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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CARD8_chr19_48203086_48260912	48207732	C C	CTGTTTTT others(8): Show CTGTTTTTTTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01243.hp1 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0137 a0001c0003t0005g0139 a0001c0003t0003g0137 a0001c0003t0005g0139	2	362	0.0055	15	c.39 others(26): Show c.3977_*3978insAAACAAAAAAAAACA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		353		chr19	TogoVar
CARD8_chr19_48203086_48260912	48207732	C C	CTGTTTTT others(8): Show CTGTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01928.hp1 HG01952.hp2 others(27): Show HG00621.hp1 HG01928.hp1 HG01952.hp2 HG02055.hp1 HG02083.hp1 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02738.hp1 HG02965.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 NA18956.hp1 NA18961.hp2 NA18972.hp1 NA18977.hp2 NA18981.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0013 others(2): Show a0001c0003 a0001c0004 a0001c0013 a0002c0012 a0003c0006	a0001c0003t0003 a0001c0003t0006 a0001c0003t0014 others(12): Show a0001c0003t0003 a0001c0003t0006 a0001c0003t0014 a0001c0003t0015 a0001c0003t0023 a0001c0003t0028 a0001c0003t0031 a0001c0004t0003 a0001c0004t0006 a0001c0004t0015 a0001c0004t0044 a0001c0013t0015 a0002c0012t0003 a0003c0006t0003 a0003c0006t0016	a0001c0003t0003g0010 a0001c0003t0003g0042 a0001c0003t0003g0128 others(26): Show a0001c0003t0003g0010 a0001c0003t0003g0042 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0134 a0001c0003t0006g0012 a0001c0003t0006g0039 a0001c0003t0014g0043 a0001c0003t0015g0087 a0001c0003t0015g0113 a0001c0003t0023g0016 a0001c0003t0028g0093 a0001c0003t0031g0283 a0001c0004t0003g0247 a0001c0004t0006g0199 a0001c0004t0015g0248 a0001c0004t0044g0050 a0001c0013t0015g0136 a0002c0012t0003g0071 a0002c0012t0003g0072 a0003c0006t0003g0045 a0003c0006t0003g0162 a0003c0006t0003g0182 a0003c0006t0003g0183 a0003c0006t0003g0184 a0003c0006t0003g0185 a0003c0006t0003g0243 a0003c0006t0016g0279 a0003c0006t0016g0314	30	362	0.0829	15	c.39 others(26): Show c.3963_*3977dupAAAAAAAAAAAAACA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		353		chr19	TogoVar
CARD8_chr19_48203086_48260912	48207734	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00738.hp2 others(7): Show HG00140.hp1 HG00558.hp2 HG00738.hp2 HG01099.hp2 HG01943.hp1 HG02300.hp2 NA18975.hp2 NA18997.hp2 NA19001.hp2 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0006 a0001c0003 a0001c0004 a0003c0006	a0001c0003t0003 a0001c0003t0005 a0001c0003t0027 others(5): Show a0001c0003t0003 a0001c0003t0005 a0001c0003t0027 a0001c0003t0046 a0001c0004t0003 a0001c0004t0014 a0001c0004t0025 a0003c0006t0006	a0001c0003t0003g0130 a0001c0003t0005g0025 a0001c0003t0005g0091 others(7): Show a0001c0003t0003g0130 a0001c0003t0005g0025 a0001c0003t0005g0091 a0001c0003t0005g0096 a0001c0003t0027g0141 a0001c0003t0046g0094 a0001c0004t0003g0164 a0001c0004t0014g0110 a0001c0004t0025g0159 a0003c0006t0006g0138	10	362	0.0276	15	c.39 others(26): Show c.3975_*3976insACAAAAAAAAAAAAA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		351		chr19	TogoVar
CARD8_chr19_48203086_48260912	48220952	G G	GAAAGGAA others(8): Show GAAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(26): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG01070.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02486.hp2 HG03453.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18943.hp1 NA18956.hp2 NA18963.hp1 NA18964.hp1 NA18986.hp2 NA18998.hp1 NA19006.hp1 NA19081.