Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Examples: ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
AHNAK2_chr14_104932253_104983374	104950104	CCACGTCG others(488): Show CCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTG GGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTT CAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCT CGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACC TCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTC CCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACA CATCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGAT GGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGC CTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTG CTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02717.hp2 NA20129.hp2 HG02717.hp2 NA20129.hp2	a0074 a0075 a0074 a0075	a0074c0179 a0075c0164 a0074c0179 a0075c0164	a0074c0179t0003 a0075c0164t0001 a0074c0179t0003 a0075c0164t0001	a0074c0179t0003g0297 a0075c0164t0001g0301 a0074c0179t0003g0297 a0075c0164t0001g0301	2	356	0.0056	-495	c.485 others(9): Show c.4852_5346del	p.Lys others(15): Show p.Lys1618_Val1782del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5483/18335	4852/17388	1618/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950411	CGAGGCCT others(488): Show CGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGCATCT TGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCG GCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGG GGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGG CTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACA TCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCAT CTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGC CCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCA GAAGGGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGA GGGGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18943.hp2 NA19055.hp1 NA18943.hp2 NA19055.hp1	a0043 a0043	a0043c0040 a0043c0040	a0043c0040t0001 a0043c0040t0001	a0043c0040t0001g0172 a0043c0040t0001g0191 a0043c0040t0001g0172 a0043c0040t0001g0191	2	356	0.0056	-495	c.454 others(9): Show c.4545_5039del	p.Val others(15): Show p.Val1516_Ser1680del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5176/18335	4545/17388	1515/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950872	CGTCGGCC others(488): Show CGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGAC TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT GAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCT CCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACC TCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTT GGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCT TGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGG TGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCAC GTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGC TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03453.hp2 HG03453.hp2	a0163 a0163	a0163c0098 a0163c0098	a0163c0098t0001 a0163c0098t0001	a0163c0098t0001g0122 a0163c0098t0001g0122	1	356	0.0028	-495	c.408 others(9): Show c.4084_4578del	p.Met others(15): Show p.Met1362_Asp1526del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4715/18335	4084/17388	1362/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950915	GATGGACT others(488): Show GATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGG GCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGAC ATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGAC ATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTT CCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCA GGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTT GGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGA GTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGC TGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCT CATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03225.hp2 HG03225.hp2	a0169 a0169	a0169c0237 a0169c0237	a0169c0237t0003 a0169c0237t0003	a0169c0237t0003g0139 a0169c0237t0003g0139	1	356	0.0028	-495	c.404 others(9): Show c.4041_4535del	p.Glu others(15): Show p.Glu1348_Ile1512del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4672/18335	4041/17388	1347/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951125	GTCTTTTA others(488): Show GTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGA GGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGC CCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTC CAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGA GGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCC TCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGG GGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGC TGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGC TGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACT GGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTTATGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00609.hp1 HG02056.hp1 HG03130.hp1 others(3): Show HG00609.hp1 HG02056.hp1 HG03130.