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
CARF_chr2_202907275_202993263	202958249	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00741.hp2 others(43): Show HG00323.hp2 HG00733.hp2 HG00741.hp2 HG01168.hp1 HG01175.hp1 HG01256.hp2 HG01361.hp1 HG01884.hp1 HG02040.hp1 HG02258.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18954.hp1 NA18962.hp2 NA18969.hp2 NA18988.hp1 NA18993.hp2 NA19030.hp2 NA19043.hp1 NA19074.hp1 NA19074.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0029 a0001c0001t0104 a0001c0001t0110 a0002c0002t0012 a0002c0002t0015 a0002c0002t0022 a0002c0002t0023 a0002c0002t0046 a0002c0002t0059 a0002c0002t0097 a0002c0002t0098 a0002c0002t0099 a0002c0002t0105 a0004c0004t0019	a0001c0001t0001g0030 a0001c0001t0001g0120 a0001c0001t0001g0187 others(43): Show a0001c0001t0001g0030 a0001c0001t0001g0120 a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0003g0062 a0001c0001t0003g0167 a0001c0001t0003g0176 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0004g0180 a0001c0001t0004g0291 a0001c0001t0006g0168 a0001c0001t0006g0235 a0001c0001t0007g0028 a0001c0001t0007g0202 a0001c0001t0010g0250 a0001c0001t0011g0219 a0001c0001t0017g0261 a0001c0001t0017g0262 a0001c0001t0018g0249 a0001c0001t0024g0038 a0001c0001t0029g0300 a0001c0001t0029g0301 a0001c0001t0104g0173 a0001c0001t0110g0163 a0002c0002t0012g0312 a0002c0002t0012g0314 a0002c0002t0012g0317 a0002c0002t0012g0319 a0002c0002t0015g0311 a0002c0002t0015g0316 a0002c0002t0015g0323 a0002c0002t0022g0304 a0002c0002t0022g0308 a0002c0002t0022g0309 a0002c0002t0023g0302 a0002c0002t0023g0305 a0002c0002t0023g0313 a0002c0002t0046g0303 a0002c0002t0046g0315 a0002c0002t0059g0324 a0002c0002t0097g0320 a0002c0002t0098g0318 a0002c0002t0099g0322 a0002c0002t0105g0321 a0004c0004t0019g0279	46	334	0.1377	10	c.642 others(27): Show c.642+2513_642+2522dupGTGTGTGTGT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202980616	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00733.hp2 others(29): Show HG00544.hp1 HG00609.hp2 HG00733.hp2 HG00741.hp1 HG01257.hp1 HG01346.hp1 HG01496.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp1 HG02717.hp2 HG02886.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03579.hp1 HG03669.hp1 HG03942.hp2 NA18747.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18991.hp2 NA18998.hp2 NA19009.hp2 NA19057.hp1 NA19077.hp2 NA19086.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0028 a0001c0001t0038 a0001c0001t0062 a0001c0001t0066 a0001c0001t0073 a0001c0001t0081 a0001c0001t0087 a0001c0005t0040 a0002c0002t0046 a0002c0002t0097 a0002c0002t0098 a0002c0002t0099	a0001c0001t0001g0197 a0001c0001t0002g0108 a0001c0001t0002g0139 others(29): Show a0001c0001t0001g0197 a0001c0001t0002g0108 a0001c0001t0002g0139 a0001c0001t0003g0150 a0001c0001t0004g0151 a0001c0001t0007g0031 a0001c0001t0007g0158 a0001c0001t0007g0165 a0001c0001t0007g0202 a0001c0001t0007g0208 a0001c0001t0007g0241 a0001c0001t0007g0288 a0001c0001t0008g0076 a0001c0001t0008g0080 a0001c0001t0010g0273 a0001c0001t0013g0265 a0001c0001t0014g0073 a0001c0001t0014g0103 a0001c0001t0017g0262 a0001c0001t0024g0126 a0001c0001t0028g0040 a0001c0001t0038g0075 a0001c0001t0062g0122 a0001c0001t0066g0044 a0001c0001t0073g0083 a0001c0001t0081g0041 a0001c0001t0087g0079 a0001c0005t0040g0147 a0002c0002t0046g0303 a0002c0002t0097g0320 a0002c0002t0098g0318 a0002c0002t0099g0322	32	334	0.0958	10	c.155 others(27): Show c.1559-902_1559-893dupTATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986868	G G	GTATATAT others(3): Show GTATATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp1 NA18982.hp2 NA18978.