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
GALNT9_chr12_132191372_132334589	132242474	CCCCTTCC others(443): Show CCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACACCCCCT TCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCG GGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCC CTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCC TATACCCATTACACACACGCCATACCCCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACGCCGCACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACA CACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGC CGCACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACAACACAC A	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0175 a0001c0009t0002g0175	1	183	0.0055	-450	c.107 others(19): Show c.1077+4986_1077+5435del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132160573	TGGGGGGT others(443): Show TGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGGGGGTCTCCCTGTGTGAT GCTGGGGGGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTACTTCTATG TCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCT GTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCC TGTGTGATGCTGGGGGGGGGGTCTCCCTGTGTGATGCTGGGGGGGGCCTC TTCCTGTGTGATGCTGGTGGGGGTCTACTTCTATGTCTTACTGGGGGGGG CCTCTCCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTAGGG GGTCTCTTCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGG TGGGCCTCTCCCTGTGTGATGCTGGGGGGGGCCTCTCACTGTGTGATGCT G	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0149 a0001c0006t0003g0149	1	158	0.0063	-450	c.222 others(19): Show c.2221-2629_2221-2180del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KLK4_chr19_50901351_50916395	50914030	CTCTCTCT others(443): Show CTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCCGCACCT GTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCT CTCTGTCTGTCTCTGCACCTGTGTCTGTCCATCTTTCTCTGTGTCTCTCT CCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCACCTGTGTGT CTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCTCT CTGTCTGTGTCTCCGCACCTGTGTCTCTGTCCATCTTTCTCTGTGTCTCT CTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGGCTTCGCACAT GTCTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGTCTCT GTCTCTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTTCTCTGT G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG02258.hp1 others(8): Show HG01346.hp2 HG01361.hp2 HG02258.hp1 HG02615.hp1 HG02615.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG06807.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0002c0003t0004 a0002c0003t0005	a0001c0001t0001g0019 a0001c0001t0002g0059 a0001c0001t0003g0027 others(4): Show a0001c0001t0001g0019 a0001c0001t0002g0059 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0002t0004g0034 a0002c0003t0004g0007 a0002c0003t0005g0139	11	414	0.0266	-450	c.-31 others(11): Show c.-3153_-2704del	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		2636		chr19	TogoVar
NKD2_chr5_1003802_1043943	1023488	TGTGGGCG others(443): Show TGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCATTGCCCCTGCTCTTCCCACCCTCTGTG GGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCA GCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGT CCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCT TCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACTCT C	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0149 a0001c0001t0014g0149	1	319	0.0031	-450	c.142 others(17): Show c.142-8663_142-8214del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1024554	TGTGGGCG others(443): Show TGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCAT CCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCT TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCA CCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCA GCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGT CCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCT TCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCG C	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	319	0.0031	-450	c.142 others(17): Show c.142-7597_142-7148del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(443): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA C	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0100 a0001c0001t0009g0100	1	254	0.0039	-450	c.292 others(19): Show c.292-25082_292-24633del	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
RBFOX3_chr17_79084345_79616051	79512091	AGTACAGC others(443): Show AGTACAGCCCCATGGCCAGGGGACACCCACCCAGATACATGTTACCATTG GGTACAGCCCCATGGCCAGGGGACACCCACCCGGATACATGTTACCATCG GATATAGCCCCATGGCCAGGGGACGCACACCCGGATACATGTTACCATCG AGTACAGTCCTATAGCCAGGGGATATACACCCGGATACATATTACCATCG GGTACAGCCCCATGGCCAGGGAACACCCACCCGGATACGTGTTACCATCG GATACAGCCCCATGGCCAGGGGACACCCACCCGGATACATGTTACCATCG GGTACAGCCCCATAGCCAGGGGACGCACACCTGGATACATGTTACCATCG AGTACAGTCCTATAGCCAGGGGATATACACCCGGATACATATTACCATCG AGTACAGCCCCATGGCCAGGGGACACCCACCCAGATACATGTTACCATCG G	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	154	0.0065	-450	c.-31 others(21): Show c.-319-29943_-319-29494del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RNF223_chr1_1065967_1079306	1076743	GCTACGGG others(443): Show GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCCG GGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGA CTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAG T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0018 a0009c0009t0018	a0009c0009t0018g0048 a0009c0009t0018g0048	1	324	0.0031	-450	c.-31 others(11): Show c.-3187_-2738del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2438		chr1	TogoVar
