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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COL9A3_chr20_62812050_62846159	62813253	AGCAGGAC others(173): Show AGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAG GCCCCCGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCG GAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGATGAGCCAGCCGA GAGCCCATCGGAGACCCCAGGCCCCCGCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02523.hp1 HG02055.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0003 a0001c0001t0001 a0001c0010t0003	a0001c0001t0001g0222 a0001c0010t0003g0248 a0001c0001t0001g0222 a0001c0010t0003g0248	2	412	0.0049	-180	c.-38 others(11): Show c.-3811_-3632del		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding					3796		chr20	TogoVar
CROCC2_chr2_240901336_240998311	240976133	GGGCTCAT others(173): Show GGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGAAGCCCAGGCT CATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCC CTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCT CAGTCTCTGGGGTAGGAGCCTCTGGAGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00558.hp1 others(18): Show HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00733.hp2 HG00741.hp2 HG01109.hp2 HG01261.hp1 HG01891.hp1 HG01952.hp2 HG02056.hp2 HG02071.hp2 HG02683.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp2 NA18945.hp2 NA18970.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA19070.hp2	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0010	a0002c0002 a0002c0011 a0002c0070 others(3): Show a0002c0002 a0002c0011 a0002c0070 a0003c0003 a0006c0007 a0010c0009	a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0070t0001 a0003c0003t0001 a0003c0003t0002 a0006c0007t0001 a0010c0009t0001 a0010c0009t0002	a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0183 others(18): Show a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0183 a0002c0002t0002g0264 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0011t0002g0305 a0002c0011t0002g0324 a0002c0011t0002g0332 a0002c0070t0001g0188 a0003c0003t0001g0049 a0003c0003t0001g0149 a0003c0003t0002g0256 a0006c0007t0001g0093 a0006c0007t0001g0193 a0006c0007t0001g0194 a0006c0007t0001g0204 a0010c0009t0001g0051 a0010c0009t0001g0090 a0010c0009t0001g0101 a0010c0009t0002g0290	21	350	0.0600	-180	c.440 others(19): Show c.4402-6708_4402-6529del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978277	GGAGCCTC others(173): Show GGAGCCTCAGGATCCCAGGCTCACCCCTCCTCAGTCTCTGGGGTAGGAGC CTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAG GAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCC CAGGCTCATCCCTGCTCAGTCTCTGGGGTAC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19004.hp2 NA19088.hp1 HG02738.hp1 NA19004.hp2 NA19088.hp1	a0002 a0062 a0002 a0062	a0002c0002 a0062c0095 a0002c0002 a0062c0095	a0002c0002t0001 a0062c0095t0002 a0002c0002t0001 a0062c0095t0002	a0002c0002t0001g0120 a0002c0002t0001g0186 a0062c0095t0002g0298 a0002c0002t0001g0120 a0002c0002t0001g0186 a0062c0095t0002g0298	3	350	0.0086	-180	c.440 others(19): Show c.4402-4591_4402-4412del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978587	GGGTAGGA others(173): Show GGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTA GGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGC CTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAG GATCCCAGGCTCATCCCTGCTCCGTCTCTGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03139.hp1 HG00673.hp1 HG03139.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0075 a0002c0002 a0013c0075	a0002c0002t0002 a0013c0075t0001 a0002c0002t0002 a0013c0075t0001	a0002c0002t0002g0316 a0013c0075t0001g0178 a0002c0002t0002g0316 a0013c0075t0001g0178	2	350	0.0057	-180	c.440 others(19): Show c.4402-4121_4402-3942del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979189	GCCCAGAC others(173): Show GCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp2 HG01175.hp2 others(20): Show HG00544.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG02004.hp2 HG02129.hp2 HG02300.hp2 HG03688.hp1 HG03831.hp2 NA18612.hp2 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18984.hp1 NA18986.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19065.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp2	a0001 a0005 a0007 others(4): Show a0001 a0005 a0007 a0009 a0022 a0029 a0040	a0001c0001 a0001c0022 a0005c0005 others(5): Show a0001c0001 a0001c0022 a0005c0005 a0007c0006 a0009c0010 a0022c0038 a0029c0049 a0040c0057	a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 a0005c0005t0001 a0007c0006t0001 a0007c0006t0009 a0009c0010t0001 a0022c0038t0001 a0029c0049t0001 a0040c0057t0002	a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0084 others(20): Show a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0155 a0001c0001t0001g0191 a0001c0001t0002g0248 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0022t0002g0322 a0001c0022t0002g0343 a0005c0005t0001g0016 a0005c0005t0001g0075 a0007c0006t0001g0013 a0007c0006t0001g0055 