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
ADARB2_chr10_1172313_1742525	1239141	CCCTCCCG others(408): Show CCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGC CTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTTTACTCCCCC CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTCACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0103 a0001c0001t0057g0103	1	106	0.0094	-415	c.136 others(19): Show c.1361+2575_1361+2989del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049238	GGAACATA others(408): Show GGAACATATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACA TGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCA GAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAAC ACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGG GAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATG GGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGA GGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACA CATGGGGGGCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 NA18952.hp2 NA19065.hp1 others(1): Show HG01361.hp1 NA18952.hp2 NA19065.hp1 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0147 a0002c0002t0003g0055 a0002c0002t0003g0109 others(1): Show a0002c0002t0001g0147 a0002c0002t0003g0055 a0002c0002t0003g0109 a0002c0002t0003g0110	4	308	0.0130	-415	c.50 others(11): Show c.5078_*5492del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2865		chr8	TogoVar
C2CD4C_chr19_400445_414147	404385	GGGGACGG others(408): Show GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCT GAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGG CACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAG GGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGG TCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTGAGGGGTGT GGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGTCC TGCCCCGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTG GGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTG CCCTGAGGGGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	1	322	0.0031	-415	c.22 others(11): Show c.2296_*2710del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1059		chr19	TogoVar
CANT1_chr17_78986716_79014764	79004480	AGAGGGGA others(408): Show AGAGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAAG GGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTA GGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGG GAGTTAGGGAGAGGGGAGCTGGGGGGGAGTTATGGAGCAAGGAGTTAGGG AGGGGGGAGTTAGGGAGATGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGG GGAGTTAGGGAGGGGAGTTAGGGAGAAGGGAGTTAGGGAGAGGGGAGCTA GGGAGAGGGGGGTTAGGGAAGGGGGAGTTAGGGAGGGGAGTTAGGGAGGG GAGTTAGGGAGAGGGGATTTAGGGAGGGGGGAGTTAGGGAGAGGAGTTAA GGAGAGGGGAGTTAGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02723.hp2 others(9): Show HG02109.hp1 HG02572.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0004 a0001c0002t0002 a0002c0004t0001 a0001c0001t0004 a0001c0002t0002 a0002c0004t0001	a0001c0001t0004g0006 a0001c0001t0004g0194 a0001c0001t0004g0243 others(2): Show a0001c0001t0004g0006 a0001c0001t0004g0194 a0001c0001t0004g0243 a0001c0002t0002g0043 a0002c0004t0001g0191	12	394	0.0305	-415	c.-14 others(19): Show c.-147+4769_-147+5183del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CSMD1_chr8_2930361_4999914	3795609	CATAGATA others(408): Show CATAGATATAGATATATATCTATCATGTATAGATATAGATATATATCTAT CATAGATATAGATATATATCTATCATGTATAGATATAGATATATATCTAT CAAGTACAGCTATAGATATCTATCATGTACAGCTATAGATACCTATCATG TACAGCTATAGATACCTATCATGTACAGATATAGATATATACCTATCATG TACAGATATAGATATATATCTATCATGTACAGATATAGATATATATCTAT CATGTACAGATATAGATATATATCTATCATGTACAGATATATATATCATG TACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTACA GATATAGATATCTATCATGTACAGATATAGATATATATCTATCATGTATA TAGATATATATCATGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0073 a0001c0046t0073	a0001c0046t0073g0091 a0001c0046t0073g0091	1	126	0.0079	-415	c.819 others(19): Show c.819-41982_819-41568del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CTNND2_chr5_10966836_11909446	11816923	AGAGAGAG others(408): Show AGAGAGAGAGGAGGAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGAGG AGAGAGAGAGAGGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGA GGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAG AGAGAGAGGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGAGGA GGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGGA GGAGAGAGAGAGAGAGAGGAGGAGAGAGAGAGAGAGAGAGGAGGAGAGAG AGAGAGGAGGAGAGAGAGAGAGAGAGAAGAGAGAGAGAGGGGGAGAGAGA GAGAGAGAGGAGGAGAGAGAGAGAGGGGGAGAGAGAGAGAGAGAGGAGGA GAGAGAGAGAGAGGAG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	26	0.0385	-415	c.38- others(17): Show c.38-85066_38-84652del	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
