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
TNK2_chr3_195858364_195913551	195874846	CCCCTCGG others(436): Show CCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAGCTCCCCTCGGGAT GGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCC CACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGC ACGCTCGGAGGCACAGGAAGCTCCCCCTCGGGATGGCGCCCACGCACACT CCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGG CACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAG AAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCT CCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACACGAAGCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	372	0.0027	-443	c.125 others(19): Show c.1257-2819_1257-2377del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
ADARB2_chr10_1172313_1742525	1235757	GGGCCCCC others(435): Show GGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCC CACCATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACAT CTATCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATG GCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCT TGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGT CACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTG CATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATG GTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCT GAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0067 a0003c0006t0067	a0003c0006t0067g0080 a0003c0006t0067g0080	1	106	0.0094	-442	c.136 others(19): Show c.1362-2354_1362-1913del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1889495	CTGTGAGG others(435): Show CTGTGAGGAGACACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAGTA GGGTAAGGAGTCTGTGTGGAGACACTGAGTGGGGTGAGGGGTTTGTGAGG AGACACTGAGTGTGGGTGAGGGGTCTGTGAGGAGTCATGGAGTGTGGTGT GAGTTGTGAGAAAACTCGGAGTGGGGTGAGGGTCGTGAGGAAACAGTGGG GTGAAGGTTTGTGAGGAGACCCTGAGTGGAGTGAGGGTTGCGAGGAGACA TTGAGTGGGATGAGGGTTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTG AGCAGACACTTCATGGGAGGAGGGTTTGTGAGAAGACACTAGGTGGGGTG AGGTTTGTGAGGAGACACTGAGTGTGGTGAGGGTTTGTGAGGAGACACTG CATGGGGTGAACTTTGTTAGGAGGCAGTGAGTGGGGCGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG03540.hp1 others(3): Show HG00597.hp1 HG00673.hp2 HG03540.hp1 NA18962.hp2 NA19002.hp1 NA19084.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0001c0020 a0001c0021 others(2): Show a0001c0004 a0001c0020 a0001c0021 a0001c0050 a0006c0134	a0001c0004t0002 a0001c0020t0008 a0001c0020t0016 others(3): Show a0001c0004t0002 a0001c0020t0008 a0001c0020t0016 a0001c0021t0005 a0001c0050t0006 a0006c0134t0005	a0001c0004t0002g0251 a0001c0020t0008g0315 a0001c0020t0016g0092 others(3): Show a0001c0004t0002g0251 a0001c0020t0008g0315 a0001c0020t0016g0092 a0001c0021t0005g0312 a0001c0050t0006g0127 a0006c0134t0005g0316	6	363	0.0165	-442	c.118 others(19): Show c.1182+3811_1183-3610del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID1B_chr6_156772378_157215779	157147221	TCCCTCAC others(435): Show TCCCTCACCTCCGACCCTGCCGTCCGTCCCCCACCCCAGCCTCCGACCCT GCCCGCCAGCCCTCACCCCCGCCTCCGACCCTGCCCTCCGTCCCTCACCT CCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGCCC GCCAGCCCTCACCCCCGCCTCCGACCCTGCCATCCGTCCCTCACCTCCGC CTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCCGGCCCTGACCTCCG TCCCTCACCTCCGCCTCCGACCCTGACCTCCGTCCCTCACCCCCGCCTCC GGCCCTGACCTCCGTCCCTCACCTCCGCCTCCGACCCTGCCCTCCGTCCC TCACCTCCGCCTCCGGCCCTGCCCGCCGTCCCCCACCCCCGCCTCCGACC CTGCCCTCCGTCCCCCACCCCAGCCTCCGACCCTGCCCGCCAG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	150	0.0067	-442	c.276 others(18): Show c.2762-1394_2762-953del	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
CACNG4_chr17_66959707_67038398	67017091	TTTTGAGA others(435): Show TTTTGAGACAGGGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGATGTG GTCTCAGCTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATCCTCCCAC CTCAGCCTCCCGAGTAGCTGGGATTACAAGTGCACCCCACCACATTCAGC TAATTTTTGTACTTTTAGGAGAAATGGGGTTTCACCATATTGCCCAGGCT GGTCTCGAACTCCTGGGCTTAAGCGATCCGCCCTCCTCAGCCTCCCAAAG TGGTGGGATTACAGGCGTGAGCCACTGCATCCGGCCATAACTATGGTTTA AGAGAGGGAAAGACACAGACAGACAGACTTCAACCCCACCCTTGCCTTCA CATGTCTTGCTTCTCTGCCTGGAAAGCCCCCTGTGCCCCATTCCCAGTGG GCAAATTCGTTGTTGTTGTTGTTGTTGTTGTTGTTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	352	0.0028	-442	c.221 others(16): Show c.221-1087_221-646del	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CAMK2B_chr7_44212154_44330594	44227064	