Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TMPRSS15_chr21_18264116_18408785	18315639	CACATGTA others(347): Show CACATGTACCGTAGAACTTAAAGTATAATAAAATATATATATATAAAATA ATAAACATGAGTCCTTTGCCACAGCTCAAGGTGGAGCTAGCTTTGATACT GAGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTATA CACATGTAACAAACCTGCACGTTGTGCACGTGTACCCTAGAACTTAAAGT ATAATAAAATATATATATATATAAAATAATAAACATGAGTCCTTTGCCAC AGCTCAAGGTGGAGCTAGCTTTGATACTGAGCAAATGACGAGTTAATGGG TGCAGCACACCAGCATGGCACATGTATACACATGTAACAAACCTGCATGT TGTGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02970.hp2 HG03579.hp1 others(1): Show HG01361.hp1 HG02970.hp2 HG03579.hp1 NA21309.hp2	a0005 a0009 a0023 others(1): Show a0005 a0009 a0023 a0030	a0005c0004 a0009c0014 a0023c0068 others(1): Show a0005c0004 a0009c0014 a0023c0068 a0030c0055	a0005c0004t0001 a0009c0014t0001 a0023c0068t0002 others(1): Show a0005c0004t0001 a0009c0014t0001 a0023c0068t0002 a0030c0055t0007	a0005c0004t0001g0143 a0009c0014t0001g0198 a0023c0068t0002g0282 others(1): Show a0005c0004t0001g0143 a0009c0014t0001g0198 a0023c0068t0002g0282 a0030c0055t0007g0238	4	314	0.0127	-354	c.192 others(17): Show c.1922-737_1922-384del	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24			chr21	TogoVar
TRAPPC9_chr8_139722725_140462744	139748021	GGGGGGGC others(347): Show GGGGGGGCGTACAGGGGTCAGAGTGGGTGTGGGGGTGTCCCGGGGTCAGA GCAGGTGGGGAGGTGTGCAGGGATCAGAGAAGATGCAGGGGGTATACACA GCAGGTGTCACAGCAGGTTGGGGGGGCGTACAGGGGTCAGAGTGGGTGTG GGGGTGTCCCGGGGTCAGAGCAGGTGGGAGGTGTACAGGGATCAGAGAAG ATGCAGGGGGTATACACAGCAGGTGTCAGAGCAGGTAGGGGGGGCATACA GGGGTCAGAGTGGGTGTGAGGGTGTCCTGGGGTCAGAGCAGGTGGGAGGT GTGCAGGGATCAGAGAAGATGCAGGGGGTACACACAGCAGGAGTCAGAGC AGGTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0005 a0001c0002t0013g0005	1	98	0.0102	-354	c.305 others(21): Show c.3056-16173_3056-15820del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
ZFAT_chr8_134472788_134718031	134497813	CAGCTGGT others(347): Show CAGCTGGTTACACACAGAGCCTGATTTGGTAGGGTTGGGGTGGAGCCGGG ATGCCCCAGCTGCTGGTTACACACAGAGCCTGATTTGGTAGGGTTGGGGT GGAGCCGTGATGCCCCTGCTGCTGGTTACACACAGAGCCTGATTTGGTAG GGTTGGGGTGGAGCCAGGATGCCCCCGCTGCTGGTTACACACAGGGCCTG ATTTGGTAGGGTTGGGGTGGAGCCGTGATGCCCCTGCTGCTGGTTACACA CAGAGCCTGATTTGGGAGGGTTGTGGTGGAGCTGGGATGCCCCCGTTGCT GGTTACACACAGAGCCTGATTTGGTAGGGCTGGGGTGGAGCTGGGATGCC CCCGT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	274	0.0037	-354	c.349 others(21): Show c.3492+11452_3492+11805del	ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15			chr8	TogoVar
ZNF516_chr18_76352682_76500242	76394209	AGGGCAGG others(347): Show AGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0034 a0002c0009t0034	a0002c0009t0034g0111 a0002c0009t0034g0111	1	346	0.0029	-354	c.181 others(21): Show c.1811-14260_1811-13907del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCC2_chr10_99777640_99857594	99838468	GGGCAGAG others(346): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGAGCCCCCCA TCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCT GGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02300.hp2 NA20129.hp2 others(1): Show HG00140.hp2 HG02300.hp2 NA20129.hp2 NA21309.hp1	a0005 a0022 a0005 a0022	a0005c0008 a0022c0028 a0005c0008 a0022c0028	a0005c0008t0001 a0022c0028t0001 a0005c0008t0001 a0022c0028t0001	a0005c0008t0001g0011 a0005c0008t0001g0045 a0005c0008t0001g0075 others(1): Show a0005c0008t0001g0011 a0005c0008t0001g0045 a0005c0008t0001g0075 a0022c0028t0001g0280	4	336	0.0119	-353	c.361 others(19): Show c.3614+2181_3614+2533del	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049165	GGGGGCAG others(346): Show GGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGAACATATGGGGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGG CAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGA ACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGG GGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAG GAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACA TGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0117 a0002c0002t0003g0117	1	308	0.0033	-353	c.52 others(11): Show c.5213_*5565del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2938		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049267	TGGGGGGC others(346): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCA GAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAAC ACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGG GGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGA GAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATG GAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGAATACATGGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACA CATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	308	0.0033	-353	c.51 others(11): Show c.5111_*5463del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2836		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112803890	CCCCTCCT others(346): Show CCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCC TTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATT CCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTC CTTCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCC CCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTC TGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02056.hp2 HG02155.hp2 others(3): Show HG02015.hp2 HG02056.hp2 HG02155.hp2 HG02273.hp1 NA18612.