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
CACNA1B_chr9_137872782_138129619	137972169	G G	GGGGCCAG others(42): Show GGGGCCAGGATGGGCTCCTCCAGGGCTGGTCCTTCACAGCCTCAGGACCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp1 NA20752.hp2 HG02486.hp2 HG02976.hp1 NA20752.hp2	a0004 a0005 a0004 a0005	a0004c0023 a0005c0024 a0004c0023 a0005c0024	a0004c0023t0008 a0005c0024t0011 a0004c0023t0008 a0005c0024t0011	a0004c0023t0008g0077 a0005c0024t0011g0160 a0005c0024t0011g0162 a0004c0023t0008g0077 a0005c0024t0011g0160 a0005c0024t0011g0162	3	248	0.0121	49	c.154 others(66): Show c.1543+591_1543+592insTCCTCCAGGGCTGGTCCTTCACAGCCTC AGGACCAGGGCCAGGATGGGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1185649	T T	TCAGCGTG others(42): Show TCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03688.hp1 HG03209.hp1 HG03688.hp1	a0008 a0009 a0008 a0009	a0008c0056 a0009c0076 a0008c0056 a0009c0076	a0008c0056t0038 a0009c0076t0006 a0008c0056t0038 a0009c0076t0006	a0008c0056t0038g0224 a0009c0076t0006g0142 a0008c0056t0038g0224 a0009c0076t0006g0142	2	338	0.0059	49	c.300 others(66): Show c.300-9322_300-9321insAGCGTGCATAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGCGAGTAGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185649	T T	TCAGCGTG others(42): Show TCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0144 a0002c0008t0001g0144	1	338	0.0030	49	c.300 others(66): Show c.300-9322_300-9321insAGCGTGCATAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(42): Show ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 NA18954.hp2 HG02559.hp2 HG02717.hp2 NA18954.hp2	a0002 a0004 a0065 a0002 a0004 a0065	a0002c0039 a0004c0006 a0065c0042 a0002c0039 a0004c0006 a0065c0042	a0002c0039t0003 a0004c0006t0001 a0065c0042t0003 a0002c0039t0003 a0004c0006t0001 a0065c0042t0003	a0002c0039t0003g0229 a0004c0006t0001g0301 a0065c0042t0003g0230 a0002c0039t0003g0229 a0004c0006t0001g0301 a0065c0042t0003g0230	3	338	0.0089	49	c.300 others(66): Show c.300-9309_300-9308insCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(42): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0223 a0002c0025t0001g0223	1	338	0.0030	49	c.300 others(66): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(42): Show ATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02976.hp2 HG03209.hp2	a0002 a0015 a0016 a0002 a0015 a0016	a0002c0010 a0015c0017 a0016c0026 a0002c0010 a0015c0017 a0016c0026	a0002c0010t0001 a0015c0017t0003 a0016c0026t0003 a0002c0010t0001 a0015c0017t0003 a0016c0026t0003	a0002c0010t0001g0019 a0015c0017t0003g0107 a0015c0017t0003g0108 others(2): Show a0002c0010t0001g0019 a0015c0017t0003g0107 a0015c0017t0003g0108 a0015c0017t0003g0119 a0016c0026t0003g0109	5	338	0.0148	49	c.300 others(66): Show c.300-9309_300-9308insCCGGGGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTGCGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185703	T T	TCGGCATG others(42): Show TCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0108 a0002c0108	a0002c0108t0027 a0002c0108t0027	a0002c0108t0027g0104 a0002c0108t0027g0104	1	338	0.0030	49	c.300 others(66): Show c.300-9265_300-9264insATGCATAGGGCCGGGGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185711	C C	CATAGGGC others(42): Show CATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0017 a0017	a0017c0066 a0017c0066	a0017c0066t0025 a0017c0066t0025	a0017c0066t0025g0232 a0017c0066t0025g0232	1	338	0.0030	49	c.300 others(66): Show c.300-9261_300-9260insATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185711	C C	CATAGGGC others(42): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01884.hp2 HG02080.hp2 others(9): Show HG01069.hp2 HG01884.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 NA18954.hp2 NA18966.hp1 NA18967.hp2 NA18979.hp2 NA19002.hp1 NA19081.hp2 NA19090.