GGGGTCAT others(435): Show GGGGTCATGGGGGATGGGGGTGCGTGAGGGGACCAAGGTGGATGTGGGGG ACAGAGGGAGTGTGGAGGACAGAGGGGGATGTGGGGGACAGAGAGAGGTG CAGGGGACAGAGGAGGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAG GGGGATGTGGGGGACAGAGGGGAAGTGGAAGACAGAGGGGGTGTGGGGGA CAGAAGGCGGTGTGGGGAACAGAGGGGGAGGTGGGGGACAGAGGAGAGTA TGGGGGACAGAGGGGGTGTGGGGGACAGAAGGGGGTGTGGAAGACAGGAG GTGTGGGGGACAGACGGAGTGTGGGGGACAGAGGGAGAGTCTGGGGGACA GAGGGGGTGTGGGGGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGG GGACAGAAGGGGGTATGGGGGGCAGGGGGTGGAGGACAGAGGA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0134 a0001c0002t0006g0134	1	242	0.0041	-442	c.146 others(17): Show c.1469-862_1469-421del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CRNKL1_chr20_20029368_20057466	20032015	GACACTCA others(435): Show GACACTCAACAGAAGTATTCACAGGAGCATCGTTTGTATAGTAAAAGCCA GAAACGTATCAACAGGACCGTGAATGACTTGTGCACAAGCCCAGCCACTC TTGAAGCTGACTCTTACAATGTTAGTCGACTGAGAGAAGCAAAAGACAAA AGAATATATGATTCCATGTATATAAACTTCATAAACAGGAGAAACTGTAA TAGGTGGTGAATTTGTAGAACAAATGCCTTGAGTTTATCTTTTAAGAAAA CGTGTTGCTTTTGAAATACTAGCATGCAAACATAAAGTCATGTTCTTACA CTGCAAAGTAATTGTCATAAATCCTAAGTAATACAAATTTCTATTACCAT GTAATCAGCTACAAGGTCCTATTACTACCATTCTGAGTAGTAGTCAAAGC AAGGTAAAAACACGTTTTAAAAAAAATATGTATCTATTACTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG02258.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0036 a0001c0001t0016g0036	2	428	0.0047	-442	c.37 others(11): Show c.3738_*4179del	CRNKL1	ENSG00000101343.15	transcript	ENST00000536226.2	protein_coding		2352		chr20	TogoVar
CSMD1_chr8_2930361_4999914	3795601	ATATCTAT others(435): Show ATATCTATCATAGATATAGATATATATCTATCATGTATAGATATAGATAT ATATCTATCATAGATATAGATATATATCTATCATGTATAGATATAGATAT ATATCTATCAAGTACAGCTATAGATATCTATCATGTACAGCTATAGATAC CTATCATGTACAGCTATAGATACCTATCATGTACAGATATAGATATATAC CTATCATGTACAGATATAGATATATATCTATCATGTACAGATATAGATAT ATATCTATCATGTACAGATATAGATATATATCTATCATGTACAGATATAT ATATCATGTACAGATATAGATATCTATCATGTACAGATATAGATATCTAT CATGTACAGATATAGATATCTATCATGTACAGATATAGATATATATCTAT CATGTATATAGATATATATCATGTATAGATATAGATATATATC	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0102 a0001c0102	a0001c0102t0005 a0001c0102t0005	a0001c0102t0005g0034 a0001c0102t0005g0034	1	126	0.0079	-442	c.819 others(19): Show c.819-42001_819-41560del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DPH7_chr9_137549444_137583925	137566784	TCTGTCTG others(435): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	340	0.0029	-442	c.641 others(17): Show c.641-2072_641-1631del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EXOC2_chr6_480154_698139	601450	CCACACAC others(435): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	272	0.0037	-442	c.743 others(17): Show c.743-2667_743-2226del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805560	TCCCCCCT others(435): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG03209.hp1 NA19063.hp1 others(1): Show HG00438.hp1 HG03209.hp1 NA19063.hp1 NA19089.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0002 a0002c0002t0001 a0006c0006t0001 a0001c0001t0002 a0002c0002t0001 a0006c0006t0001	a0001c0001t0002g0049 a0002c0002t0001g0008 a0002c0002t0001g0101 others(1): Show a0001c0001t0002g0049 a0002c0002t0001g0008 a0002c0002t0001g0101 a0006c0006t0001g0003	4	314	0.0127	-442	c.13 others(11): Show c.1395_*1836del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1274		chr2	TogoVar
MGAM_chr7_141990879_142111747	142042979	ATATATTA others(435): Show ATATATTATATATACATATAATATCTAAATATAATATATATAAAATATAA ACATAATATCTAAATATAATATCTATATTATATATACATATAATATCTAA ATATAATATATATATTATATATACATATAATATCTAAATATAATATATAT ATTATATATACATATAATATCTAAATATAATATCTATATTATATATACAT ATAATATCTAAATATAATATATATATTATATATACATATAATATCTAAAT ATAATATATATATTATATATACATATAATATCTAAATATAATATATATAT TATATATACATATAATATCTAAATATAATATATATATTATATATACATAT AATATCTAAATATAATATCTATATTATATATACATATAATATCTAAATAT AATATCTATATTATATATACATATAATATCTAAATATAATATC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0003 a0001c0039t0003	a0001c0039t0003g0040 a0001c0039t0003g0040	1	316	0.0032	-442	c.249 others(19): Show c.2498+2175_2498+2616del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MPLKIP_chr7_40121027_40139622	40131108	CACATGAG others(435): Show CACATGAGAAAATTGAGGCATAGAGAAGTGAACTCATCCAGCTAGTAACT TGTAGAAACAGCATTTCCAAAATCCTGGCTTTCATGGAGCTTTTATTAAT CTAAAAGCCTTCCATTCTTATTTTCTAGTCTCTGTGAAATACCTAATGAA CAAATTTCTGTGGGTATGGTTCAAATAGGAGGTGTGACCATTTTGTTTTT ACACGTTTCTTTCTGGGAATGTTGAAACAAAAGTTTTACTAGCTCTATCT TCGTATTTTGTAACTTCAAAATGCCTAGAGTCTGTGTTACATGTTAAAAC ACCTGATTTTGGCCGGGCATGGTGGCTCACGCCTGTAAACTCAGCACTGT GGGAGGCTGAGATGGGTGGATCATTTGAGATCATGAGTTCGAGACCAGCC TGGTCAACATGGTGAAACTAAAAATACTAAAAATACTAAAAAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02897.hp1 NA21309.hp1 HG02895.hp1 HG02897.