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0012 a0001c0001t0001 a0001c0002t0002 a0001c0002t0012	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0231 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0231 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0012g0028	6	254	0.0236	-353	c.163 others(15): Show c.163-997_163-645del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CACNG7_chr19_53904278_53948950	53921956	GCCCCAGG others(346): Show GCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGG AGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATT GGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGCCTGGT CATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGT CTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCA GGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGT CCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTATTGGTGGAG TTGT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	364	0.0028	-353	c.424 others(17): Show c.424+6459_424+6811del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMK2B_chr7_44212154_44330594	44227422	GTGGGGGA others(346): Show GTGGGGGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGGGGACAGAA GGGGGTATGGGGGGCAGGGGGTGGAGGACAGAGGAGGGTGTGGGGGACAG AGGGGGATATGGGGGACAGAGGGAGTGTAGGGGACAGAGGAGGGTCTGGG GGGCAGAGGGAGAGTGTGGGGGACAGGGGGTGTGGGGGACAGAGGGAGTG TGGGGGACAGAGGAGGGTCTGGAGGACAGAGGGAGAGTGTAGGGAACAGA GGGGGTGTGGGGGACAGAAAAGGGCGTGAAGGGACCAAGGTGGGTGTGGG GGACAGAGGGGTATATGGGGGACAGAGGAGGGTGTGGGGGACAGAGGGAG AGTC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp1 HG02486.hp1 others(1): Show HG01433.hp2 HG02257.hp1 HG02486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0008 a0001c0010t0008 a0001c0001t0008 a0001c0010t0008	a0001c0001t0008g0123 a0001c0010t0008g0033 a0001c0010t0008g0034 others(1): Show a0001c0001t0008g0123 a0001c0010t0008g0033 a0001c0010t0008g0034 a0001c0010t0008g0218	4	242	0.0165	-353	c.146 others(18): Show c.1468+1021_1469-779del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CASTOR1_chr22_30280117_30294505	30288284	ACTCCTGG others(346): Show ACTCCTGGAGTTTCCAGACCAGCAGGGGAGGAGGTGACCCAAACCAGAGA GTAAGACCAGGAGGAAATAATACCCAGGGATTTCTAACAGCAGCACTTGA CTGGAATCATAACAGAGGCCCTTCTGCAGGCCTAAGACTGCTGAGTGCCC CTCAGCGGTTTTAAGTTTATAAAGGCCTCATGGGACCCTATGTATCAGAA CCATAACTATACCCATTTTACATAAGAGAAAACAGCTCAGAGAGGGAAAG TGATTTGCTCAAGGGCACACAGCCAGGGAGTGGTGGAGTAGGATTCGAAC CCCGACCCATCTGCTTTTAAGGCTTAAGCTCTTGGGACGGATCCCAGCAA CTGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19240.hp1 HG01496.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	424	0.0047	-353	c.184 others(14): Show c.184+69_184+421del	CASTOR1	ENSG00000239282.8	transcript	ENST00000407689.8	protein_coding	2/8			chr22	TogoVar
DDX51_chr12_132131594_132149319	132134651	CCCGAGTG others(346): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTGTG CCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCAC TCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCG AGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTG CCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCAC CTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02257.hp2 HG02148.hp1 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	2	334	0.0060	-353	c.42 others(11): Show c.4268_*4620del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1942		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134673	GCTCCTCC others(346): Show GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGA GTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTG CCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01433.hp1 others(1): Show HG01099.hp2 HG01123.hp1 HG01433.hp1 HG01978.hp1	a0002 a0002	a0002c0005 a0002c0032 a0002c0005 a0002c0032	a0002c0005t0005 a0002c0032t0005 a0002c0005t0005 a0002c0032t0005	a0002c0005t0005g0008 a0002c0032t0005g0092 a0002c0005t0005g0008 a0002c0032t0005g0092	4	334	0.0120	-353	c.42 others(11): Show c.4246_*4598del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1920		chr12	TogoVar