RPTOR_chr17_80539838_80971368	80743854	GAGCCCTG others(443): Show GAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACG AGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGC TACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCC TGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACA GCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAG CACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTA CTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT CCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCA C	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0019 a0001c0028t0019	a0001c0028t0019g0024 a0001c0028t0019g0024	1	196	0.0051	-450	c.655 others(18): Show c.655-10147_655-9698del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133668415	TCCCTCTC others(443): Show TCCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCT CCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTA CCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCC CTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCT CTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCT CCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCATCT C	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA20752.hp2 HG02074.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0028 a0001c0001 a0003c0028	a0001c0001t0001 a0003c0028t0001 a0001c0001t0001 a0003c0028t0001	a0001c0001t0001g0186 a0003c0028t0001g0110 a0001c0001t0001g0186 a0003c0028t0001g0110	2	262	0.0076	-450	c.249 others(19): Show c.2495+1719_2496-1546del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCML4_chr6_107697154_107829313	107710747	CTATAAAA others(443): Show CTATAAAACACCTCGTTGAGCTGTTGCAAGAATTAAATGGCATAATGTTG TAAAGCATTAAACAGGATTACTCATTAGGTAGTTGCTGTTCTTCTTATTA TGATGATGTCATTCCATAAATGGCCAGTAGATTTGTTTTCCTAAATCCCA GGGCCACCAGCTCACTCCCCTGTTCAGAAATGTCTGGTTTACAGTTACTA CAGAGCAAAGTCCCATCTGCTTGAAATGGATCCCAAACCTCCCAGCATGG TTTCCCTGGTGTCCCTGCACAAACTCTTTTTTTTTTTTTGAGATGAAGTC CCGCTTTGTCACCCAGGCTGCAGTGCAGTGGCATGATCTTGTTCACAGCT CTGTCCTCAGATGTGAGAAGAGCCCCTGGCACACTGTGCCCAGGAAGTCT CTGCTGGCTAGGACCAACCAAAACCTGAGTCTTAACTGCCTGCTCTATAA A	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(179): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0002c0004 a0002c0014 a0002c0016 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0002t0009 a0001c0002t0010 a0001c0003t0012 a0001c0003t0015 a0001c0005t0005 a0001c0005t0011 a0001c0005t0017 a0001c0005t0018 a0001c0005t0030 a0001c0008t0001 a0001c0008t0008 a0001c0009t0001 a0001c0009t0006 a0001c0011t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0009 a0002c0004t0014 a0002c0004t0020 a0002c0004t0028 a0002c0014t0011 a0002c0016t0011 a0004c0013t0006	a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0070 others(179): Show a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0126 a0001c0001t0003g0189 a0001c0001t0004g0054 a0001c0001t0004g0110 a0001c0001t0004g0146 a0001c0001t0004g0172 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0196 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0233 a0001c0001t0004g0246 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0046 a0001c0001t0006g0053 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0071 a0001c0001t0006g0077 a0001c0001t0006g0094 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0122 a0001c0001t0006g0138 a0001c0001t0006g0157 a0001c0001t0008g0169 a0001c0001t0008g0176 a0001c0001t0008g0183 a0001c0001t0008g0190 a0001c0001t0008g0203 a0001c0001t0008g0213 a0001c0001t0008g0223 a0001c0001t0008g0226 a0001c0001t0008g0229 a0001c0001t0008g0239 a0001c0001t0008g0244 a0001c0001t0010g0083 a0001c0001t0010g0084 a0001c0001t0013g0011 a0001c0001t0013g0050 a0001c0001t0013g0068 a0001c0001t0013g0118 a0001c0001t0013g0120 a0001c0001t0013g0124 a0001c0001t0013g0156 a0001c0001t0014g0009 a0001c0001t0014g0042 a0001c0001t0014g0125 a0001c0001t0014g0128 a0001c0001t0019g0075 a0001c0001t0019g0137 a0001c0001t0021g0013 a0001c0001t0023g0112 a0001c0001t0024g0088 a0001c0001t0025g0119 a0001c0001t0027g0143 a0001c0002t0009g0104 a0001c0002t0010g0008 a0001c0002t0010g0049 a0001c0002t0010g0129 a0001c0002t0010g0134 a0001c0002t0010g0148 a0001c0003t0012g0107 a0001c0003t0012g0130 a0001c0003t0012g0131 a0001c0003t0012g0132 a0001c0003t0012g0133 a0001c0003t0012g0135 a0001c0003t0012g0136 a0001c0003t0012g0144 a0001c0003t0015g0123 a0001c0003t0015g0160 a0001c0003t0015g0161 a0001c0003t0015g0162 a0001c0005t0005g0181 a0001c0005t0011g0061 a0001c0005t0011g0081 a0001c0005t0011g0098 a0001c0005t0011g0099 a0001c0005t0011g0102 a0001c0005t0011g0171 a0001c0005t0017g0195 a0001c0005t0017g0224 a0001c0005t0018g0205 a0001c0005t0018g0212 a0001c0005t0030g0079 a0001c0008t0001g0003 a0001c0008t0001g0069 a0001c0008t0001g0250 a0001c0008t0008g0111 a0001c0009t0001g0139 a0001c0009t0006g0063 a0001c0009t0006g0066 a0001c0011t0001g0004 a0001c0011t0001g0072 a0002c0004t0001g0020 a0002c0004t0002g0237 a0002c0004t0003g0034 a0002c0004t0003g0090 a0002c0004t0004g0184 a0002c0004t0004g0225 a0002c0004t0004g0236 a0002c0004t0005g0241 a0002c0004t0006g0028 a0002c0004t0009g0095 a0002c0004t0009g0096 a0002c0004t0009g0175 a0002c0004t0014g0019 a0002c0004t0020g0243 a0002c0004t0028g0086 a0002c0014t0011g0027 a0002c0016t0011g0024 a0004c0013t0006g0037	182	250	0.7280	-450	c.974 others(17): Show c.974-3186_974-2737del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	6/7			chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1061002	AGGATCCC others(443): Show AGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTGCGGGATCCCTGAGTC TCACCCGCCGCACCCGCCGCACCTGCCGCATCCGCCATGCGGAACCCCTG CGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCGCCG CACCCGCCGTGCGGGACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGG GATCCCTGCGTCTCACCCACCGCACCCGCCGTACCTGCCGCATCCGCCAT GCGGAACCCCTGCGTCTCACCCACCGCACCTGCCGTGCAGGATCCCTGAG TCTCACCCGCCGCACCCGCCGTGCGGGATCCCTGAGTCTCACCCGCCGCA CCCGCCGTGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTACCTGC CGCATCCGCCATGCGGGACCCCTGCGTCTCACCCACCGCACCCGCCGTGC G	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01106.hp1 others(23): Show HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01517.hp2 HG01993.