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0002 a0001c0010 a0002c0001 others(2): Show a0001c0002 a0001c0010 a0002c0001 a0005c0016 a0008c0017	a0001c0002t0001 a0001c0002t0013 a0001c0010t0001 others(12): Show a0001c0002t0001 a0001c0002t0013 a0001c0010t0001 a0002c0001t0001 a0002c0001t0004 a0002c0001t0010 a0002c0001t0013 a0002c0001t0018 a0002c0001t0020 a0002c0001t0021 a0002c0001t0035 a0002c0001t0057 a0002c0001t0058 a0005c0016t0001 a0008c0017t0001	a0001c0002t0001g0207 a0001c0002t0013g0220 a0001c0002t0013g0221 others(25): Show a0001c0002t0001g0207 a0001c0002t0013g0220 a0001c0002t0013g0221 a0001c0010t0001g0057 a0001c0010t0001g0144 a0002c0001t0001g0065 a0002c0001t0001g0100 a0002c0001t0001g0106 a0002c0001t0001g0111 a0002c0001t0001g0114 a0002c0001t0001g0125 a0002c0001t0001g0143 a0002c0001t0001g0168 a0002c0001t0001g0224 a0002c0001t0004g0292 a0002c0001t0004g0297 a0002c0001t0004g0304 a0002c0001t0010g0266 a0002c0001t0010g0296 a0002c0001t0013g0121 a0002c0001t0018g0309 a0002c0001t0020g0021 a0002c0001t0021g0083 a0002c0001t0035g0070 a0002c0001t0057g0287 a0002c0001t0058g0291 a0005c0016t0001g0227 a0008c0017t0001g0079	29	362	0.0801	15	c.116 others(32): Show c.1161+777_1161+778insTTCCTTCCTTCCTTT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48220954	A A	AAGGAAGG others(8): Show AAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00673.hp2 others(35): Show HG00099.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG01081.hp2 HG01175.hp2 HG01261.hp2 HG01515.hp2 HG01517.hp1 HG02027.hp1 HG02040.hp1 HG02155.hp2 HG02258.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02896.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp1 NA18522.hp1 NA18945.hp2 NA18954.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18991.hp2 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19067.hp2 NA19068.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0002 a0001c0004 a0002c0001 others(2): Show a0001c0002 a0001c0004 a0002c0001 a0006c0014 a0009c0026	a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 others(12): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0033 a0001c0002t0042 a0001c0002t0054 a0001c0002t0062 a0001c0004t0003 a0001c0004t0006 a0001c0004t0045 a0002c0001t0001 a0002c0001t0004 a0006c0014t0040 a0009c0026t0002	a0001c0002t0002g0030 a0001c0002t0002g0104 a0001c0002t0002g0178 others(33): Show a0001c0002t0002g0030 a0001c0002t0002g0104 a0001c0002t0002g0178 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0223 a0001c0002t0002g0233 a0001c0002t0002g0250 a0001c0002t0007g0119 a0001c0002t0007g0193 a0001c0002t0007g0198 a0001c0002t0007g0210 a0001c0002t0011g0280 a0001c0002t0011g0285 a0001c0002t0011g0319 a0001c0002t0012g0011 a0001c0002t0012g0147 a0001c0002t0012g0148 a0001c0002t0033g0149 a0001c0002t0042g0150 a0001c0002t0054g0281 a0001c0002t0062g0322 a0001c0004t0003g0109 a0001c0004t0003g0218 a0001c0004t0003g0244 a0001c0004t0006g0199 a0001c0004t0045g0251 a0002c0001t0001g0242 a0002c0001t0004g0015 a0002c0001t0004g0271 a0006c0014t0040g0155 a0009c0026t0002g0214	38	362	0.1050	15	c.116 others(32): Show c.1161+775_1161+776insCCTTCCTTCCTTCCT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 NA18940.hp2 others(3): Show HG00323.hp1 HG00639.hp2 NA18940.hp2 NA19087.hp2 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0025 a0001c0002t0002g0103 others(3): Show a0001c0002t0002g0001 a0001c0002t0002g0025 a0001c0002t0002g0103 a0001c0002t0002g0134 a0001c0002t0002g0159 a0001c0002t0002g0233	6	470	0.0128	15	c.31 others(26): Show c.3172_*3186dupAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(8): Show GTTTTTTGTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG04184.hp2 HG00408.hp2 HG00558.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0291 a0001c0002t0002g0130 a0001c0002t0002g0181 a0001c0001t0002g0291 a0001c0002t0002g0130 a0001c0002t0002g0181	3	470	0.0064	15	c.281 others(32): Show c.281+1086_281+1087insACAAAAAACAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(8): Show GTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	470	0.0021	15	c.281 others(32): Show c.281+1086_281+1087insAAAAAAAACAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	470	0.0021	15	c.281 others(32): Show c.281+1072_281+1086dupAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04199.hp2 NA18946.hp2 others(9): Show HG01496.hp2 HG04199.hp2 NA18946.hp2 NA18964.hp2 NA18969.hp2 NA18978.hp1 NA18986.hp1 NA18991.hp2 NA18994.hp1 NA19064.hp2 NA19067.