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0101 a0001c0001t0035g0105 a0001c0001t0035g0101 a0001c0001t0035g0105	2	334	0.0060	10	c.32 others(21): Show c.3252_*3253insCATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3253	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986877	T T	TATATATA others(3): Show TATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02717.hp2 HG02145.hp1 HG02451.hp1 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0040 a0001c0005t0060 a0001c0005t0040 a0001c0005t0060	a0001c0005t0040g0147 a0001c0005t0040g0325 a0001c0005t0060g0145 a0001c0005t0040g0147 a0001c0005t0040g0325 a0001c0005t0060g0145	3	334	0.0090	10	c.32 others(21): Show c.3262_*3263insCATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3263	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01106.hp2 HG02071.hp1 others(2): Show HG00099.hp2 HG01106.hp2 HG02071.hp1 HG02647.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0025 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0025 a0001c0002t0002 a0001c0002t0019 a0001c0004t0002	a0001c0001t0001g0314 a0001c0001t0025g0300 a0001c0002t0002g0147 others(2): Show a0001c0001t0001g0314 a0001c0001t0025g0300 a0001c0002t0002g0147 a0001c0002t0019g0022 a0001c0004t0002g0079	5	470	0.0106	10	c.31 others(21): Show c.3177_*3186dupAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(3): Show GTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01257.hp2 HG01361.hp1 others(5): Show HG00280.hp1 HG01257.hp2 HG01361.hp1 HG03195.hp1 HG03453.hp1 HG03492.hp2 HG03688.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0101 a0001c0002t0002g0102 others(4): Show a0001c0002t0002g0010 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0105 a0001c0002t0002g0183 a0001c0002t0002g0192 a0001c0002t0002g0271	8	470	0.0170	10	c.281 others(27): Show c.281+1086_281+1087insAAACAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA20905.hp2 NA19070.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0327 a0001c0001t0003g0128 a0001c0001t0003g0327	2	470	0.0043	10	c.281 others(27): Show c.281+1077_281+1086dupAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857267	T T	TTTGTTTT others(3): Show TTTGTTTTTTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG03041.hp2 others(1): Show HG02055.hp1 HG02145.hp2 HG03041.hp2 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0338 a0001c0002t0002g0392 a0001c0002t0002g0403 others(1): Show a0001c0002t0002g0338 a0001c0002t0002g0392 a0001c0002t0002g0403 a0001c0002t0002g0438	4	470	0.0085	10	c.281 others(27): Show c.281+1082_281+1083insCAAAAAACAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00673.hp1 others(21): Show HG00099.hp1 HG00609.hp1 HG00673.hp1 HG01256.hp1 HG02056.hp1 HG02083.hp2 HG02809.hp2 HG03017.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18961.hp2 NA18979.hp1 NA18980.hp2 NA19005.hp1 NA19055.hp2 NA19081.hp1 NA19090.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0035 a0001c0001t0043 others(2): Show a0001c0001t0001 a0001c0001t0035 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0081 others(20): Show a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0292 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0368 a0001c0001t0001g0386 a0001c0001t0001g0430 a0001c0001t0035g0131 a0001c0001t0043g0351 a0001c0002t0001g0336 a0001c0002t0002g0232	24	470	0.0511	10	c.-7- others(25): Show c.-7-2664_-7-2655dupAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8863112	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02886.hp1 HG02896.hp1 others(1): Show HG01192.hp1 HG02886.hp1 HG02896.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0414 others(1): Show a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0414 a0001c0001t0006g0191	4	470	0.0085	10	c.-7- others(25): Show c.-7-3787_-7-3778dupAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8863286	C C	CATTTTTT others(3): Show CATTTTTTTGT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0325 a0001c0001t0003g0325	1	470	0.0021	10	c.-7- others(25): Show c.-7-3952_-7-3951insACAAAAAAAT	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARM1_chr19_10866553_10928075	10906861	C C	CTTTATTT others(3): Show CTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG01256.hp1 others(19): Show HG01099.hp1 HG01243.hp2 HG01256.hp1 HG02257.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG03041.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 NA18747.hp2 NA18971.hp2 NA18972.hp1 NA18981.hp2 NA19005.hp2 NA19077.