a0007c0006t0009g0102 a0009c0010t0001g0115 a0009c0010t0001g0200 a0022c0038t0001g0050 a0029c0049t0001g0198 a0040c0057t0002g0335	23	350	0.0657	-180	c.440 others(19): Show c.4402-3685_4402-3506del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979256	TCTCTGGG others(173): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0017 a0017	a0017c0062 a0017c0062	a0017c0062t0001 a0017c0062t0001	a0017c0062t0001g0161 a0017c0062t0001g0161	1	350	0.0029	-180	c.440 others(19): Show c.4402-3580_4402-3401del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979864	GCCCAGGC others(173): Show GCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCCGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02145.hp2 HG02723.hp1	a0017 a0031 a0017 a0031	a0017c0062 a0031c0052 a0017c0062 a0031c0052	a0017c0062t0001 a0031c0052t0001 a0017c0062t0001 a0031c0052t0001	a0017c0062t0001g0161 a0031c0052t0001g0169 a0017c0062t0001g0161 a0031c0052t0001g0169	2	350	0.0057	-180	c.440 others(19): Show c.4402-2951_4402-2772del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980044	TCCCAGGC others(173): Show TCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCC TGCTCAAGCTCTGGGGTAGGAGCCTCAGGAG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01516.hp2 HG02155.hp1 others(1): Show HG00673.hp1 HG01516.hp2 HG02155.hp1 NA18998.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0007 a0002c0002 a0003c0003 a0006c0007	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0006c0007t0001	a0002c0002t0001g0152 a0002c0002t0002g0316 a0003c0003t0001g0021 others(1): Show a0002c0002t0001g0152 a0002c0002t0002g0316 a0003c0003t0001g0021 a0006c0007t0001g0208	4	350	0.0114	-180	c.440 others(19): Show c.4402-2791_4402-2612del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(173): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp1 HG01952.hp2 others(4): Show HG00673.hp2 HG01074.hp1 HG01952.hp2 HG02486.hp1 HG02717.hp2 HG02895.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0002g0156 a0001c0008t0001g0010 a0001c0008t0001g0198 others(4): Show a0001c0001t0002g0156 a0001c0008t0001g0010 a0001c0008t0001g0198 a0001c0008t0001g0199 a0001c0008t0001g0200 a0001c0008t0001g0203 a0001c0008t0001g0204	7	378	0.0185	-180	c.274 others(19): Show c.2747+3511_2747+3690del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CYB5R3_chr22_42612840_42654392	42634604	GCCCGGCT others(173): Show GCCCGGCTAATTTTCATATTGATTGATTGATTGATTGATTGAGACAGCGT CTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTG CAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCTTCAGCCTCTGGAG TAGCTGGGATTACAGGCATCTGCCACCACGC	G G	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0271 a0001c0001t0029g0271	1	360	0.0028	-180	c.153 others(17): Show c.153+1931_153+2110del		CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding	2/8						chr22	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(173): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01993.hp2 HG02074.hp2 others(4): Show HG01123.hp1 HG01993.hp2 HG02074.hp2 HG02132.hp1 NA18971.hp2 NA18982.hp2 NA19005.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0002 a0003c0003 a0011c0025 a0001c0002 a0003c0003 a0011c0025	a0001c0002t0001 a0001c0002t0051 a0001c0002t0131 others(3): Show a0001c0002t0001 a0001c0002t0051 a0001c0002t0131 a0001c0002t0149 a0003c0003t0126 a0011c0025t0020	a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0051g0260 others(4): Show a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0051g0260 a0001c0002t0131g0216 a0001c0002t0149g0289 a0003c0003t0126g0088 a0011c0025t0020g0285	7	386	0.0181	-180	c.199 others(17): Show c.199-2104_199-1925del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932021	TGAGGAGA others(173): Show TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0137 a0001c0002t0137	a0001c0002t0137g0254 a0001c0002t0137g0254	1	386	0.0026	-180	c.198 others(17): Show c.198+2010_198+2189del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932063	AGGAGAAG others(173): Show AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0232 a0001c0002t0043g0232	1	386	0.0026	-180	c.198 others(17): Show c.198+1968_198+2147del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932141	TGAGGAGA others(173): Show TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0107 a0001c0006t0107	a0001c0006t0107g0124 a0001c0006t0107g0124	1	386	0.0026	-180	c.198 others(17): Show c.198+1890_198+2069del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932283	AGGAGAGG others(173): Show AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0025 a0003c0016t0025	a0003c0016t0025g0074 a0003c0016t0025g0074	1	386	0.0026	-180	c.198 others(17): Show c.198+1748_198+1927del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932441	CGGGGAGA others(173): Show CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0132 a0002c0001t0010g0132	1	386	0.0026	-180	c.198 others(17): Show c.198+1590_198+1769del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932909	GGAATGAG others(173): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	386	0.0026	-180	c.198 others(17): Show c.198+1122_198+1301del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933685	GAGAAGAA others(173): Show GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG CAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0178 a0002c0001t0005g0178	1	386	0.0026	-180	c.198 others(15): Show c.198+346_198+525del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
