248	0.0323	44	c.553 others(61): Show c.5537-364_5537-321dupTCCTTGTGGGAGACGTGAGGGAGCGCAG GAAGGTGCCCAACTCC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG03831.hp1 others(3): Show HG00323.hp2 HG01069.hp2 HG03831.hp1 HG06807.hp1 NA19043.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0026 a0002c0002	a0001c0001t0008 a0001c0004t0002 a0001c0006t0002 others(2): Show a0001c0001t0008 a0001c0004t0002 a0001c0006t0002 a0001c0026t0042 a0002c0002t0020	a0001c0001t0008g0179 a0001c0004t0002g0101 a0001c0004t0002g0199 others(3): Show a0001c0001t0008g0179 a0001c0004t0002g0101 a0001c0004t0002g0199 a0001c0006t0002g0205 a0001c0026t0042g0025 a0002c0002t0020g0129	6	206	0.0291	44	c.620 others(61): Show c.6208+743_6208+744insATATATATATATATATATATATATATAT ATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1192875	G G	GCTGGTTA others(37): Show GCTGGTTAGCTTTAATTTATTAATGCAAACAATACCTAACAAACC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0017 a0017	a0017c0064 a0017c0064	a0017c0064t0032 a0017c0064t0032	a0017c0064t0032g0276 a0017c0064t0032g0276	1	338	0.0030	44	c.300 others(61): Show c.300-2091_300-2090insAGCTTTAATTTATTAATGCAAACAATAC CTAACAAACCCTGGTT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(37): Show GTGTATATATATATATATTGCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG01123.hp2 others(18): Show HG00099.hp1 HG00423.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03471.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0029 a0001c0031 a0001c0043 a0002c0020	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0007t0001 a0001c0009t0008 a0001c0029t0001 a0001c0031t0001 a0001c0043t0001 a0002c0020t0001	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0012g0063 others(18): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0012g0063 a0001c0002t0001g0012 a0001c0002t0001g0040 a0001c0002t0001g0070 a0001c0002t0001g0081 a0001c0002t0001g0115 a0001c0002t0004g0001 a0001c0003t0001g0026 a0001c0003t0001g0084 a0001c0003t0006g0064 a0001c0004t0001g0022 a0001c0005t0001g0052 a0001c0005t0003g0055 a0001c0007t0001g0043 a0001c0009t0008g0077 a0001c0029t0001g0096 a0001c0031t0001g0032 a0001c0043t0001g0051 a0002c0020t0001g0021	21	118	0.1780	44	c.382 others(63): Show c.382-24831_382-24830insGTATATATATATATATTGCTATATAT ATATATATATATATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822832	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	118	0.0085	44	c.139 others(63): Show c.1398+5964_1398+5965insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTCTTTCTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18948.hp1 NA18991.hp1 HG00408.hp2 NA18948.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0035 a0001c0001t0006g0052 a0001c0001t0009g0056 a0001c0001t0006g0035 a0001c0001t0006g0052 a0001c0001t0009g0056	3	430	0.0070	44	c.545 others(59): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19085.hp2 HG00738.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0049 a0001c0001t0006g0054 a0001c0001t0006g0049 a0001c0001t0006g0054	2	430	0.0047	44	c.545 others(59): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0060 a0001c0001t0006g0060	1	430	0.0023	44	c.545 others(59): Show c.545-745_545-744insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG02258.hp1 others(10): Show HG00140.hp1 HG01243.hp1 HG02258.hp1 HG02258.hp2 HG02886.hp2 HG03130.hp1 HG03239.hp1 HG03492.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18977.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0021 a0001c0001t0023 a0001c0001t0043 a0001c0001t0047 a0001c0004t0033	a0001c0001t0001g0115 a0001c0001t0002g0137 a0001c0001t0002g0144 others(10): Show a0001c0001t0001g0115 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0003g0050 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0005g0128 a0001c0001t0010g0146 a0001c0001t0021g0126 a0001c0001t0023g0006 a0001c0001t0043g0060 a0001c0001t0047g0038 a0001c0004t0033g0110	13	146	0.0890	44	c.62- others(63): Show c.62-294650_62-294649insATATATATATATATATATATATATAT ATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATGTA others(37): Show CATATGTATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01175.hp1 others(5): Show HG00280.hp1 HG00423.hp2 HG01175.hp1 HG02015.hp2 HG02559.hp2 HG02922.hp2 HG03491.