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0024 a0040	a0001c0001 a0002c0007 a0002c0025 others(3): Show a0001c0001 a0002c0007 a0002c0025 a0004c0006 a0024c0037 a0040c0100	a0001c0001t0001 a0002c0007t0003 a0002c0025t0001 others(4): Show a0001c0001t0001 a0002c0007t0003 a0002c0025t0001 a0004c0006t0001 a0004c0006t0002 a0024c0037t0004 a0040c0100t0007	a0001c0001t0001g0231 a0001c0001t0001g0292 a0001c0001t0001g0307 others(9): Show a0001c0001t0001g0231 a0001c0001t0001g0292 a0001c0001t0001g0307 a0002c0007t0003g0070 a0002c0007t0003g0071 a0002c0025t0001g0223 a0004c0006t0001g0294 a0004c0006t0001g0301 a0004c0006t0001g0305 a0004c0006t0002g0234 a0024c0037t0004g0280 a0040c0100t0007g0111	12	338	0.0355	49	c.300 others(66): Show c.300-9261_300-9260insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185738	G G	GGGGCAGG others(42): Show GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0144 a0002c0008t0001g0144	1	338	0.0030	49	c.300 others(66): Show c.300-9234_300-9233insGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTAT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185766	C C	CATAGGGC others(42): Show CATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp2 HG02027.hp2 others(12): Show HG01069.hp2 HG01074.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 NA18945.hp2 NA18966.hp1 NA18967.hp2 NA18979.hp2 NA19002.hp1 NA19005.hp1 NA19080.hp1 NA19081.hp2 NA19090.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0024 a0040 a0047	a0001c0001 a0002c0007 a0004c0006 others(3): Show a0001c0001 a0002c0007 a0004c0006 a0024c0037 a0040c0100 a0047c0082	a0001c0001t0001 a0002c0007t0003 a0004c0006t0001 others(4): Show a0001c0001t0001 a0002c0007t0003 a0004c0006t0001 a0004c0006t0002 a0024c0037t0004 a0040c0100t0007 a0047c0082t0003	a0001c0001t0001g0231 a0001c0001t0001g0292 a0001c0001t0001g0302 others(12): Show a0001c0001t0001g0231 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0001g0307 a0002c0007t0003g0070 a0002c0007t0003g0071 a0002c0007t0003g0304 a0004c0006t0001g0291 a0004c0006t0001g0294 a0004c0006t0001g0303 a0004c0006t0001g0305 a0004c0006t0002g0234 a0024c0037t0004g0280 a0040c0100t0007g0111 a0047c0082t0003g0072	15	338	0.0444	49	c.300 others(66): Show c.300-9206_300-9205insATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185766	C C	CATAGGGC others(42): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0059 a0008c0059	a0008c0059t0003 a0008c0059t0003	a0008c0059t0003g0020 a0008c0059t0003g0020	1	338	0.0030	49	c.300 others(66): Show c.300-9206_300-9205insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185820	C C	CATAGGGC others(42): Show CATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03453.hp1 HG02074.hp2 HG03453.hp1	a0002 a0067 a0002 a0067	a0002c0002 a0067c0130 a0002c0002 a0067c0130	a0002c0002t0026 a0067c0130t0004 a0002c0002t0026 a0067c0130t0004	a0002c0002t0026g0241 a0067c0130t0004g0309 a0002c0002t0026g0241 a0067c0130t0004g0309	2	338	0.0059	49	c.300 others(66): Show c.300-9152_300-9151insATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185820	C C	CATAGGGC others(42): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp2 HG01099.hp1 others(21): Show HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01496.hp1 HG01978.hp2 HG02027.hp2 HG02083.hp1 HG02135.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG06807.hp2 NA18945.hp2 NA18951.hp1 NA18966.hp1 NA18967.hp2 NA18979.hp2 NA19002.hp1 NA19005.hp1 NA19080.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0008 a0024 a0038 a0040 a0046 a0047	a0001c0001 a0002c0002 a0002c0007 others(10): Show a0001c0001 a0002c0002 a0002c0007 a0002c0011 a0002c0025 a0003c0133 a0004c0006 a0008c0059 a0024c0037 a0038c0101 a0040c0100 a0046c0096 a0047c0082	a0001c0001t0001 a0002c0002t0001 a0002c0007t0003 others(10): Show a0001c0001t0001 a0002c0002t0001 a0002c0007t0003 a0002c0011t0005 a0002c0025t0001 a0003c0133t0004 a0004c0006t0001 a0008c0059t0003 a0024c0037t0004 a0038c0101t0008 a0040c0100t0007 a0046c0096t0001 a0047c0082t0003	a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0231 others(21): Show a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0231 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0001g0307 a0002c0002t0001g0244 a0002c0007t0003g0070 a0002c0007t0003g0071 a0002c0007t0003g0304 a0002c0011t0005g0273 a0002c0025t0001g0226 a0003c0133t0004g0046 a0004c0006t0001g0291 a0004c0006t0001g0294 a0004c0006t0001g0303 a0004c0006t0001g0305 a0008c0059t0003g0020 a0024c0037t0004g0280 a0038c0101t0008g0261 a0040c0100t0007g0111 a0046c0096t0001g0105 a0047c0082t0003g0072	24	338	0.0710	49	c.300 others(66): Show c.300-9152_300-9151insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185836	G G	GGGGTGTG others(42): Show GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0026 a0026	a0026c0128 a0026c0128	a0026c0128t0040 a0026c0128t0040	a0026c0128t0040g0014 a0026c0128t0040g0014	1	338	0.0030	49	c.300 