DAAM2_chr6_39787376_39909869	39841045	GGCAGGGT others(173): Show GGCAGGGTTCCAGGGGGAGGGGCGCTGGGAAGAGGGGCTCCAGGGGGAGG GGTTCCAGGGTAGAGGGAACTCCTTGGGGAAGGGTTGGGGAGGGGCTTCT AGGGCGAGGGTTCCAGGGGGAGAGGCTCCAGGGGGAGGGAGTCCCAGGGG GAGGGTTCCATGGGGAGGAGCTCCAGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19006.hp1 NA19060.hp1 HG02004.hp2 NA19006.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0003 a0001c0001t0001 a0001c0002t0002 a0001c0003t0003	a0001c0001t0001g0096 a0001c0002t0002g0097 a0001c0003t0003g0008 a0001c0001t0001g0096 a0001c0002t0002g0097 a0001c0003t0003g0008	3	300	0.0100	-180	c.-56 others(19): Show c.-56-15161_-56-14982del		DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
DAAM2_chr6_39787376_39909869	39841086	AGGGGGAG others(173): Show AGGGGGAGGGGTTCCAGGGTAGAGGGAACTCCTTGGGGAAGGGTTGGGGA GGGGCTTCTAGGGCGAGGGTTCCAGGGGGAGAGGCTCCAGGGGGAGGGAG TCCCAGGGGGAGGGTTCCATGGGGAGGAGCTCCAGGGGCAGCAGGGTTCC AGGGGGAGGGGCGCTGGGAAGAGGGGCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(64): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG01081.hp1 HG01255.hp2 HG01891.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18981.hp2 NA18994.hp1 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19062.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp2 NA19090.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0015	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0032 a0001c0033 a0002c0010 a0002c0015 a0003c0024 a0004c0030 a0015c0035	a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 others(26): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 a0001c0002t0030 a0001c0003t0003 a0001c0004t0003 a0001c0004t0004 a0001c0004t0026 a0001c0004t0031 a0001c0005t0004 a0001c0005t0011 a0001c0005t0014 a0001c0006t0001 a0001c0006t0027 a0001c0007t0013 a0001c0008t0005 a0001c0009t0009 a0001c0009t0029 a0001c0012t0002 a0001c0013t0023 a0001c0014t0001 a0001c0014t0017 a0001c0032t0009 a0001c0033t0001 a0002c0010t0002 a0002c0015t0003 a0003c0024t0001 a0004c0030t0001 a0015c0035t0003	a0001c0001t0001g0034 a0001c0001t0001g0075 a0001c0001t0001g0076 others(64): Show a0001c0001t0001g0034 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0229 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0010g0084 a0001c0002t0002g0113 a0001c0002t0002g0180 a0001c0002t0002g0184 a0001c0002t0002g0191 a0001c0002t0002g0278 a0001c0002t0030g0174 a0001c0003t0003g0059 a0001c0003t0003g0083 a0001c0003t0003g0103 a0001c0003t0003g0108 a0001c0003t0003g0110 a0001c0003t0003g0176 a0001c0003t0003g0179 a0001c0003t0003g0216 a0001c0003t0003g0268 a0001c0003t0003g0270 a0001c0004t0003g0102 a0001c0004t0004g0046 a0001c0004t0004g0061 a0001c0004t0004g0091 a0001c0004t0004g0139 a0001c0004t0004g0171 a0001c0004t0026g0027 a0001c0004t0031g0294 a0001c0005t0004g0063 a0001c0005t0004g0081 a0001c0005t0004g0212 a0001c0005t0011g0030 a0001c0005t0011g0042 a0001c0005t0011g0092 a0001c0005t0011g0124 a0001c0005t0014g0175 a0001c0006t0001g0040 a0001c0006t0001g0190 a0001c0006t0027g0188 a0001c0007t0013g0082 a0001c0008t0005g0025 a0001c0009t0009g0128 a0001c0009t0029g0173 a0001c0012t0002g0241 a0001c0013t0023g0169 a0001c0013t0023g0170 a0001c0014t0001g0029 a0001c0014t0017g0266 a0001c0032t0009g0168 a0001c0033t0001g0044 a0002c0010t0002g0236 a0002c0010t0002g0255 a0002c0010t0002g0256 a0002c0015t0003g0094 a0002c0015t0003g0217 a0003c0024t0001g0028 a0004c0030t0001g0192 a0015c0035t0003g0172	67	300	0.2233	-180	c.-56 others(19): Show c.-56-15042_-56-14863del		DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
DHRSX_chrX_2214506_2505976	2277162	GAGAGAAA others(173): Show GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGA GAGAAGGAAGAGGAGGAAATGGGGGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	50	0.0200	-180	c.389 others(19): Show c.389-10395_389-10216del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DLC1_chr8_13078361_13519851	13353342	TCCTATAA others(173): Show TCCTATAATATCTGTAAAAGACTTCACTGTTTGTGTTCTTAAAACAACAA CAGGCCAGGCGTTCTGGTTGGTTGCCCCATTGAGTAATGATGACTAGAGT GGGAATGAGTGTGGTTTTGAAGAGAATATAGAATATGATTAGTTCTGTGG CAGTGAATGTTATAATCAAAGAAATTTGTAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0120 a0001c0004t0003g0120	1	212	0.0047	-180	c.131 others(21): Show c.1314+40031_1314+40210del		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	4/17						chr8	TogoVar