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0069 a0001c0001t0001g0111 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0069 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0376 a0001c0001t0001g0401 a0001c0001t0001g0433 a0001c0001t0003g0065	12	470	0.0255	15	c.-7- others(30): Show c.-7-2669_-7-2655dupAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARM1_chr19_10866553_10928075	10871601	G G	GGCGGCGG others(8): Show GGCGGCGGCGGCGGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01109.hp2 others(3): Show HG00323.hp2 HG00733.hp2 HG01109.hp2 HG02886.hp2 HG03927.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0099 a0001c0001t0014g0116 a0001c0001t0014g0119 others(3): Show a0001c0001t0014g0099 a0001c0001t0014g0116 a0001c0001t0014g0119 a0001c0001t0014g0120 a0001c0001t0014g0171 a0001c0001t0014g0255	6	354	0.0170	15	c.-88 others(22): Show c.-88_-87insTGCGGCGGCGGCGGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	87	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10871604	G G	GGCGGCGG others(8): Show GGCGGCGGCGGCGGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01516.hp1 HG01934.hp1 others(5): Show HG01255.hp2 HG01516.hp1 HG01934.hp1 HG01981.hp1 HG02698.hp1 HG02922.hp2 HG03831.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0011 a0001c0001t0011g0027 a0001c0001t0011g0101 others(5): Show a0001c0001t0011g0011 a0001c0001t0011g0027 a0001c0001t0011g0101 a0001c0001t0011g0102 a0001c0001t0011g0122 a0001c0001t0011g0124 a0001c0001t0011g0129 a0001c0001t0011g0172	8	354	0.0226	15	c.-85 others(22): Show c.-85_-84insTGCGGCGGCGGCGGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	84	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10887417	A A	AGCCTGCA others(8): Show AGCCTGCAGGTCCTGG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	1	354	0.0028	15	c.220 others(34): Show c.220+15497_220+15511dupCCTGCAGGTCCTGGG	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10906861	C C	CTTTATTT others(8): Show CTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19064.hp2 NA20129.hp1 NA18961.hp1 NA19064.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0046 a0001c0001t0002 a0001c0001t0013 a0001c0001t0046	a0001c0001t0002g0161 a0001c0001t0013g0209 a0001c0001t0046g0082 a0001c0001t0002g0161 a0001c0001t0013g0209 a0001c0001t0046g0082	3	354	0.0085	15	c.347 others(32): Show c.347-1129_347-1115dupATTTTATTTTATTTT	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25293305	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0117 a0001c0006t0002g0117	1	186	0.0054	15	c.138 others(32): Show c.138+8396_138+8397insGTGTGTGTGTGTGTG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450912	T T	TTCTCTTC others(8): Show TTCTCTTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02258.hp1 HG02630.hp1 others(8): Show HG01175.hp1 HG02258.hp1 HG02630.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 NA18979.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0005 a0011c0036	a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0004t0004 a0001c0012t0006 a0002c0005t0006 a0011c0036t0001	a0001c0001t0012g0179 a0001c0002t0001g0009 a0001c0002t0001g0111 others(8): Show a0001c0001t0012g0179 a0001c0002t0001g0009 a0001c0002t0001g0111 a0001c0002t0003g0060 a0001c0002t0016g0135 a0001c0004t0004g0121 a0001c0012t0006g0118 a0001c0012t0006g0119 a0001c0012t0006g0120 a0002c0005t0006g0116 a0011c0036t0001g0001	11	186	0.0591	15	c.614 others(30): Show c.614+205_614+206insTTCTCCTCTCCTCTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450984	C C	CTCTCCCC others(8): Show CTCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01934.hp2 HG02258.hp1 others(7): Show HG01175.hp1 HG01934.hp2 HG02258.hp1 HG02630.