DACH1_chr13_71432966_71872204	71734129	ATATACCC others(408): Show ATATACCCCATATATATGTATATCCCATATACGTATACCCCATATATATG TATATCCCATATACGTATACCCATATATATGTATATCCCATATACGTATA CCCCATATATATGTATATCCCATATACGTATACCCCATATATATGTATAT CCCATATACGTATACCCCATATATATGTATATCCCATATACGTATACCCC ATATATATGTATATCCCATATACGTATACCCCATATATATGTATATCCCA TATACGTATACCCCATATATATGTGTATCCCATATACGTATACCCCATAT ATATGTATAGCCCATATACGTATACCCCATATATATGTATATCCCATATA CGTATACCCCATATATATGTATATCCCATATACGTATACCCCATATATAT GTATATCCCATATACG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02622.hp1 others(10): Show HG02109.hp1 HG02257.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03239.hp2 NA18522.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0005t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0007t0002	a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0002g0037 others(10): Show a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0002g0037 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0004g0018 a0001c0001t0004g0047 a0001c0005t0002g0041 a0002c0002t0001g0086 a0002c0002t0003g0088 a0002c0002t0004g0077 a0002c0007t0002g0067 a0002c0007t0002g0087	13	102	0.1275	-415	c.849 others(19): Show c.849-52634_849-52220del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1014622	TGCCTCCA others(408): Show TGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTG TGACCAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGT GCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGA CCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCC TCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGA CAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACT GTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAG ACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGT GACCAGGACAGACGGC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	-415	c.73+ others(19): Show c.73+106721_73+107135del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOK7_chr4_3458306_3499482	3490728	TCATTCCT others(408): Show TCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCCTTCTTTCCTTCTCCC CCGGCTCATTCATTCCTTCCTCTGCCCCCCCGCTCATTCATTCCTGCCTT CCCCCCATTCATTCCTTCCTTCCCCCCCACTCATTTCATTCCTTCATTAC CCTCCTGCTCATTAATTTCTTCCTTCTCTCCTCTGCTCATTCATTCCTTC CTTCTTCCCCTGCTCATTCATTCCTTCTCCCCCTGCTCATTTCTTCATTT CCCTCCTGCTCATTCATTCCTTCCTTCTTCTTCCTGCTCATTCATTCCTT CCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTC TCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTC GTTTCTCCCTTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG00639.hp2 HG00738.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0060 a0004c0004t0006g0238 a0004c0004t0006g0060 a0004c0004t0006g0238	2	404	0.0050	-415	c.772 others(16): Show c.772+966_772+1380del	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
INPP5E_chr9_136423619_136444845	136431308	CCCCCCAG others(408): Show CCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGG CCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACC TCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCA TCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCC ACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGC CCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAG GCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCAC CTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCA TCTCCCTCCACGCCCG	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0004 a0001c0028t0004	a0001c0028t0004g0197 a0001c0028t0004g0197	1	382	0.0026	-415	c.154 others(17): Show c.1549+101_1550-192del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
ISX_chr22_35061158_35092387	35063012	GTGGAAGT others(408): Show GTGGAAGTGGCAGAGGCAAAAAGAGAGAGGCGATGGAGCCCTTTCTCTCT GCTGGGCCTCGTGCCTGCAGCTGTGTGCTCACCGTTTCACTTAATCCATT CAACAGCCTGATCAATTAGGTGTCATTAATGCCATTTAACAGCTGAGGAG ACATGCCCAGAGAAGTGGAGTGATAGGACAGCTAGCCACTAGAAGCAGCA AGATTCAAACCCAGGTGAGTCTGGCTCTGCACCTCACATCCCTCCCACTT TGCTGTAATACCCAGAGACCATCTGGCTCAGCCCTCTCATTTCACAGGTG AAGAACTGAGCAGCAGCGAGAGAAATTGCCAGAGTTACACCTGTTGTTTT CAGCACCTTGTTTGATTTCCTTTCATTTTGCCTCTTTCCAAGGTGTGACT GGCCCCTGGACAGGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(263): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0010 a0011	a0001c0001 a0001c0010 a0004c0015 others(3): Show a0001c0001 a0001c0010 a0004c0015 a0005c0005 a0010c0017 a0011c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0010t0001 a0004c0015t0003 a0005c0005t0006 a0010c0017t0006 a0011c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0119 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0010 a0001c0001t0004g0020 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0063 a0001c0001t0004g0066 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0008g0029 a0001c0001t0010g0117 a0001c0001t0011g0058 a0001c0001t0012g0126 a0001c0001t0013g0053 a0001c0010t0001g0003 a0004c0015t0003g0123 a0005c0005t0006g0017 a0005c0005t0006g0018 a0005c0005t0006g0030 a0005c0005t0006g0056 a0010c0017t0006g0061 a0011c0016t0001g0003	266	410	0.6488	-415	c.-37 others(11): Show c.-3786_-3372del	ISX	ENSG00000175329.13	transcript	ENST00000404699.7	protein_coding		3145		chr22	TogoVar