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0050 a0001c0001t0062 a0002c0003t0002	a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0303 others(19): Show a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0320 a0001c0001t0003g0163 a0001c0001t0003g0205 a0001c0001t0003g0220 a0001c0001t0004g0283 a0001c0001t0006g0264 a0001c0001t0006g0272 a0001c0001t0006g0276 a0001c0001t0007g0231 a0001c0001t0007g0281 a0001c0001t0013g0201 a0001c0001t0016g0261 a0001c0001t0021g0105 a0001c0001t0021g0107 a0001c0001t0050g0210 a0001c0001t0062g0106 a0002c0003t0002g0016	22	354	0.0622	10	c.347 others(27): Show c.347-1124_347-1115dupATTTTATTTT	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25281127	T T	TGTGCGCG others(3): Show TGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18946.hp1 HG02257.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0125 a0001c0006t0001g0126 a0001c0001t0001g0125 a0001c0006t0001g0126	2	186	0.0108	10	c.40+ others(25): Show c.40+1293_40+1294insTGCGCGCGCG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25281127	T T	TGTGTGCG others(3): Show TGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0131 a0001c0006t0002g0131	1	186	0.0054	10	c.40+ others(25): Show c.40+1293_40+1294insTGTGCGCGCG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(3): Show GCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00544.hp1 others(29): Show HG00140.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp1 HG01433.hp1 HG02055.hp2 HG02135.hp2 HG02145.hp1 HG02896.hp2 HG03195.hp2 HG03490.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp1 NA18970.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19063.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0018 a0001c0037 a0002c0005 a0002c0007 a0002c0013 a0002c0014 a0003c0023 a0004c0011 a0012c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0008 a0001c0003t0002 a0001c0003t0004 a0001c0004t0002 a0001c0004t0004 a0001c0004t0018 a0001c0006t0002 a0001c0006t0003 a0001c0008t0001 a0001c0018t0001 a0001c0037t0002 a0002c0005t0003 a0002c0007t0006 a0002c0013t0003 a0002c0014t0003 a0003c0023t0002 a0004c0011t0003 a0012c0026t0002	a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0076 others(29): Show a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0003g0071 a0001c0001t0005g0095 a0001c0002t0008g0090 a0001c0003t0002g0082 a0001c0003t0002g0089 a0001c0003t0004g0092 a0001c0004t0002g0079 a0001c0004t0002g0088 a0001c0004t0004g0096 a0001c0004t0018g0093 a0001c0006t0002g0074 a0001c0006t0002g0087 a0001c0006t0003g0069 a0001c0008t0001g0066 a0001c0018t0001g0075 a0001c0018t0001g0094 a0001c0037t0002g0083 a0002c0005t0003g0073 a0002c0007t0006g0091 a0002c0013t0003g0067 a0002c0014t0003g0085 a0002c0014t0003g0086 a0003c0023t0002g0072 a0004c0011t0003g0077 a0012c0026t0002g0070	32	186	0.1720	10	c.40+ others(25): Show c.40+1302_40+1303insGCGCGCACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25293265	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00673.hp1 others(11): Show HG00140.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01361.hp2 HG03490.hp2 HG04184.hp1 NA18956.hp2 NA18979.hp1 NA18993.hp2 NA18998.hp1 NA19063.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0037 a0002c0013 a0002c0014 a0003c0010 a0003c0025 a0009c0027	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0004t0002 a0001c0006t0002 a0001c0006t0004 a0001c0037t0002 a0002c0013t0010 a0002c0014t0003 a0003c0010t0003 a0003c0025t0002 a0009c0027t0002	a0001c0001t0001g0050 a0001c0001t0003g0054 a0001c0001t0003g0064 others(11): Show a0001c0001t0001g0050 a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0003t0002g0089 a0001c0004t0002g0088 a0001c0006t0002g0087 a0001c0006t0002g0106 a0001c0006t0004g0062 a0001c0037t0002g0083 a0002c0013t0010g0047 a0002c0014t0003g0086 a0003c0010t0003g0104 a0003c0025t0002g0063 a0009c0027t0002g0042	14	186	0.0753	10	c.138 others(27): Show c.138+8387_138+8396dupGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296933	C C	CTATCTAT others(3): Show CTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03490.hp1 HG03492.hp1 HG02258.hp2 HG03490.