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0077 a0001c0001t0033 a0001c0001t0077	a0001c0001t0033g0034 a0001c0001t0077g0071 a0001c0001t0033g0034 a0001c0001t0077g0071	3	390	0.0077	-442	c.15 others(11): Show c.1509_*1950del	MPLKIP	ENSG00000168303.9	transcript	ENST00000306984.8	protein_coding	2/2	1509		chr7	TogoVar
NAA20_chr20_20012362_20038655	20032015	GACACTCA others(435): Show GACACTCAACAGAAGTATTCACAGGAGCATCGTTTGTATAGTAAAAGCCA GAAACGTATCAACAGGACCGTGAATGACTTGTGCACAAGCCCAGCCACTC TTGAAGCTGACTCTTACAATGTTAGTCGACTGAGAGAAGCAAAAGACAAA AGAATATATGATTCCATGTATATAAACTTCATAAACAGGAGAAACTGTAA TAGGTGGTGAATTTGTAGAACAAATGCCTTGAGTTTATCTTTTAAGAAAA CGTGTTGCTTTTGAAATACTAGCATGCAAACATAAAGTCATGTTCTTACA CTGCAAAGTAATTGTCATAAATCCTAAGTAATACAAATTTCTATTACCAT GTAATCAGCTACAAGGTCCTATTACTACCATTCTGAGTAGTAGTCAAAGC AAGGTAAAAACACGTTTTAAAAAAAATATGTATCTATTACTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp2 HG02258.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	438	0.0046	-442	c.306 others(14): Show c.306-492_306-51del	NAA20	ENSG00000173418.12	transcript	ENST00000334982.9	protein_coding	4/5			chr20	TogoVar
NEU4_chr2_241804193_241822413	241805560	TCCCCCCT others(435): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18951.hp1 NA19067.hp1 others(1): Show HG00438.hp1 NA18951.hp1 NA19067.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0002t0001g0065	4	319	0.0125	-442	c.-37 others(11): Show c.-3717_-3276del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3632		chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31511066	TATATATG others(435): Show TATATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACACACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATACATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACACAT ATATATGTATATCTATATGTAACACATATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp2 HG01109.hp2 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0010 a0002c0005t0093 a0001c0004t0010 a0002c0005t0093	a0001c0004t0010g0210 a0002c0005t0093g0003 a0001c0004t0010g0210 a0002c0005t0093g0003	2	244	0.0082	-442	c.894 others(17): Show c.894-7690_894-7249del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511095	TATGTATA others(435): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01169.hp2 others(7): Show HG01081.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02155.hp2 HG02818.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0002c0014	a0001c0001t0004 a0001c0001t0007 a0001c0001t0043 others(6): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0043 a0001c0002t0034 a0001c0004t0010 a0001c0004t0048 a0002c0005t0017 a0002c0005t0020 a0002c0014t0073	a0001c0001t0004g0051 a0001c0001t0007g0147 a0001c0001t0043g0241 others(7): Show a0001c0001t0004g0051 a0001c0001t0007g0147 a0001c0001t0043g0241 a0001c0002t0034g0102 a0001c0004t0010g0027 a0001c0004t0048g0070 a0002c0005t0017g0238 a0002c0005t0020g0081 a0002c0005t0020g0082 a0002c0014t0073g0028	10	244	0.0410	-442	c.894 others(17): Show c.894-7719_894-7278del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
TMEM132D_chr12_129066726_129909025	129190097	TTGCAGAT others(435): Show TTGCAGATGGAGGGAGGGGTCTTGGGGGCCTGCAGATGGAGGGAGGGGGT CTCAGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGA GGGAGTCTCAGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATG GAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGGTCTCAGGCCTGC AGATGGAGGGAGGGGTCTCGGCCTGCAGATGGAGGGAGGGGTCTTGGGGG CCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGAGT CTCAGGCCTGCAGATGGAGGGAGGGGTCTCGGCCTGCAGATGGAGGGAGG GAGTCTCAGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGA GGGAGGGGTCTCAGGCCTGCAGATGGAGGGAGGGGTCTCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp2 HG01884.