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0045 a0001c0003t0024	a0001c0001t0001g0065 a0001c0001t0003g0062 a0001c0001t0007g0082 others(5): Show a0001c0001t0001g0065 a0001c0001t0003g0062 a0001c0001t0007g0082 a0001c0001t0014g0021 a0001c0001t0014g0118 a0001c0001t0015g0077 a0001c0001t0045g0134 a0001c0003t0024g0004	8	146	0.0548	44	c.62- others(63): Show c.62-294658_62-294657insGTATATATATATATATATATATATAT ATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568469	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	146	0.0069	44	c.62- others(63): Show c.62-158052_62-158051insTTCTTTCTTTCTCTTTCTCTCTCTCT TTCTTTCTTTCTTTCTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85628580	C C	CACATATA others(37): Show CACATATATATACATATATACACACACATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 NA20300.hp1 HG02280.hp2 HG02886.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0052 a0001c0002t0048 a0001c0001t0002 a0001c0001t0052 a0001c0002t0048	a0001c0001t0002g0144 a0001c0001t0052g0002 a0001c0002t0048g0096 a0001c0001t0002g0144 a0001c0001t0052g0002 a0001c0002t0048g0096	3	146	0.0206	44	c.62- others(61): Show c.62-97919_62-97918insCACATATATATACATATATATACATATA TATACATATATACACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122705957	T T	TATTATAT others(37): Show TATTATATAATATAATATATATTATATTATATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01257.hp2 NA18953.hp1 others(3): Show HG00609.hp1 HG01257.hp2 NA18953.hp1 NA18982.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0002	a0001c0002t0001g0017 a0001c0002t0001g0054 a0001c0002t0002g0051 others(3): Show a0001c0002t0001g0017 a0001c0002t0001g0054 a0001c0002t0002g0051 a0001c0002t0005g0036 a0001c0004t0002g0033 a0001c0004t0002g0056	6	126	0.0476	44	c.453 others(63): Show c.453+30997_453+30998insTATATATTATATTATATAATATAATA TATATTATATTATATAAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122705957	T T	TATTATAT others(37): Show TATTATATAATATAATATATTATATATTATATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	126	0.0079	44	c.453 others(63): Show c.453+30997_453+30998insTATATATTATATTATATAATATATAA TATATTATATTATATAAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp2 NA20905.hp2 NA18982.hp1 NA18982.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0231 a0002c0002t0001g0236 a0002c0002t0004g0224 a0002c0002t0001g0231 a0002c0002t0001g0236 a0002c0002t0004g0224	3	328	0.0092	44	c.912 others(61): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATATTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	328	0.0031	44	c.912 others(61): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATTTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCR_chr7_93419486_93579724	93554769	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	292	0.0034	44	c.-27 others(63): Show c.-27+19519_-27+19520insTATATATATATATATATATATATATA TATATATATATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	452	0.0022	44	c.-38 others(55): Show c.-3847_-3846insTATATATATATATATATATATATATATATATATA TATATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521241	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATCTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0000 a0001c0002t0021g0000	1	452	0.0022	44	c.-38 others(55): Show c.-3845_-3844insTATATATATATATATATATATATATATATATATA TATCTATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3719		chr10	TogoVar
CALN1_chr7_71774491_72417338	72054437	A A	ATATATAT others(37): Show ATATATATACATATATACATATATATATACGTGTATATATACACG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	142	0.0070	44	c.389 others(63): Show c.389-30669_389-30668insCGTGTATATATACACGTATATATATA TGTATATATGTATATATA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209270	C C	CTCCTTCC others(37): Show CTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	142	0.0070	44	c.244 others(63): Show c.244+69415_244+69416insAAGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAAAGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0088 a0001c0001t0034g0088	1	142	0.0070	44	c.244 others(61): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAATA others(37): Show AAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA20752.hp1 HG01934.