DOCK8_chr9_209865_470255	322111	CACTCACG others(173): Show CACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAA ACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGG CTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTG ACCAGAGATGGCTGGGCTCAAAACCTGACCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01081.hp1 others(17): Show HG00140.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01975.hp2 HG01981.hp2 HG02886.hp1 HG03041.hp2 HG03490.hp2 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0023 a0024 a0030 a0051	a0001c0014 a0001c0050 a0002c0095 others(14): Show a0001c0014 a0001c0050 a0002c0095 a0004c0041 a0004c0042 a0004c0043 a0006c0010 a0006c0024 a0006c0025 a0006c0026 a0006c0027 a0006c0028 a0023c0142 a0023c0143 a0024c0124 a0030c0084 a0051c0129	a0001c0014t0001 a0001c0050t0004 a0002c0095t0001 others(14): Show a0001c0014t0001 a0001c0050t0004 a0002c0095t0001 a0004c0041t0001 a0004c0042t0002 a0004c0043t0001 a0006c0010t0001 a0006c0024t0001 a0006c0025t0001 a0006c0026t0001 a0006c0027t0002 a0006c0028t0001 a0023c0142t0001 a0023c0143t0001 a0024c0124t0001 a0030c0084t0003 a0051c0129t0004	a0001c0014t0001g0243 a0001c0014t0001g0244 a0001c0050t0004g0057 others(17): Show a0001c0014t0001g0243 a0001c0014t0001g0244 a0001c0050t0004g0057 a0002c0095t0001g0002 a0004c0041t0001g0246 a0004c0042t0002g0197 a0004c0043t0001g0245 a0006c0010t0001g0183 a0006c0010t0001g0185 a0006c0010t0001g0187 a0006c0024t0001g0210 a0006c0025t0001g0186 a0006c0026t0001g0184 a0006c0027t0002g0193 a0006c0028t0001g0211 a0023c0142t0001g0168 a0023c0143t0001g0166 a0024c0124t0001g0205 a0030c0084t0003g0198 a0051c0129t0004g0144	20	256	0.0781	-180	c.828 others(17): Show c.828-3558_828-3379del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	469390	CCGGGTAG others(173): Show CCGGGTAGAAGAAAGAAAGGGTATCAGTGGAACTGAGAGTGTATACAGTG GCGCCTGAAAGCGGGTAGAAGAAAGAAAGGGTATCAGTGGAACTGAGAGT GTATACAGTGGCGCCTGAAAGCGGGTAGAAGAAAGAAAGGGTATCAGTGG AACTGAGAGTGTATACAGTGGCGCCTGAAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(215): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(49): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0027 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0046 a0047 a0048 a0049 a0051 a0052 a0053 a0054 a0056 a0057 a0058 a0060 a0061	a0001c0002 a0001c0003 a0001c0011 others(128): Show a0001c0002 a0001c0003 a0001c0011 a0001c0014 a0001c0030 a0001c0033 a0001c0036 a0001c0049 a0001c0050 a0001c0051 a0001c0054 a0001c0056 a0001c0059 a0001c0061 a0001c0062 a0001c0064 a0001c0066 a0001c0067 a0001c0072 a0002c0005 a0002c0006 a0002c0007 a0002c0008 a0002c0012 a0002c0020 a0002c0021 a0002c0075 a0002c0077 a0002c0095 a0002c0096 a0002c0098 a0002c0099 a0002c0102 a0002c0104 a0002c0107 a0002c0112 a0002c0113 a0002c0114 a0002c0115 a0003c0001 a0003c0004 a0003c0133 a0003c0134 a0003c0135 a0003c0138 a0004c0019 a0004c0039 a0004c0040 a0004c0041 a0004c0043 a0004c0044 a0004c0073 a0005c0013 a0005c0144 a0005c0145 a0005c0155 a0005c0158 a0005c0160 a0006c0010 a0006c0024 a0006c0025 a0006c0026 a0006c0028 a0007c0009 a0007c0078 a0008c0022 a0008c0083 a0008c0117 a0008c0118 a0008c0119 a0009c0015 a0009c0017 a0009c0060 a0010c0091 a0010c0092 a0010c0103 a0010c0106 a0011c0154 a0011c0156 a0011c0157 a0012c0163 a0012c0164 a0012c0165 a0013c0080 a0013c0093 a0013c0094 a0014c0034 a0014c0058 a0014c0065 a0016c0081 a0016c0100 a0017c0023 a0019c0031 a0019c0047 a0020c0070 a0021c0162 a0022c0150 a0022c0152 a0023c0142 a0023c0143 a0024c0124 a0027c0101 a0029c0082 a0030c0084 a0031c0121 a0032c0089 a0033c0088 a0034c0087 a0035c0090 a0036c0123 a0037c0029 a0038c0068 a0039c0052 a0040c0048 a0041c0053 a0042c0055 a0043c0057 a0044c0037 a0046c0045 a0047c0146 a0048c0151 a0049c0153 a0051c0129 a0052c0136 a0053c0139 a0054c0137 a0056c0140 a0057c0130 a0058c0132 a0060c0128 a0061c0166	a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 others(132): Show a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 a0001c0014t0001 a0001c0030t0001 a0001c0033t0004 a0001c0036t0001 a0001c0049t0013 a0001c0050t0004 a0001c0051t0004 a0001c0054t0001 a0001c0056t0005 a0001c0059t0001 a0001c0061t0001 a0001c0062t0001 a0001c0064t0001 a0001c0066t0014 a0001c0067t0001 a0001c0072t0004 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0008t0001 a0002c0012t0001 a0002c0020t0003 a0002c0021t0001 a0002c0021t0005 a0002c0075t0003 a0002c0077t0003 a0002c0095t0001 a0002c0096t0001 a0002c0098t0001 a0002c0099t0004 a0002c0102t0001 a0002c0104t0005 a0002c0107t0001 a0002c0112t0001 a0002c0113t0001 a0002c0114t0001 a0002c0115t0001 a0003c0001t0001 a0003c0001t0009 a0003c0001t0016 a0003c0004t0001 a0003c0133t0001 a0003c0134t0001 a0003c0135t0001 a0003c0138t0001 a0004c0019t0001 a0004c0039t0004 a0004c0040t0001 a0004c0041t0001 a0004c0043t0001 a0004c0044t0001 a0004c0073t0001 a0005c0013t0001 a0005c0144t0004 a0005c0145t0001 a0005c0155t0001 a0005c0158t0001 a0005c0160t0005 a0006c0010t0001 a0006c0024t0001 a0006c0025t0001 a0006c0026t0001 a0006c0028t0001 a0007c0009t0001 a0007c0078t0001 a0008c0022t0001 a0008c0083t0001 a0008c0117t0001 a0008c0118t0001 a0008c0119t0001 a0009c0015t0003 a0009c0015t0007 a0009c0017t0003 a0009c0060t0003 a0010c0091t0001 a0010c0092t0011 a0010c0103t0003 a0010c0106t0008 a0011c0154t0001 a0011c0156t0001 a0011c0157t0001 a0012c0163t0001 a0012c0164t0001 