LMLN_chr3_197955217_198048720	198003614	ATAGTAAG others(408): Show ATAGTAAGTTTGACATTATCTATATATCATCTATACAGATACATATCATA CGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCA TACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATAT CATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACAT ATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATAC ATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGAT ACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAG ATACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATAC AGATACATATCATACG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02109.hp1 HG02622.hp2 others(4): Show HG01361.hp2 HG02109.hp1 HG02622.hp2 HG03130.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0054 a0002c0002t0006 a0002c0002t0054	a0002c0002t0006g0023 a0002c0002t0006g0024 a0002c0002t0006g0025 others(4): Show a0002c0002t0006g0023 a0002c0002t0006g0024 a0002c0002t0006g0025 a0002c0002t0006g0026 a0002c0002t0006g0051 a0002c0002t0006g0052 a0002c0002t0054g0022	7	258	0.0271	-415	c.131 others(17): Show c.1319+505_1319+919del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188784761	CATATATA others(408): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATATTCCATCATATATATA TATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATA TATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCA TATATATATATTCCATCATATATATATATTCCATCATATATATATATTCC ATCATATATATATTCCATCATCATATATATATTCCATCATATATATATAT TCCATCATATATATATATTCCATCATATATATATATTCCATCATATATAT ATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATAT ATATATATTCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02109.hp2 HG02630.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0027 a0002c0008t0060 a0002c0008t0027 a0002c0008t0060	a0002c0008t0027g0042 a0002c0008t0060g0015 a0002c0008t0027g0042 a0002c0008t0060g0015	2	76	0.0263	-415	c.141 others(21): Show c.1410+24490_1410+24904del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PKP3_chr11_389209_409908	401120	GCCCCGCT others(408): Show GCCCCGCTCACCCCCGGCCCCGCTCACACCTGCCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACACCCGGCCCCGTTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGGCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACACC CGCCCCGCTCACACCC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	216	0.0046	-415	c.173 others(17): Show c.1737+416_1737+830del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401137	CCCCGCTC others(408): Show CCCCGCTCACACCTGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCC CGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCT CACACCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGG CCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACCCCCGGCCCCGTTCACACCCGCCCCGCTCACACCCG CCCCGCTCACCCCCGG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0196 a0001c0008t0001g0196	1	216	0.0046	-415	c.173 others(17): Show c.1737+442_1737+856del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RPH3AL_chr17_207389_357807	255725	GCGTCTGT others(408): Show GCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGAC TACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCC GTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCC TATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGCGTCTGTCCTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	133	0.0075	-415	c.439 others(17): Show c.439-8855_439-8441del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SDHA_chr5_213320_262082	259983	CCAGAGCA others(408): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTG AGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCA TTACCGTGTGAGCTCCGCCTCCGTCAGAGCATTACCGTGTGAGCTCCGCC TCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCC GTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGT GAGCTCCGCCTCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01928.hp2 HG01993.hp1 HG01433.hp2 HG01928.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0001 a0001c0001t0007g0055 a0001c0001t0002g0001 a0001c0001t0007g0055	3	266	0.0113	-415	c.35 others(11): Show c.3564_*3978del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2902		chr5	TogoVar
SDK1_chr7_3296252_4274000	3962921	CCTGGATG others(408): Show CCTGGATGTAACCAGTGGGTACACCCAGGCTCACAGCTACCTGACCTGGA CGTATCCAGTGAGTACACTCAGCTCCATGGCTACCTGGATGTAACCACTG GGTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGTACA CTCAGCCCCATGGCTACCTGGATGTAACCAGTGGGTACACCCAGGCTCAC AGCTACCTGATCTGGACGTATCCAGTGAGTACATTCAGCCCCATGGCTAC CTGGATGTAATCAGTGGGTACACCCAGGCTCACAGCTACCTGACCTGGAC GTATCCAGTGAGTACATTCAGCCCCATGGCTACCTGGATGTAACCAGTGG GTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGTACAT TCAGCCCCATGGCTAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01167.hp1 others(22): Show HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01243.