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG03710.hp1 HG03927.hp1 NA18943.hp1 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA19011.hp1 NA19055.hp1 NA19055.hp2 NA19065.hp1 NA19074.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0009 a0001c0013 others(6): Show a0001c0005 a0001c0009 a0001c0013 a0001c0028 a0002c0002 a0002c0008 a0002c0011 a0002c0024 a0002c0034	a0001c0005t0002 a0001c0009t0002 a0001c0013t0003 others(7): Show a0001c0005t0002 a0001c0009t0002 a0001c0013t0003 a0001c0013t0007 a0001c0028t0002 a0002c0002t0002 a0002c0008t0002 a0002c0011t0002 a0002c0024t0002 a0002c0034t0002	a0001c0005t0002g0043 a0001c0005t0002g0044 a0001c0005t0002g0050 others(23): Show a0001c0005t0002g0043 a0001c0005t0002g0044 a0001c0005t0002g0050 a0001c0009t0002g0114 a0001c0013t0003g0046 a0001c0013t0003g0047 a0001c0013t0007g0101 a0001c0028t0002g0107 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0098 a0002c0002t0002g0102 a0002c0002t0002g0106 a0002c0002t0002g0110 a0002c0008t0002g0062 a0002c0008t0002g0063 a0002c0008t0002g0067 a0002c0011t0002g0030 a0002c0011t0002g0031 a0002c0011t0002g0034 a0002c0024t0002g0060 a0002c0034t0002g0091	26	118	0.2203	-450	c.274 others(18): Show c.2740-1001_2740-552del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071003	CCCCCAGC others(443): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAG TGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCC CCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA G	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0014	1	118	0.0085	-450	c.224 others(19): Show c.2241+2180_2241+2629del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
VPS53_chr17_503668_719839	617527	AGGTAGCT others(443): Show AGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC GGGTAGCTGGGACTACAGGCGTGCGCCATCAGGCCCCGCTATTATTTCCC AGGTAGCTGGGACTACAGGCATGCACCACCACGCCCCACTAATATTTCCC GGGTAGCTGGGACTACAGGCATGCGCCATCAGGCCCCGCTATTATTTCCC AGGTAGCTGGGACTACAGGCATGCGCCACCACGCCCCACTAATATTTCCC GGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC GGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC GGGTAGCTGGGACTACAGGCGTGCACCACCACGCCCCACTAATGTTTCCC GGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC G	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0016 a0003c0004t0006g0016	1	232	0.0043	-450	c.111 others(19): Show c.1116+5556_1116+6005del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
AFAP1L2_chr10_114289824_114409502	114305866	GCAGGAGG others(442): Show GCAGGAGGGGGCGCAGGGGCAGGAGGGGACGCGGGTGCAGGAGGGGACAC AGGTGCAGGAGGGGACGGGGCTGCAGGAGGAGATGCAGATGCAGGGGGGG TGCAGGTACAGGAGGGGTCGGGGCTGCAGGAGGGGACGCAGATGCAGGAG GGGACGCAGATGCAGGAGGGGACACAGATGCAGAAGGGGGCGCAGATGCA NGAAGCGACGGGGCTGCAGAAGGAGATGCAGATGCAGGAAGGGATGCAGA TGCCTGGAGGGATGCAGGTGCAGGAGGGGACGGGGCTGCAGGACGGGATG GGGCTGCAGGAGGGAGCGGGGCTGCAGGAGGGGATGGGGCTACAGGAGGA GATGCAGATGCAGGAGGGGGTGCACGTACAGGACTGGTCGGGGCTGCAGG AGGGGACGCAGATGCAGGAGGCGTCGGGGCTGCAGGAGGGGACGCAGATC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0207 a0003c0007t0006g0207	1	262	0.0038	-449	c.107 others(18): Show c.1073-1385_1073-937del	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	10/18			chr10	TogoVar
AHRR_chr5_316714_443285	391488	GGGCGCAG others(442): Show GGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGG CGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGC GCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCG CAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGC AGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCA GGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAG GGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0148 a0001c0001t0013g0148	1	268	0.0037	-449	c.351 others(19): Show c.351+14782_351+15230del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DIP2C_chr10_269201_694668	417746	TCGGATAG others(442): Show TCGGATAGGCATCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCT CCCTGTCCACCTGTTCCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCT GCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGG GCTCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGC CTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCAC CTGCACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGTTCCTGTCA GGGCTTCGATAGGCCTCCCTGTTCACTGCACCTGTCAGGCCTCAGATAGG CATCCCCGTCCACCTGTCGGAGCTCGGATAGGCCTCCCTGTCCACCTGCA CCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0010 a0001c0005t0002g0010	1	88	0.0114	-449	c.739 others(16): Show c.739+870_739+1318del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
ERC1_chr12_986223_1500931	1090383	TATTATTG others(442): Show TATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTGTGCCTGGCCCATTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02615.hp1 others(7): Show HG01884.hp1 HG01891.hp2 HG02615.hp1 HG02647.hp2 HG02809.hp1 HG02970.hp1 HG03579.hp1 HG06807.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0007c0012 others(1): Show a0001c0001 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0002c0002t0017 a0002c0002t0048 a0002c0002t0064 a0002c0002t0065 a0002c0002t0075 a0007c0012t0073 a0008c0011t0044	a0001c0001t0001g0080 a0001c0001t0004g0075 a0001c0001t0019g0120 others(7): Show a0001c0001t0001g0080 a0001c0001t0004g0075 a0001c0001t0019g0120 a0002c0002t0017g0097 a0002c0002t0048g0070 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0075g0073 a0007c0012t0073g0067 a0008c0011t0044g0068	10	162	0.0617	-449	c.108 others(19): Show c.1086+6810_1086+7258del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