DHRSX_chrX_2214506_2505976	2276813	CAAAGAGA others(346): Show CAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAGGGGAGGAAATAGGGGAAAGAGAGAAAGAGAGATGGA GAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGG AAGAGGAGGAAATGGGGGAAGAGAGAGAAAGAGAGATGGAGAGGGAACAG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGGAGGAGAGGGAGGAAA TAGGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGG AGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATAGGGGAAAG AGAG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0043 a0003c0003t0002g0043	1	50	0.0200	-353	c.389 others(18): Show c.389-10219_389-9867del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DLGAP2_chr8_732628_1713476	1016592	GTGTGTGA others(346): Show GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTG TGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACG ACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACG CCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGAC CAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCT CCAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-353	c.73+ others(19): Show c.73+108633_73+108985del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GCSH_chr16_81076945_81101395	81085859	CAAAAACA others(346): Show CAAAAACAAAAAAAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0002c0004 others(5): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005 a0003c0003 a0004c0008 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0014 a0002c0004t0002 a0002c0005t0008 a0003c0003t0004 a0003c0003t0006 a0004c0008t0001 a0005c0006t0013 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(146): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0094 a0001c0001t0002g0119 a0001c0001t0002g0135 a0001c0001t0002g0144 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0118 a0001c0001t0003g0145 a0001c0001t0005g0023 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0011g0112 a0001c0001t0012g0090 a0001c0001t0015g0148 a0001c0001t0016g0155 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0028 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0005g0044 a0002c0002t0007g0050 a0002c0002t0007g0052 a0002c0002t0007g0054 a0002c0002t0009g0043 a0002c0002t0010g0079 a0002c0002t0014g0073 a0002c0004t0002g0014 a0002c0004t0002g0029 a0002c0004t0002g0031 a0002c0004t0002g0032 a0002c0004t0002g0085 a0002c0004t0002g0086 a0002c0005t0008g0071 a0002c0005t0008g0072 a0003c0003t0004g0022 a0003c0003t0004g0040 a0003c0003t0004g0041 a0003c0003t0004g0042 a0003c0003t0004g0149 a0003c0003t0004g0150 a0003c0003t0004g0151 a0003c0003t0006g0021 a0003c0003t0006g0152 a0003c0003t0006g0153 a0003c0003t0006g0154 a0004c0008t0001g0147 a0005c0006t0013g0098 a0006c0007t0001g0146	347	354	0.9802	-353	c.292 others(17): Show c.292+1389_293-1266del	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding	3/4			chr16	TogoVar
GPR176_chr15_39794008_39925266	39893852	CGGCCGGG others(346): Show CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGT TGGGGGCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	312	0.0032	-353	c.172 others(19): Show c.172+25650_172+26002del	GPR176	ENSG00000166073.12	transcript	ENST00000561100.2	protein_coding	1/2			chr15	TogoVar
HIVEP1_chr6_12007312_12169999	12099465	CTCACTGA others(346): Show CTCACTGAGTTTTTGGCCTGGAGGAGTGTGTTTATTTCAGCAGGCCCACC CCACATCATGTAGTTAGCCATTTAGTAACTGTTTAACATGACCCTTATAT GTGAAGAAAAAACGTGGTAACATAGATGCAACTCACTTCTCCACACCCTC ACCCTCTCACCTCTGCCTGGGGTCTCCTCACATCTTCCCCTATACAGTTT TGCCCACAGTCATAGCACAGCACTTACTACAGTTCTTAGTGCATGTAGTA GGCATTTGACAAATGTTTATTGAATCGATGATGGATGGTAGAGGTGTCAG AAAGGATGGATTCCTTTACTTAACAGGCAGGATTTGTAAACAGTGCGTTA TTAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	344	0.0029	-353	c.94+ others(17): Show c.94+10230_94+10582del	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNH1_chr1_210673314_211139148	210976202	AGGATCTA others(346): Show AGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGT ACATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACATG TATGTTTACTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCA AATGTCCATCAATGATAGACTAGATTAAGAAAATGTGGCACATACAATGA GATACCATCTCACACCAGTTGGAATGGCGATTATTAAAAAGTCAAGAAAC AACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTG GTGGGACTGTAAACTAGTTCAACCATTGCGGAAGTCAGTGTGGCGATTCC TCAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01070.hp1 others(13): Show HG00423.hp1 HG00597.hp1 HG01070.hp1 HG01071.hp2 HG02027.hp2 HG02165.hp2 HG02486.hp2 HG03017.hp1 HG03239.hp2 NA18961.hp1 NA18969.hp1 NA19007.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0007	a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 others(13): Show a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0003g0016 a0001c0001t0003g0104 a0001c0001t0003g0129 a0001c0001t0004g0117 a0001c0001t0006g0106 a0001c0001t0008g0069 a0001c0001t0011g0074 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0094 a0001c0002t0001g0125 a0001c0002t0001g0158 a0001c0002t0007g0073	16	164	0.0976	-353	c.103 others(21): Show c.1032+42228_1032+42580del	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	6/10			chr1	TogoVar
LRBA_chr4_150259435_151020284	150420419	GTATATAT others(346): Show GTATATATAAAGTATATATAATACATATATAATATATAAAGTATATATAA TACACATTATAATATATATAAAGTATATATAATACACATTATAATATATA TAAAGTATATATAATACACATTATAATATATATAAAGTATATATAATACA CATTATAATATATATAAAGTATATATAATACACATTATAATATATATAAA GTATATATAATACACATTATAATATATATAAAGTATATATAATACACATT ATAATATATATAAAGTATATATAATACACATTATAATATATATAAAGTAT ATATAATACACATTATAATATATATAAAGTATATATAATACACATTATAA TATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	180	0.0056	-353	c.704 others(19): Show c.7042-5182_7042-4830del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar