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0004 a0002c0005t0007 a0001c0004t0004 a0002c0005t0007	a0001c0004t0004g0036 a0001c0004t0004g0039 a0002c0005t0007g0173 a0001c0004t0004g0036 a0001c0004t0004g0039 a0002c0005t0007g0173	3	186	0.0161	10	c.138 others(29): Show c.138+12025_138+12026insATCTATCTAT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296939	C C	CTATCTAT others(3): Show CTATCTATCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02723.hp1 others(2): Show HG02055.hp1 HG02258.hp2 HG02723.hp1 HG03130.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0002c0013 a0001c0002 a0002c0005 a0002c0013	a0001c0002t0010 a0002c0005t0007 a0002c0005t0016 others(1): Show a0001c0002t0010 a0002c0005t0007 a0002c0005t0016 a0002c0013t0016	a0001c0002t0010g0170 a0002c0005t0007g0172 a0002c0005t0007g0173 others(2): Show a0001c0002t0010g0170 a0002c0005t0007g0172 a0002c0005t0007g0173 a0002c0005t0016g0171 a0002c0013t0016g0169	5	186	0.0269	10	c.138 others(29): Show c.138+12032_138+12033insTCTATCCTTA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296939	C C	CTATCTAT others(3): Show CTATCTATCTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(64): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01952.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18956.hp2 NA18970.hp2 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19011.hp2 NA19063.hp1 NA19063.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0018 a0001c0032 a0001c0037 a0002c0005 a0002c0007 a0002c0013 a0002c0028 a0003c0010 a0003c0017 a0003c0023 a0003c0025 a0004c0011 a0011c0036 a0012c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(39): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0003t0002 a0001c0003t0004 a0001c0003t0023 a0001c0004t0002 a0001c0004t0004 a0001c0004t0012 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0008t0001 a0001c0009t0009 a0001c0018t0001 a0001c0032t0011 a0001c0037t0002 a0002c0005t0003 a0002c0005t0005 a0002c0005t0006 a0002c0007t0006 a0002c0007t0020 a0002c0013t0003 a0002c0013t0013 a0002c0028t0003 a0003c0010t0003 a0003c0017t0006 a0003c0023t0002 a0003c0025t0002 a0004c0011t0003 a0004c0011t0006 a0011c0036t0001 a0012c0026t0002	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 others(64): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0003g0054 a0001c0001t0003g0071 a0001c0001t0005g0095 a0001c0001t0006g0061 a0001c0001t0008g0101 a0001c0001t0015g0184 a0001c0001t0019g0014 a0001c0001t0021g0163 a0001c0002t0001g0009 a0001c0002t0001g0105 a0001c0002t0003g0017 a0001c0002t0003g0060 a0001c0002t0005g0157 a0001c0002t0012g0183 a0001c0003t0002g0002 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0057 a0001c0003t0002g0059 a0001c0003t0004g0022 a0001c0003t0004g0092 a0001c0003t0023g0161 a0001c0004t0002g0043 a0001c0004t0004g0036 a0001c0004t0004g0039 a0001c0004t0004g0040 a0001c0004t0004g0048 a0001c0004t0004g0096 a0001c0004t0004g0115 a0001c0004t0012g0177 a0001c0006t0001g0126 a0001c0006t0002g0106 a0001c0006t0002g0110 a0001c0006t0003g0049 a0001c0008t0001g0003 a0001c0008t0001g0066 a0001c0008t0001g0100 a0001c0009t0009g0046 a0001c0018t0001g0075 a0001c0018t0001g0094 a0001c0032t0011g0097 a0001c0037t0002g0083 a0002c0005t0003g0045 a0002c0005t0003g0073 a0002c0005t0005g0158 a0002c0005t0006g0116 a0002c0007t0006g0091 a0002c0007t0020g0181 a0002c0013t0003g0067 a0002c0013t0013g0186 a0002c0028t0003g0038 a0003c0010t0003g0112 a0003c0017t0006g0103 a0003c0023t0002g0072 a0003c0025t0002g0063 a0004c0011t0003g0077 a0004c0011t0006g0044 a0011c0036t0001g0001 a0012c0026t0002g0070	67	186	0.3602	10	c.138 others(29): Show c.138+12032_138+12033insTCTATCTTTA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25332742	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(38): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01952.hp1 HG02148.hp2 HG02257.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 NA18906.