others(66): Show c.300-9133_300-9132insTGTGTACGGGGCGGGTGAGTAGACGGCG TGCGTAGGGGCCGGAGGCGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191190	C C	CTCTGACC others(42): Show CTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0060 a0060	a0060c0061 a0060c0061	a0060c0061t0002 a0060c0061t0002	a0060c0061t0002g0330 a0060c0061t0002g0330	1	338	0.0030	49	c.300 others(66): Show c.300-3779_300-3778insGACCCAGCAGGCTGGCCTGGCTGTGTGG CCTCAGGCACACTCGGGGTCT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199325	T T	TCATGGCT others(42): Show TCATGGCTCCGCCCACCGTGCGGTAGCTGCACATATGCCCCACCCCCCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp2 HG02922.hp1 others(3): Show HG02258.hp1 HG02809.hp2 HG02922.hp1 HG03098.hp1 HG03579.hp1 NA19030.hp1	a0002 a0003 a0028 others(1): Show a0002 a0003 a0028 a0058	a0002c0011 a0003c0068 a0028c0049 others(1): Show a0002c0011 a0003c0068 a0028c0049 a0058c0069	a0002c0011t0001 a0002c0011t0002 a0003c0068t0004 others(2): Show a0002c0011t0001 a0002c0011t0002 a0003c0068t0004 a0028c0049t0004 a0058c0069t0033	a0002c0011t0001g0289 a0002c0011t0002g0201 a0002c0011t0002g0203 others(3): Show a0002c0011t0001g0289 a0002c0011t0002g0201 a0002c0011t0002g0203 a0003c0068t0004g0290 a0028c0049t0004g0321 a0058c0069t0033g0049	6	338	0.0178	49	c.803 others(64): Show c.803+574_803+575insAGCTGCACATATGCCCCACCCCCCACCATG GCTCCGCCCACCGTGCGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199391	T T	TGCGGTCG others(42): Show TGCGGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02738.hp1 HG01175.hp2 HG02738.hp1	a0074 a0075 a0074 a0075	a0074c0120 a0075c0119 a0074c0120 a0075c0119	a0074c0120t0037 a0075c0119t0001 a0074c0120t0037 a0075c0119t0001	a0074c0120t0037g0067 a0075c0119t0001g0313 a0074c0120t0037g0067 a0075c0119t0001g0313	2	338	0.0059	49	c.803 others(64): Show c.803+645_803+646insCACCATGGCTCCGCCCACCGCGCGGTCGCT GCACATATGCCCCACCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39653035	T T	TCCCCCCA others(42): Show TCCCCCCACACGGTGGCTAAGAGGGCTGACTGCATTGTGGGTGCACGGAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0157 a0001c0018t0002g0158 a0001c0018t0002g0157 a0001c0018t0002g0158	2	236	0.0085	49	c.199 others(68): Show c.1992+3170_1992+3218dupGGTGGCTAAGAGGGCTGACTGCATTG TGGGTGCACGGAGCCCCCCACAC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	10/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39653046	G G	GGTGGCTA others(42): Show GGTGGCTAAGAGGGCTGACTGCATTGTGGGTGCACGGATTCCCCCACACA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0016 a0004c0006t0016	a0004c0006t0016g0191 a0004c0006t0016g0191	1	236	0.0042	49	c.199 others(68): Show c.1992+3158_1992+3159insTTCCCCCACACAGTGGCTAAGAGGGC TGACTGCATTGTGGGTGCACGGA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	10/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39653144	A A	AGTGGCTA others(42): Show AGTGGCTAAGAGGGCTGACTGCATTGTGGGTGCACGGAGCCCCCCACACG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0049 a0004c0049	a0004c0049t0040 a0004c0049t0040	a0004c0049t0040g0182 a0004c0049t0040g0182	1	236	0.0042	49	c.199 others(68): Show c.1992+3244_1992+3245insTGGGTGCACGGAGCCCCCCACACGGT GGCTAAGAGGGCTGACTGCATTG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	10/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D4_chr12_1786963_1923652	1818170	G G	GCAGCCGC others(42): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG02055.hp2 HG02895.hp2 HG02897.hp2 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0001c0017 a0006c0038 a0001c0005 a0001c0017 a0006c0038	a0001c0005t0001 a0001c0017t0001 a0006c0038t0001 a0001c0005t0001 a0001c0017t0001 a0006c0038t0001	a0001c0005t0001g0255 a0001c0017t0001g0283 a0001c0017t0001g0284 others(1): Show a0001c0005t0001g0255 a0001c0017t0001g0283 a0001c0017t0001g0284 a0006c0038t0001g0116	4	318	0.0126	49	c.255 others(68): Show c.2552-6448_2552-6447insGCCCGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTG	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	26/37			chr12	TogoVar