LUC7L_chr16_183990_234449	186611	GGGGAACA others(346): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	350	0.0029	-353	c.22 others(11): Show c.2234_*2586del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2378		chr16	TogoVar
MYZAP_chr15_57586904_57690364	57688050	TATATAAT others(346): Show TATATAATATGTGTGTACAATATACACATATATATGTGTGTACAATATAC ACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATAC ACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATAC ACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATATAC ACATATATTATGTGTGTACAATATACACATATATTATGTGTGTACAATAT ACACATATATAATATGTGTGTACAATATACACATATATATAATATGTGTG TACAATATACACATATATATAATATGTGTGTACAATATACACATATAATA TAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG02602.hp1 others(6): Show HG00140.hp1 HG01081.hp2 HG02602.hp1 HG03239.hp1 NA18948.hp2 NA18971.hp1 NA18981.hp1 NA18999.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 a0001c0001t0001 a0001c0003t0002 a0001c0003t0003	a0001c0001t0001g0226 a0001c0001t0001g0278 a0001c0001t0001g0280 others(6): Show a0001c0001t0001g0226 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0003t0002g0065 a0001c0003t0003g0130 a0001c0003t0003g0148 a0001c0003t0003g0150	9	352	0.0256	-353	c.35 others(11): Show c.3553_*3905del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2687		chr15	TogoVar
NPIPB11_chr16_29376310_29411711	29379954	CTGGCGTG others(346): Show CTGGCGTGTGCCTGTAGTCTCAGCTACTTGGGACACTGAAGTGGAAGGAT CGCTTGAGCCCAGGAGTTCAAGGCTGCCGTGAGCTATGATTGTGCCTCTG CAGTCCAGCCTGGGCGACTGCAGACTGCAGGACTTTTTTAAAGACCCTGT CTCTTAAAAAAAAAAAAATCTTAGATAAGAGGATGCTGTGCCTCCCTGGG GGTCTTCAGTCACCCATGGTCCTGGCAAGAGAGGAGGGCCAGGAGAGAGC TTCACCCACCTGCTGTCCTGCCCATGTGACATCCGCAGGTGCTGCCATGG CCACGACTGTTGTTACACTCGAGCTGAGGAGGCCGGCTGCAGCCCCAAGA CAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01074.hp1 HG01256.hp1 others(17): Show HG00423.hp2 HG01074.hp1 HG01256.hp1 HG01258.hp2 HG02071.hp1 HG02074.hp2 HG02145.hp1 HG02165.hp1 HG03239.hp2 HG03688.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 NA18941.hp1 NA19009.hp2 NA19054.hp2 NA19057.hp2 NA19066.hp2 NA19077.hp1 NA19089.hp2	a0010 a0028 a0040 others(6): Show a0010 a0028 a0040 a0041 a0090 a0091 a0103 a0105 a0106	a0010c0009 a0010c0085 a0028c0026 others(7): Show a0010c0009 a0010c0085 a0028c0026 a0040c0037 a0041c0036 a0090c0066 a0091c0065 a0103c0082 a0105c0084 a0106c0081	a0010c0009t0004 a0010c0009t0022 a0010c0085t0004 others(8): Show a0010c0009t0004 a0010c0009t0022 a0010c0085t0004 a0028c0026t0012 a0040c0037t0004 a0041c0036t0004 a0090c0066t0004 a0091c0065t0004 a0103c0082t0004 a0105c0084t0004 a0106c0081t0004	a0010c0009t0004g0002 a0010c0009t0004g0059 a0010c0009t0004g0062 others(13): Show a0010c0009t0004g0002 a0010c0009t0004g0059 a0010c0009t0004g0062 a0010c0009t0004g0064 a0010c0009t0022g0068 a0010c0085t0004g0067 a0028c0026t0012g0021 a0028c0026t0012g0388 a0040c0037t0004g0057 a0040c0037t0004g0065 a0041c0036t0004g0006 a0090c0066t0004g0061 a0091c0065t0004g0058 a0103c0082t0004g0060 a0105c0084t0004g0066 a0106c0081t0004g0063	20	428	0.0467	-353	c.11 others(11): Show c.1139_*1491del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding		1355		chr16	TogoVar
NXN_chr17_794310_984776	893937	TCCCTGGA others(346): Show TCCCTGGAAGCCAGAGGAAGCATCTCAACCCCCGGAAGCCAGAGGAAGCA TCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAG AGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTG GAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCA AACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGG AAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGG AAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCA AACG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	242	0.0041	-353	c.361 others(19): Show c.361-68212_361-67860del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
RFC3_chr13_33813149_33842500	33816171	TTGAACCC others(346): Show TTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCACTGCAC TCCAGCCTGGGAGACAGACTGGGACTCCATCTCAAGAAAAAAAAAAAGAG CTAAGATACCTGAGGGCCAGAGTCATTAAACATTAAAGTGATTGCAGCTG TAGTTTACCAACCCCGAGGACTTTACTTCCTCTGTAGCAATTTCTCATAT CCTATATATTCAAGAGTCTGGAGTAAAATTGCTAGATAAATACAGGGCCC TGGTTACATTTGAATTTCAGATAAAGGCTGATTTTTTTTCTCATATAAGT ATGTCCCTGGCAATATTTATTACAATTTCAAATATTGCCAGGGACATACT TATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00642.hp2 others(70): Show HG00423.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02145.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18989.hp1 NA18993.hp2 NA19004.hp2 NA19054.hp2 NA19068.hp2 NA19082.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0078 a0001c0001t0002g0013 a0001c0001t0002g0015 others(40): Show a0001c0001t0001g0078 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0005g0042 a0001c0001t0005g0082 a0001c0001t0010g0016	73	416	0.1755	-353	c.-20 others(11): Show c.-2007_-1655del	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding		1977		chr13	TogoVar