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18979.hp1 NA18983.hp2 NA18993.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19011.hp2 NA19063.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0015 a0001c0037 a0002c0005 a0002c0007 a0002c0013 a0002c0014 a0003c0010 a0003c0025 a0004c0011 a0009c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0008 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010 a0001c0004t0002 a0001c0004t0004 a0001c0004t0014 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0008t0001 a0001c0015t0002 a0001c0037t0002 a0002c0005t0005 a0002c0005t0007 a0002c0007t0003 a0002c0013t0003 a0002c0014t0003 a0003c0010t0003 a0003c0025t0002 a0004c0011t0003 a0009c0027t0002	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 others(38): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0001t0006g0061 a0001c0002t0001g0007 a0001c0002t0008g0090 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0057 a0001c0003t0002g0059 a0001c0003t0002g0082 a0001c0003t0002g0089 a0001c0003t0004g0022 a0001c0003t0010g0155 a0001c0004t0002g0043 a0001c0004t0002g0079 a0001c0004t0004g0048 a0001c0004t0014g0150 a0001c0006t0001g0126 a0001c0006t0002g0087 a0001c0006t0002g0110 a0001c0006t0003g0069 a0001c0006t0004g0062 a0001c0008t0001g0018 a0001c0015t0002g0032 a0001c0037t0002g0083 a0002c0005t0005g0158 a0002c0005t0007g0151 a0002c0007t0003g0006 a0002c0013t0003g0067 a0002c0014t0003g0085 a0002c0014t0003g0086 a0003c0010t0003g0104 a0003c0025t0002g0063 a0004c0011t0003g0077 a0009c0027t0002g0042	41	186	0.2204	10	c.138 others(29): Show c.138+47854_138+47863dupACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25340777	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03491.hp2 NA19002.hp2 HG02486.hp1 HG03491.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0012t0006 a0001c0001t0001 a0001c0002t0001 a0001c0012t0006	a0001c0001t0001g0109 a0001c0002t0001g0105 a0001c0012t0006g0118 a0001c0001t0001g0109 a0001c0002t0001g0105 a0001c0012t0006g0118	3	186	0.0161	10	c.138 others(29): Show c.138+55886_138+55895dupTTTTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25387114	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 HG01081.hp1 HG02257.hp2	a0002 a0006 a0002 a0006	a0002c0007 a0006c0016 a0002c0007 a0006c0016	a0002c0007t0006 a0006c0016t0005 a0002c0007t0006 a0006c0016t0005	a0002c0007t0006g0033 a0006c0016t0005g0165 a0002c0007t0006g0033 a0006c0016t0005g0165	2	186	0.0108	10	c.139 others(29): Show c.139-32990_139-32981dupAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441320	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0135 a0001c0002t0016g0135	1	186	0.0054	10	c.371 others(27): Show c.371+5725_371+5734dupATATATATAT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441333	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp2 HG02630.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0031 a0001c0003 a0001c0031	a0001c0003t0010 a0001c0031t0004 a0001c0003t0010 a0001c0031t0004	a0001c0003t0010g0155 a0001c0031t0004g0004 a0001c0003t0010g0155 a0001c0031t0004g0004	2	186	0.0108	10	c.371 others(27): Show c.371+5730_371+5731insGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441335	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0184 a0001c0001t0015g0184	1	186	0.0054	10	c.371 others(27): Show c.371+5732_371+5733insGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(3): Show ATATATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03704.hp2 HG01255.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0084 a0001c0001t0001g0056 a0001c0001t0001g0084	2	186	0.0108	10	c.371 others(27): Show c.371+5734_371+5735insATATATATGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(3): Show ATATATATGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00609.hp2 others(24): Show HG00438.hp2 HG00609.hp1 HG00609.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp2 HG01934.hp2 HG01952.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG03704.hp1 HG04184.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19063.