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2	a0020 a0064 a0066 others(1): Show a0020 a0064 a0066 a0086	a0020c0018 a0064c0165 a0066c0202 others(1): Show a0020c0018 a0064c0165 a0066c0202 a0086c0188	a0020c0018t0002 a0064c0165t0001 a0066c0202t0005 others(1): Show a0020c0018t0002 a0064c0165t0001 a0066c0202t0005 a0086c0188t0002	a0020c0018t0002g0009 a0064c0165t0001g0247 a0066c0202t0005g0203 others(1): Show a0020c0018t0002g0009 a0064c0165t0001g0247 a0066c0202t0005g0203 a0086c0188t0002g0182	6	356	0.0169	-495	c.383 others(9): Show c.3831_4325del	p.His others(15): Show p.His1278_Asp1442del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4462/18335	3831/17388	1277/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951155	GTCTATTT others(488): Show GTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCA TCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGG CCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGT GGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGG AGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAG GCCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAA CTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCA GGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCC TGCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGT CACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp1 HG02630.hp1	a0068 a0068	a0068c0169 a0068c0169	a0068c0169t0002 a0068c0169t0002	a0068c0169t0002g0071 a0068c0169t0002g0071	1	356	0.0028	-495	c.380 others(9): Show c.3801_4295del	p.Glu others(15): Show p.Glu1267_Ile1431del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4432/18335	3801/17388	1267/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951806	GGGCTGAA others(488): Show GGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGA GACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCG ATGGACTTGCCTGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGG CATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACA GTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACG TCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTC CGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGG GGCCCTTGAGGGCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTG GGCAAGTGCCCTTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAG CTTCACATCCACCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02922.hp2 HG02922.hp2	a0197 a0197	a0197c0057 a0197c0057	a0197c0057t0001 a0197c0057t0001	a0197c0057t0001g0068 a0197c0057t0001g0068	1	356	0.0028	-495	c.315 others(9): Show c.3150_3644del	p.Ala others(15): Show p.Ala1051_Pro1215del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3781/18335	3150/17388	1050/5795			chr14	TogoVar
ASAP1_chr8_130047104_130448674	130049774	GGGGAACA others(488): Show GGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGA ACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGG GGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAG GGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACA TGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGC AGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAA CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGG GGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACGGGGGGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0049 a0001c0001t0014g0049	1	308	0.0033	-495	c.44 others(11): Show c.4462_*4956del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2329		chr8	TogoVar
ASMT_chrX_1610059_1648081	1639377	CTGTGTGT others(488): Show CTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGAC AGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTG ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	223	0.0045	-495	c.910 others(17): Show c.910+2827_911-2922del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639488	GTCCTGTG others(488): Show GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	223	0.0045	-495	c.910 others(17): Show c.910+2943_911-2806del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639517	ACATGAGG others(488): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	223	0.0045	-495	c.910 others(17): Show c.910+3028_911-2721del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640587	ACATGAGG others(488): Show ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03195.hp2 HG01517.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0158 a0002c0002t0002g0191 a0001c0001t0001g0158 a0002c0002t0002g0191	2	223	0.0090	-495	c.911 others(17): Show c.911-2147_911-1653del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640878	GTGTCCCA others(488): Show GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG ATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01978.hp2 HG02273.hp2 others(7): Show HG01934.hp1 HG01978.hp2 HG02273.hp2 NA18941.hp2 NA18950.hp2 NA18977.hp2 NA18985.hp1 NA19003.hp1 NA19011.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 others(1): Show a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002	a0001c0003t0001g0080 a0001c0003t0001g0115 a0001c0003t0001g0193 others(7): Show a0001c0003t0001g0080 a0001c0003t0001g0115 a0001c0003t0001g0193 a0001c0003t0001g0219 a0001c0003t0002g0155 a0001c0003t0002g0177 a0001c0003t0002g0182 a0002c0002t0001g0026 a0002c0002t0001g0073 a0002c0002t0002g0178	10	223	0.0448	-495	c.911 others(17): Show c.911-1905_911-1411del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP46_chr10_132803392_132947570	132914022	CCCCCGCC others(488): Show CCCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTC CAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	246	0.0041	-495	c.212 others(18): Show c.2121-1259_2121-765del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914028	CCCCGAGG others(488): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCC GAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0095 a0007c0008t0002g0095	1	246	0.0041	-495	c.212 others(18): Show c.2121-1265_2121-771del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914094	GCCCGAGG others(488): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01106.hp1 others(3): Show HG00140.hp2 HG00408.hp2 HG01106.hp1 HG02602.hp2 HG03704.hp2 HG04204.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0033 a0061	a0001c0001 a0001c0032 a0002c0002 others(3): Show a0001c0001 a0001c0032 a0002c0002 a0004c0005 a0033c0048 a0061c0092	a0001c0001t0002 a0001c0032t0002 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0032t0002 a0002c0002t0001 a0004c0005t0001 a0033c0048t0001 a0061c0092t0001	a0001c0001t0002g0049 a0001c0032t0002g0038 a0002c0002t0001g0194 others(3): Show a0001c0001t0002g0049 a0001c0032t0002g0038 a0002c0002t0001g0194 a0004c0005t0001g0223 a0033c0048t0001g0224 a0061c0092t0001g0125	6	246	0.0244	-495	c.212 others(18): Show c.2121-1331_2121-837del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914127	CCCCGAGG others(488): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCC CGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01256.hp1 HG03710.hp2 others(1): Show HG00408.hp1 HG01256.hp1 HG03710.hp2 NA18945.