CACNB4_chr2_151827771_152104044	151875939	A A	ACCTCCCG others(42): Show ACCTCCCGGAAGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	230	0.0044	49	c.521 others(64): Show c.521+486_521+487insGAGGTGGGGGGGTCAGCCCCCCGCCCAGCC AGCCGCCCCTTCCGGGAGG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151875950	G G	GGGGCGGC others(42): Show GGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0001c0001t0042 a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 a0001c0002t0034 a0001c0002t0040 a0001c0002t0041 a0002c0004t0035	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 others(174): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0214 a0001c0001t0004g0001 a0001c0001t0004g0031 a0001c0001t0004g0049 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0086 a0001c0001t0004g0095 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0004g0134 a0001c0001t0004g0153 a0001c0001t0004g0164 a0001c0001t0004g0177 a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0004g0211 a0001c0001t0004g0223 a0001c0001t0005g0024 a0001c0001t0005g0036 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0092 a0001c0001t0005g0141 a0001c0001t0005g0144 a0001c0001t0005g0198 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0229 a0001c0001t0006g0021 a0001c0001t0006g0072 a0001c0001t0006g0077 a0001c0001t0006g0080 a0001c0001t0006g0085 a0001c0001t0006g0216 a0001c0001t0007g0006 a0001c0001t0007g0011 a0001c0001t0007g0015 a0001c0001t0007g0111 a0001c0001t0007g0197 a0001c0001t0007g0206 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0017 a0001c0001t0009g0023 a0001c0001t0009g0056 a0001c0001t0009g0063 a0001c0001t0011g0030 a0001c0001t0011g0071 a0001c0001t0011g0138 a0001c0001t0011g0145 a0001c0001t0011g0146 a0001c0001t0011g0157 a0001c0001t0012g0062 a0001c0001t0012g0167 a0001c0001t0012g0169 a0001c0001t0012g0193 a0001c0001t0012g0195 a0001c0001t0012g0212 a0001c0001t0013g0091 a0001c0001t0013g0106 a0001c0001t0013g0148 a0001c0001t0013g0191 a0001c0001t0013g0228 a0001c0001t0014g0028 a0001c0001t0014g0034 a0001c0001t0014g0094 a0001c0001t0017g0097 a0001c0001t0018g0046 a0001c0001t0018g0220 a0001c0001t0020g0043 a0001c0001t0020g0048 a0001c0001t0024g0227 a0001c0001t0025g0204 a0001c0001t0029g0208 a0001c0001t0030g0074 a0001c0001t0031g0083 a0001c0001t0032g0102 a0001c0001t0033g0135 a0001c0001t0036g0213 a0001c0001t0037g0073 a0001c0001t0042g0168 a0001c0002t0002g0002 a0001c0002t0002g0040 a0001c0002t0002g0044 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0076 a0001c0002t0002g0147 a0001c0002t0002g0162 a0001c0002t0002g0174 a0001c0002t0002g0180 a0001c0002t0002g0184 a0001c0002t0002g0187 a0001c0002t0002g0200 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0224 a0001c0002t0003g0022 a0001c0002t0003g0096 a0001c0002t0003g0112 a0001c0002t0003g0119 a0001c0002t0003g0124 a0001c0002t0003g0127 a0001c0002t0003g0137 a0001c0002t0003g0152 a0001c0002t0003g0155 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0170 a0001c0002t0003g0175 a0001c0002t0003g0178 a0001c0002t0003g0183 a0001c0002t0003g0186 a0001c0002t0023g0176 a0001c0002t0034g0045 a0001c0002t0040g0166 a0001c0002t0041g0172 a0002c0004t0035g0084	177	230	0.7696	49	c.521 others(64): Show c.521+475_521+476insTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCAGCCAGCCGCCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151875950	G G	GGGGCGGC others(42): Show GGGGCGGCTGGCTGGGCGGGGGGCTGATCCTCCCACCTCCCTCCCGGACA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0185 a0001c0002t0002g0185	1	230	0.0044	49	c.521 others(64): Show c.521+475_521+476insTGTCCGGGAGGGAGGTGGGAGGATCAGCCC CCCGCCCAGCCAGCCGCCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(42): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0028 a0001c0001t0017g0028	1	142	0.0070	49	c.244 others(66): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44588790	T T	TGCCCGGC others(42): Show TGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	198	0.0051	49	c.377 others(70): Show c.377-115482_377-115481insTGCCCCGTCCGGGAGGGAGGTGGG GAGGTCAGCCCCCCGCCCGGCCAGC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588790	T T	TGCCCGGC others(42): Show TGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02109.hp1 others(7): Show HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02630.hp2 HG02970.hp1 HG03139.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0127 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0003g0169 a0001c0001t0006g0160	10	198	0.0505	49	c.377 others(70): Show c.377-115482_377-115481insTGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588808	G G	GTCCGGGA others(42): Show GTCCGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	198	0.0051	49	c.377 others(70): Show c.377-115460_377-115459insAGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588808	G G	GTCCGGGA others(42): Show GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(68): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01258.hp1 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02071.