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0003 a0001c0015 others(4): Show a0001c0001 a0001c0003 a0001c0015 a0001c0018 a0002c0013 a0003c0017 a0009c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0015t0009 a0001c0018t0001 a0002c0013t0003 a0003c0017t0006 a0003c0017t0007 a0009c0027t0002	a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0068 others(24): Show a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0003g0071 a0001c0001t0005g0147 a0001c0001t0006g0061 a0001c0001t0007g0141 a0001c0001t0007g0143 a0001c0003t0002g0002 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0052 a0001c0003t0002g0057 a0001c0003t0002g0059 a0001c0003t0003g0053 a0001c0003t0009g0134 a0001c0003t0009g0137 a0001c0003t0009g0138 a0001c0015t0009g0145 a0001c0018t0001g0075 a0001c0018t0001g0094 a0002c0013t0003g0067 a0003c0017t0006g0103 a0003c0017t0007g0153 a0009c0027t0002g0042	27	186	0.1452	10	c.371 others(27): Show c.371+5734_371+5735insATATATGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATGT others(3): Show ATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01361.hp2 HG03225.hp1 HG00621.hp1 HG01361.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0013 a0001c0001 a0001c0002 a0002c0013	a0001c0001t0001 a0001c0002t0001 a0002c0013t0010 a0001c0001t0001 a0001c0002t0001 a0002c0013t0010	a0001c0001t0001g0058 a0001c0002t0001g0005 a0002c0013t0010g0047 a0001c0001t0001g0058 a0001c0002t0001g0005 a0002c0013t0010g0047	3	186	0.0161	10	c.371 others(27): Show c.371+5734_371+5735insATATGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATGTGT others(3): Show ATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp2 others(5): Show HG00140.hp1 HG00323.hp2 HG00597.hp2 HG01175.hp2 HG03139.hp2 NA19002.hp1 NA19011.hp2 NA19063.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0001c0012 others(4): Show a0001c0002 a0001c0004 a0001c0012 a0002c0005 a0003c0010 a0003c0025 a0004c0011	a0001c0002t0005 a0001c0004t0002 a0001c0012t0005 others(4): Show a0001c0002t0005 a0001c0004t0002 a0001c0012t0005 a0002c0005t0006 a0003c0010t0003 a0003c0025t0002 a0004c0011t0003	a0001c0002t0005g0154 a0001c0004t0002g0043 a0001c0012t0005g0156 others(5): Show a0001c0002t0005g0154 a0001c0004t0002g0043 a0001c0012t0005g0156 a0002c0005t0006g0021 a0003c0010t0003g0132 a0003c0025t0002g0063 a0004c0011t0003g0077 a0004c0011t0003g0113	8	186	0.0430	10	c.371 others(27): Show c.371+5734_371+5735insATGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441353	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp1 HG02895.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0012 a0001c0001t0012g0179 a0001c0001t0001g0012 a0001c0001t0012g0179	2	186	0.0108	10	c.371 others(27): Show c.371+5758_371+5759insATGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450912	T T	TTCTCCTC others(3): Show TTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 HG02145.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0018 a0001c0004t0012 a0001c0004t0018	a0001c0004t0012g0177 a0001c0004t0018g0093 a0001c0004t0012g0177 a0001c0004t0018g0093	2	186	0.0108	10	c.614 others(25): Show c.614+246_614+255dupCTCTCCTCTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450912	T T	TTCTCTTC others(3): Show TTCTCTTCTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00609.hp1 others(33): Show HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG01109.hp1 HG01167.hp2 HG01192.hp2 HG01361.hp2 HG01934.hp2 HG01952.hp1 HG02055.hp2 HG02135.hp2 HG02148.hp1 HG02922.hp1 HG03490.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG04184.hp1 NA18522.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18970.hp1 NA18970.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19063.