MDFI_chr6_41633468_41659244	41651096	ACTCCGGA others(442): Show ACTCCGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCCGAGATTGCAC TCCAGCCTGGGCAACAAGAGCAAAACTTTGTCTCAAAGAAAAATAAAATG AAATGTCCTAGGCACCTGCTATGTGCTGGAAACCTGGTTCATGACCTCAT AAAGCTCTCATGAGAGACGTAGATAGGTAATCGCCATACGATGTGATAAG TGCAATGATAAACTCATGCAGAGGATTACGCAAACACAGGGGGACCACTC ACACCAGCCCAGAAATCTGGGGAGGGAATCCTGGGAAGGCTTGGAGGTGA TGTCTGAACATGCCTTAAAAGACCAGAAGGAGGCTCCAGCCAGGAGAGCA TGCGCACAGAGCTGAGAAATGGCCAGTGTGGCTGGAGGGTGAACTGCCAA AGGTGAGACTCCTAGCAGGCAGGGGTCCTGGGAGGTCCTTACCAACCAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00738.hp2 others(30): Show HG00423.hp1 HG00544.hp2 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18950.hp2 NA18961.hp2 NA18963.hp1 NA19043.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0003c0005t0008	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0069 others(22): Show a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0216 a0001c0001t0001g0252 a0001c0001t0001g0273 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0002g0013 a0001c0001t0002g0067 a0001c0001t0002g0142 a0001c0001t0002g0208 a0001c0001t0003g0302 a0001c0001t0020g0278 a0003c0005t0008g0077 a0003c0005t0008g0317	33	462	0.0714	-449	c.484 others(17): Show c.484+1255_484+1703del	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MLPH_chr2_237482251_237560322	237542943	GACAGTGG others(442): Show GACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGG GGCACAGTGGTGAGTGGAGACAGTGGTGAGTTGGGGGACAGTAGTGAGTG GGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAGTGAG TAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTG AGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACAGTAG TGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGGGACAGT GGTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGAC AGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	286	0.0035	-449	c.153 others(17): Show c.1539+300_1539+748del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241806596	TCCGCAGG others(442): Show TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0193 a0008c0014t0003g0193	1	319	0.0031	-449	c.-26 others(11): Show c.-2681_-2233del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2596		chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31510970	AACATATG others(442): Show AACATATGTATATCTATATGTAACATATGTATATCTATATGTAACATACA TGTATATCTATATGTAACATACATGTATATCTATATGTAACATACATATA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACACACATATGTATATCTATATGTAACACACA TACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATATATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACACAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0015 a0001c0001t0009g0015	1	244	0.0041	-449	c.894 others(17): Show c.894-7601_894-7153del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RASGRF1_chr15_78954906_79095780	78970478	CATGGTCC others(442): Show CATGGTCCTAAGGACAAAGTCCCTGATCCCAGCTATGCGGGAGGCTGAGA CAGAAGAATTGATTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATT GTACCACTGCAGTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAA AAAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAGAAAAGTCATAGGAT TGGGAGCCCAAGAGTCTGGGTTAGCAAATCTGTTATTTTATCTGTAAAAT GGGGCCTACAGTACAGGCTTTGAATAATGTAATGAGACTAACATGCCAAC CATTCTTTTTTATTAAACAATTTTTTTTTCTTTTTGGCTAGCTGAGACTT TTTTTTTTTTTTTTCAGACCAACCATTCTCTTACATGGCCTTGCAAATCT TTTAAAAATGCAAACTAGTCCAATTATATAACCTCCTTTCAGGGCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	314	0.0032	-449	c.368 others(18): Show c.3681+939_3681+1387del	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	26/26			chr15	TogoVar
SDHA_chr5_213320_262082	261382	GCCTCCCG others(442): Show GCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCT CCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01517.hp2 others(1): Show HG01243.hp1 HG01256.hp1 HG01517.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0007 a0001c0001t0003g0090 a0001c0001t0003g0091	4	266	0.0150	-449	c.49 others(11): Show c.4963_*5411del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4301		chr5	TogoVar
SMYD3_chr1_245744347_246512279	246071835	TCCTGTTA others(442): Show TCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGT CGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGC TCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCC ACTGTGCTCACTGTGGATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTG CTTTCCGCTGTGCTCACTGTGGATGCATCGTGTAGTTCTGGGGAGGGATT CGTGTGCTTTCCGCTGTGCTCACTGTGGATGCATCGTGTTAGTTCTGGGG AGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGT TCGGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCC TGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0113 a0002c0004t0001g0113	1	150	0.0067	-449	c.532 others(21): Show c.532-142347_532-141899del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129856463	GGAGTCCG others(442): Show GGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGAT GGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTC CAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0077 a0001c0002t0004g0077	1	94	0.0106	-449	c.79+ others(17): Show c.79+46349_79+46797del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TSPAN14_chr10_80449310_80527631	80482350	AATCTCAG others(442): Show AATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTG CCTCAACCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGACCAGG CTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAG AGTGCTGTGATTATAGGCATGAACCACTGTGCCCGGCCTCCACAAAACTC ATTTTAGTTGTGCATGTGAGTGTGCGTGTGCACTGGATTGACTTTTGTTA AATGTATTTCTTACTATGGGTTGTGATAAGATTTGAAAACCCTTGTTTAG TGGTTTCTCATTGTCAGTTCACTTTTCTTTTCCTTTTTTTTTTTTTTTTT TTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02970.hp2 HG02976.hp1 others(4): Show HG01433.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0013 a0001c0001t0019	a0001c0001t0013g0089 a0001c0001t0013g0090 a0001c0001t0013g0091 others(4): Show a0001c0001t0013g0089 a0001c0001t0013g0090 a0001c0001t0013g0091 a0001c0001t0013g0117 a0001c0001t0019g0111 a0001c0001t0019g0118 a0001c0001t0019g0216	7	252	0.0278	-449	c.-17 others(17): Show c.-17-6861_-17-6413del	TSPAN14	ENSG00000108219.16	transcript	ENST00000429989.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR20_chr14_102134897_102215527	102172218	TGGGGGGT others(442): Show TGGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTC TTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTGCTTCTTTCCACACA GACACAGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTT TCTATTCCACAAAACCACCATTGTCATCATGGCCCGTTCTCAATGAGCTG TTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCTGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG04115.hp1 NA21309.hp1 HG00140.hp1 HG04115.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257	3	264	0.0114	-449	c.250 others(19): Show c.250-22719_250-22271del	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2			chr14	TogoVar