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18942.hp1 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18983.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19043.hp2 NA19060.hp2 NA19063.hp2 NA19074.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0004t0003	a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0048 others(68): Show a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0173 a0001c0001t0002g0181 a0001c0001t0003g0092 a0001c0001t0007g0070 a0001c0002t0001g0053 a0001c0002t0002g0028 a0001c0002t0006g0107 a0001c0004t0003g0063	71	198	0.3586	49	c.377 others(70): Show c.377-115454_377-115453insTCAGCCCCCCGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135847892	G G	GAGGGGAG others(42): Show GAGGGGAGGGGAGTGGGGGGAGGGGGCAGGGAAGAGGAGGGGAGTGGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp1 others(93): Show HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00673.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG04199.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0001c0008 others(9): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0012 a0001c0015 a0001c0021 a0001c0022 a0001c0023 a0001c0030 a0006c0016 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0030 a0001c0001t0033 a0001c0001t0036 a0001c0002t0031 a0001c0008t0006 a0001c0008t0013 a0001c0008t0026 a0001c0009t0002 a0001c0009t0011 a0001c0012t0002 a0001c0012t0034 a0001c0015t0002 a0001c0021t0016 a0001c0022t0002 a0001c0023t0002 a0001c0030t0006 a0006c0016t0002 a0009c0024t0002	a0001c0001t0001g0147 a0001c0001t0002g0001 a0001c0001t0002g0025 others(92): Show a0001c0001t0001g0147 a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0268 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0012g0002 a0001c0001t0015g0015 a0001c0001t0017g0267 a0001c0001t0022g0208 a0001c0001t0030g0026 a0001c0001t0033g0214 a0001c0001t0036g0339 a0001c0002t0031g0297 a0001c0008t0006g0292 a0001c0008t0006g0293 a0001c0008t0006g0295 a0001c0008t0013g0013 a0001c0008t0026g0296 a0001c0009t0002g0335 a0001c0009t0002g0336 a0001c0009t0011g0337 a0001c0009t0011g0338 a0001c0012t0002g0264 a0001c0012t0002g0265 a0001c0012t0034g0266 a0001c0015t0002g0024 a0001c0021t0016g0030 a0001c0022t0002g0230 a0001c0023t0002g0320 a0001c0030t0006g0294 a0006c0016t0002g0223 a0009c0024t0002g0225	96	340	0.2824	49	c.104 others(68): Show c.1045+2244_1045+2245insTCCCCACTCCCCTCCTCTTCCCTGCC CCCTCCCCCCACTCCCCTCCCCT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMTA1_chr1_6780454_7774706	7114745	C C	CTGAGTCC others(42): Show CTGAGTCCGAAAACCTAAGAACCAGGAGAGCTGATGGTGGTGTTCCAGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp1 HG03704.hp2 HG03041.hp1 HG03486.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015	a0001c0001t0004g0026 a0001c0001t0008g0003 a0001c0001t0015g0037 a0001c0001t0004g0026 a0001c0001t0008g0003 a0001c0001t0015g0037	3	58	0.0517	49	c.302 others(68): Show c.302+23389_302+23390insAAGAACCAGGAGAGCTGATGGTGGTG TTCCAGTGTGAGTCCGAAAACCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7115481	T T	TGAGTCCG others(42): Show TGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03453.hp1 HG02647.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0002 a0001c0017t0026 a0001c0002t0002 a0001c0017t0026	a0001c0002t0002g0016 a0001c0017t0026g0027 a0001c0002t0002g0016 a0001c0017t0026g0027	2	58	0.0345	49	c.302 others(68): Show c.302+24158_302+24159insAGAGTCCGAAAACCTGAGACCCAGGA GAGCTGATGGTGGTGTTCCAGTG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7115550	A A	ACCAGGAG others(42): Show ACCAGGAGAGCTGATGATGTTGTTCCAGTCTGAATCTGAAAGCCTGAGAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG03453.hp1 HG02647.hp1 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0002 a0001c0002t0004 a0001c0017t0026 a0001c0002t0002 a0001c0002t0004 a0001c0017t0026	a0001c0002t0002g0016 a0001c0002t0004g0030 a0001c0017t0026g0027 a0001c0002t0002g0016 a0001c0002t0004g0030 a0001c0017t0026g0027	3	58	0.0517	49	c.302 others(68): Show c.302+24293_302+24341dupATGTTGTTCCAGTCTGAATCTGAAAG CCTGAGACCCAGGAGAGCTGATG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN11_chr6_44153820_44189401	