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0015 a0001c0018 a0002c0005 a0002c0007 a0002c0013 a0003c0017 a0004c0011 a0009c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0009 a0001c0004t0002 a0001c0004t0006 a0001c0015t0004 a0001c0015t0009 a0001c0018t0001 a0002c0005t0003 a0002c0007t0006 a0002c0013t0003 a0002c0013t0010 a0003c0017t0006 a0003c0017t0007 a0004c0011t0006 a0009c0027t0002	a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0065 others(33): Show a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0003g0071 a0001c0001t0006g0061 a0001c0001t0007g0141 a0001c0001t0007g0143 a0001c0001t0008g0133 a0001c0003t0002g0002 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0052 a0001c0003t0002g0057 a0001c0003t0002g0059 a0001c0003t0003g0053 a0001c0003t0007g0144 a0001c0003t0009g0134 a0001c0003t0009g0137 a0001c0003t0009g0138 a0001c0004t0002g0088 a0001c0004t0006g0027 a0001c0015t0004g0098 a0001c0015t0009g0145 a0001c0018t0001g0075 a0002c0005t0003g0073 a0002c0007t0006g0091 a0002c0013t0003g0067 a0002c0013t0010g0047 a0003c0017t0006g0103 a0003c0017t0007g0153 a0004c0011t0006g0044 a0009c0027t0002g0042	36	186	0.1936	10	c.614 others(25): Show c.614+205_614+206insTTCTCCTCTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(3): Show CTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0179 a0001c0001t0012g0179	1	186	0.0054	10	c.615 others(27): Show c.615-6604_615-6603insCTTTCTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459268	T T	TTCTTTCT others(3): Show TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02257.hp1 HG01934.hp2 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0009 a0001c0006t0001 a0001c0003t0009 a0001c0006t0001	a0001c0003t0009g0134 a0001c0006t0001g0126 a0001c0003t0009g0134 a0001c0006t0001g0126	2	186	0.0108	10	c.615 others(27): Show c.615-6604_615-6603insCTTTCTTTCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25495538	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18998.hp1 HG02148.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0003g0054 a0001c0001t0001g0051 a0001c0001t0003g0054	2	186	0.0108	10	c.132 others(27): Show c.1325+352_1325+361dupGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	16/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25544606	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0090 a0001c0002t0008g0090	1	186	0.0054	10	c.232 others(29): Show c.2328+4559_2328+4568dupACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	26/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNMT1_chr9_74975790_75033293	75005827	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	366	0.0027	10	c.591 others(27): Show c.591-5967_591-5958dupGTGTGTGTGT	CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7			chr9	TogoVar
CARNS1_chr11_67410678_67430604	67424861	C C	CCACACAC others(3): Show CCACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG02970.hp1 HG02074.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0040 a0002c0002t0028 a0001c0008t0040 a0002c0002t0028	a0001c0008t0040g0027 a0002c0002t0028g0055 a0001c0008t0040g0027 a0002c0002t0028g0055	2	346	0.0058	10	c.28 others(19): Show c.282_*291dupACACACACAC	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10	292	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARNS1_chr11_67410678_67430604	67427073	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG03516.hp2 HG01070.hp1 HG01071.hp2 HG03516.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0024 a0001c0001 a0008c0024	a0001c0001t0001 a0008c0024t0011 a0001c0001t0001 a0008c0024t0011	a0001c0001t0001g0001 a0008c0024t0011g0042 a0001c0001t0001g0001 a0008c0024t0011g0042	3	346	0.0087	10	c.24 others(21): Show c.2472_*2473insTTTTTTTTTT	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding		1470		chr11	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(3): Show CTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0309 a0001c0003t0002g0309	1	372	0.0027	10	c.105 others(29): Show c.1054+1102_1054+1103insAAAAAAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CARTPT_chr5_71714275_71726045	71715591	T T	TTTTTGTT others(3): Show TTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp2 others(152): Show HG00099.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18963.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0003c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0004g0003 a0003c0002t0001g0001	155	474	0.3270	10	c.-37 others(21): Show c.-3703_-3702insTTTTGTTTTG	CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding		3683		chr5	TogoVar