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2 NA18522.hp2 NA19030.hp2 NA20300.hp2	a0001 a0002 a0009 others(7): Show a0001 a0002 a0009 a0010 a0019 a0025 a0026 a0027 a0031 a0034	a0001c0007 a0001c0010 a0001c0011 others(18): Show a0001c0007 a0001c0010 a0001c0011 a0001c0014 a0001c0031 a0001c0061 a0001c0067 a0001c0072 a0001c0088 a0002c0012 a0002c0013 a0002c0066 a0009c0082 a0010c0019 a0010c0020 a0019c0051 a0025c0070 a0026c0069 a0027c0068 a0031c0074 a0034c0081	a0001c0007t0021 a0001c0010t0060 a0001c0011t0008 others(20): Show a0001c0007t0021 a0001c0010t0060 a0001c0011t0008 a0001c0011t0039 a0001c0014t0018 a0001c0031t0001 a0001c0061t0031 a0001c0067t0068 a0001c0072t0065 a0001c0088t0009 a0002c0012t0016 a0002c0013t0015 a0002c0013t0064 a0002c0066t0023 a0009c0082t0001 a0010c0019t0074 a0010c0020t0070 a0019c0051t0062 a0025c0070t0026 a0026c0069t0069 a0027c0068t0014 a0031c0074t0042 a0034c0081t0008	a0001c0007t0021g0110 a0001c0010t0060g0017 a0001c0011t0008g0028 others(22): Show a0001c0007t0021g0110 a0001c0010t0060g0017 a0001c0011t0008g0028 a0001c0011t0039g0061 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0031t0001g0018 a0001c0061t0031g0100 a0001c0067t0068g0001 a0001c0072t0065g0027 a0001c0088t0009g0048 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0015g0025 a0002c0013t0064g0026 a0002c0066t0023g0089 a0009c0082t0001g0076 a0010c0019t0074g0009 a0010c0020t0070g0008 a0019c0051t0062g0019 a0025c0070t0026g0112 a0026c0069t0069g0064 a0027c0068t0014g0014 a0031c0074t0042g0081 a0034c0081t0008g0075	25	116	0.2155	-415	c.142 others(17): Show c.1429+143_1429+557del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	9/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWA5B1_chr1_20285875_20364518	20357323	TCCTCACT others(408): Show TCCTCACTTAGATGAGACGTGAATAAGCAACCTATGAGAAACTGTGCTAT GGGCAAAGATGTTGAGGAAGCAGTAGAAAGACAAACTTCTTTAGATTAGG ACAACCTGACCCGTTAATATGTTACTGTGCGTTGTCAGGCTCCGAGCAGG TGACCCAGCAGCAGCTCTTCTCTGGTTACTAGGTCGCAAAATGCTGGTCT AGATCTCTCTTAGGGCTCCTGCGGCACTGGCGTTCAGAAAGCCTTTACTG GGTGCCTACTGTATGCCAGGCATGGCATACTGGGGTACCACAGTGAACAT ACGAGGTGCTGTCCCTGTCCTTTTTGGAGCTTGGCAAGGAGCATTTGAAG AGTCTCTGTTTCATGAATCATTTTCCCACTCCTTGGTTCTCTAGGTGGGT TTGTCTTCACTGGCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp1 NA18994.hp1 NA18977.hp1 NA18994.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0024	a0003c0003t0024g0177 a0003c0003t0024g0185 a0003c0003t0024g0177 a0003c0003t0024g0185	2	328	0.0061	-415	c.30 others(11): Show c.3061_*3475del	VWA5B1	ENSG00000158816.16	transcript	ENST00000289815.13	protein_coding	22/22	3061		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179313267	GGGACGCA others(407): Show GGGACGCACACGCATTCACACTCATGCACACACTCACACCGAGACAGAGG AGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACACGCATTCA CACTCATGCACACACACACACCGAGACAGAGGAGGGCCTGGCCAGAGCAG GGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCATGCACACACTCA CACCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGA CGCACACGCATTCACACTCATGCACACACACACATCGAGACAGAGGAGGG CCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACAAGCATTCACACT CATGCACACACACACTCACACCGAGACAGAGGAGGGCCTGGCCGGAGCAG GGGTGTCAGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	276	0.0036	-414	c.534 others(19): Show c.534+30086_534+30499del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ANKRD11_chr16_89262630_89495561	89328578	CACCCAGG others(407): Show CACCCAGGCGTACGGGTGAATCTGCAGAGGCCCCTGCTGAGTGAGTGGAC ACACCCAGGAGCACGGGCGAAATCAGCGGAGGCCCCTGCTGAGTGAGTGG ACACACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTGAGTGAGT GGACATACCCAGGAGCACGGGCGAAATCAGCGGAGGCCCCTGCTGAGTGA GTGGACACACCCAGGCGCACGGGCGAATCAGCGGAGGCCCCTGCTGAGTG AGTGGACATACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTGAG TGAGTGGACATACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTG AGTGAGTGGACATACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGC TGAGTGAGTGGACAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0219 a0002c0002t0002g0220 a0002c0002t0001g0219 a0002c0002t0002g0220	2	310	0.0065	-414	c.-59 others(19): Show c.-59-11914_-59-11501del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ARHGAP18_chr6_129571132_129715177	129609573	TGTTACCT others(407): Show TGTTACCTGTTTCTGAGGAATTATATCTTTGTTAGTGAATGTACTTAAAA GAACTCGTCTCAGAATCACACAATGTCCACTAGTGGCAAACGTGCTATAG GTGTTACATGAAGTGAGACAATGACAAGCTATGAAACTTACAAACACCAC AGTTTCAGGGAGCTCTAAGTACCAGACACCAAACCCAGGGGACACAAGTG GAAAATTATGATCAGAATATATCAGGTTACTCGAATCCTATTAAAATGAG ATCACTATGTAGTAAGAGCCAAGGAGGCCGAAACTGGTGTCCTAAATCAA GGCAACTTATCAAAAAAAGCAGGTGATGCAAACTGTGAAATGTATAAAGA GTAATTCCAATCCTGGCAACACCACAGCCCATTAGAAGCAGGCCAGGACA GTGTGCACTCCCCAA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	238	0.0042	-414	c.112 others(19): Show c.1122+1546_1123-1522del	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	8/14			chr6	TogoVar
ASAP1_chr8_130047104_130448674	130049867	TGGGGGCA others(407): Show TGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCA GAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAT ACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGG GGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGA GAACACATGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT GGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACGGGGGGA AGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0043	1	308	0.0033	-414	c.44 others(11): Show c.4450_*4863del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2236		chr8	TogoVar