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0012	a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0003t0009 a0001c0004t0002 a0001c0004t0004 a0001c0012t0006	a0001c0002t0001g0009 a0001c0002t0001g0111 a0001c0002t0003g0060 others(7): Show a0001c0002t0001g0009 a0001c0002t0001g0111 a0001c0002t0003g0060 a0001c0002t0016g0135 a0001c0003t0009g0134 a0001c0004t0002g0088 a0001c0004t0004g0121 a0001c0012t0006g0118 a0001c0012t0006g0119 a0001c0012t0006g0120	10	186	0.0538	15	c.614 others(30): Show c.614+273_614+274insTCTCCCCTCTCCCCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459267	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp2 HG03490.hp1 others(1): Show HG00597.hp1 HG01192.hp2 HG03490.hp1 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 a0001c0003 a0001c0004 a0001c0006	a0001c0003t0002 a0001c0004t0004 a0001c0006t0002 others(1): Show a0001c0003t0002 a0001c0004t0004 a0001c0006t0002 a0001c0006t0003	a0001c0003t0002g0057 a0001c0004t0004g0036 a0001c0006t0002g0106 others(1): Show a0001c0003t0002g0057 a0001c0004t0004g0036 a0001c0006t0002g0106 a0001c0006t0003g0069	4	186	0.0215	15	c.615 others(32): Show c.615-6604_615-6603insCTTTCTTTCTTTCTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL2_chr16_67640144_67662569	67641076	C C	CACCTAAG others(8): Show CACCTAAGCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	15	c.-41 others(26): Show c.-4171_-4170insACCTAAGCATATATA	CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding		4067		chr16	TogoVar
CARNMT1_chr9_74975790_75033293	75005286	A A	AACAAACA others(8): Show AACAAACAGACTCTAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02486.hp2 HG02622.hp2 others(10): Show HG00738.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG03017.hp1 HG03098.hp1 HG03831.hp1 NA18522.hp1 NA18906.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011	a0001c0001t0003g0277 a0001c0001t0003g0290 a0001c0001t0003g0291 others(10): Show a0001c0001t0003g0277 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0278 a0001c0001t0011g0279 a0001c0001t0011g0329 a0001c0001t0011g0330	13	366	0.0355	15	c.591 others(32): Show c.591-5431_591-5417dupATAGAGTCTGTTTGT	CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7			chr9	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(8): Show CTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	372	0.0027	15	c.105 others(34): Show c.1054+1102_1054+1103insAAAAAAAAAAAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110654880	G G	GCCACTGC others(8): Show GCCACTGCACCAGGTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0293 a0001c0003t0002g0293	1	372	0.0027	15	c.988 others(32): Show c.988-3795_988-3781dupTACCTGGTGCAGTGG	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	9/14			chr13	TogoVar
CARTPT_chr5_71714275_71726045	71721864	T T	TAATAGCA others(8): Show TAATAGCAGAATTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	474	0.0021	15	c.12 others(26): Show c.1249_*1250insAATAGCAGAATTGAA	CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding		820		chr5	TogoVar
CASC3_chr17_40135537_40177171	40140351	C C	CACACACA others(8): Show CACACACACACACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	266	0.0038	15	c.-19 others(24): Show c.-198_-197insACACACACACACCAA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		185		chr17	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02129.hp1 HG03098.hp1 others(4): Show HG01261.hp1 HG02129.hp1 HG03098.hp1 HG03688.hp1 HG04204.hp1 NA18952.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0119 others(4): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0002t0001g0145	7	164	0.0427	15	c.60- others(32): Show c.60-16600_60-16586dupTTTTTTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP2_chr7_143283351_143312696	143291780	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG02451.hp2 others(2): Show HG00140.hp2 HG01175.hp2 HG02451.hp2 HG02723.