CASC3_chr17_40135537_40177171	40140317	A A	AACACACA others(3): Show AACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02155.hp1 HG02280.hp1 others(3): Show HG00140.hp2 HG02155.hp1 HG02280.hp1 HG02809.hp2 HG02970.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0055 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0002g0017 a0001c0001t0006g0119	6	266	0.0226	10	c.-23 others(19): Show c.-232_-231insACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		219		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140348	A A	ACACACAC others(3): Show ACACACACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	266	0.0038	10	c.-20 others(19): Show c.-201_-200insCACACACACC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		188		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140355	C C	CACACACC others(3): Show CACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	266	0.0038	10	c.-19 others(19): Show c.-194_-193insACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		181		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140373	A A	AACACACA others(3): Show AACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01071.hp2 others(4): Show HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0159	7	266	0.0263	10	c.-17 others(19): Show c.-176_-175insACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		163		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140379	C C	CACACACC others(3): Show CACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02976.hp2 HG03098.hp2 others(4): Show HG02723.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03471.hp1 HG03579.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0008 a0001c0008t0002 a0001c0001t0001 a0001c0001t0008 a0001c0008t0002	a0001c0001t0001g0013 a0001c0001t0001g0239 a0001c0001t0001g0240 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0008g0070 a0001c0008t0002g0015	7	266	0.0263	10	c.-17 others(19): Show c.-170_-169insACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		157		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140381	C C	CACACACC others(3): Show CACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	266	0.0038	10	c.-16 others(19): Show c.-168_-167insACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		155		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140383	C C	CACACACC others(3): Show CACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG01261.hp1 others(3): Show HG00280.hp2 HG00597.hp1 HG01261.hp1 HG02148.hp1 HG02735.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0064 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102	6	266	0.0226	10	c.-16 others(19): Show c.-166_-165insACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		153		chr17	TogoVar
CASC3_chr17_40135537_40177171	40141291	T T	TCATCTAT others(3): Show TCATCTATTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01109.hp2 others(18): Show HG00099.hp1 HG01081.hp1 HG01109.hp2 HG02109.hp2 HG02148.hp2 HG02280.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA19030.hp1 NA20129.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0005 a0001c0001 a0001c0008 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0008t0002 a0004c0005t0005	a0001c0001t0001g0013 a0001c0001t0001g0232 a0001c0001t0001g0233 others(17): Show a0001c0001t0001g0013 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0008t0002g0015 a0004c0005t0005g0014	21	266	0.0790	10	c.259 others(23): Show c.259+60_259+69dupTCTATTTCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CASC3_chr17_40135537_40177171	40164750	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0015 a0001c0008t0002g0015	1	266	0.0038	10	c.147 others(27): Show c.1471+598_1471+607dupTTTTTTTTTT	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar

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