ASMT_chrX_1610059_1648081	1641757	ACACAGCC others(407): Show ACACAGCCTCTCTGTGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAG GTCCACCCATCTTGATGGTTCATGAGGACTTGGGCATGGCCTCTATGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGG TCCATGAGGATGTGGGCACAACCTCTTTGTGTGTGATGGGGACAGTGTCC CAGTGTCTGTGAGGTCCACCCATCCGATGGTTCATGAGGACGTGGGCACA GCCTCTGTGTGTAATGGGGATAGCATCCCAGTGTCCTGTGAGGTCCATCC ATCCTGATGGCCCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGTGTGT GATGGGGACGGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGT CCATGAGGACATGGG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	223	0.0045	-414	c.911 others(15): Show c.911-960_911-547del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
C1orf174_chr1_3884133_3905272	3891889	AGGGTGCT others(407): Show AGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGG TGCTAGGATCAGAGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCT AGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGA TCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAG GGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCC CGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGG TCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGGTCTA GACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGGTCTAGACA CACACACGGGTGGGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(82): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01175.hp1 HG01515.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02257.hp2 HG02293.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG03017.hp2 HG03130.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18991.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0006 a0001c0001 a0001c0010 a0003c0006	a0001c0001t0003 a0001c0001t0011 a0001c0001t0020 others(3): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0010t0003 a0003c0006t0003	a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0020 others(14): Show a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0045 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0011g0046 a0001c0001t0020g0152 a0001c0001t0021g0153 a0001c0010t0003g0137 a0003c0006t0003g0017	85	440	0.1932	-414	c.129 others(15): Show c.129+580_130-833del	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
C1orf174_chr1_3884133_3905272	3892227	GGCCCGGG others(407): Show GGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCC CGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGG TCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGGTCTA GACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGGTCTAGACA CACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACA CACGGGTGGGAGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACG GGTGGGAGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTG GGCGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCG GGTGCTAGGATCAGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp2 HG06807.hp2 others(1): Show HG02647.hp1 HG03209.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0018 a0001c0007t0003g0018	4	440	0.0091	-414	c.129 others(15): Show c.129+242_129+655del	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
DLGAP2_chr8_732628_1713476	1403968	AGAGTCGT others(407): Show AGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCATCGTCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGT GCCACCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTCGTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-414	c.107 others(19): Show c.107-97371_107-96958del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137565308	ACTGTCTG others(407): Show ACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 NA18951.hp1 others(5): Show HG01515.hp1 HG01517.hp2 NA18951.hp1 NA18990.hp2 NA19007.hp2 NA19080.hp2 NA19087.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0124 a0001c0001t0001g0132 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0002g0003 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0302	8	340	0.0235	-414	c.641 others(15): Show c.641-568_641-155del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567312	ACTCTGTC others(407): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAG CTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	340	0.0029	-414	c.641 others(17): Show c.641-2572_641-2159del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567454	TGGGTGAC others(407): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA21309.hp1 HG02572.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0032 a0001c0001t0001g0076	2	340	0.0059	-414	c.641 others(17): Show c.641-2714_641-2301del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EXOC3_chr5_438176_472290	467583	TGGCGCCC others(407): Show TGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATGGCGCCC TCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCT GATCCCCTCATGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTC CCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGGTCCCCT CATGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCTGATCCCCTCATG TCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTG ACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACAT CCCCTCAGCCTGGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0071 a0001c0002t0036g0071	1	418	0.0024	-414	c.68 others(10): Show c.686_*1099del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		294		chr5	TogoVar