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0015c0015 a0001c0001 a0002c0002 a0015c0015	a0001c0001t0002 a0002c0002t0001 a0015c0015t0002 a0001c0001t0002 a0002c0002t0001 a0015c0015t0002	a0001c0001t0002g0037 a0001c0001t0002g0071 a0002c0002t0001g0184 others(1): Show a0001c0001t0002g0037 a0001c0001t0002g0071 a0002c0002t0001g0184 a0015c0015t0002g0063	4	246	0.0163	-495	c.212 others(18): Show c.2121-1364_2121-870del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CROCC2_chr2_240901336_240998311	240978700	GCTCATCC others(488): Show GCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGATCCCAGGCTCATCCCT GCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGA GCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTC AGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp1 HG03041.hp2 others(1): Show HG02886.hp2 HG02965.hp1 HG03041.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0003 a0001c0001t0004g0303 a0001c0001t0004g0319 a0001c0001t0003g0003 a0001c0001t0004g0303 a0001c0001t0004g0319	4	350	0.0114	-495	c.440 others(19): Show c.4402-4165_4402-3671del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979549	GCCCAGGC others(488): Show GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGGGGTAGGAGCCT CAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGA TCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(84): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(18): Show a0002 a0003 a0006 a0010 a0011 a0012 a0015 a0016 a0019 a0021 a0022 a0030 a0033 a0041 a0043 a0046 a0048 a0052 a0053 a0057 a0062	a0002c0002 a0002c0011 a0002c0012 others(24): Show a0002c0002 a0002c0011 a0002c0012 a0002c0033 a0002c0068 a0003c0003 a0006c0007 a0006c0046 a0010c0009 a0011c0045 a0012c0013 a0015c0016 a0016c0061 a0016c0092 a0019c0015 a0021c0019 a0022c0042 a0030c0053 a0033c0081 a0041c0058 a0043c0059 a0046c0069 a0048c0066 a0052c0072 a0053c0037 a0057c0031 a0062c0095	a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 others(29): Show a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0012t0002 a0002c0033t0002 a0002c0068t0001 a0003c0003t0001 a0003c0003t0002 a0006c0007t0001 a0006c0007t0003 a0006c0046t0001 a0010c0009t0001 a0010c0009t0002 a0010c0009t0005 a0011c0045t0002 a0012c0013t0001 a0015c0016t0002 a0016c0061t0002 a0016c0092t0001 a0019c0015t0001 a0021c0019t0001 a0022c0042t0002 a0030c0053t0001 a0033c0081t0001 a0041c0058t0002 a0043c0059t0002 a0046c0069t0001 a0048c0066t0002 a0052c0072t0002 a0053c0037t0001 a0057c0031t0001 a0062c0095t0002	a0002c0002t0001g0083 a0002c0002t0001g0120 a0002c0002t0001g0131 others(83): Show a0002c0002t0001g0083 a0002c0002t0001g0120 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0176 a0002c0002t0001g0182 a0002c0002t0001g0186 a0002c0002t0002g0235 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0268 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0011t0002g0297 a0002c0011t0002g0334 a0002c0012t0002g0250 a0002c0033t0002g0291 a0002c0068t0001g0078 a0003c0003t0001g0015 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0035 a0003c0003t0001g0037 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0045 a0003c0003t0001g0158 a0003c0003t0002g0237 a0003c0003t0002g0255 a0003c0003t0002g0258 a0003c0003t0002g0265 a0003c0003t0002g0272 a0003c0003t0002g0289 a0006c0007t0001g0195 a0006c0007t0001g0199 a0006c0007t0001g0212 a0006c0007t0001g0215 a0006c0007t0001g0216 a0006c0007t0001g0217 a0006c0007t0001g0221 a0006c0007t0001g0224 a0006c0007t0001g0233 a0006c0007t0003g0209 a0006c0046t0001g0228 a0010c0009t0001g0076 a0010c0009t0001g0087 a0010c0009t0001g0089 a0010c0009t0001g0091 a0010c0009t0001g0092 a0010c0009t0001g0213 a0010c0009t0002g0005 a0010c0009t0005g0001 a0011c0045t0002g0320 a0012c0013t0001g0106 a0012c0013t0001g0124 a0015c0016t0002g0246 a0016c0061t0002g0307 a0016c0092t0001g0113 a0019c0015t0001g0014 a0019c0015t0001g0028 a0019c0015t0001g0108 a0021c0019t0001g0227 a0022c0042t0002g0282 a0030c0053t0001g0071 a0033c0081t0001g0048 a0041c0058t0002g0309 a0043c0059t0002g0295 a0046c0069t0001g0187 a0048c0066t0002g0269 a0052c0072t0002g0239 a0053c0037t0001g0205 a0057c0031t0001g0107 a0062c0095t0002g0298	87	350	0.2486	-495	c.440 others(19): Show c.4402-3310_4402-2816del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980670	AGGATCCC others(488): Show AGGATCCCAGGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCA TCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCA AGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTC TGGGGTAGGAGCCTCAGGATCCCAGACTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGTCAGGA GCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTC AGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00609.hp1 others(34): Show HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01175.hp2 HG01192.hp2 HG01952.hp1 HG02004.hp2 HG02129.hp1 HG02300.hp2 HG02735.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp2 NA18965.hp1 NA18971.hp2 NA18984.hp1 NA18986.hp2 NA18998.