ABR_chr17_998519_1184981	1131492	CCTTTGCA others(441): Show CCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCTCTTT GCACACCAAATGCAGTGCCTGCCACGCACACAGCTCCCCCCTTTGCACAC CAAATGCAGTGCCTGACACGCACACAGCTCCCCCCTTTGCACACCAAATG CAGTGCCTGACACGCACACAGCTCCCCCTTTGCACACCAAATGCAGTGCC TGCCACGCGCACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGCCAC GCGCAGAGCTCCCCCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGC ACAGCTCCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGC TCCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCC CCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	337	0.0030	-448	c.62- others(15): Show c.62-6573_62-6126del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
CTDP1_chr18_79674803_79759503	79745511	CCCCGCGT others(441): Show CCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCC CTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCC GCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCT GTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCG CGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCC CGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGT CCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18943.hp1 NA18950.hp2 others(3): Show HG02080.hp2 NA18943.hp1 NA18950.hp2 NA18961.hp2 NA18968.hp2 NA19007.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0003 a0003c0005 a0014c0034 a0001c0003 a0003c0005 a0014c0034	a0001c0003t0001 a0003c0005t0002 a0014c0034t0002 a0001c0003t0001 a0003c0005t0002 a0014c0034t0002	a0001c0003t0001g0054 a0001c0003t0001g0055 a0003c0005t0002g0123 others(3): Show a0001c0003t0001g0054 a0001c0003t0001g0055 a0003c0005t0002g0123 a0003c0005t0002g0127 a0003c0005t0002g0128 a0014c0034t0002g0122	6	378	0.0159	-448	c.274 others(19): Show c.2748-8121_2748-7674del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DNHD1_chr11_6492280_6577020	6551833	CGGGAGGC others(441): Show CGGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAAGTTGCG GTGAGCTGAGATTTGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGAC TCCGTCTCCAAAAAAAAAAAGGGGAGCCAGGCATGGTGGCATGCACCTGT AATCCCAGCTACTAGGGAGGGAGGCTTAGGCAGGAGGATTTCTTAAGGCC AGGAGTTCAAGACCAGCCTGGGCAGCATAGTGGGACCCTCATTTAAAAAA AAAAGTTTTAAAAAATGGATAATAAGGGAAAATTATGAAAAACTTTATGC TAATAAATTTAGCAACTTAGGTGAAATGGATACATGCTGTATTAGTCTGT TTTCACACTGCAATAAAGAACTACTTGAGACTGGGTAATTCATAAAGAAA AGAGGGTTAGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01943.hp2 HG02257.hp2 others(17): Show HG01358.hp1 HG01943.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG04184.hp2 HG04204.hp1 NA19043.hp1 NA20129.hp1	a0009 a0012 a0015 others(7): Show a0009 a0012 a0015 a0021 a0024 a0030 a0051 a0053 a0071 a0095	a0009c0102 a0012c0006 a0012c0070 others(9): Show a0009c0102 a0012c0006 a0012c0070 a0015c0029 a0015c0068 a0021c0017 a0024c0020 a0030c0027 a0051c0081 a0053c0083 a0071c0075 a0095c0120	a0009c0102t0001 a0012c0006t0001 a0012c0070t0001 others(9): Show a0009c0102t0001 a0012c0006t0001 a0012c0070t0001 a0015c0029t0001 a0015c0068t0001 a0021c0017t0001 a0024c0020t0001 a0030c0027t0001 a0051c0081t0001 a0053c0083t0001 a0071c0075t0001 a0095c0120t0002	a0009c0102t0001g0201 a0012c0006t0001g0325 a0012c0006t0001g0326 others(17): Show a0009c0102t0001g0201 a0012c0006t0001g0325 a0012c0006t0001g0326 a0012c0006t0001g0328 a0012c0006t0001g0330 a0012c0006t0001g0331 a0012c0006t0001g0332 a0012c0070t0001g0267 a0015c0029t0001g0269 a0015c0029t0001g0308 a0015c0068t0001g0268 a0021c0017t0001g0249 a0021c0017t0001g0250 a0021c0017t0001g0251 a0024c0020t0001g0312 a0030c0027t0001g0205 a0051c0081t0001g0235 a0053c0083t0001g0212 a0071c0075t0001g0324 a0095c0120t0002g0064	20	342	0.0585	-448	c.738 others(19): Show c.7387+2917_7387+3364del	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	24/42		INFO_REALIGN_3_PRIME	chr11	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	GTGTCACT others(441): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0223 a0001c0001t0223	a0001c0001t0223g0177 a0001c0001t0223g0177	1	276	0.0036	-448	c.35 others(9): Show c.355_*802del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	355		chr2	TogoVar
LETMD1_chr12_51043327_51065424	51044307	TGGCCTCC others(441): Show TGGCCTCCCAAAGTGCTGGGATTACAGGCATGGACCACTGCGCCAAGCCT AAGTTTTATATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTA GTCTTGAACTCCTGACCTCAGGTGATTTGCCTGCCTCAGCTTCCCAAAGT GCTGGGATTACAGGTGTGAGTCACTGTGCCCAGCCCACAGCCTTTTGTTT GTTTGTTTTTTGAGACACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAA TGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAAGTTAAAGTGATT CTCCTGCCTCAGCCTCCTGAGTAGCTGCAGCTGGGATTATAGGCACGCAC CACCATGCCCGGCTAATTTTTGTATTTTTAGAAGAGATGGGGTTTCACCA TGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATTCGCCCGCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1 HG00140.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069	3	416	0.0072	-448	c.-40 others(11): Show c.-4049_-3602del	LETMD1	ENSG00000050426.16	transcript	ENST00000262055.9	protein_coding		4019		chr12	TogoVar