RIPK1_chr6_3063494_3120187	3093736	GCGCGCCT others(346): Show GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAA CCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGC CGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGA GCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTGCCGCACCT AGTAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTA CCTC	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	340	0.0029	-353	c.915 others(17): Show c.915+4081_915+4433del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHA_chr5_213320_262082	261553	GAGCATTA others(346): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTA CCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCC CCGACAGAGCATTACCGTGTGAGCTCCGCCCTCCCGTCAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCG TCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18949.hp1 NA18962.hp2 NA18747.hp1 NA18949.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0082 a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0082	3	266	0.0113	-353	c.51 others(11): Show c.5134_*5486del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4472		chr5	TogoVar
SDHA_chr5_213320_262082	261649	GAGCATTA others(346): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGC ATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCG CCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG TCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18994.hp1 NA18966.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0059 a0001c0001t0002g0008 a0001c0001t0002g0059	2	266	0.0075	-353	c.52 others(11): Show c.5230_*5582del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4568		chr5	TogoVar
TBC1D10A_chr22_30286990_30331941	30288284	ACTCCTGG others(346): Show ACTCCTGGAGTTTCCAGACCAGCAGGGGAGGAGGTGACCCAAACCAGAGA GTAAGACCAGGAGGAAATAATACCCAGGGATTTCTAACAGCAGCACTTGA CTGGAATCATAACAGAGGCCCTTCTGCAGGCCTAAGACTGCTGAGTGCCC CTCAGCGGTTTTAAGTTTATAAAGGCCTCATGGGACCCTATGTATCAGAA CCATAACTATACCCATTTTACATAAGAGAAAACAGCTCAGAGAGGGAAAG TGATTTGCTCAAGGGCACACAGCCAGGGAGTGGTGGAGTAGGATTCGAAC CCCGACCCATCTGCTTTTAAGGCTTAAGCTCTTGGGACGGATCCCAGCAA CTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 NA19240.hp2 HG01496.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0057 a0001c0001t0001g0058	2	388	0.0052	-353	c.37 others(11): Show c.3738_*4090del	TBC1D10A	ENSG00000099992.16	transcript	ENST00000215790.12	protein_coding		3705		chr22	TogoVar
TBC1D19_chr4_26579084_26761223	26638081	AACATTTA others(346): Show AACATTTATGTTACTCTGGGCATTGAGGAGAAAAGATGAGAAAGAAAAGA AAAAACACTTGAGGGATGTTCTGTTTTCTTTGTAGCTGCTCACAAGTAGG AGAGAGTCAGTTTCCCTTTACTTCATTCTCCCTACCTGCTATTTATTCCC TGTTGTTGGACAGGATGTAGTAGGTATACTTTGGATAATATCCAAGGAAA AATTACTGAAGGCACCAGAAGGATGGTGTTTAAAAAGGGATACATTTATA TTAAAAACTGTCTAAATATGTAGTATTGTATAATATACTGCCTTTCTTAT AGGAAGATGATGCTACTGACTCTTAGTCACACTCTCTTGGCCAGTCCCCC TTGT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02486.hp1 others(2): Show HG02055.hp1 HG02280.hp2 HG02486.hp1 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 others(2): Show a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309	5	310	0.0161	-353	c.370 others(15): Show c.370-689_370-337del	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	5/20			chr4	TogoVar
TEX35_chr1_178508109_178527650	178526150	ACTGGCTC others(346): Show ACTGGCTCTGGAATCTAGAGTTTAGATTAATTTATTAATGGGTAAAAAGA CAAATGAGCTGGAACAAAAAAAGTCCGTGTGACTCCAAAACCCAACCCCT GGTCTTGTTCTTCATGTTCAGGAACACTGACTTCACATTTCTTTCTTAAC TGAGTGTTCATAATCATAACTTGATTGATGATCAAATGTCTCTCCCACCT CCTTTCTCATCAGTATTCATATGGCAGCTTGTTATTCCTCCCAGGTAAAC TGGTTGAGAGGGAATATAAATTTGTTTAAGAGGTACCAATGTCAACTTTG CTCTAAAGCATCATGAACTTGGCCAGCTGCGGTGGCTCATGACTGTAATC CCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(136): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0004t0002 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0002g0028 a0002c0002t0001g0002 a0002c0002t0001g0052 a0003c0003t0001g0034 a0004c0004t0002g0009 a0004c0004t0002g0011 a0004c0004t0002g0030 a0006c0007t0001g0001	139	400	0.3475	-353	c.37 others(11): Show c.3711_*4063del	TEX35	ENSG00000240021.10	transcript	ENST00000319416.7	protein_coding		3501		chr1	TogoVar
TP73_chr1_3647516_3741201	3693978	GCCCTGCA others(346): Show GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAG CCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAA TCCCAGCCCTGCATTCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGC CTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCCTCCTC CCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCC CTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCGCAATC CCAC	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0123 a0001c0002t0020g0123	1	358	0.0028	-353	c.186 others(19): Show c.186+10801_186+11153del	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