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19087.hp1	a0001 a0005 a0007 others(5): Show a0001 a0005 a0007 a0009 a0011 a0022 a0029 a0040	a0001c0001 a0001c0022 a0001c0067 others(8): Show a0001c0001 a0001c0022 a0001c0067 a0005c0005 a0007c0006 a0009c0010 a0011c0044 a0011c0080 a0022c0038 a0029c0049 a0040c0057	a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 a0001c0067t0002 a0005c0005t0001 a0005c0005t0002 a0007c0006t0001 a0007c0006t0009 a0009c0010t0001 a0011c0044t0002 a0011c0080t0001 a0022c0038t0001 a0029c0049t0001 a0040c0057t0002	a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0084 others(34): Show a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0277 a0001c0001t0002g0288 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0022t0002g0322 a0001c0067t0002g0287 a0005c0005t0001g0016 a0005c0005t0001g0075 a0005c0005t0001g0138 a0005c0005t0002g0321 a0007c0006t0001g0013 a0007c0006t0001g0085 a0007c0006t0001g0086 a0007c0006t0001g0088 a0007c0006t0001g0099 a0007c0006t0009g0102 a0009c0010t0001g0115 a0009c0010t0001g0200 a0011c0044t0002g0317 a0011c0080t0001g0142 a0022c0038t0001g0050 a0029c0049t0001g0198 a0040c0057t0002g0335	37	350	0.1057	-495	c.440 others(19): Show c.4402-2206_4402-1712del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CUX1_chr7_101811007_102288958	102083713	ACTATTTA others(488): Show ACTATTTATTCTTCCATAATATATTTATTTAGTTCATCTTTAATTTCTCT GAGCAGTATTTTACAGTTTTGATGTATAAACCTGGCACAGATTATGTTCA GTTTATTTCTAAGTTTAAGTCATGTTTTTGAATGTTATATTAAAGGATAT TTTCTTTTTTAAAAAATCTACAATGTTTATTTTATTATTATTATTTTTAA TCTCGCTTCATCACCAAGGCTGGAGTAAAGTGACGCGATCTCAGCTCAGT GCAACCACCGCCTCCCAGATTCAAGCAATTCTCCTGTCTCAGCCTCCCAA ATAGCTGGGACTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATT TTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCC TGACTTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACA GGTGCGAGATTAAAGTTTATTTTCTTTTGAAATTTGTTTTCCAATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01099.hp2 others(3): Show HG00544.hp1 HG00639.hp2 HG01099.hp2 HG01192.hp1 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0002	a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0002t0001g0034 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0002t0001g0034 a0002c0003t0002g0010 a0002c0004t0001g0113 a0002c0005t0002g0061	6	132	0.0455	-495	c.301 others(19): Show c.301+13297_302-13156del		CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	4/22						chr7	TogoVar
CUX1_chr7_101812626_102263233	102083713	ACTATTTA others(488): Show ACTATTTATTCTTCCATAATATATTTATTTAGTTCATCTTTAATTTCTCT GAGCAGTATTTTACAGTTTTGATGTATAAACCTGGCACAGATTATGTTCA GTTTATTTCTAAGTTTAAGTCATGTTTTTGAATGTTATATTAAAGGATAT TTTCTTTTTTAAAAAATCTACAATGTTTATTTTATTATTATTATTTTTAA TCTCGCTTCATCACCAAGGCTGGAGTAAAGTGACGCGATCTCAGCTCAGT GCAACCACCGCCTCCCAGATTCAAGCAATTCTCCTGTCTCAGCCTCCCAA ATAGCTGGGACTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATT TTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCC TGACTTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACA GGTGCGAGATTAAAGTTTATTTTCTTTTGAAATTTGTTTTCCAATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01099.hp2 others(3): Show HG00544.hp1 HG00639.hp2 HG01099.hp2 HG01192.hp2 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0010	a0001c0001t0022 a0001c0001t0056 a0001c0002t0001 others(3): Show a0001c0001t0022 a0001c0001t0056 a0001c0002t0001 a0001c0004t0007 a0001c0004t0055 a0005c0010t0038	a0001c0001t0022g0099 a0001c0001t0056g0113 a0001c0002t0001g0100 others(3): Show a0001c0001t0022g0099 a0001c0001t0056g0113 a0001c0002t0001g0100 a0001c0004t0007g0069 a0001c0004t0055g0087 a0005c0010t0038g0016	6	136	0.0441	-495	c.268 others(19): Show c.268+13297_269-13156del		CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	4/23						chr7	TogoVar
DBNDD1_chr16_89999871_90024456	90003450	TTCCCTCC others(488): Show TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TATGACTCCCTCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGG ACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGG GTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCAC GTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGC CACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCC CGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02451.hp1 HG03239.hp2 others(3): Show HG01255.hp2 HG02451.hp1 HG03239.hp2 NA18948.hp1 NA19009.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0088 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0088 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0168	6	412	0.0146	-495	c.23 others(11): Show c.2390_*2884del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1420		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003470	TACCTTTA others(488): Show TACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCC CGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG02257.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0054	4	412	0.0097	-495	c.23 others(11): Show c.2370_*2864del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1400		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003525	TACCTTTA others(488): Show TACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCC CGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCC TGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	412	0.0024	-495	c.23 others(11): Show c.2315_*2809del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1345		chr16	TogoVar
DLGAP2_chr8_732628_1713476	1643575	CCCTCCAA others(488): Show CCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCC TCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCCA ACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTG TGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCC GGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACC CTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTC ACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGACC CCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTG TCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGG CCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	-495	c.181 others(21): Show c.1810+10532_1810+11026del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