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0008 a0002c0002t0011	a0001c0001t0001g0018 a0001c0001t0002g0018 a0002c0002t0008g0015 others(1): Show a0001c0001t0001g0018 a0001c0001t0002g0018 a0002c0002t0008g0015 a0002c0002t0011g0015	5	246	0.0203	15	c.225 others(29): Show c.225+96_225+110dupTTTTTTTTTTTTTTT	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02630.hp1 HG03225.hp2 others(8): Show HG01993.hp1 HG02630.hp1 HG03225.hp2 HG04204.hp1 NA18949.hp2 NA18964.hp1 NA18971.hp1 NA18973.hp1 NA19043.hp1 NA19068.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0010 a0001c0001t0002g0191 a0001c0001t0002g0214 others(4): Show a0001c0001t0002g0010 a0001c0001t0002g0191 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0003g0059	11	366	0.0301	15	c.483 others(30): Show c.483+208_483+222dupTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTCTTCTT others(8): Show CTCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	406	0.0025	15	c.-1+ others(30): Show c.-1+7820_-1+7821insCTTTCTTTCTTTCTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687836	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01175.hp1 HG01175.hp2 others(3): Show HG00558.hp2 HG01175.hp1 HG01175.hp2 HG02698.hp1 NA18993.hp1 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0003c0003t0002	a0001c0001t0002g0335 a0001c0001t0003g0196 a0001c0001t0003g0197 others(3): Show a0001c0001t0002g0335 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0004g0082 a0002c0002t0001g0272 a0003c0003t0002g0142	6	406	0.0148	15	c.-1+ others(30): Show c.-1+7858_-1+7859insTTTCTTTCTTTCTTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6			chr10	TogoVar
CASP7_chr10_113674912_113735905	113687890	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0131 a0003c0003t0002g0131	1	406	0.0025	15	c.-1+ others(30): Show c.-1+7912_-1+7913insTTTCTTTCTTTCTTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6			chr10	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00733.hp1 others(63): Show HG00544.hp2 HG00609.hp1 HG00733.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02071.hp1 HG02074.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02886.hp2 HG03017.hp1 HG03471.hp1 HG03490.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG04228.hp2 NA18944.hp2 NA18951.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19054.hp1 NA19077.hp1 NA19082.hp2 NA19087.hp2 NA19091.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0002c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0001t0004g0050 a0001c0001t0005g0048 a0002c0005t0002g0049	66	440	0.1500	15	c.-46 others(26): Show c.-4666_-4665insAAAAAAAAAAAAAAA	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		4488		chr1	TogoVar
CASR_chr3_122178668_122296629	122252395	G G	GAAAAAGA others(8): Show GAAAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02615.hp1 HG02738.hp1 others(2): Show HG00423.hp1 HG02615.hp1 HG02738.hp1 HG04228.hp2 NA18975.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0001c0001t0036 a0001c0001t0038 others(2): Show a0001c0001t0001 a0001c0001t0036 a0001c0001t0038 a0002c0002t0002 a0004c0003t0004	a0001c0001t0001g0232 a0001c0001t0036g0096 a0001c0001t0038g0158 others(2): Show a0001c0001t0001g0232 a0001c0001t0036g0096 a0001c0001t0038g0158 a0002c0002t0002g0152 a0004c0003t0004g0227	5	314	0.0159	15	c.-24 others(34): Show c.-242-1551_-242-1550insAAAGAAAGAAAGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 NA18953.hp2 HG01243.hp1 HG02451.hp1 NA18953.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0002 a0002c0003t0001 a0002c0004t0001 a0001c0002t0002 a0002c0003t0001 a0002c0004t0001	a0001c0002t0002g0194 a0002c0003t0001g0217 a0002c0004t0001g0192 a0001c0002t0002g0194 a0002c0003t0001g0217 a0002c0004t0001g0192	3	376	0.0080	15	c.460 others(32): Show c.460-2420_460-2419insAAAAAAAAAAAAAAA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74960712	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19090.hp2 NA19002.