44181574	C C	CCACACTC others(42): Show CCACACTCACACACACACACACTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0014 a0003c0003t0002g0014	2	460	0.0044	49	c.193 others(66): Show c.1938+259_1938+260insTCACACACACACACACTCACATACAGAC ACAACCACACCACACTCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN13_chr2_30717771_30812446	30758809	T T	TCCCTCCC others(42): Show TCCCTCCCTTTCCTTCCTCCCTCCCTTCCCTTCCTCCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG03579.hp2 HG02451.hp1 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0004g0095 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0004g0095	3	384	0.0078	49	c.775 others(64): Show c.775-673_775-672insGGGAGGAAGGAAGGGAGGAAGGGAAGGGAG GGAGGAAGGAAAGGGAGGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CARD14_chr17_80165030_80214331	80193308	G G	GCCCTGGC others(42): Show GCCCTGGCACAGACAGTCCCCAGACATGAGTTTCCAGGGGACCCGATTCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01099.hp2 HG01258.hp1 others(12): Show HG00408.hp1 HG01099.hp2 HG01258.hp1 HG02135.hp1 HG02615.hp1 HG02895.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03516.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA20300.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0007 a0023	a0002c0017 a0002c0046 a0003c0044 others(3): Show a0002c0017 a0002c0046 a0003c0044 a0004c0008 a0007c0011 a0023c0049	a0002c0017t0001 a0002c0046t0001 a0003c0044t0006 others(4): Show a0002c0017t0001 a0002c0046t0001 a0003c0044t0006 a0004c0008t0001 a0004c0008t0002 a0007c0011t0003 a0023c0049t0004	a0002c0017t0001g0128 a0002c0046t0001g0136 a0003c0044t0006g0133 others(11): Show a0002c0017t0001g0128 a0002c0046t0001g0136 a0003c0044t0006g0133 a0004c0008t0001g0153 a0004c0008t0002g0112 a0007c0011t0003g0006 a0007c0011t0003g0284 a0007c0011t0003g0285 a0007c0011t0003g0286 a0007c0011t0003g0287 a0007c0011t0003g0289 a0007c0011t0003g0365 a0007c0011t0003g0366 a0023c0049t0004g0288	15	376	0.0399	49	c.135 others(66): Show c.1356+689_1356+690insCCCTGGCACAGACAGTCCCCAGACATGA GTTTCCAGGGGACCCGATTCA	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	12/23			chr17	TogoVar
CARD14_chr17_80165030_80214331	80193321	C C	CAGTCCCC others(42): Show CAGTCCCCAGACATGAGTTTCCAGGGGACCCGATTCAACCTGGCACAGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01070.hp1 others(50): Show HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01934.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02922.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18957.hp2 NA18983.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0011 a0013 a0026 a0028 a0029	a0001c0001 a0001c0007 a0001c0025 others(14): Show a0001c0001 a0001c0007 a0001c0025 a0001c0051 a0001c0067 a0001c0069 a0003c0006 a0003c0013 a0004c0008 a0004c0052 a0004c0053 a0005c0048 a0011c0020 a0013c0028 a0026c0047 a0028c0059 a0029c0041	a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 others(17): Show a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 a0001c0025t0002 a0001c0025t0004 a0001c0051t0001 a0001c0067t0006 a0001c0069t0002 a0003c0006t0002 a0003c0006t0026 a0003c0013t0002 a0004c0008t0001 a0004c0052t0001 a0004c0053t0001 a0005c0048t0001 a0011c0020t0006 a0013c0028t0005 a0026c0047t0001 a0028c0059t0025 a0029c0041t0001	a0001c0001t0002g0292 a0001c0007t0002g0007 a0001c0007t0002g0020 others(49): Show a0001c0001t0002g0292 a0001c0007t0002g0007 a0001c0007t0002g0020 a0001c0007t0002g0074 a0001c0007t0002g0231 a0001c0007t0002g0293 a0001c0007t0002g0316 a0001c0007t0002g0325 a0001c0007t0002g0329 a0001c0007t0002g0330 a0001c0007t0002g0331 a0001c0007t0002g0337 a0001c0007t0002g0340 a0001c0007t0002g0368 a0001c0007t0004g0338 a0001c0025t0002g0031 a0001c0025t0004g0010 a0001c0025t0004g0011 a0001c0051t0001g0351 a0001c0067t0006g0027 a0001c0069t0002g0326 a0003c0006t0002g0035 a0003c0006t0026g0369 a0003c0013t0002g0303 a0003c0013t0002g0304 a0003c0013t0002g0313 a0003c0013t0002g0314 a0003c0013t0002g0319 a0003c0013t0002g0324 a0004c0008t0001g0198 a0004c0008t0001g0226 a0004c0008t0001g0294 a0004c0008t0001g0297 a0004c0008t0001g0306 a0004c0008t0001g0307 a0004c0008t0001g0308 a0004c0008t0001g0315 a0004c0008t0001g0328 a0004c0008t0001g0333 a0004c0008t0001g0349 a0004c0008t0001g0353 a0004c0052t0001g0352 a0004c0053t0001g0168 a0005c0048t0001g0342 a0011c0020t0006g0146 a0011c0020t0006g0148 a0011c0020t0006g0149 a0013c0028t0005g0058 a0013c0028t0005g0085 a0026c0047t0001g0332 a0028c0059t0025g0137 a0029c0041t0001g0350	53	376	0.1410	49	c.135 others(66): Show c.1356+737_1356+738insAACCTGGCACAGATAGTCCCCAGACATG AGTTTCCAGGGGACCCGATTC	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80193341	C C	CCAGGGGA others(42): Show CCAGGGGACCCGATTCAACCTGGCACAGACAGTCCCCAGACATGAGTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(32): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00673.hp2 HG00741.hp1 HG01261.hp2 HG01358.