F11R_chr1_160990211_161026152	161009708	CTATAATC others(488): Show CTATAATCCCAGCACTTTGGGAGGCCGATGTGGGTGGATTGCTTGAGGTC AGAAGTTTAAGACCAGCCGGGCCAACATGATAAAAATTACAAAAATTAGC CAGGCATGGTGCATACCTGTAGTCCCAGCTACTTGGGAGGCTGGAGAACC ACTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGATATGGTGCCACTGT ACTTAGTCTGGATGACAGAGCAAGACTCTGTCTCAAAAAAAAAGTTTCCT CCCCATGAATCTGGGAGGGTCTTATGATTGACAATGGCATAATGGTAGAA GTGGCATATTATTAATGTTAGGCCTTATATGCATTTTCTCACTAAACTCT TAAAAAAAAAAAAAACCTATGAGACAAGTACCATTGAAGATTGAAGTACT ACCGTTACCATTTCATTTTACAGATGAAAAAACTGAGGCTTAGAACAGTT GACCCAGGCCAGGCATAGTGGCTCACACGTGTAATCCCAGAACTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18612.hp1 HG02071.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0052 a0001c0001t0010g0072 a0001c0001t0010g0052 a0001c0001t0010g0072	2	392	0.0051	-495	c.65- others(15): Show c.65-8850_65-8356del		F11R	ENSG00000158769.19	transcript	ENST00000368026.11	protein_coding	1/9						chr1	TogoVar
FLT4_chr5_180596506_180654600	180635482	GTGGGTGG others(488): Show GTGGGTGGTGGGATGGAAGTGTGGGTGGATGGGAGGGTGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGTATGGATGGATGGATGGATGGATGGGTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGTGGG TGGATGGATGGATGCATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTG GGTGGATGGATGCATGGATGGAAGTATGGGTGGATGGGTGGGTGGATGGA TGGATGGGAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGATG GACGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGATGAA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0031 a0002c0004t0031	a0002c0004t0031g0279 a0002c0004t0031g0279	1	388	0.0026	-495	c.59- others(15): Show c.59-4199_59-3705del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
MAD1L1_chr7_1810795_2237945	2035603	CGGGACAG others(488): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTGGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGG CATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTC CCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCA GGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGG GTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAG CTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG01074.hp2 others(46): Show HG00438.hp2 HG00558.hp2 HG01074.hp2 HG01081.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04228.hp1 HG06807.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18963.hp1 NA18969.hp2 NA18985.hp2 NA18990.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0006t0001 a0001c0007t0004 a0004c0008t0001	a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0145 others(46): Show a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0166 a0001c0001t0005g0137 a0001c0001t0005g0222 a0001c0003t0001g0015 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0074 a0001c0003t0001g0088 a0001c0006t0001g0158 a0001c0006t0001g0218 a0001c0006t0001g0237 a0001c0007t0004g0078 a0004c0008t0001g0194	49	264	0.1856	-495	c.121 others(21): Show c.1219-21456_1219-20962del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18						chr7	TogoVar
PDZD2_chr5_31634131_32115932	32085198	TGCCTTGG others(488): Show TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGATCCACCGTGCCC AGCTGCCTTTTTTTTTTTTTAATTGACACATAATTGTACATACTTATGGA GCACAAAGTGGTACTTCAGTACATATATACATTGTGCAATGATTAAATCA GGGTAATTAGCATATCCATCACATCAAATGTATCATGTCTTTGTGGTAGG AACATCCCAAATTCTCTCTTCTAGCTATTTCAATAAATGCAATACCTTAT TATTATTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTACTCAGGCTGGA ATACAATGGCATGATCTTGGCTCACTGCAACTCCACCTCCCAGGTTCAAG CGATTCTCCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCGTGTGCC ACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGAATTTCACCA TGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCACCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02647.hp1 others(5): Show HG01891.hp1 HG01891.hp2 HG02647.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03486.hp1 NA19240.hp2	a0007 a0008 a0011 others(3): Show a0007 a0008 a0011 a0018 a0031 a0036	a0007c0013 a0008c0014 a0011c0065 others(3): Show a0007c0013 a0008c0014 a0011c0065 a0018c0047 a0031c0030 a0036c0060	a0007c0013t0001 a0007c0013t0004 a0008c0014t0001 others(5): Show a0007c0013t0001 a0007c0013t0004 a0008c0014t0001 a0008c0014t0004 a0011c0065t0004 a0018c0047t0001 a0031c0030t0033 a0036c0060t0014	a0007c0013t0001g0200 a0007c0013t0004g0198 a0008c0014t0001g0159 others(5): Show a0007c0013t0001g0200 a0007c0013t0004g0198 a0008c0014t0001g0159 a0008c0014t0004g0178 a0011c0065t0004g0168 a0018c0047t0001g0189 a0031c0030t0033g0064 a0036c0060t0014g0204	8	216	0.0370	-495	c.368 others(19): Show c.3683-1895_3683-1401del		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	19/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLIN4_chr19_4497192_4523486	4512587	GTGGTGTC others(488): Show GTGGTGTCCACGCCTGTCTGGATGGTTCCTCTGGCCAAATTCATGGCACC AGTCACCCCACTGCAGACGGTGTCCTTTGTACCTGTTGCGATATTTTGGG TTGTGTTCAGCCCAGTTTGCATGGCCCCCTTGGCCACATTCGCTGCCCCT GTGAGCCCAGTGGACATCGTGTCTTTCGTACCCATGACCATAGACTTGGT GGTATCCAGGCCCCCCTGGATGGCCTCTTTGGCCAAGTTCACGGCACCGG TCACCCCACTGCAGACAGTGTTCTTGGTGCCAGTTAGGACAGTCTTGGTG GTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGT CACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTACTGG TGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTC ACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp1 HG01070.hp2 HG01071.hp2 others(33): Show HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01175.