a0012c0165t0005 a0013c0080t0001 a0013c0093t0001 a0013c0094t0001 a0014c0034t0004 a0014c0058t0001 a0014c0065t0001 a0016c0081t0001 a0016c0100t0004 a0017c0023t0005 a0019c0031t0001 a0019c0047t0001 a0020c0070t0001 a0021c0162t0001 a0022c0150t0001 a0022c0152t0001 a0023c0142t0001 a0023c0143t0001 a0024c0124t0001 a0027c0101t0007 a0029c0082t0001 a0030c0084t0003 a0031c0121t0009 a0032c0089t0001 a0033c0088t0003 a0034c0087t0001 a0035c0090t0003 a0036c0123t0001 a0037c0029t0001 a0038c0068t0003 a0039c0052t0001 a0040c0048t0008 a0041c0053t0001 a0042c0055t0002 a0043c0057t0001 a0044c0037t0003 a0046c0045t0003 a0047c0146t0001 a0048c0151t0003 a0049c0153t0001 a0051c0129t0004 a0052c0136t0001 a0053c0139t0003 a0054c0137t0001 a0056c0140t0004 a0057c0130t0001 a0058c0132t0001 a0060c0128t0003 a0061c0166t0018	a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(215): Show a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0081 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0102 a0001c0002t0001g0115 a0001c0002t0001g0195 a0001c0002t0001g0221 a0001c0002t0001g0253 a0001c0003t0001g0044 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0103 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0110 a0001c0003t0001g0117 a0001c0003t0001g0119 a0001c0011t0001g0023 a0001c0011t0001g0024 a0001c0011t0001g0025 a0001c0014t0001g0243 a0001c0014t0001g0244 a0001c0030t0001g0065 a0001c0033t0004g0125 a0001c0036t0001g0033 a0001c0049t0013g0219 a0001c0050t0004g0057 a0001c0051t0004g0059 a0001c0054t0001g0214 a0001c0056t0005g0086 a0001c0059t0001g0100 a0001c0061t0001g0080 a0001c0062t0001g0164 a0001c0064t0001g0032 a0001c0066t0014g0084 a0001c0067t0001g0006 a0001c0072t0004g0239 a0002c0005t0001g0096 a0002c0005t0001g0109 a0002c0005t0001g0180 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0196 a0002c0005t0001g0206 a0002c0006t0001g0116 a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0226 a0002c0006t0001g0237 a0002c0006t0001g0238 a0002c0007t0001g0058 a0002c0007t0001g0105 a0002c0007t0001g0194 a0002c0007t0001g0251 a0002c0007t0001g0252 a0002c0008t0001g0111 a0002c0008t0001g0112 a0002c0008t0001g0113 a0002c0008t0001g0114 a0002c0012t0001g0074 a0002c0012t0001g0093 a0002c0020t0003g0038 a0002c0020t0003g0039 a0002c0021t0001g0242 a0002c0021t0005g0250 a0002c0075t0003g0085 a0002c0077t0003g0018 a0002c0095t0001g0002 a0002c0096t0001g0010 a0002c0098t0001g0027 a0002c0099t0004g0031 a0002c0102t0001g0204 a0002c0104t0005g0045 a0002c0107t0001g0073 a0002c0112t0001g0224 a0002c0113t0001g0235 a0002c0114t0001g0015 a0002c0115t0001g0037 a0003c0001t0001g0048 a0003c0001t0001g0130 a0003c0001t0001g0131 a0003c0001t0001g0132 a0003c0001t0001g0133 a0003c0001t0001g0135 a0003c0001t0001g0138 a0003c0001t0001g0145 a0003c0001t0001g0147 a0003c0001t0001g0148 a0003c0001t0001g0149 a0003c0001t0001g0151 a0003c0001t0001g0152 a0003c0001t0001g0153 a0003c0001t0001g0154 a0003c0001t0001g0158 a0003c0001t0009g0167 a0003c0001t0016g0157 a0003c0004t0001g0051 a0003c0004t0001g0134 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0141 a0003c0004t0001g0146 a0003c0004t0001g0156 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0133t0001g0142 a0003c0134t0001g0217 a0003c0135t0001g0173 a0003c0138t0001g0143 a0004c0019t0001g0091 a0004c0019t0001g0092 a0004c0039t0004g0056 a0004c0040t0001g0216 a0004c0041t0001g0246 a0004c0043t0001g0245 a0004c0044t0001g0072 a0004c0073t0001g0068 a0005c0013t0001g0188 a0005c0013t0001g0189 a0005c0013t0001g0190 a0005c0144t0004g0028 a0005c0145t0001g0172 a0005c0155t0001g0176 a0005c0158t0001g0140 a0005c0160t0005g0129 a0006c0010t0001g0183 a0006c0010t0001g0185 a0006c0010t0001g0187 a0006c0024t0001g0210 a0006c0025t0001g0186 a0006c0026t0001g0184 a0006c0028t0001g0211 a0007c0009t0001g0078 a0007c0009t0001g0249 a0007c0009t0001g0254 a0007c0009t0001g0255 a0007c0078t0001g0035 a0008c0022t0001g0201 a0008c0022t0001g0227 a0008c0083t0001g0034 a0008c0117t0001g0016 a0008c0118t0001g0036 a0008c0119t0001g0213 a0009c0015t0003g0118 a0009c0015t0007g0062 a0009c0017t0003g0020 a0009c0017t0003g0212 a0009c0060t0003g0241 a0010c0091t0001g0076 a0010c0092t0011g0126 a0010c0103t0003g0230 a0010c0106t0008g0075 a0011c0154t0001g0067 a0011c0156t0001g0052 a0011c0157t0001g0150 a0012c0163t0001g0170 a0012c0164t0001g0215 a0012c0165t0005g0017 a0013c0080t0001g0061 a0013c0093t0001g0009 a0013c0094t0001g0095 a0014c0034t0004g0128 a0014c0058t0001g0021 a0014c0065t0001g0165 a0016c0081t0001g0082 a0016c0100t0004g0054 a0017c0023t0005g0207 a0017c0023t0005g0208 a0019c0031t0001g0220 a0019c0047t0001g0022 a0020c0070t0001g0209 a0021c0162t0001g0014 a0022c0150t0001g0179 a0022c0152t0001g0175 a0023c0142t0001g0168 a0023c0143t0001g0166 a0024c0124t0001g0205 a0027c0101t0007g0055 a0029c0082t0001g0228 a0030c0084t0003g0198 a0031c0121t0009g0200 a0032c0089t0001g0120 a0033c0088t0003g0003 a0034c0087t0001g0083 a0035c0090t0003g0019 a0036c0123t0001g0240 a0037c0029t0001g0047 a0038c0068t0003g0077 a0039c0052t0001g0079 a0040c0048t0008g0012 a0041c0053t0001g0101 a0042c0055t0002g0181 a0043c0057t0001g0182 a0044c0037t0003g0236 a0046c0045t0003g0004 a0047c0146t0001g0013 a0048c0151t0003g0174 a0049c0153t0001g0171 a0051c0129t0004g0144 a0052c0136t0001g0155 a0053c0139t0003g0177 a0054c0137t0001g0139 a0056c0140t0004g0064 a0057c0130t0001g0169 a0058c0132t0001g0066 a0060c0128t0003g0247 a0061c0166t0018g0001	218	256	0.8516	-180	c.51 others(11): Show c.5172_*5351del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding					4136		chr9	TogoVar