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0009 a0001c0001t0003 a0002c0003t0009	a0001c0001t0003g0032 a0002c0003t0009g0022 a0001c0001t0003g0032 a0002c0003t0009g0022	2	94	0.0213	-442	c.144 others(21): Show c.1443+18981_1443+19422del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TRPM7_chr15_50552158_50691797	50629156	GATATATA others(435): Show GATATATACTTTAAGGTTTTTGATATACTCCAAAATACTTCAGATTGCTT CTACCATCCACCATGGGAGGGGTATAACCATAACCATTTCTCCATGTGCC ATGGAGAGGGGAGTTTCCTTCTTCTTCTCTTTTCTGAGACCGAGTCTCTC CCTGTTGTCCAGGCTGGAGTGCAGTGGCGTGGTCTTGGTTCACTGCAACC TCTGCCTCCTGGGCTCAACTGATCCTCCCACCTCAGCCTCTCAAGTAGCT GGGACCACTGGTGTATGGCACCACACCAGGCTAAGTTTTGTATTTTTTGT AGAGATAGGGTTTTGCCAAATTGCCCAGACTGATCTCAAACTCCTGGGCT CAAGCAATCTGCTTGCCTCAGCCTCCCAAAATTTATTACTGTAACATTGG CCATCCTTCCATATTTTCTCTAAGCATTTGGATTCCTCTACTA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp2 HG01192.hp1 others(17): Show HG00609.hp2 HG01167.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG02083.hp2 HG02258.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03688.hp1 HG03927.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0025 a0001c0004t0026 others(5): Show a0001c0004t0009 a0001c0004t0025 a0001c0004t0026 a0001c0004t0036 a0001c0004t0084 a0001c0004t0086 a0001c0004t0087 a0001c0004t0088	a0001c0004t0009g0332 a0001c0004t0009g0333 a0001c0004t0009g0335 others(17): Show a0001c0004t0009g0332 a0001c0004t0009g0333 a0001c0004t0009g0335 a0001c0004t0009g0336 a0001c0004t0009g0337 a0001c0004t0009g0338 a0001c0004t0009g0347 a0001c0004t0009g0349 a0001c0004t0025g0341 a0001c0004t0025g0342 a0001c0004t0025g0352 a0001c0004t0026g0340 a0001c0004t0026g0344 a0001c0004t0026g0345 a0001c0004t0036g0348 a0001c0004t0036g0350 a0001c0004t0084g0334 a0001c0004t0086g0346 a0001c0004t0087g0339 a0001c0004t0088g0343	20	352	0.0568	-442	c.120 others(18): Show c.1205-1349_1205-908del	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	10/38			chr15	TogoVar
VPS53_chr17_503668_719839	642870	TCGAGGAC others(435): Show TCGAGGACAACACTCATACTTGGAAATCGAGGACAACACTCATACTTGGC AACCGAGGACAACACTCATACTTGGCAACCGAGGACAACTCTCATACTTG GAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACT TGGAAAGCGAGGACAACACTCATACTTGGAAATCAAGGACAACACTCATA CTTGGCAACTGAGGACAACACTCATACTTGGAAACCGAGGACAACACTCA CACTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACT CATACTTGGAAAGCGAGGACAACACTCATACTTGGCAACTGAGGACAACA CTCATACTTGGAAACCGAGGACAACACTCATACTTGGAAAGTGAGGACAA CACTCATACTTGGAAAGTGAGGACAACACTCATACTGGGAAAC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0065 a0001c0002t0005g0065	1	232	0.0043	-442	c.608 others(18): Show c.608+9979_608+10420del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
ZNF516_chr18_76352682_76500242	76394288	AGGTGGTC others(435): Show AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0250 a0001c0001t0007g0250	1	346	0.0029	-442	c.181 others(21): Show c.1811-14427_1811-13986del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394380	AGGTGGTC others(435): Show AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0047 a0003c0007t0047	a0003c0007t0047g0266 a0003c0007t0047g0266	1	346	0.0029	-442	c.181 others(21): Show c.1811-14519_1811-14078del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACTN2_chr1_236681499_236769631	236756540	CGTTAGAA others(434): Show CGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACC GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCG TTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTT AGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTA GAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAG AACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAA CCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(16): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00642.hp1 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01255.hp1 HG01261.hp2 HG01433.hp2 HG03669.hp2 HG04115.hp1 HG04184.hp2 NA18952.hp2 NA18955.hp1 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19062.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0022 a0001c0001 a0006c0022	a0001c0001t0001 a0001c0001t0003 a0006c0022t0001 a0001c0001t0001 a0001c0001t0003 a0006c0022t0001	a0001c0001t0001g0005 a0001c0001t0001g0157 a0001c0001t0001g0211 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0157 a0001c0001t0001g0211 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0308 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0328 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0003g0020 a0006c0022t0001g0203	19	344	0.0552	-441	c.215 others(17): Show c.2155-931_2155-491del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2C_chr10_269201_694668	321947	CTGTTAGA others(434): Show CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	88	0.0114	-441	c.392 others(19): Show c.3924+4618_3924+5058del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322339	CTGTTAGA others(434): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAG AACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	88	0.0114	-441	c.392 others(19): Show c.3924+4226_3924+4666del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322535	TTGTTAGA others(434): Show TTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTT AGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCGGCGC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	88	0.0114	-441	c.392 others(19): Show c.3924+4030_3924+4470del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322761	CTCCGGCG others(434): Show CTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGC TCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCT CCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTC CGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCC AGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTG AGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	88	0.0114	-441	c.392 others(19): Show c.3924+3804_3924+4244del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
EIF3B_chr7_2349827_2385745	2377938	GCTGGGAT others(434): Show GCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAG GAGAAGGCGCGAGCACTGCTGGGATGCTGTGTTGTGTGAATGACCCTCGG TGTCATGGAGGAAGGAACAGGCGAGCGTTCCTGGGATGCTGTGTTGTGTG AATGACCCTTGGTGTCATGGAGGAAGGAACAGGCGAGCGCTC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03516.hp1 NA18943.hp1 others(2): Show HG02809.hp2 HG03516.hp1 NA18943.hp1 NA19002.hp2 NA19003.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0023 a0001c0001 a0002c0002 a0014c0023	a0001c0001t0001 a0002c0002t0001 a0014c0023t0001 a0001c0001t0001 a0002c0002t0001 a0014c0023t0001	a0001c0001t0001g0357 a0001c0001t0001g0358 a0002c0002t0001g0235 others(2): Show a0001c0001t0001g0357 a0001c0001t0001g0358 a0002c0002t0001g0235 a0002c0002t0001g0236 a0014c0023t0001g0234	5	384	0.0130	-441	c.215 others(17): Show c.2155-741_2155-301del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
FOXN3_chr14_89151177_89422233	89362305	ACCACCTC others(434): Show ACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCAC CTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCA CCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGC TCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCAC CACCACCACCACCATCTCTACGACCACCACCACCACCATCTCCACCACCA CCTCCACCACCACCACCACCACCATCTCTACGACCACCACCACCACCACC ATCTCTACGACCACCACCACCTCCACCACCATCTCCACCACCACCACCAC CATCTCCACCACCACCTCCACCACCATCTCCACCACCACCACCACCACCA CCACCACCACCACCATCTCCACCACCACCTCCACCACCATCT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	230	0.0044	-441	c.544 others(19): Show c.544-11938_544-11498del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
IDI1_chr10_1034419_1054119	1038639	GGCAGGTG others(434): Show GGCAGGTGGAGGGCAGTTCCCACAGGGACCCACTTCGGGTACAACCTGGG CTTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACAGGGACGCACTGCG GGTACGACCTGGACGTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACA GGGACGCACTGCGGGTACGACCTGGACGTGTCCCCAGGGAGCAGGTGGAG GGCAGTTCCCACAGGGACGCACTGCGGGTACGACCTGGACGTGTCCCCAG GGAGCAGGTGGAGGGCAGTTCCCACAGGGACGCACTGCGGGTACGACCTG GACTTGTCCCCATGGAGCAGGTGGAGGGCAGGTCCCACAGGGACGCACTG CGGGTACGACCTGGACTTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCA CAGGGACGCACTGCGGGTACGACCTGGACTTGTCCCCAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02258.hp2 others(17): Show HG01243.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0010 a0001c0001t0004g0069 a0001c0001t0004g0073 others(6): Show a0001c0001t0004g0010 a0001c0001t0004g0069 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0077 a0001c0001t0004g0101 a0001c0001t0004g0118 a0001c0001t0013g0095	20	438	0.0457	-441	c.21 others(11): Show c.2107_*2547del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding		779		chr10	TogoVar