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG04204.hp2 NA19043.hp1 NA20752.hp2 NA21309.hp2	a0007 a0010 a0025 others(16): Show a0007 a0010 a0025 a0026 a0043 a0054 a0101 a0102 a0103 a0104 a0106 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114	a0007c0010 a0007c0057 a0007c0059 others(21): Show a0007c0010 a0007c0057 a0007c0059 a0007c0070 a0010c0009 a0025c0028 a0025c0073 a0026c0018 a0043c0063 a0043c0064 a0054c0145 a0101c0072 a0102c0074 a0103c0071 a0104c0055 a0106c0068 a0107c0067 a0108c0065 a0109c0060 a0110c0062 a0111c0061 a0112c0058 a0113c0066 a0114c0056	a0007c0010t0004 a0007c0057t0004 a0007c0059t0004 others(23): Show a0007c0010t0004 a0007c0057t0004 a0007c0059t0004 a0007c0070t0004 a0010c0009t0001 a0010c0009t0007 a0010c0009t0014 a0025c0028t0004 a0025c0073t0008 a0026c0018t0008 a0043c0063t0024 a0043c0064t0011 a0054c0145t0007 a0101c0072t0002 a0102c0074t0002 a0103c0071t0004 a0104c0055t0008 a0106c0068t0001 a0107c0067t0004 a0108c0065t0007 a0109c0060t0004 a0110c0062t0033 a0111c0061t0035 a0112c0058t0004 a0113c0066t0027 a0114c0056t0004	a0007c0010t0004g0005 a0007c0010t0004g0062 a0007c0057t0004g0060 others(27): Show a0007c0010t0004g0005 a0007c0010t0004g0062 a0007c0057t0004g0060 a0007c0059t0004g0056 a0007c0070t0004g0064 a0010c0009t0001g0085 a0010c0009t0007g0088 a0010c0009t0007g0089 a0010c0009t0007g0090 a0010c0009t0014g0086 a0010c0009t0014g0087 a0025c0028t0004g0027 a0025c0073t0008g0058 a0026c0018t0008g0012 a0043c0063t0024g0080 a0043c0064t0011g0063 a0054c0145t0007g0092 a0101c0072t0002g0065 a0102c0074t0002g0095 a0103c0071t0004g0077 a0104c0055t0008g0059 a0106c0068t0001g0084 a0107c0067t0004g0083 a0108c0065t0007g0081 a0109c0060t0004g0057 a0110c0062t0033g0301 a0111c0061t0035g0079 a0112c0058t0004g0061 a0113c0066t0027g0082 a0114c0056t0004g0078	36	412	0.0874	-495	c.878 others(8): Show c.878_1372del	p.Ser others(13): Show p.Ser293_Thr457del	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1491/6502	878/4116	293/1371			chr19	TogoVar
PPP2R3B_chrX_328933_391907	366097	AGAGGCTG others(488): Show AGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCAGAGGTTGCAGT GAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC TGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGT ACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGA GGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGC GACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTG GTGGAGGGTGCCTGTACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAAT CGCTTCAACACAGGAGGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTG CACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAAC GATTAACCAGGTGTGGTGGAGGGTGCCTGTACTCCCAGCTACTCGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02015.hp1 NA19088.hp1 HG01934.hp1 HG02015.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0012 a0002c0004t0002 a0002c0002t0002 a0002c0002t0012 a0002c0004t0002	a0002c0002t0002g0014 a0002c0002t0012g0008 a0002c0004t0002g0005 a0002c0002t0002g0014 a0002c0002t0012g0008 a0002c0004t0002g0005	3	25	0.1200	-495	c.325 others(17): Show c.325-5002_325-4508del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	366162	TACTGCAC others(488): Show TACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAA CAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTACTCCCAGCTACTCG AGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGGTGCAGT GAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC TGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGAGGGTGCCTGT ACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGA GGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGC GACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTG GTGGAGGGTGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT CGCTTCAACACAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0010 a0004c0012t0010	a0004c0012t0010g0024 a0004c0012t0010g0024	1	25	0.0400	-495	c.325 others(17): Show c.325-5067_325-4573del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	366300	GGAGGGTG others(488): Show GGAGGGTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGAC AGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTG GAGGGTGCCTGTACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGC TTCAACACAGGAGGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTGCAC TCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGAT TAACCAGGTGTGGTGGAGGGTGCCTGTACTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATCGCTTCAACACAGGAGGCAGAGGTTGCAGTGAGCTGAG ATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAA AACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAG CTACTTGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	25	0.0400	-495	c.325 others(17): Show c.325-5205_325-4711del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	366305	GTGCAGTG others(488): Show GTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGT GAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGAGGG TGCCTGTACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTCAA CACAGGAGGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTGCACTCCAG CCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACC AGGTGTGGTGGAGGGTGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATCGCTTCAACACAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGC ACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAA AACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACT TGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCAGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	25	0.0400	-495	c.325 others(17): Show c.325-5210_325-4716del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PRKCA_chr17_66297613_66815743	66799052	ATGGTGGT others(488): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGACGG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18950.hp2 HG02698.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0056 a0001c0001t0005 a0001c0001t0056	a0001c0001t0005g0001 a0001c0001t0056g0062 a0001c0001t0005g0001 a0001c0001t0056g0062	2	178	0.0112	-495	c.185 others(19): Show c.1855-4800_1855-4306del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799088	GTGGTGGT others(488): Show GTGGTGGTGGTGGTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTG GTAGTGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp1 NA18942.hp2 HG02622.hp2 HG03195.