U2SURP_chr3_142996570_143065725	143047266	GGGGGGCT others(346): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGTGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACTGGGCGGCTGACCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCTG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00544.hp2 others(224): Show HG00140.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0010 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0002t0002 a0001c0002t0011 a0001c0005t0001 a0001c0008t0007 a0001c0010t0001 a0003c0006t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(211): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0093 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0138 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0162 a0001c0001t0007g0185 a0001c0001t0007g0187 a0001c0001t0008g0003 a0001c0001t0008g0022 a0001c0001t0008g0026 a0001c0001t0008g0027 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0010g0178 a0001c0001t0010g0211 a0001c0001t0010g0215 a0001c0001t0010g0236 a0001c0001t0011g0044 a0001c0001t0011g0079 a0001c0001t0011g0095 a0001c0001t0019g0136 a0001c0001t0020g0109 a0001c0001t0021g0034 a0001c0001t0022g0194 a0001c0001t0025g0074 a0001c0002t0002g0025 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0069 a0001c0002t0002g0084 a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0011g0033 a0001c0005t0001g0011 a0001c0008t0007g0233 a0001c0010t0001g0226 a0003c0006t0002g0110	227	378	0.6005	-353	c.254 others(19): Show c.2545-3656_2545-3304del	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ANKFY1_chr17_4158821_4268979	4191601	ACTCTAAT others(345): Show ACTCTAATCTGGAGACTCCTAGTTGATGGTTAATCTGGAGACTCCTAGTT GATGGTTAATCTGGAGACTCCTAGTTGATGGTTAATCTGGAGACTCCTAG TTGATGGTTAATCTGGAGACTCCTAGTTGATGGTTGCTCTAATCTGGAGA CTCCTAGTTGATGGTTACTCTAATCTGGAGATGCCTAGTTGATGGTTACT CTAATCTGGAGACTCTTAGTTGATGGTTGCTCTAATCTGGAGACTCCTAG TTGATGGTTGCTCTAATCTGGAGACTCCTAGTTGATGGTTACTCTAATCT GGAGACGCCTAGTTGATGGTTACTCTAATCTGGAGACTCTTAGTTGATGG TTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(125): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00597.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19090.hp1 NA20129.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0002c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001 a0001c0002t0006 a0001c0002t0018 a0001c0002t0030 a0001c0004t0001 a0001c0004t0032 a0001c0005t0001 a0001c0005t0022 a0001c0006t0001 a0001c0007t0010 a0001c0009t0001 a0002c0011t0028	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(125): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0004g0108 a0001c0001t0004g0125 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0042 a0001c0001t0007g0095 a0001c0001t0007g0102 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0008g0012 a0001c0001t0008g0024 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0008g0075 a0001c0001t0020g0052 a0001c0001t0024g0098 a0001c0001t0025g0065 a0001c0002t0001g0149 a0001c0002t0006g0195 a0001c0002t0018g0190 a0001c0002t0018g0191 a0001c0002t0030g0085 a0001c0004t0001g0150 a0001c0004t0032g0213 a0001c0005t0001g0189 a0001c0005t0001g0196 a0001c0005t0001g0197 a0001c0005t0001g0210 a0001c0005t0022g0192 a0001c0006t0001g0039 a0001c0006t0001g0045 a0001c0006t0001g0051 a0001c0006t0001g0118 a0001c0007t0010g0070 a0001c0007t0010g0109 a0001c0007t0010g0110 a0001c0009t0001g0055 a0002c0011t0028g0297	128	300	0.4267	-352	c.137 others(19): Show c.1373-2474_1373-2123del	ANKFY1	ENSG00000185722.18	transcript	ENST00000341657.9	protein_coding	10/24			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004100	CCGCCCTC others(345): Show CCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTC TCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGT GTGGGATTCCTGAGCCCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGAT TCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCC TCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCC CTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCG TGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGA GCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0067 a0001c0001t0011g0067	1	266	0.0038	-352	c.459 others(16): Show c.459+663_459+1014del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C2CD4C_chr19_400445_414147	404480	GGGGGCAC others(345): Show GGGGGCACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCC CTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTGAGG GGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACG GGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGG GTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGG TCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTG TGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0007 a0001c0002t0011g0007	1	322	0.0031	-352	c.22 others(11): Show c.2264_*2615del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		964		chr19	TogoVar