LYRM4_chr6_5103419_5265950	5134973	GCTCCCGG others(441): Show GCTCCCGGGGCTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTG CGGATCGCTCCCGGGGCTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGG AGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGA CTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTC CCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGT TCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGG TGCGGATCGCTCCTGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGACTGT GGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGG GGCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01069.hp1 others(41): Show HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01515.hp2 HG01884.hp1 HG01952.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0002c0002t0005 others(2): Show a0001c0001t0004 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009	a0001c0001t0004g0041 a0001c0001t0004g0046 a0001c0001t0004g0047 others(41): Show a0001c0001t0004g0041 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0065 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0111 a0001c0001t0004g0180 a0001c0001t0004g0181 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0013 a0002c0002t0004g0020 a0002c0002t0004g0021 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0004g0029 a0002c0002t0004g0030 a0002c0002t0005g0242 a0002c0002t0005g0244 a0002c0002t0005g0246 a0002c0002t0005g0265 a0002c0002t0005g0270 a0002c0002t0005g0278 a0002c0002t0005g0279 a0002c0002t0008g0213 a0002c0002t0008g0221 a0002c0002t0008g0248 a0002c0002t0008g0250 a0002c0002t0008g0251 a0002c0002t0008g0260 a0002c0002t0008g0266 a0002c0002t0008g0267 a0002c0002t0008g0276 a0002c0002t0009g0280 a0002c0002t0009g0281 a0002c0002t0009g0282 a0002c0002t0009g0283 a0002c0002t0009g0285	44	286	0.1539	-448	c.208 others(19): Show c.208-25930_208-25483del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
LYRM4_chr6_5103419_5265950	5135057	GCTCCCGG others(441): Show GCTCCCGGGACTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTG CGGATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGG AGGGTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGG CTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTC CCGGGACTGTGGAGGGTGCGGATCGCTCCTGGGGCTGTGGAGGGTGCGGT TCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGG TGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGT GGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGG GACTGTGGAGGGTGCGGATCGCTCCTGGGGCTGTGGAGGGTGCGGTTCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01081.hp1 others(40): Show HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01192.hp2 HG01243.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02451.hp1 HG02559.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18993.hp1 NA19003.hp1 NA19043.hp1 NA19065.hp1 NA19078.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010 a0002c0002t0020	a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0049 others(40): Show a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0122 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0185 a0001c0001t0004g0178 a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0179 a0001c0001t0011g0060 a0001c0001t0011g0172 a0001c0001t0011g0177 a0001c0001t0012g0173 a0001c0001t0012g0182 a0001c0001t0017g0192 a0002c0002t0002g0019 a0002c0002t0002g0026 a0002c0002t0005g0230 a0002c0002t0005g0245 a0002c0002t0005g0253 a0002c0002t0005g0254 a0002c0002t0006g0203 a0002c0002t0006g0271 a0002c0002t0009g0284 a0002c0002t0010g0187 a0002c0002t0020g0286	43	286	0.1504	-448	c.208 others(19): Show c.208-26014_208-25567del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(441): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG02922.hp1 others(6): Show HG00099.hp1 HG00642.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03225.hp2 HG03540.hp1 NA19012.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0131 a0001c0001t0001g0184 a0001c0001t0001g0185 others(6): Show a0001c0001t0001g0131 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0217 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0003t0001g0039	9	264	0.0341	-448	c.141 others(21): Show c.1416+10332_1417-10745del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
P2RX5_chr17_3668227_3701155	3685658	CCCAGCCT others(441): Show CCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAA CACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCC CAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGC CCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18978.hp2 NA19003.hp1 others(1): Show NA18957.hp2 NA18978.hp2 NA19003.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0001c0001t0001 a0001c0003t0001 a0002c0002t0002	a0001c0001t0001g0094 a0001c0001t0001g0331 a0001c0003t0001g0285 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0331 a0001c0003t0001g0285 a0002c0002t0002g0019	4	362	0.0111	-448	c.981 others(17): Show c.981+1906_981+2353del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PCDH15_chr10_53797771_54806231	54133924	ACATTTTG others(441): Show ACATTTTGTACAAACATACCACCACTGCCTAAGATGTATGCTTTGAATTT AACAAAGTCATGATTTAGTTCAAAACACATTTGTTATAATTTCTATTTGG GGATGAGAATCTTTATTTATTTATTTATTTATTTATTTGAGACGGAGAGT TGCTCTCCAGCCCAGGCTGGAGTGCAGTGGCATGATCTTTGCTCATTGCA ACCCCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGCCTGTGTCAAAATATCTGGCTAATTTTTGTATTTTC AGTGGAGATGGGTTGTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGAC CTCAGGTGATCCACCCTCCTCAACCTCCCAAAGTGCTGGGATAACAGGTA TGAGCACCACACCTGGCCTAGAATCTCCTTAAAGTAGTCCCAAACTCTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01167.hp2 others(17): Show HG00738.hp2 HG00741.hp1 HG01167.hp2 HG01175.hp2 HG01261.hp1 HG02027.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp1 HG02922.hp2 HG02965.hp1 HG03209.