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0033 a0001c0001t0005g0035	2	228	0.0088	15	c.-42 others(26): Show c.-4274_-4273insTATATATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		3992		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960712	A A	ATATATAT others(8): Show ATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	228	0.0044	15	c.-42 others(26): Show c.-4274_-4273insTATATATATATATTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		3992		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74964586	A A	ACAGCAGC others(8): Show ACAGCAGCAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG03239.hp1 HG02083.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0049 a0001c0001t0004 a0001c0001t0049	a0001c0001t0004g0223 a0001c0001t0049g0218 a0001c0001t0004g0223 a0001c0001t0049g0218	2	228	0.0088	15	c.-40 others(24): Show c.-400_-399insCAGCAGCAGCAGCAG	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		118		chr7	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01255.hp1 HG03041.hp2 others(2): Show HG00323.hp1 HG01255.hp1 HG03041.hp2 NA18969.hp2 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0003c0007t0002 a0001c0001t0001 a0001c0001t0002 a0003c0007t0002	a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0002g0054 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0002g0054 a0001c0001t0002g0095 a0003c0007t0002g0050	5	358	0.0140	15	c.138 others(32): Show c.138+4764_138+4778dupAAAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96696686	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(51): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01943.hp1 HG02004.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02148.hp1 HG02258.hp2 HG02572.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03710.hp2 NA18612.hp1 NA18942.hp1 NA18946.hp1 NA18949.hp2 NA18956.hp1 NA18959.hp1 NA18963.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19011.hp2 NA19043.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0012 a0002c0003 others(1): Show a0001c0001 a0001c0012 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0012t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0015 a0003c0007t0002	a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0173 others(48): Show a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0002g0147 a0001c0001t0002g0264 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0337 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0008g0323 a0001c0001t0009g0336 a0001c0012t0001g0329 a0002c0003t0001g0334 a0002c0003t0001g0335 a0002c0003t0002g0289 a0002c0003t0002g0291 a0002c0003t0002g0294 a0002c0003t0002g0296 a0002c0003t0003g0016 a0002c0003t0003g0100 a0002c0003t0003g0281 a0002c0003t0003g0305 a0002c0003t0003g0306 a0002c0003t0003g0308 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0003g0314 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0321 a0002c0003t0003g0324 a0002c0003t0003g0325 a0002c0003t0003g0326 a0002c0003t0003g0327 a0002c0003t0003g0330 a0002c0003t0003g0333 a0002c0003t0003g0339 a0002c0003t0003g0340 a0002c0003t0015g0002 a0003c0007t0002g0313	54	358	0.1508	15	c.210 others(30): Show c.210+792_210+793insAAAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96707862	C C	CTAGGATA others(8): Show CTAGGATAGAGTTGTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01981.hp1 HG02015.hp2 others(4): Show HG00738.hp1 HG01981.hp1 HG02015.hp2 HG02155.hp1 HG02738.hp1 HG03831.hp1 NA21309.hp1	a0006 a0007 a0010 a0006 a0007 a0010	a0006c0009 a0007c0015 a0010c0016 a0006c0009 a0007c0015 a0010c0016	a0006c0009t0008 a0007c0015t0012 a0010c0016t0011 a0006c0009t0008 a0007c0015t0012 a0010c0016t0011	a0006c0009t0008g0139 a0006c0009t0008g0140 a0006c0009t0008g0141 