DPH7_chr9_137549444_137583925	137565507	GTGACTCT others(173): Show GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAA GCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGT CTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGG GTGACTCTGTCTGTGAGGAAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	340	0.0029	-180	c.641 others(15): Show c.641-533_641-354del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566419	GTGACTCT others(173): Show GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAA GCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGT CTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGG GTGACTCTGTCTGTGAGGAAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0124 a0001c0001t0001g0044 a0001c0001t0001g0124	2	340	0.0059	-180	c.641 others(17): Show c.641-1445_641-1266del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566753	CTCTGTCT others(173): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGT GAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT GTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	340	0.0029	-180	c.641 others(17): Show c.641-1779_641-1600del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567401	CTCTGTCT others(173): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGA GGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT GTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	340	0.0029	-180	c.641 others(17): Show c.641-2427_641-2248del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567546	ACTCTGTC others(173): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGAC TCTGTCCGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	340	0.0029	-180	c.641 others(17): Show c.641-2572_641-2393del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DRD1_chr5_175435036_175449182	175442442	TCCTGTAG others(173): Show TCCTGTAGATCCTGGTGTAGGTGACAATCATGATGGCCACAGGGATGTAA AAGCTTATTACAGAGGATGAGATGGCATATGTCCTGCTGAGGCTGGAGTC ACAGTTGTCTATGGTCTCAGCCAGGGAAGTGGCATTTCCATCAGAGGGGC TTGTGGGTTTTGCCTTGTGCCAGCTGAGCTG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0027 a0002c0006t0001g0027	1	490	0.0020	-180	c.478 others(7): Show c.478_657del	p.Gln others(13): Show p.Gln160_Arg219del	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding	2/2	1624/4031	478/1341	160/446			chr5	TogoVar
EHD2_chr19_47708422_47748134	47718715	GGCTGGGG others(173): Show GGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGA CTCCTGGATCTGAGGGAGGAGGGGCTGGGCCCAGACTCCTGGGTCTGAGG GAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGACTGG GGTCTGGACTCCTGGGTCTGAGGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0081	1	398	0.0025	-180	c.502 others(15): Show c.502+117_502+296del		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
ENOSF1_chr18_665318_717630	666915	TGATGGAG others(173): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAG ATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGAGATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGG TGATGGTGATGGAGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG01361.hp1 others(6): Show HG01175.hp2 HG01257.hp1 HG01361.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02148.hp1 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0001 a0001c0003t0001 a0002c0005t0001	a0001c0003t0001g0023 a0002c0005t0001g0005 a0002c0005t0001g0019 others(5): Show a0001c0003t0001g0023 a0002c0005t0001g0005 a0002c0005t0001g0019 a0002c0005t0001g0038 a0002c0005t0001g0094 a0002c0005t0001g0176 a0002c0005t0001g0210 a0002c0005t0001g0232	9	418	0.0215	-180	c.72 others(11): Show c.7210_*7389del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3402		chr18	TogoVar
ERBB4_chr2_211370717_212543802	211860943	ATTTTATA others(173): Show ATTTTATATATATATAAATATATAAATATATTTAAATATATTATATAATA TAATATATTATATATTTATATATTTATATATATATAAATATAATATATTT ATATATTTATATATATATAAATATAATATATTTATATATTATAAAATATA TAAATACATTATATATATTTATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp2 HG02145.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0045 a0001c0002t0001g0020 a0001c0001t0001g0045 a0001c0002t0001g0020	2	56	0.0357	-180	c.422 others(19): Show c.422-72964_422-72785del		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27						chr2	TogoVar
ERFL_chr19_41902704_41933449	41914699	CCCCTTCC others(173): Show CCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCT CCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGT CTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCT CTCCCCCCCTCCACCATCTCTGTCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	330	0.0030	-180	c.-13 others(17): Show c.-13-1947_-13-1768del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