FRYL_chr4_48492357_48785279	48659499	GGGAGAAG others(407): Show GGGAGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0211 a0002c0004t0001g0211	1	282	0.0036	-414	c.-81 others(19): Show c.-81+24760_-80-25010del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
GRP_chr18_59215158_59235771	59234064	TATATTAT others(407): Show TATATTATATATACTATATAGTATTTATATATATATTATATATACTATAT AGTATATTATATATATACTATATATACCATGGTATATATAATATAACATA TTATACATACCATGGTATATATAATATAACATATTATACATACCATGGTA TATATAATATAACATATTATACATACCATGGTATATATAATATAACATAT TATACATACCATGGTATATATATAATATAACATATTATACATACCATGGT ATATATATAATATAACATATTATACATACCATGGTATATATATAATATAA CATATTATACATACCATGGTATATATATAATATAACATATTATACATACC ATGGTATATATATAATATAACATATTATACATACCATGGTATATATATAA TATAACATATTATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02647.hp2 others(6): Show HG01243.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(3): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167	9	408	0.0221	-414	c.35 others(11): Show c.3597_*4010del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3294		chr18	TogoVar
HLA-DQA1_chr6_32632406_32648684	32648270	TAGAATTT others(407): Show TAGAATTTTATGAGGCCAACATCACCCTGATACCAAAGCCTGGCAGAGAC ACAACAAAAAAAAGAGCATTTTAGGCCAATATGCCTGATGAACATCAATG TGAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCACATCAAA AAGCTTATCCACCACGATCAAGTTGGCTTCATCCCTGGGATGCAAGGCTG GTTCAACATACGCAAATCAATAAATGTAATCCACCACATAAACAGAACCA ATGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGACTTCGAA AAAATTCAACAGCCCTTCATGCTAAAAACTCTCAATAAACTAGGTATTGA TGGAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCA ATATCTTACTGAATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0025 a0006c0007t0005g0025	1	86	0.0116	-414	c.53 others(11): Show c.5340_*5753del	HLA-DQA1	ENSG00000196735.13	transcript	ENST00000343139.11	protein_coding		4587		chr6	TogoVar
IL1A_chr2_112768925_112789493	112776428	TCCCAAAA others(407): Show TCCCAAAAACCCACAACCATGACCCGCCCCCTCCTCTGAATGTCCTACCC AAAAACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAA ACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCC ACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAA CCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCAC GACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACC CGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCC CCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCACGACCCGCCCCCT CCTCTGAATGTCCTA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	358	0.0028	-414	c.615 others(17): Show c.615+1145_616-1162del	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
KLHL32_chr6_96919728_97145753	97055519	CAGGTGTG others(407): Show CAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAACGC AGGTGGGTTACTTGAGGCCAGGAATTCAAGACCATCCTGGCCAACATGGT GAAACTCTGTCTCTACTAAAAATACAAAAATTAACCAGGTGTGGTGACAT GTGCCTGTACTCCCAGCTAGTTGAGAGGTTGACGTGAAAGAATTGCTTGA ACCTGGGAGGTGGAGGTTGCAGTGGGCCGATATCGTGCCCCTGCACCCCA GCCGAGGTAACAGACTGAGAACCTGTCTAAAAAAAAAAAAAAAAAAAAAA AAAACCCCTTCTTATTTCTATATTCCTCTTGAGCTACCACTTATTTCTCT GACTCTTCTCACAGCAGAGCTTATGAAAAGTGTTACATAAAGTTATTTTT CCTCACTTTCACTCA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0197 a0002c0002t0004g0197	1	244	0.0041	-414	c.313 others(17): Show c.313-9108_313-8695del	KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	4/10			chr6	TogoVar
LOC128462377_chr16_89312046_89423292	89328578	CACCCAGG others(407): Show CACCCAGGCGTACGGGTGAATCTGCAGAGGCCCCTGCTGAGTGAGTGGAC ACACCCAGGAGCACGGGCGAAATCAGCGGAGGCCCCTGCTGAGTGAGTGG ACACACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTGAGTGAGT GGACATACCCAGGAGCACGGGCGAAATCAGCGGAGGCCCCTGCTGAGTGA GTGGACACACCCAGGCGCACGGGCGAATCAGCGGAGGCCCCTGCTGAGTG AGTGGACATACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTGAG TGAGTGGACATACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTG AGTGAGTGGACATACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGC TGAGTGAGTGGACAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA20300.hp2 HG03130.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0364 a0001c0001t0000g0365 a0001c0001t0000g0364 a0001c0001t0000g0365	2	366	0.0055	-414	c.10- others(17): Show c.10-11917_10-11504del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