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp2 NA18945.hp1 NA18945.hp2 NA19088.hp2 NA20905.hp2	a0001 a0004 a0006 others(7): Show a0001 a0004 a0006 a0008 a0009 a0011 a0013 a0018 a0019 a0025	a0001c0001 a0004c0004 a0006c0006 others(7): Show a0001c0001 a0004c0004 a0006c0006 a0008c0032 a0009c0008 a0011c0017 a0013c0015 a0018c0037 a0019c0038 a0025c0030	a0001c0001t0003 a0004c0004t0001 a0004c0004t0002 others(14): Show a0001c0001t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0004t0006 a0004c0004t0025 a0006c0006t0002 a0006c0006t0005 a0006c0006t0006 a0006c0006t0010 a0008c0032t0001 a0009c0008t0001 a0011c0017t0002 a0013c0015t0001 a0018c0037t0013 a0019c0038t0001 a0025c0030t0018	a0001c0001t0003g0015 a0004c0004t0001g0045 a0004c0004t0001g0059 others(17): Show a0001c0001t0003g0015 a0004c0004t0001g0045 a0004c0004t0001g0059 a0004c0004t0002g0096 a0004c0004t0005g0024 a0004c0004t0005g0025 a0004c0004t0005g0057 a0004c0004t0006g0026 a0004c0004t0025g0032 a0006c0006t0002g0050 a0006c0006t0005g0055 a0006c0006t0006g0046 a0006c0006t0010g0030 a0008c0032t0001g0021 a0009c0008t0001g0048 a0011c0017t0002g0072 a0013c0015t0001g0029 a0018c0037t0013g0062 a0019c0038t0001g0040 a0025c0030t0018g0007	20	102	0.1961	-448	c.178 others(18): Show c.1785-1365_1785-918del	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	14/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54133924	ACATTTTG others(441): Show ACATTTTGTACAAACATACCACCACTGCCTAAGATGTATGCTTTGAATTT AACAAAGTCATGATTTAGTTCAAAACACATTTGTTATAATTTCTATTTGG GGATGAGAATCTTTATTTATTTATTTATTTATTTATTTGAGACGGAGAGT TGCTCTCCAGCCCAGGCTGGAGTGCAGTGGCATGATCTTTGCTCATTGCA ACCCCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGCCTGTGTCAAAATATCTGGCTAATTTTTGTATTTTC AGTGGAGATGGGTTGTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGAC CTCAGGTGATCCACCCTCCTCAACCTCCCAAAGTGCTGGGATAACAGGTA TGAGCACCACACCTGGCCTAGAATCTCCTTAAAGTAGTCCCAAACTCTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01175.hp1 others(16): Show HG00738.hp1 HG00741.hp1 HG01175.hp1 HG01261.hp2 HG02027.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp2 HG02922.hp2 HG02965.hp2 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp2 NA18945.hp1 NA18945.hp2 NA19088.hp2 NA20905.hp1	a0001 a0004 a0006 others(5): Show a0001 a0004 a0006 a0007 a0011 a0013 a0016 a0021	a0001c0001 a0004c0004 a0004c0044 others(7): Show a0001c0001 a0004c0004 a0004c0044 a0006c0008 a0006c0042 a0007c0019 a0011c0021 a0013c0017 a0016c0043 a0021c0038	a0001c0001t0001 a0004c0004t0001 a0004c0004t0005 others(8): Show a0001c0001t0001 a0004c0004t0001 a0004c0004t0005 a0004c0044t0001 a0006c0008t0001 a0006c0042t0001 a0007c0019t0001 a0011c0021t0001 a0013c0017t0001 a0016c0043t0004 a0021c0038t0004	a0001c0001t0001g0015 a0001c0001t0001g0021 a0004c0004t0001g0022 others(16): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 a0004c0004t0001g0037 a0004c0004t0001g0042 a0004c0004t0001g0048 a0004c0004t0001g0055 a0004c0004t0005g0029 a0004c0044t0001g0088 a0006c0008t0001g0027 a0006c0008t0001g0043 a0006c0008t0001g0053 a0006c0042t0001g0047 a0007c0019t0001g0045 a0011c0021t0001g0066 a0013c0017t0001g0026 a0016c0043t0004g0058 a0021c0038t0004g0007	19	94	0.2021	-448	c.178 others(18): Show c.1785-1365_1785-918del	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	14/32			chr10	TogoVar
PLCXD1_chrX_276381_308356	277521	TGGACACC others(441): Show TGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGGTCAG GGCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGA TGTGAGGGGAGGGCTCAGGAGGACATGGGGACAGGTGTGGGGACAGGAGT GGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGGTCAGG GCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGAT GTGAGGGGAGGGGTCAGGGCACGTGGGGACAGGAGTGGACACCCCTCAGT GGTCAGGGGACCTGGGATGTGAGGGGAGGGCTCAGGAGGACATGGGGACA GGTGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATG TGAGGGGAGGGGTCAGGGGGAACGTGGGGACAGGTGTGGGGATAGGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(24): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG01346.hp2 HG01993.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG03017.hp1 HG03195.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18906.hp2 NA18955.hp1 NA18956.hp2 NA18992.hp1 NA18998.hp2 NA19006.hp1 NA19070.hp1 NA19081.hp1 NA19081.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0004c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0041 a0001c0001t0045 a0001c0001t0048 a0001c0001t0057 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0092 a0001c0001t0095 a0001c0001t0111 a0001c0002t0049 a0001c0010t0042 a0004c0017t0040	a0001c0001t0001g0005 a0001c0001t0001g0086 a0001c0001t0003g0025 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0086 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0004g0028 a0001c0001t0005g0084 a0001c0001t0005g0096 a0001c0001t0010g0087 a0001c0001t0014g0083 a0001c0001t0016g0082 a0001c0001t0016g0098 a0001c0001t0018g0099 a0001c0001t0041g0164 a0001c0001t0045g0031 a0001c0001t0048g0030 a0001c0001t0057g0055 a0001c0001t0083g0085 a0001c0001t0084g0091 a0001c0001t0085g0090 a0001c0001t0092g0089 a0001c0001t0095g0097 a0001c0001t0111g0014 a0001c0002t0049g0023 a0001c0010t0042g0163 a0004c0017t0040g0165	27	176	0.1534	-448	c.-41 others(11): Show c.-4184_-3737del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3859		chrX	TogoVar
PPARA_chr22_46145526_46248755	46174203	AGAGAGAG others(441): Show AGAGAGAGAGAGAGAGGGAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAATTATGATAAAGCAGATGGTTAAGTT GGTAACTACCAGTGAATATGGGTAAAGTTAGGATGTTCTTTACTCTGTTT TGGGGGTGCAACTTTTCTATAAGTGAAAGTACTTCCAAATAAAAAGTTAA AAGGCAAGCAAATAAATAAAAGAGACAGTTTCTATGTTATATATCCTAGC TATGTTTACCATGTCTGGATTCTGAAAGCTGCAGAGCAGAAAACCTGAAG AACAGATCACCTGTTCTTAAAATACCACTGTTGGCCAGACATAGTAACTC ACTCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACCTGA GCTCAGGAGTTTGAGAACAGCCTGGGAAACATAGTGAGACCCTGTCTCT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0030 a0001c0001t0076g0030	1	200	0.0050	-448	c.-12 others(19): Show c.-126-2549_-126-2102del	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	2/8			chr22	TogoVar