EXOC3L4_chr14_103089725_103115559	103109399	CCTCCCTC others(173): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02015.hp1 HG03927.hp2 HG01069.hp1 HG02015.hp1 HG03927.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0011 a0003c0001 a0004c0002 a0002c0011 a0003c0001 a0004c0002	a0002c0011t0001 a0003c0001t0003 a0004c0002t0003 a0002c0011t0001 a0003c0001t0003 a0004c0002t0003	a0002c0011t0001g0041 a0003c0001t0003g0166 a0004c0002t0003g0048 a0002c0011t0001g0041 a0003c0001t0003g0166 a0004c0002t0003g0048	3	404	0.0074	-180	c.197 others(17): Show c.1977-630_1977-451del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109435	CCTCCCTC others(173): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCAT GTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0044 a0002c0007t0003g0078 a0002c0007t0003g0044 a0002c0007t0003g0078	2	404	0.0050	-180	c.197 others(17): Show c.1977-594_1977-415del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM161A_chr2_61819848_61859060	61848889	TATATATT others(173): Show TATATATTTATATATATATTTATATATTTATATATATTTATATATATATA TTTATATATATTTATATATATATTTATATATATATATATTTATATATTTA TATATATTTATATATATATTTATATATTTATATATATTTATATATATATT TATATATTTATATATATTTATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(53): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02273.hp1 HG02300.hp1 HG02698.hp1 HG02809.hp1 HG03239.hp2 HG03927.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18948.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18980.hp1 NA18982.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0021 a0001c0001t0022 others(2): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0022 a0001c0003t0001 a0001c0003t0014	a0001c0001t0002g0036 a0001c0001t0002g0151 a0001c0001t0002g0153 others(27): Show a0001c0001t0002g0036 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0021g0152 a0001c0001t0022g0154 a0001c0003t0001g0001 a0001c0003t0001g0006 a0001c0003t0001g0013 a0001c0003t0001g0027 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0092 a0001c0003t0001g0099 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0155 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0014g0156	56	400	0.1400	-180	c.183 others(17): Show c.183+4790_183+4969del		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6						chr2	TogoVar
FLT4_chr5_180596506_180654600	180635077	GGAGGGTG others(173): Show GGAGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGAGGGGTGGG TGGATGGATGCATGGATGGATGGAAGGGTGGGTGGATGGATGGATGGAAG TATGGGTGGATGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGA TGGGTGGGTGGGTGGATGGATGGATGGAAGT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01070.hp2 HG01071.hp1 others(2): Show HG00609.hp2 HG01070.hp2 HG01071.hp1 NA18993.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0205 a0002c0002t0001g0351 a0002c0002t0001g0352 others(2): Show a0002c0002t0001g0205 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0004g0203 a0002c0002t0004g0204	5	388	0.0129	-180	c.59- others(15): Show c.59-3479_59-3300del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
FMNL2_chr2_152330174_152654826	152357348	CACGATAA others(173): Show CACGATAAATATTAAATCAGTTTAATGTATAACGATAAATATTAAATCAG TTTAATGTATAACGATAAATATTAAATCAGTTTAATGTATAACGATAAAT ATTAAATCAGTTTAATGTATAACGATAAATATTAAATCAGTTTAATGTAT AACGATAAATATTAAATCAGTTTAATGTATA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0007 a0002c0012t0007	a0002c0012t0007g0109 a0002c0012t0007g0109	1	200	0.0050	-180	c.117 others(19): Show c.117+21781_117+21960del		FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
FZR1_chr19_3501311_3543334	3528636	AGAGTGGA others(173): Show AGAGTGGATGGGAGAGTGGATGGGAGAATGGATGAGAGAGTGGATGGGTG AGCGGATGAGAGAGTGGATGGGTGAGCAGATTAGGGAGTGGATGGGTGAG TGGATGGGAGAGTGGGTGGGTGTGTGGATGGGTGCGTGGATGGGTGCGTG GATGGGAGAGTGGATGGGTACGTGGATGGGT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0077 a0001c0001t0043g0077	1	314	0.0032	-180	c.654 others(16): Show c.654+837_654+1016del		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241806161	CCCCTCAG others(173): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01074.hp1 NA18954.hp2 others(1): Show HG00642.hp2 HG01074.hp1 NA18954.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0178 a0001c0001t0002g0198 a0002c0002t0001g0003 others(1): Show a0001c0001t0002g0178 a0001c0001t0002g0198 a0002c0002t0001g0003 a0002c0002t0002g0085	4	314	0.0127	-180	c.19 others(11): Show c.1996_*2175del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1875		chr2	TogoVar