MTM1_chrX_150563621_150678143	150583455	TATAATTA others(407): Show TATAATTATAAATATATATAAATTATATATATTATATATAAATTATAAAT ATATATAATTTATATATATTATATATAAATTATATATATTATACATAATT TATATATAATATATAATTTATATATAATATATATAATTTATATATAATAT ATAATTTATATATATTATATATAATTTATATATAATATATAATTTATATA TATTATATATAATTTATATATAAATAATTTGTATATATTATTTATAAATA TATAAATTATATATATTATATAAATTATATATTATATATAAATTAATATA TATTAAATTAATATATATTTAATATATAAAATATATATAAAATATATATT AAATATATATATTAAATATACAAAATATATATAAATATATATCAAATATA TAAAATATATATTAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG01496.hp2 others(7): Show HG00323.hp1 HG01070.hp2 HG01496.hp2 HG01975.hp2 HG02602.hp1 HG03225.hp1 HG03239.hp1 HG03540.hp1 HG04184.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0110	10	277	0.0361	-414	c.-10 others(17): Show c.-10-9146_-10-8733del	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRKCA_chr17_66297613_66815743	66798699	TGGTGGTG others(407): Show TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	1	178	0.0056	-414	c.185 others(19): Show c.1855-5163_1855-4750del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799145	ACGGTGGT others(407): Show ACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGA CGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0144 a0001c0001t0078g0144	1	178	0.0056	-414	c.185 others(19): Show c.1855-4727_1855-4314del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16			chr17	TogoVar
RAB40C_chr16_585066_634268	611662	CAGAGACA others(407): Show CAGAGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCT GGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGATTCAAG AGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGC CTTCGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATC AAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAG CCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAG AATCAAGAGCAAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGG ACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCT GTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01884.hp2 others(21): Show HG01168.hp2 HG01169.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0031	a0001c0001t0003g0160 a0001c0001t0004g0162 a0001c0001t0004g0164 others(21): Show a0001c0001t0003g0160 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0322 a0001c0001t0006g0031 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0007g0037 a0001c0001t0010g0035 a0001c0001t0010g0038 a0001c0001t0012g0154 a0001c0001t0012g0155 a0001c0001t0020g0034 a0001c0001t0021g0185 a0001c0001t0028g0033 a0001c0001t0031g0161	24	350	0.0686	-414	c.143 others(17): Show c.143-5543_143-5130del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	612374	TTCAAGAG others(407): Show TTCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGAC AGCCGCCTTCGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGT AGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACG GGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGG CCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAG CAAGGGACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCTGCCC TGGCCTGTAGCATCAAGAGCAAGGGACAGCCGCCCTGGCCTGTAGAATCA AGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCG CCCTGGCCTGTAGAA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01884.hp2 others(25): Show HG01168.hp2 HG01169.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp1 NA18906.hp2 NA18950.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0031	a0001c0001t0002g0235 a0001c0001t0003g0160 a0001c0001t0004g0162 others(25): Show a0001c0001t0002g0235 a0001c0001t0003g0160 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0322 a0001c0001t0006g0031 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0007g0037 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0010g0035 a0001c0001t0010g0038 a0001c0001t0012g0154 a0001c0001t0012g0155 a0001c0001t0020g0034 a0001c0001t0021g0185 a0001c0001t0028g0033 a0001c0001t0031g0161	28	350	0.0800	-414	c.143 others(17): Show c.143-4651_143-4238del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	612659	CAGGGACA others(407): Show CAGGGACAGCTGCCCTGGCCTGTAGCATCAAGAGCAAGGGACAGCCGCCC TGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAA GAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGC CCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTCGCCTGTAGAAT CAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAG CCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTA GAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGG ACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCT GTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp1 NA20905.hp2 HG03688.hp1 HG03927.