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp2 HG02056.hp1 HG02165.hp1 HG02809.hp1 HG03453.hp2 HG03491.hp1 HG03688.hp2 HG04204.hp2 NA18747.hp1 NA18942.hp2 NA18952.hp1 NA18957.hp1 NA18960.hp1 NA18968.hp1 NA18970.hp2 NA18991.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0012 a0014 a0022	a0001c0012 a0002c0002 a0004c0003 others(7): Show a0001c0012 a0002c0002 a0004c0003 a0004c0008 a0005c0004 a0005c0014 a0012c0034 a0012c0061 a0014c0033 a0022c0060	a0001c0012t0001 a0002c0002t0001 a0004c0003t0001 others(9): Show a0001c0012t0001 a0002c0002t0001 a0004c0003t0001 a0004c0003t0010 a0004c0008t0001 a0005c0004t0001 a0005c0004t0002 a0005c0014t0002 a0012c0034t0001 a0012c0061t0001 a0014c0033t0001 a0022c0060t0002	a0001c0012t0001g0123 a0001c0012t0001g0256 a0001c0012t0001g0279 others(32): Show a0001c0012t0001g0123 a0001c0012t0001g0256 a0001c0012t0001g0279 a0002c0002t0001g0079 a0002c0002t0001g0258 a0004c0003t0001g0139 a0004c0003t0001g0283 a0004c0003t0010g0269 a0004c0008t0001g0341 a0005c0004t0001g0008 a0005c0004t0001g0012 a0005c0004t0001g0170 a0005c0004t0001g0214 a0005c0004t0001g0255 a0005c0004t0001g0259 a0005c0004t0001g0265 a0005c0004t0001g0266 a0005c0004t0001g0268 a0005c0004t0001g0273 a0005c0004t0001g0276 a0005c0004t0001g0277 a0005c0004t0001g0280 a0005c0004t0001g0312 a0005c0004t0001g0327 a0005c0004t0001g0335 a0005c0004t0001g0343 a0005c0004t0001g0348 a0005c0004t0002g0080 a0005c0014t0002g0345 a0012c0034t0001g0260 a0012c0034t0001g0270 a0012c0061t0001g0147 a0014c0033t0001g0262 a0014c0033t0001g0282 a0022c0060t0002g0278	35	376	0.0931	49	c.135 others(66): Show c.1356+737_1356+738insAACCTGGCACAGACAGTCCCCAGACATG AGTTTGCAGGGGACCCGATTC	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80193351	C C	CGATTCAA others(42): Show CGATTCAACCTGGCACAGACAGTCCCCAGACATGAGTTTGCAGGGGACCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0267 a0005c0004t0001g0267	1	376	0.0027	49	c.135 others(66): Show c.1356+737_1356+738insAACCTGGCACAGACAGTCCCCAGACATG AGTTTGCAGGGGACCTGATTC	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80193378	A A	AGACATGA others(42): Show AGACATGAGTTTCCAGGGGACCCGATTCGACCTGGCACAGACAGTCCCCG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01167.hp1 others(48): Show HG00544.hp2 HG00609.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02602.hp1 HG02622.hp1 HG02738.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18952.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA19000.hp1 NA19007.hp1 NA19010.hp2 NA19065.hp2 NA19067.hp1 NA19077.hp1 NA19086.hp1 NA19087.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0021 a0001c0030 a0002c0005 others(7): Show a0001c0021 a0001c0030 a0002c0005 a0002c0055 a0003c0010 a0003c0029 a0003c0066 a0004c0031 a0006c0015 a0009c0019	a0001c0021t0007 a0001c0030t0004 a0001c0030t0024 others(15): Show a0001c0021t0007 a0001c0030t0004 a0001c0030t0024 a0002c0005t0001 a0002c0005t0007 a0002c0005t0010 a0002c0055t0001 a0003c0010t0001 a0003c0010t0002 a0003c0010t0005 a0003c0010t0013 a0003c0029t0001 a0003c0029t0007 a0003c0066t0001 a0004c0031t0007 a0006c0015t0001 a0006c0015t0006 a0009c0019t0001	a0001c0021t0007g0049 a0001c0021t0007g0050 a0001c0021t0007g0051 others(47): Show a0001c0021t0007g0049 a0001c0021t0007g0050 a0001c0021t0007g0051 a0001c0030t0004g0357 a0001c0030t0024g0054 a0002c0005t0001g0041 a0002c0005t0001g0063 a0002c0005t0001g0066 a0002c0005t0001g0073 a0002c0005t0001g0078 a0002c0005t0001g0083 a0002c0005t0001g0084 a0002c0005t0001g0088 a0002c0005t0001g0111 a0002c0005t0001g0141 a0002c0005t0001g0142 a0002c0005t0001g0195 a0002c0005t0001g0222 a0002c0005t0001g0257 a0002c0005t0001g0318 a0002c0005t0001g0334 a0002c0005t0007g0046 a0002c0005t0010g0064 a0002c0005t0010g0065 a0002c0055t0001g0009 a0003c0010t0001g0067 a0003c0010t0002g0075 a0003c0010t0002g0076 a0003c0010t0002g0166 a0003c0010t0002g0233 