PRDM15_chr21_41793225_41884344	41806309	ACCACCAC others(441): Show ACCACCACCATCACCACCACCACCATCACCATCACCACCACCATCACCAC CACCACCATCACTACCACCATCACCACCACCACCATCACCACCACCACCA CCATCACCACCACCACCATCACCACCACCACCATCACCACCACCCATCAC CATCACCACCAGCACCACCCATTACTACCACCACCATCACCACCATCACC ATCACCACCACCATCACCACCACCATCACTACCACCAACATCACCACCAT CACCATCACCATACCACCACCATCACCACCACCACCATTACTACCACCAC CATCATCACCACCATCATCACCACCACCACCATCACCACCACCATCACCA CCACCACCATCACCATCACCACCACCATCACCACCACCACCCATCACTAC CACCAACATCACCACCATCACCATCACCATACCACCACCATCACCACCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03516.hp1 HG02622.hp1 HG02647.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0117 a0001c0005t0009g0118 a0001c0005t0009g0318 a0001c0005t0009g0117 a0001c0005t0009g0118 a0001c0005t0009g0318	3	406	0.0074	-448	c.265 others(19): Show c.2653-2143_2653-1696del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
RAB40C_chr16_585066_634268	611628	CAGGGACA others(441): Show CAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGAGACAGCCGCCCT GGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAG AGCAGGGACAGCCGCCCTGGCCTGTAGATTCAAGAGCAGGGACAGCCGCC CTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTCGCCTGTAGAATC AAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGC CGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAG AATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGA CAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTTGCCT GTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 NA18906.hp2 HG02622.hp1 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159	3	350	0.0086	-448	c.143 others(17): Show c.143-5543_143-5096del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RNF223_chr1_1065967_1079306	1076227	TGGCTGAG others(441): Show TGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGCTGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGG AGGCTGAGTCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGGCT ATGGTGACTCCGTGCAGGGCTGTGAGGCTACGGGGACTCCGTGGGGGGTG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA21309.hp2 HG02922.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	2	324	0.0062	-448	c.-26 others(11): Show c.-2669_-2222del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1922		chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280986	TCAGTCAC others(441): Show TCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCA GCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCAC CCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCT TCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCT GTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTC ACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACC TCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCAC CTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTC CTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA21309.hp1 HG02071.hp2 NA21309.hp1	a0003 a0009 a0003 a0009	a0003c0001 a0009c0058 a0003c0001 a0009c0058	a0003c0001t0001 a0009c0058t0004 a0003c0001t0001 a0009c0058t0004	a0003c0001t0001g0228 a0009c0058t0004g0263 a0003c0001t0001g0228 a0009c0058t0004g0263	2	280	0.0071	-448	c.484 others(18): Show c.484+9612_484+10059del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDHA_chr5_213320_262082	260529	CAGCATTA others(441): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCG CCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGT GTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT CCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGA GCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	266	0.0038	-448	c.41 others(11): Show c.4110_*4557del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3448		chr5	TogoVar
SDHA_chr5_213320_262082	260817	GAGCATTA others(441): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGC ATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTC CCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGT CACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGA GCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	266	0.0038	-448	c.43 others(11): Show c.4398_*4845del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3736		chr5	TogoVar
SOX5_chr12_23524504_23954670	23837363	ATATATTT others(441): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGATAT ATTTATATTTATATAATATATAAGATATATTTATATTTATATAATATATA AGATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAA TATATAAGATATATTTATATTTATATAATATATAAGCTATATTTATATTT ATATAATATATAAGCTATATTTATATTTATATAATATATAAGCTATATTT ATATTTATATAATATATAAGCTATATTTATATTTATATAATATATAAGC	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0075 a0001c0001t0019g0075	1	212	0.0047	-448	c.481 others(17): Show c.481+8172_481+8619del	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SULT4A1_chr22_43819509_43867513	43834369	GGCCCTGA others(441): Show GGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCA CACCGCGGCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCG CGCCCCCACCGCGGCCCTGAGCTTCCCACGCCCCCACCGCGGCCCTGAGC TTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACACCGCGGCC CTGAGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACC GCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCC CCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCC CGCACCCACACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGT GCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0089	1	386	0.0026	-448	c.509 others(16): Show c.509-1083_509-636del	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6			chr22	TogoVar
THEG_chr19_356747_381026	361272	GTTTGACT others(441): Show GTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCC TACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGT CGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCC CTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGA CGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGT CGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCAGCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0206 a0001c0001t0010g0206	1	370	0.0027	-448	c.48 others(9): Show c.480_*927del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		474		chr19	TogoVar

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Search Results (Total: 10000 hits)