LPP_chr3_188149157_188895671	188784412	CATATATA others(434): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATTCCATCATATATATATA TTCCATCATATATATATATTCCATCATATATATATATTCCATCATATATA TATTCCATCATATATATATTCCATCATATATATATATTCCATCATATATA TATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATA TATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCA TATATATATATTTCCATCATATATATATTCCATCATATATATATTCCATC ATATATATATATTCCATCATATATATATATTCCATCATATATATATATTC CATCATATATATATATTCCATCATATATATATATTCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0049 a0002c0007t0007g0049	1	76	0.0132	-441	c.141 others(21): Show c.1410+24141_1410+24581del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC23_chr12_6899822_6919229	6909115	ATATAATA others(434): Show ATATAATATATAATATATAATTATATATTATATATTATATATTATATATA AAATATATAATATATAATTATATATTATATATAATATATAATTATATATA ATATATATAATTAGATATAATATATAATTATATATTATATATAATTATAT ATAATATATTATATATAATTATATATAATACATAAATATATATAATAGTA TATATTATATATAATATATATAATATATAAATATATATAATAGTATATTA TATATAATATATTTTATATAATATATAAATATTATATATAATAGTATATT ATATATAATATATAAATATTATATATAATAGTATATAATATATAATATAT AATATATATTTTATATATTATATAATATATTATATATTATATATATAATA ACTCCACAGGAAGCCACTGAAATATTTAGTCTTTTAGACTCT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0195 a0004c0004t0003g0195	1	316	0.0032	-441	c.622 others(15): Show c.622-772_622-332del	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYT1_chr20_64159452_64247253	64173804	GTAGTTGT others(434): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTA GTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0017 a0001c0001t0014g0017	1	223	0.0045	-441	c.-99 others(17): Show c.-99+9201_-99+9641del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCBP3_chr21_45638725_45947450	45815108	GTGGTGAG others(434): Show GTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTG GTGAGTAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTG ATGAGTGAGTGGTGAGTGATGAGTGGTGAGTGATGAGTGAGTGGTGAGTG AGTGGTGAGTGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTGGTGAGTG AGTGGTGAGTGGTGAGTGAGTGATGAGTGAGTGGTGAGTGATGAGTGGTG AGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGT GGTGAGTGATGAGTGAGTGGTGAGTGGTGAGTCAGTGGTGAGTGGTGAGT GGTGAGTGAGTGATGAGTGATGGGTGAGTGGTGAGTGATGAGTGAGTGGT GAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02004.hp1 HG01358.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0033 a0001c0002t0006g0047 a0001c0002t0006g0033 a0001c0002t0006g0047	2	292	0.0069	-441	c.-12 others(21): Show c.-125-34850_-125-34410del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX5_chr12_7184686_7216459	7196940	TAATGTAA others(434): Show TAATGTAATAATTATATGTCACATATAATGTAATAATTATATATGTCACA TATAATGTAATAATTATATATGTCACATATAATGTAATTATATATGTCAC ATATAATGTAATTATATATGTCACATATAATGTAATTATATATGTCACAT ATAATGTAATTATATATGTCATATAATGTAATAATATATGTCATATATAA TGTAATAATTATATATGTCATATATAATGTAATTATATATGTCATATATA ATGTAATTATATATGTCATATATAATGTAATTATATATGTCATATGTAAT AATTATATGTCATATGTAATAATTATATATGTCATATATAATGTAATAAT TATATATGTCATATATAATGTAATCATATGTCATATACAATGTAATAATT ATATATGTCATATACAATGTAATAATTATATATGTCATATAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02896.hp1 HG02897.hp1 HG01261.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	3	428	0.0070	-441	c.449 others(17): Show c.449-2054_449-1614del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLCXD1_chrX_276381_308356	297274	TCACATGG others(434): Show TCACATGGGGATCAGGACGTGGACATCTTTGGGGACATTATCCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCC ACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCCA CATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCAC ATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCCCACA TGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACAT GGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCCCACATG GGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGG GGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18980.hp1 NA18964.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0037 a0001c0001t0009 a0001c0001t0037	a0001c0001t0009g0075 a0001c0001t0037g0063 a0001c0001t0009g0075 a0001c0001t0037g0063	2	176	0.0114	-441	c.734 others(17): Show c.734-1811_734-1371del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297310	ATTATCCT others(434): Show ATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCA TTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCCAT TATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTA TTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTAT TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATT CTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCT GTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(29): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00733.hp2 HG01071.hp1 HG01175.hp2 HG01346.hp1 HG01993.