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0024 a0001c0001t0093 a0001c0001t0016 a0001c0001t0024 a0001c0001t0093	a0001c0001t0016g0098 a0001c0001t0024g0120 a0001c0001t0093g0139 a0001c0001t0016g0098 a0001c0001t0024g0120 a0001c0001t0093g0139	3	178	0.0169	-495	c.185 others(19): Show c.1855-4770_1855-4276del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000382	ATGGGGCT others(488): Show ATGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCG GAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAG TGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGG AGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGT GGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGA GAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTG AGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAG AAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGG GGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGA AGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0158 a0001c0001t0034g0158	1	218	0.0046	-495	c.120 others(19): Show c.1200+2064_1200+2558del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000440	GCAGAAGA others(488): Show GCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTC GTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGG CAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCG TGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGAC AGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGT GGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACA GAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTG GAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAG AAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGG AGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02683.hp1 HG01978.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0090 a0001c0024t0051 a0001c0002t0090 a0001c0024t0051	a0001c0002t0090g0168 a0001c0024t0051g0052 a0001c0002t0090g0168 a0001c0024t0051g0052	2	218	0.0092	-495	c.120 others(19): Show c.1200+2108_1200+2602del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000484	GGGCTCGT others(488): Show GGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAG AAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGG GGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGA AGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAG GCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAA GGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGG CTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAG GGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGC TCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGG GACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02896.hp1 HG03130.hp1 others(2): Show HG02735.hp2 HG02896.hp1 HG03130.hp1 HG03471.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0013 a0001c0002t0044 a0001c0002t0054 others(2): Show a0001c0002t0013 a0001c0002t0044 a0001c0002t0054 a0001c0002t0138 a0001c0007t0040	a0001c0002t0013g0125 a0001c0002t0044g0185 a0001c0002t0054g0055 others(2): Show a0001c0002t0013g0125 a0001c0002t0044g0185 a0001c0002t0054g0055 a0001c0002t0138g0044 a0001c0007t0040g0015	5	218	0.0229	-495	c.120 others(19): Show c.1200+2127_1200+2621del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000503	AATCAGCC others(488): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18950.hp1 NA18983.hp2 others(3): Show HG02040.hp1 NA18950.hp1 NA18983.hp2 NA18999.hp1 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0009 others(1): Show a0001c0002 a0001c0005 a0001c0009 a0001c0013	a0001c0002t0001 a0001c0002t0133 a0001c0005t0023 others(3): Show a0001c0002t0001 a0001c0002t0133 a0001c0005t0023 a0001c0009t0035 a0001c0013t0005 a0001c0013t0118	a0001c0002t0001g0046 a0001c0002t0133g0109 a0001c0005t0023g0111 others(3): Show a0001c0002t0001g0046 a0001c0002t0133g0109 a0001c0005t0023g0111 a0001c0009t0035g0165 a0001c0013t0005g0036 a0001c0013t0118g0027	6	218	0.0275	-495	c.120 others(19): Show c.1200+2163_1200+2657del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000638	ACAGAAGA others(488): Show ACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTG GTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGA CAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCG TGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGC AGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGT GGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACA GAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTG GAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAG AAGAAGCAGGGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGG AGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG02148.hp2 others(6): Show HG00609.hp1 HG02056.hp1 HG02148.hp2 HG02622.hp1 HG03927.hp2 NA18944.hp1 NA18945.hp1 NA18975.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0010 others(1): Show a0001c0001 a0001c0005 a0001c0010 a0002c0015	a0001c0001t0001 a0001c0001t0036 a0001c0001t0066 others(6): Show a0001c0001t0001 a0001c0001t0036 a0001c0001t0066 a0001c0001t0080 a0001c0001t0096 a0001c0001t0122 a0001c0005t0120 a0001c0010t0057 a0002c0015t0032	a0001c0001t0001g0134 a0001c0001t0036g0164 a0001c0001t0066g0038 others(6): Show a0001c0001t0001g0134 a0001c0001t0036g0164 a0001c0001t0066g0038 a0001c0001t0080g0048 a0001c0001t0096g0049 a0001c0001t0122g0207 a0001c0005t0120g0147 a0001c0010t0057g0090 a0002c0015t0032g0167	9	218	0.0413	-495	c.120 others(19): Show c.1200+2391_1200+2885del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000767	ACCAGGCT others(488): Show ACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCT TCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCA CCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTT CCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCAC CAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTATCAGCCTCAGGGCCTTC CTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCTCC AGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCC TGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCA GGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCT GATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG03492.hp1 others(2): Show HG01074.hp1 HG01099.hp1 HG03492.hp1 HG03579.