others(4): Show a0006c0009t0008g0139 a0006c0009t0008g0140 a0006c0009t0008g0141 a0006c0009t0008g0142 a0007c0015t0012g0137 a0007c0015t0012g0138 a0010c0016t0011g0026	7	358	0.0196	15	c.210 others(34): Show c.210+11955_210+11956insTAGGATAGAGTTGTT	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	3/31			chr5	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(8): Show CTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0198 a0002c0002t0009g0198	1	392	0.0026	15	c.842 others(30): Show c.842+617_842+618insAAAAAAAAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPER4_chr1_26185602_26207964	26199598	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0068 a0002c0014t0001g0068	1	398	0.0025	15	c.813 others(30): Show c.813-273_813-272insAAAAAAAAAAAAAAA	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91587477	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG03654.hp1 others(1): Show HG00741.hp2 HG01069.hp2 HG03654.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0108 others(1): Show a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0108 a0001c0001t0002g0233	4	271	0.0148	15	c.305 others(32): Show c.3058-216_3058-202dupAAAAAAAAAAAAAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	25/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91609518	A A	ATTTAATA others(8): Show ATTTAATACTGTATCT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	271	0.0037	15	c.259 others(32): Show c.2598+947_2598+961dupAGATACAGTATTAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	21/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5715643	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	336	0.0030	15	c.-50 others(26): Show c.-5095_-5094insAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4993		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741785	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01258.hp2 HG01496.hp2 others(8): Show HG01069.hp2 HG01258.hp2 HG01496.hp2 HG02257.hp2 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG03239.hp2 NA18974.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0021	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0021c0023	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0003c0004t0003 a0004c0003t0001 a0004c0003t0003 a0021c0023t0001	a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0060 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0002g0147 a0002c0002t0003g0070 a0003c0004t0003g0083 a0004c0003t0001g0087 a0004c0003t0003g0053 a0021c0023t0001g0052	11	336	0.0327	15	c.573 others(32): Show c.573+2359_573+2360insGGGGGGGGGGGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741785	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0033 a0033	a0033c0047 a0033c0047	a0033c0047t0001 a0033c0047t0001	a0033c0047t0001g0004 a0033c0047t0001g0004	1	336	0.0030	15	c.573 others(32): Show c.573+2359_573+2360insGTGGGGGGGGGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741802	T T	TGGGGGGT others(8): Show TGGGGGGTGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0018 a0018c0020t0001g0018	1	336	0.0030	15	c.573 others(32): Show c.573+2364_573+2365insGGGGGTGGGGGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0239 a0003c0005t0001g0239	1	336	0.0030	15	c.142 others(34): Show c.1428-1156_1428-1155insATATATATATATTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	336	0.0030	15	c.142 others(34): Show c.1428-1156_1428-1155insATATATATATTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18967.hp1 HG02976.hp1 NA18967.hp1	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0001 a0003c0005t0001 a0003c0004t0001 a0003c0005t0001	a0003c0004t0001g0058 a0003c0005t0001g0300 a0003c0004t0001g0058 a0003c0005t0001g0300	2	336	0.0060	15	c.142 others(34): Show c.1428-1156_1428-1155insATATATATTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar

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