C7orf50_chr7_992006_1143247	1038606	GGAAGTGA others(345): Show GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTGTCCGGGAGGGAGGT GGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGG CCAGCCGCCCTGTCCGGGAGGGAGGTCGGGGGGTCAGCCCTCCGCCCGGC CAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01433.hp1 others(10): Show HG00639.hp1 HG01243.hp2 HG01433.hp1 HG01928.hp1 HG02273.hp1 HG02630.hp2 HG02922.hp2 HG03491.hp2 NA18747.hp1 NA18955.hp1 NA19004.hp1 NA19054.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011	a0001c0001t0006g0093 a0001c0001t0009g0128 a0001c0001t0009g0131 others(10): Show a0001c0001t0006g0093 a0001c0001t0009g0128 a0001c0001t0009g0131 a0001c0001t0009g0133 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0001t0011g0309 a0001c0001t0011g0311	13	326	0.0399	-352	c.130 others(19): Show c.130-28815_130-28464del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CCDC63_chr12_110841987_110912535	110867246	GGACGGGG others(345): Show GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTG GAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCGGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02055.hp2 HG02486.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0014 a0005c0006t0001g0124 a0005c0006t0001g0014 a0005c0006t0001g0124	2	288	0.0069	-352	c.370 others(17): Show c.370-6498_370-6147del	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNN2_chr19_1021608_1044065	1034093	CGGGAGCG others(345): Show CGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG ACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTG GGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTC TGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGG AGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGAC GGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAG ACG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01884.hp1 others(3): Show HG00639.hp2 HG01081.hp1 HG01884.hp1 HG01981.hp2 HG02602.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0004 a0001c0001t0014 a0001c0002t0004	a0001c0001t0014g0051 a0001c0002t0004g0039 a0001c0002t0004g0040 others(1): Show a0001c0001t0014g0051 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0235	6	390	0.0154	-352	c.390 others(17): Show c.390+1434_391-1649del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1967847	GCTCCTCC others(345): Show GCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGTT CTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACC ACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCC GACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCCTCCTCCCCAGGCTG CCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCCT CCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCC CAGGCTGTCCCTGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCC TCC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	382	0.0026	-352	c.-26 others(19): Show c.-265-1652_-265-1301del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CTSS_chr1_150725188_150770778	150729225	TCAGACGG others(345): Show TCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGG CGGCCGGGCAGAGACGCTCCTCACCTCCCAGACAGGGTCTCGGCCGGGCA GAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCA CATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATG TGATGGCGGCTGGGAAGAGGCCTCCTCACTTCCTAGATGGGATGGCGGCC GGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCT CCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTCCC AGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	344	0.0029	-352	c.34 others(11): Show c.3469_*3820del	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		962		chr1	TogoVar
DCC_chr18_52335197_53540899	53086173	CTCTTCTT others(345): Show CTCTTCTTCTTCTTTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTC TTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCT TCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTT CCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTC TTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCT TCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTT CCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCT TCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0065 a0001c0002t0005g0065	1	114	0.0088	-352	c.126 others(21): Show c.1261+20010_1261+20361del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX51_chr12_132131594_132149319	132134840	ACGGTGCC others(345): Show ACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTG TGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCC ACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATG CCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03654.hp1 HG03654.hp2 others(3): Show HG03486.hp1 HG03654.hp1 HG03654.hp2 NA18941.hp1 NA18964.hp1 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0037 a0002c0002t0003 a0002c0002t0004 a0002c0002t0037	a0002c0002t0003g0006 a0002c0002t0003g0044 a0002c0002t0004g0004 others(1): Show a0002c0002t0003g0006 a0002c0002t0003g0044 a0002c0002t0004g0004 a0002c0002t0037g0052	6	334	0.0180	-352	c.40 others(11): Show c.4080_*4431del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1753		chr12	TogoVar