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0007 others(2): Show a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0002c0008	a0001c0002t0104 a0001c0005t0034 a0001c0007t0091 others(2): Show a0001c0002t0104 a0001c0005t0034 a0001c0007t0091 a0001c0009t0101 a0002c0008t0014	a0001c0002t0104g0080 a0001c0005t0034g0198 a0001c0007t0091g0115 others(2): Show a0001c0002t0104g0080 a0001c0005t0034g0198 a0001c0007t0091g0115 a0001c0009t0101g0014 a0002c0008t0014g0053	5	218	0.0229	-495	c.120 others(19): Show c.1200+2405_1200+2899del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000800	AATCAGCC others(488): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp2 HG02622.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0023 a0002c0012 a0001c0023 a0002c0012	a0001c0023t0067 a0002c0012t0046 a0001c0023t0067 a0002c0012t0046	a0001c0023t0067g0009 a0002c0012t0046g0093 a0001c0023t0067g0009 a0002c0012t0046g0093	2	218	0.0092	-495	c.120 others(19): Show c.1200+2460_1200+2954del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000998	TATCAGCC others(488): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGG GAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGAATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02074.hp2 HG02698.hp1 others(4): Show HG02015.hp1 HG02074.hp2 HG02698.hp1 HG04204.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0008 a0004c0017	a0001c0001t0021 a0001c0001t0022 a0001c0002t0116 others(3): Show a0001c0001t0021 a0001c0001t0022 a0001c0002t0116 a0001c0005t0105 a0002c0008t0074 a0004c0017t0014	a0001c0001t0021g0178 a0001c0001t0022g0107 a0001c0001t0022g0180 others(4): Show a0001c0001t0021g0178 a0001c0001t0022g0107 a0001c0001t0022g0180 a0001c0002t0116g0214 a0001c0005t0105g0212 a0002c0008t0074g0033 a0004c0017t0014g0103	7	218	0.0321	-495	c.120 others(19): Show c.1200+2688_1200+3182del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001097	TATCAGCC others(488): Show TATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGAAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAGATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAAG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0124 a0001c0013t0124	a0001c0013t0124g0075 a0001c0013t0124g0075	1	218	0.0046	-495	c.120 others(19): Show c.1200+2757_1200+3251del		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNGTT_chr6_88604897_88968618	88844701	ACTATCTA others(488): Show ACTATCTAAACACACAAAGAGACTTATTTTAAAATACAACTGTATAAAAC AGTATGAGAAAGTGGCACAATTCTACTGTAAGTTGATCGAAATATTTCAC ATCTAGGCCGGGTGTGGTGGCTCACACCTGTAGTCCCAGCACTTTGGAAG GCTGAGGCAGGAGGATCACATGAGCCCAGGAGTTTGAGGCTAGCCTGGGC AACAGAGCAAGACCACCACTTCCAAATTTTAAAAAATAAAAAATAAAATA AACAATTTCACATCTGAATTAAAGTATTAATATACTTACTATTTATAGGT ACAGAATCATTTTAAAATAGAAAAAATATATACTCACTAGTCTTTTTTAA TTATTTATATAAATTAGTTGAAACCCTTTAACAGTACCCTATTACAGTAT AAAAACTAAAATCCACAGAATTCAGAAAAGTACAAGCGAGTAACACACCA AAATAGGTCGCACAGTTACCTACAATGTTTTTTGTTGTTTAAAGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp2 HG01175.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0125 a0001c0001t0004g0126	2	220	0.0091	-495	c.110 others(17): Show c.1105-675_1105-181del		RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	10/15						chr6	TogoVar
RPH3AL_chr17_207389_357807	220680	ACAGCTCT others(488): Show ACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACATCAGC TCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACATCAGCTCTGA GGCCTCCACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCT CCACTCACTGAGACAATAGACCCAAGCACAACAGCTCGGAGACCTCCACT CGGTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCTCCACTCACTG AGACAATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACA ATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACAATAGA CCCAAGCACAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAA GCACATCAGCTCTGAGGCCTCCACTTGGTGAGACAATAGACCCAAGCACA ACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01515.hp1 others(1): Show HG00140.hp2 HG01070.hp2 HG01515.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0016 a0001c0001t0020 a0001c0002t0009 others(1): Show a0001c0001t0016 a0001c0001t0020 a0001c0002t0009 a0001c0003t0018	a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0002t0009g0126 others(1): Show a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0002t0009g0126 a0001c0003t0018g0019	4	133	0.0301	-495	c.614 others(16): Show c.614-1439_614-945del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	221430	ATAGACCC others(488): Show ATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACAATAGA CCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAA GCACAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACA TCAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACAACAGC TCTGAGGGCTCCACTCACTGAGACAATAGACCCAAGTGCATCAGCTCTGA GGGCTCCACTCACTGAGACAATAGACCCAAGCACATCAGCTCTGAGGCCT CCACTCACTGAGACAATAGACCCAAGAACAACAGCTCTGAGGCCTCCACT CACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGGCTCCACTCACTG AGACAACAGACCCAAGAACAACAGCTCTGAGGCCTCCACTCACTGAGACA ATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03540.hp2 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0132 a0001c0001t0010g0015 a0001c0001t0005g0132 a0001c0001t0010g0015	2	133	0.0150	-495	c.614 others(17): Show c.614-2189_614-1695del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739874	AGCCGGAC others(488): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18995.hp2 NA18940.hp2 NA18995.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0114 a0003c0003t0001g0007 a0003c0003t0001g0114	2	445	0.0045	-495	c.-30 others(11): Show c.-3038_-2544del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					2996		chr17	TogoVar

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