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0057 a0001c0001t0002 a0001c0001t0057	a0001c0001t0002g0036 a0001c0001t0057g0138 a0001c0001t0002g0036 a0001c0001t0057g0138	2	142	0.0141	44	c.244 others(61): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATATATATATTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	142	0.0070	44	c.120 others(63): Show c.120-59716_120-59715insGACAGACACACACACACACACACACA CACACACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12401136	A A	ATTATATA others(37): Show ATTATATATATATTTTATATATATATAATATATGTATTATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp2 HG02257.hp1 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0044 a0001c0002t0010 a0001c0002t0044	a0001c0002t0010g0007 a0001c0002t0044g0112 a0001c0002t0010g0007 a0001c0002t0044g0112	2	214	0.0094	44	c.92+ others(61): Show c.92+51269_92+51270insGTTATATATATATTTTATATATATATAA TATATGTATTATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12401229	A A	ATATATAT others(37): Show ATATATATTTTATATATATATAATATATGTATTATATATATTATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0109 a0001c0001t0106g0109	1	214	0.0047	44	c.92+ others(61): Show c.92+51391_92+51434dupGTATTATATATATTATGTATATATTTTA TATATATATAATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623343	T T	TCCTTCCT others(37): Show TCCTTCCTTCCTCCCTCCCTCCCTCCCTTCTTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	214	0.0047	44	c.225 others(63): Show c.225-43390_225-43389insTCCTTCCTCCCTCCCTCCCTCCCTTC TTTCCTTCCTCCCTCCCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12694084	T T	TATAATAT others(37): Show TATAATATATATTATATATTATATAATATATAATATATATTATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp2 others(65): Show HG00099.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18959.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19084.hp1 NA19085.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0058 a0001c0001t0059 a0001c0001t0070 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0087 a0001c0001t0090 a0001c0001t0094 a0001c0001t0097 a0001c0001t0099 a0001c0001t0109 a0001c0001t0110 a0001c0002t0004 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0021 a0001c0002t0024 a0001c0002t0052 a0001c0002t0055 a0001c0002t0068 a0001c0003t0007 a0001c0003t0022	a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0064 others(65): Show a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0002g0196 a0001c0001t0003g0141 a0001c0001t0004g0017 a0001c0001t0004g0025 a0001c0001t0005g0015 a0001c0001t0005g0062 a0001c0001t0005g0137 a0001c0001t0006g0152 a0001c0001t0006g0187 a0001c0001t0006g0194 a0001c0001t0007g0183 a0001c0001t0009g0072 a0001c0001t0009g0100 a0001c0001t0009g0213 a0001c0001t0014g0147 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0018g0090 a0001c0001t0018g0190 a0001c0001t0019g0084 a0001c0001t0030g0092 a0001c0001t0035g0106 a0001c0001t0037g0011 a0001c0001t0037g0052 a0001c0001t0038g0175 a0001c0001t0039g0014 a0001c0001t0040g0081 a0001c0001t0041g0080 a0001c0001t0042g0085 a0001c0001t0046g0074 a0001c0001t0047g0066 a0001c0001t0049g0101 a0001c0001t0058g0093 a0001c0001t0059g0192 a0001c0001t0070g0123 a0001c0001t0074g0060 a0001c0001t0077g0184 a0001c0001t0078g0199 a0001c0001t0080g0160 a0001c0001t0081g0096 a0001c0001t0087g0124 a0001c0001t0090g0115 a0001c0001t0094g0094 a0001c0001t0097g0065 a0001c0001t0099g0043 a0001c0001t0109g0161 a0001c0001t0110g0150 a0001c0002t0004g0091 a0001c0002t0004g0208 a0001c0002t0008g0153 a0001c0002t0015g0050 a0001c0002t0015g0148 a0001c0002t0016g0006 a0001c0002t0016g0165 a0001c0002t0021g0048 a0001c0002t0024g0127 a0001c0002t0024g0131 a0001c0002t0052g0214 a0001c0002t0055g0207 a0001c0002t0068g0021 a0001c0003t0007g0063 a0001c0003t0022g0024	68	214	0.3178	44	c.299 others(63): Show c.299+27291_299+27292insTTATATAATATATAATATATATTATA CATAATATATATTATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827472	G G	GTCTTTCT others(37): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0201 a0001c0002t0063g0201	1	214	0.0047	44	c.104 others(63): Show c.1040-1271_1040-1228dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44410231	G G	GTATATAT others(37): Show GTATATATATATAGTCTATAGACTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG02280.hp2 others(4): Show HG00280.hp1 HG01081.hp1 HG02280.hp2 NA18945.hp2 NA18974.hp1 NA19063.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0071 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0002g0047 a0001c0001t0002g0078 a0001c0001t0002g0099	7	198	0.0354	44	c.376 others(63): Show c.376+19938_376+19939insGTCTATAGACTATATATATATATATA TATATATATATATATATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588281	G G	GCCAGCCG others(37): Show GCCAGCCGCCCCGTCCGGGAGTGGGGGTCAGCCCCCCTGCCCGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	198	0.0051	44	c.377 others(65): Show c.377-116001_377-116000insCAGCCGCCCCGTCCGGGAGTGGGG GTCAGCCCCCCTGCCCGGCC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar

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