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0229 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0229	3	350	0.0086	-414	c.143 others(17): Show c.143-4539_143-4126del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RNF213_chr17_80255852_80403794	80314364	ATGGCGGT others(407): Show ATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGT GGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGG TGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTA ATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGAT GGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGG TGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTG GAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGG AGGTGATGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02970.hp2 HG02257.hp2 HG02630.hp1 HG02970.hp2	a0002 a0014 a0023 a0002 a0014 a0023	a0002c0099 a0014c0118 a0023c0088 a0002c0099 a0014c0118 a0023c0088	a0002c0099t0058 a0014c0118t0057 a0023c0088t0013 a0002c0099t0058 a0014c0118t0057 a0023c0088t0013	a0002c0099t0058g0255 a0014c0118t0057g0167 a0023c0088t0013g0165 a0002c0099t0058g0255 a0014c0118t0057g0167 a0023c0088t0013g0165	3	292	0.0103	-414	c.281 others(19): Show c.2811+1201_2811+1614del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	CCCTGGCT others(407): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGG CTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCT GGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0084 a0001c0007t0084	a0001c0007t0084g0007 a0001c0007t0084g0007	1	196	0.0051	-414	c.655 others(17): Show c.655-9507_655-9094del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1060985	CACTGCAC others(407): Show CACTGCACCTGCCGTGCAGGATCCCTGAGTCTCACCCGCCGCACCCGCCG TGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCCGCACCTGCCGCATCC GCCATGCGGAACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGACCC CTGCGTCTCACCCGCCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCA CCGCACCCGCCGTGCGGGATCCCTGCGTCTCACCCACCGCACCCGCCGTA CCTGCCGCATCCGCCATGCGGAACCCCTGCGTCTCACCCACCGCACCTGC CGTGCAGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTGCGGGATCCCT GAGTCTCACCCGCCGCACCCGCCGTGCGGGATCCCTGAGTCTCACCCGCC GCACCCGCCGTACCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0020 a0001c0018t0020	a0001c0018t0020g0076 a0001c0018t0020g0076	1	118	0.0085	-414	c.274 others(17): Show c.2740-948_2740-535del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SYCE2_chr19_12893786_12924293	12912028	CCCGGGTT others(407): Show CCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCAAGTAGCTAGGATTA CAGGTGCCCACCACTGCACCCAGCTAACTTTTGTATTTTTAGTAGAGACA GGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATC TGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAA GCCCGATCTAGCCTTACTGTTTTCTACAGCCCCTCCATCTGCAGCAATTG GGGACCTACCACAATTTCCCCAAACATGTCAGCCTTTGCCTGGAATGACT TTCCCTTCCTGCCTCCTTCATAATGGAACATTTGGAACTTTTGCTTCTCT ACCCCCCGCTATACCTAGGCCTTGCTGGTCACAAAGCTGCCAAAGTTTAT GAACATCAGTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02809.hp1 others(2): Show HG02055.hp2 HG02572.hp2 HG02809.hp1 HG02818.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0071 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0071 a0001c0001t0001g0102 a0001c0001t0001g0103	5	378	0.0132	-414	c.131 others(17): Show c.131+5780_131+6193del	SYCE2	ENSG00000161860.8	transcript	ENST00000293695.8	protein_coding	2/5			chr19	TogoVar
TRPS1_chr8_115403496_115673975	115608544	TATGAAAA others(407): Show TATGAAAAGATACATTATTTAACCTCTTGGAACCTTAGTCTCCTGGCCTC TATGGATACAATACTGTACAACTTGTCATTTTATAGGATTATCGTGAGGA TCAAGTGAGAACTATGGATTTGTGCTGTCCAATAGTACTTCCTGAGATGA TAAAAATGTTCCATAGCCTTCCTTGGCCAATATGGTAGCCACTAGCCACA AGTAGGCTTAGTAAAAATGAAGAACTGTTTTTTAAATTTACTTTCATATA TTTTTCTCAGCATTTCACTAATTTATTTGTAATTAACTGAAATGTATTTA TTTTAAAAATTTCTTTTTTAGAGGCAGGGTCTCAGTCTGTCACCCAGGCT GGAGTGCAATGTCACGATCTCCGCTCACTGTCACCTCTGCCTCCTGGGCT CAAGTGAATCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0073 a0001c0002t0073	a0001c0002t0073g0142 a0001c0002t0073g0142	1	192	0.0052	-414	c.967 others(17): Show c.967-3956_967-3543del	TRPS1	ENSG00000104447.13	transcript	ENST00000395715.8	protein_coding	3/6			chr8	TogoVar
USP40_chr2_233470526_233571782	233567560	CTATATAA others(407): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0022 a0015c0031t0022	a0015c0031t0022g0283 a0015c0031t0022g0283	1	324	0.0031	-414	c.-13 others(10): Show c.-1310_-897del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		779		chr2	TogoVar
ZC3H3_chr8_143432659_143546447	143487972	GACACAGA others(407): Show GACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCAGACA CAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCACACACAGA ACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCACACACAGAACAG CACCCGCTCCACGACCCCATCACCACGAAGCTCACACACAGAACAGCACC CGCTCCACGACCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCT ACACAGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACAC GGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCC CCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCAT CACCACGAAGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG03139.hp1 HG01884.hp2 HG02647.hp1 HG03139.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0162 a0007c0018t0001g0163 a0007c0018t0001g0164 a0007c0018t0001g0162 a0007c0018t0001g0163 a0007c0018t0001g0164	3	352	0.0085	-414	c.171 others(21): Show c.1716-12801_1716-12388del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar

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Search Results (Total: 10000 hits)