DDX51_chr12_132131594_132149319	132148890	ACCTCGGT others(345): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0039 a0004c0004t0039	a0004c0004t0039g0082 a0004c0004t0039g0082	1	334	0.0030	-352	c.-49 others(11): Show c.-4946_-4595del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4572		chr12	TogoVar
DHRSX_chrX_2214506_2505976	2281938	GAGAGAGA others(345): Show GAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGG GAA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02717.hp1 HG01261.hp1 HG02717.hp1	a0004 a0007 a0004 a0007	a0004c0004 a0007c0009 a0004c0004 a0007c0009	a0004c0004t0005 a0007c0009t0013 a0004c0004t0005 a0007c0009t0013	a0004c0004t0005g0009 a0007c0009t0013g0005 a0004c0004t0005g0009 a0007c0009t0013g0005	2	50	0.0400	-352	c.388 others(17): Show c.388+9212_388+9563del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DIRAS1_chr19_2709567_2726372	2713072	CCCCATCC others(345): Show CCCCATCCCTCACTTTCTACACCCACCACCTCCTCCACCCTTCCTCCCAT CCCTCACTTCCTCCACCCATCACCTCCTCCATCCTTCATCCCATCCCTCA CTTCCTACACCCATCGCCTCCTCCACCCTTCACCCCATACCTCACTTCCT ACACCCATCACCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCC ACCCTTCATCCCATCCGTCACTGTCTACACCGATCACCTCCTCCACCCTT CAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(165): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18976.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0041 a0001c0001t0054 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0034 a0001c0002t0036 a0001c0002t0043 a0001c0002t0044 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0021 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0005g0022 a0001c0001t0005g0052 a0001c0001t0005g0071 a0001c0001t0005g0087 a0001c0001t0005g0095 a0001c0001t0007g0014 a0001c0001t0007g0060 a0001c0001t0007g0096 a0001c0001t0008g0019 a0001c0001t0015g0035 a0001c0001t0015g0053 a0001c0001t0020g0039 a0001c0001t0021g0036 a0001c0001t0041g0097 a0001c0001t0054g0109 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0040 a0001c0002t0001g0068 a0001c0002t0001g0083 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0005g0009 a0001c0002t0005g0082 a0001c0002t0007g0034 a0001c0002t0034g0084 a0001c0002t0036g0093 a0001c0002t0043g0069 a0001c0002t0044g0104 a0001c0002t0046g0092 a0001c0002t0047g0072 a0001c0002t0048g0070	168	412	0.4078	-352	c.37 others(11): Show c.3786_*4137del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1494		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713087	TCTACACC others(345): Show TCTACACCCACCACCTCCTCCACCCTTCCTCCCATCCCTCACTTCCTCCA CCCATCACCTCCTCCATCCTTCATCCCATCCCTCACTTCCTACACCCATC GCCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCATCACCTCC TCCACCCTTCACCCCATACCTCACTTCCTACACCCACCACCTCCTCCACC CTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCAT CCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATC CGTCACTGTCTACACCGATCACCTCCTCCACCCTTCATCCCATCCCTCAC TTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	412	0.0024	-352	c.37 others(11): Show c.3771_*4122del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1479		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713562	CCCTCACT others(345): Show CCCTCACTTCCTCCACGCACCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCC ATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	412	0.0024	-352	c.32 others(11): Show c.3296_*3647del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1004		chr19	TogoVar
DLGAP2_chr8_732628_1713476	1013790	GCGCCTCC others(345): Show GCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGA GACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACG CCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTG ACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCA CTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAGGAC AGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTG CGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGA CGA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	-352	c.73+ others(19): Show c.73+105836_73+106187del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216288	TATGTATA others(345): Show TATGTATACAATATGTGCATACAATATGTATATATGTATACAATATGTGC ATACAATATGTATATATGTATACAATATGTGCATACAATATGTATATATG TATACAATATGTGCATACAATATGTATATATGTATACAATATGTGCATAC AATATGTATATATGTATACAATATGTGCATACAATATGTATATATGTATA CAATATGTGCATACAATATGTATATATGTATACAATATGTGCATACAATA TGTATATATGTATACAATATGTGCATACAATATGTATAGATGTATACAAT ATGTGCATACAATATGTATAGATGTATACAATATGTGCATACAATATGTA TAG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0056 a0002c0056	a0002c0056t0060 a0002c0056t0060	a0002c0056t0060g0010 a0002c0056t0060g0010	1	210	0.0048	-352	c.44- others(17): Show c.44-27369_44-27018del	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 10000 hits)