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG04184.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18961.hp1 NA18975.hp1 NA18975.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA19080.hp2 NA19081.hp1 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0014 a0005c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0059 a0001c0001t0067 a0001c0001t0069 a0001c0001t0072 a0001c0001t0078 a0001c0001t0103 a0001c0001t0111 a0001c0002t0001 a0001c0002t0002 a0001c0003t0063 a0001c0004t0007 a0001c0006t0075 a0001c0014t0062 a0005c0015t0109	a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0086 others(28): Show a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0086 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0005g0081 a0001c0001t0005g0096 a0001c0001t0007g0124 a0001c0001t0009g0065 a0001c0001t0013g0002 a0001c0001t0014g0083 a0001c0001t0059g0123 a0001c0001t0067g0039 a0001c0001t0069g0148 a0001c0001t0072g0001 a0001c0001t0078g0080 a0001c0001t0103g0037 a0001c0001t0111g0014 a0001c0002t0001g0147 a0001c0002t0001g0154 a0001c0002t0002g0108 a0001c0002t0002g0139 a0001c0003t0063g0049 a0001c0004t0007g0106 a0001c0004t0007g0110 a0001c0006t0075g0112 a0001c0014t0062g0095 a0005c0015t0109g0113	32	176	0.1818	-441	c.734 others(17): Show c.734-1782_734-1342del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298295	TCTGTCTC others(434): Show TCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATT CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCT GTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTG TCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGT CTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTC TATCACATGGGGATTACGACGTGGACATCTTTGGGGACATTATTCTGTCT CCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTA TCACATGGGGATCAGGACGTGGACATCTTTGGGGCCATTATC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19057.hp1 HG00558.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0070 a0001c0001t0001 a0001c0001t0070	a0001c0001t0001g0004 a0001c0001t0070g0004 a0001c0001t0001g0004 a0001c0001t0070g0004	2	176	0.0114	-441	c.734 others(15): Show c.734-795_734-355del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRKCA_chr17_66297613_66815743	66799013	GTGGTGGT others(434): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGA CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	178	0.0056	-441	c.185 others(19): Show c.1855-4845_1855-4405del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1072314	GCCCCCAG others(434): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGT GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGTGAGCCCCCAGCACACTGGCATCACACTTATGCAGCCCCCAGTGAG CCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	118	0.0085	-441	c.224 others(18): Show c.2241+878_2241+1318del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TBC1D22A_chr22_46757650_47180693	47175355	TCCGTCAC others(434): Show TCCGTCACAAGAAGAGCCGCCCCTCGGCCGTGTGCAGGAAGCCCCATGTC GCTTTGCCGAGATCAGCCCTGGGAGGATCCCCTTCTCCAGCTCAGATCAT GCCGTGTGGCCAGAAGGCTGCGGACACAACTGACCTGCTTCTCGAGGTGG TTGATGTTTTAAACAGGAAGCTCCACGGAGTTCAGCCCTGTGTGCATTTC CTCATGTATGTAAACGCCAAGACTGAATGTGAGAGGTGTTGGCCGCGGGC CTTAAGTCTGAGCAGATCCATCTGGAATGTTCGGGGTGTGCTGTCTGGAT GTGGTGCGCTAAAAACACGGAATAAAGATCAGTGACAAAGCCGCGGCCTT GGCCTGTGATTCGAGGACTTGCCCATCGAGGACAGGGGCACCCTGGCCCA GCCCTGCCGAGGGTCTGAGCTCAGGGCCATTGCGGCGCACCA	T T	splice_region_variant others(1): Show splice_region_variant downstream_gene_variant	LOW	HG00642.hp2 HG02965.hp2 HG03453.hp2 HG00642.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0044 a0001c0001t0008g0100 a0001c0001t0008g0036 a0001c0001t0008g0044 a0001c0001t0008g0100	3	112	0.0268	-441	c.17 others(11): Show c.1730_*2170del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	13/13	0		chr22	TogoVar
VPS53_chr17_503668_719839	550707	GGGGGTGA others(434): Show GGGGGTGAAAGACATGGTCTGTGCACTTACGGAATTGACATTCATTTGGG AAAAAAAGGCATAGGCACATAAAAGTCAAAAATAGGAAGATGAGGTAGCG CTCAGTAAGTGCCAAAGGAGGAGACTTGAGGGCCAAGGGCTGACTGATGG GCCACCACGATATTAGAAAACCAGAGTTCACAACCTGATCAAATACTCTT ACATTGGCACCAGAGCTCAGAAGGAGTTGGAAAAACCTCTCAGTGGGCAA GAATGAAGAATGAGTCAGAAGTTACTACTTTAAGCACTAATGAAAACACC CATTCTGGTGAGACCACACCAAGGTTTTTAGCATGTGTCAGATACTAATC AAAGATAATACGTAAATAAAGGACATGGCTGATTGGTTTTTAATTAACAA AAATGAATCTCCCATATTCAAGACTACATGAGAGATAAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	232	0.0043	-441	c.186 others(18): Show c.1866+724_1866+1164del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