GALNS_chr16_88808734_88861947	88831205	CGAGGAGA others(173): Show CGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTG AGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGG GTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGA GAGCGGTGAGGCCGAGCACGGGGTGCGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02976.hp1 others(3): Show HG02055.hp2 HG02723.hp1 HG02976.hp1 HG03486.hp2 NA19240.hp2 NA21309.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0026 a0003c0007t0004g0066 a0003c0007t0004g0103 others(3): Show a0003c0007t0004g0026 a0003c0007t0004g0066 a0003c0007t0004g0103 a0003c0007t0004g0104 a0003c0007t0004g0105 a0003c0007t0004g0114	6	404	0.0149	-180	c.100 others(17): Show c.1002+613_1002+792del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88831450	TGCGTGGG others(173): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCCGAGCACGGGGA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02155.hp2 HG02258.hp1 others(3): Show HG01256.hp1 HG02155.hp2 HG02258.hp1 HG02886.hp1 HG03453.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0003c0006t0006 a0001c0001t0001 a0003c0006t0001 a0003c0006t0006	a0001c0001t0001g0282 a0001c0001t0001g0369 a0003c0006t0001g0022 others(3): Show a0001c0001t0001g0282 a0001c0001t0001g0369 a0003c0006t0001g0022 a0003c0006t0006g0393 a0003c0006t0006g0396 a0003c0006t0006g0397	6	404	0.0149	-180	c.100 others(17): Show c.1002+368_1002+547del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GNG12_chr1_67696475_67838467	67710026	ATATATAT others(173): Show ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTATATATATATAGTTATATATATAGTTATATATATAGTTATATATATAG TTATATATATAGTTATATATATATAGTTATATATATATAGTTATATATAT ATAGTTATATATATAGTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18975.hp2 HG03669.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0075 a0001c0001t0002g0053 a0001c0001t0002g0075	2	274	0.0073	-180	c.-26 others(17): Show c.-26-2494_-26-2315del		GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3						chr1	TogoVar
GRTP1_chr13_113319163_113369130	113346739	CGGGAGGA others(173): Show CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAA AGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACC TCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02273.hp2 HG04204.hp2 HG00621.hp2 HG02273.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0001g0232 a0001c0001t0002g0135 a0001c0001t0001g0103 a0001c0001t0001g0232 a0001c0001t0002g0135	3	288	0.0104	-180	c.466 others(17): Show c.466-1960_466-1781del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347328	AGACCCGG others(173): Show AGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGA AGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGA GGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTCTGTGGCCGAGAGC AGACCTGGGAGGACCTCTGTGGCCGAGAGCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	288	0.0035	-180	c.466 others(17): Show c.466-2549_466-2370del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347339	GACCTCTG others(173): Show GACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCA GACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTG GCTGAGAGCAGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAG GACCTCTGTGGCCGAGAGCGGACCCAGGAGC	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	288	0.0035	-180	c.466 others(17): Show c.466-2560_466-2381del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
HMHB1_chr5_143807161_143825716	143815694	ATTTTTGT others(173): Show ATTTTTGTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCGCACCCGGCTAAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01167.hp2 HG01934.hp2 others(19): Show HG00621.hp1 HG01167.hp2 HG01934.hp2 HG02818.hp1 HG02970.hp1 NA18522.hp2 NA18612.hp2 NA18946.hp2 NA18949.hp2 NA18956.hp1 NA18985.hp1 NA18989.hp1 NA18993.hp1 NA19007.hp1 NA19057.hp2 NA19058.hp2 NA19067.hp1 NA19079.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0047 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0003g0009	22	458	0.0480	-180	c.37+ others(15): Show c.37+3404_37+3583del		HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr5	TogoVar
HYCC1_chr7_22929211_23019130	22954811	AATTAAAT others(173): Show AATTAAATGCACTGTTATTAAAATAAACCATTTAACATCTGCCAGGACCA AAAGTAGGGAAACATTGAAAGTATCTTGTTTATAAACATTCCTTTTATTA TTGATACCTACTAGTTGCAAACAGTTATAACTGTACATAAATAAGAAACA TAAATTTTGTCTATGTAATTTCTATTTTTAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0265 a0001c0002t0011g0265	1	386	0.0026	-180	c.991 others(17): Show c.991+5265_991+5444del		HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding	10/10						chr7	TogoVar
IL19_chr1_206765773_206847981	206781841	GGTTATAT others(173): Show GGTTATATATACATATATATGTATATAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATAGTTATATATACATATATATGT ATATAGTTATATATACATATATATGTATATGTTATATATACATATATATG TATATGTTATATATACATATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02897.hp2 others(4): Show HG02895.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03486.hp1 HG03688.hp2 NA18941.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0065 a0001c0001t0002g0333 a0001c0001t0002g0335 others(4): Show a0001c0001t0001g0065 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0346 a0002c0002t0002g0313 a0002c0002t0004g0077 a0002c0002t0004g0097	7	366	0.0191	-180	c.-14 others(21): Show c.-149+10807_-149+10986del		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar

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