a0003c0010t0005g0052 a0003c0010t0005g0053 a0003c0010t0005g0055 a0003c0010t0005g0086 a0003c0010t0013g0301 a0003c0010t0013g0302 a0003c0029t0001g0039 a0003c0029t0007g0087 a0003c0066t0001g0253 a0004c0031t0007g0045 a0004c0031t0007g0048 a0006c0015t0001g0001 a0006c0015t0001g0071 a0006c0015t0001g0077 a0006c0015t0001g0081 a0006c0015t0001g0336 a0006c0015t0006g0072 a0009c0019t0001g0068 a0009c0019t0001g0069 a0009c0019t0001g0070	51	376	0.1356	49	c.135 others(66): Show c.1356+786_1356+787insGACCTGGCACAGACAGTCCCCGGACATG AGTTTCCAGGGGACCCGATTC	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARTPT_chr5_71714275_71726045	71716413	C C	CTGGGGGG others(42): Show CTGGGGGGGGGTTTCTTGTATGGTGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	474	0.0021	49	c.-28 others(60): Show c.-2881_-2880insTGGGGGGGGGTTTCTTGTATGGTGGGGGGGGGGG GGGGGGGGGGGGGGG	CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding		2861		chr5	TogoVar
CASK_chrX_41509934_41928554	41612902	G G	GGCCAGCT others(42): Show GGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0028 a0001c0006t0028	a0001c0006t0028g0018 a0001c0006t0028g0018	1	164	0.0061	49	c.103 others(68): Show c.1034-2878_1034-2877insTGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCAGACGGGGCAGCTGGC	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	11/26			chrX	TogoVar
CASP8_chr2_201255536_201292709	201283059	C C	CCACTCCC others(42): Show CCACTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0257 a0001c0001t0005g0257	1	386	0.0026	49	c.803 others(66): Show c.803-1756_803-1755insACTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTC	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201283070	C C	CGGGGCGG others(42): Show CGGGGCGGCTGGCCGGGCGGAGGGCTGACACCCCCACCTCCCTCCCGGAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp2 HG01433.hp2 HG00741.hp1 HG01168.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0205 a0001c0001t0005g0207 a0001c0001t0005g0209 a0001c0001t0005g0205 a0001c0001t0005g0207 a0001c0001t0005g0209	3	386	0.0078	49	c.803 others(66): Show c.803-1727_803-1726insAGGGCTGACACCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201283070	C C	CGGGGCGG others(42): Show CGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp2 HG01891.hp2 others(6): Show HG01167.hp2 HG01175.hp2 HG01891.hp2 HG02723.hp2 HG02818.hp1 HG03139.hp1 HG03453.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0208 a0001c0001t0005g0210 others(4): Show a0001c0001t0005g0018 a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0265	9	386	0.0233	49	c.803 others(66): Show c.803-1727_803-1726insAGGGCTGACCCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201283070	C C	CGGGGCGG others(42): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02258.hp2 others(33): Show HG01261.hp1 HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03927.hp1 HG03942.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015	a0001c0001t0004g0022 a0001c0001t0004g0049 a0001c0001t0004g0059 others(29): Show a0001c0001t0004g0022 a0001c0001t0004g0049 a0001c0001t0004g0059 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0080 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0058 a0001c0001t0005g0063 a0001c0001t0005g0258 a0001c0001t0005g0260 a0001c0001t0010g0053 a0001c0001t0012g0254 a0001c0001t0015g0259	36	386	0.0933	49	c.803 others(66): Show c.803-1702_803-1701insCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCC	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CBFA2T3_chr16_88869858_88982207	88889972	C C	CGCCCCGC others(42): Show CGCCCCGCGATTCCTCCTCCTCCAGGGGACGTTTCAAATCCCTGGACGAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	284	0.0035	49	c.711 others(66): Show c.711+1909_711+1910insATCGTCCAGGGATTTGAAACGTCCCCTG GAGGAGGAGGAATCGCGGGGC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	AATATATA others(42): Show AATATATATATATATATTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0189 a0005c0005t0001g0189	1	440	0.0023	49	c.676 others(66): Show c.676-1742_676-1741insATATATATATATTATATATATATATATA TATATATATATATATATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0345 a0005c0005t0001g0345	1	440	0.0023	49	c.676 others(66): Show c.676-1746_676-1745insTATATATATATATATATATATATATATA TATATATATATATATATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar

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