ZFAND2A_chr7_1147907_1165196	1156112	CGCCCAGC others(434): Show CGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACTG CCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCG AAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGA GCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAG GCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTG AAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGAC CGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTC CGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCT GAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	432	0.0023	-441	c.151 others(15): Show c.151-969_151-529del	ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4			chr7	TogoVar
CYP4F11_chr19_15907377_15939529	15931641	CGAGGAGA others(433): Show CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0068 a0002c0001t0068	a0002c0001t0068g0045 a0002c0001t0068g0045	1	386	0.0026	-440	c.198 others(17): Show c.198+2130_199-2041del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931709	GGAATGAG others(433): Show GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0168 a0002c0001t0168	a0002c0001t0168g0360 a0002c0001t0168g0360	1	386	0.0026	-440	c.198 others(17): Show c.198+2062_199-2109del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932023	AGGAGAAG others(433): Show AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0152 a0003c0003t0152	a0003c0003t0152g0073 a0003c0003t0152g0073	1	386	0.0026	-440	c.198 others(17): Show c.198+1748_198+2187del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933425	GAGAAGAA others(433): Show GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02257.hp1 NA18951.hp1 others(1): Show HG00609.hp1 HG02257.hp1 NA18951.hp1 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0011 a0002c0001 a0001c0002 a0001c0011 a0002c0001	a0001c0002t0003 a0001c0002t0137 a0001c0011t0043 others(1): Show a0001c0002t0003 a0001c0002t0137 a0001c0011t0043 a0002c0001t0173	a0001c0002t0003g0244 a0001c0002t0137g0254 a0001c0011t0043g0301 others(1): Show a0001c0002t0003g0244 a0001c0002t0137g0254 a0001c0011t0043g0301 a0002c0001t0173g0376	4	386	0.0104	-440	c.198 others(15): Show c.198+346_198+785del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DBNDD1_chr16_89999871_90024456	90003415	TACCTTTA others(433): Show TACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCC CGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCC CGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCC TCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTC TATGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	412	0.0024	-440	c.24 others(11): Show c.2480_*2919del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1455		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003436	TGGGACTT others(433): Show TGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACG TGGGGTGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCTACCTTTACAT GCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTT TATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCT ACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCT GGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCT CCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC TCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01167.hp1 others(13): Show HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01981.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG03139.hp1 HG03239.hp1 HG03669.hp2 HG06807.hp1 NA18954.hp1 NA18971.hp2 NA19081.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0087 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0087 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0002g0291 a0001c0001t0003g0146 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0008g0058 a0001c0002t0001g0003	16	412	0.0388	-440	c.24 others(11): Show c.2459_*2898del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1434		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003470	TACCTTTA others(433): Show TACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCC CGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	412	0.0024	-440	c.24 others(11): Show c.2425_*2864del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1400		chr16	TogoVar

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