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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
BRD1_chr22_49768283_49832873	49782491	GGCCCATC others(472): Show GGCCCATCTTGCTGGGACCTGCTCCATGACAATGCAGCTGGGACGGTCAG AGACAGACCCAAGGCCCATCGTGCTGGGACTCGCTCCGTGACAATGCAGC TGGGATGGTCAGAGACAGAACCAAGGCCCAGGCCAGACGCCTGCACGAGA CCTGCTCTTGCTGGGACCCACTCCGCGACAATGCAGCTGGGATGGTCAGA GACAGACCCAAGGCCCAGGCCAGATGCCTGCACAAGACTTGCTCTGTGAC AATGCCGCTGGGGACAGTCAGAGACAGACCCAAAGCCCATCTTGCTGGGA CCTGCTCCATGACAATGCAGCTGGGACGGTCAGAGACAGACCCAAGGCCC ATCGTGCTGGGACCCGCTCCGCGACAATGCAGCTGGGATGGTCAGAGACA GACCCAAGGCCCAGGCCAGATGCCTGCACAAGACTTGCTCTGTGACAATG CCGCTGGGGACAGTCAGAGACAGACCCAAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0221 a0002c0003t0003g0221	1	258	0.0039	-479	c.285 others(19): Show c.2857+4420_2858-4679del	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	8/12			chr22	TogoVar
C8orf82_chr8_144520733_144534111	144531235	AAGGGCAC others(472): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGG CTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0050 a0001c0003t0003g0050	1	398	0.0025	-479	c.-27 others(11): Show c.-2798_-2320del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2125		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531294	AAGGGCAC others(472): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0020 a0002c0004t0020	a0002c0004t0020g0059 a0002c0004t0020g0059	1	398	0.0025	-479	c.-28 others(11): Show c.-2857_-2379del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2184		chr8	TogoVar
CACNA1C_chr12_2047987_2702950	2105815	GCTGGGCA others(472): Show GCTGGGCATCCTGAAGCCACTGGGCGCCCACCCTGGGGAGGGTTTCCACC TCAGCTGGGCATCGTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCC ACCTCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTT TCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAG GGTTTCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCTGG AGAAGGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCC TGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGCGCCCA CCCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGTGC CCACCCCGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGG CGCCCACCCCGGGGAGGATTTCTACCTCAT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp2 HG03139.hp2 HG02572.hp1 HG03041.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0006 a0003c0035 a0001c0003 a0001c0006 a0003c0035	a0001c0003t0018 a0001c0006t0001 a0003c0035t0025 a0001c0003t0018 a0001c0006t0001 a0003c0035t0025	a0001c0003t0018g0068 a0001c0006t0001g0102 a0003c0035t0025g0078 a0001c0003t0018g0068 a0001c0006t0001g0102 a0003c0035t0025g0078	3	104	0.0289	-479	c.50- others(15): Show c.50-9403_50-8925del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAMK2B_chr7_44212154_44330594	44227051	GTGGGGGA others(472): Show GTGGGGGACAGAAGGGGTCATGGGGGATGGGGGTGCGTGAGGGGACCAAG GTGGATGTGGGGGACAGAGGGAGTGTGGAGGACAGAGGGGGATGTGGGGG ACAGAGAGAGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAGGAGGGT GCAGGGGACAGAGGGGGATGTGGGGGACAGAGGGGAAGTGGAAGACAGAG GGGGTGTGGGGGACAGAAGGCGGTGTGGGGAACAGAGGGGGAGGTGGGGG ACAGAGGAGAGTATGGGGGACAGAGGGGGTGTGGGGGACAGAAGGGGGTG TGGAAGACAGGAGGTGTGGGGGACAGACGGAGTGTGGGGGACAGAGGGAG AGTCTGGGGGACAGAGGGGGTGTGGGGGACAGGAGGGGGTGTGGAAGACA GAGGAAGTGTGGGGGACAGAAGGGGGTATGGGGGGCAGGGGGTGGAGGAC AGAGGAGGGTGTGGGGGACAGAGGGGGATA	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	242	0.0041	-479	c.146 others(17): Show c.1469-886_1469-408del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
DACH1_chr13_71432966_71872204	71734129	ATATACCC others(472): Show ATATACCCCATATATATGTATATCCCATATACGTATACCCCATATATATG TATATCCCATATACGTATACCCATATATATGTATATCCCATATACGTATA CCCCATATATATGTATATCCCATATACGTATACCCCATATATATGTATAT CCCATATACGTATACCCCATATATATGTATATCCCATATACGTATACCCC ATATATATGTATATCCCATATACGTATACCCCATATATATGTATATCCCA TATACGTATACCCCATATATATGTGTATCCCATATACGTATACCCCATAT ATATGTATAGCCCATATACGTATACCCCATATATATGTATATCCCATATA CGTATACCCCATATATATGTATATCCCATATACGTATACCCCATATATAT GTATATCCCATATACGTATACCCCATATATATGTATATCCCATATACGTA TACCCCATATATATGTATATCCCATATACG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0060 a0002c0002t0004g0060	1	102	0.0098	-479	c.849 others(19): Show c.849-52698_849-52220del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
GALNT9_chr12_132191372_132334589	132232669	GAGGAGAC others(472): Show GAGGAGACAGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCCTACTGCCACACACTCCATGGGGCGAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp2 HG02257.hp1 HG02717.hp2	a0001 a0001	a0001c0014 a0001c0015 a0001c0014 a0001c0015	a0001c0014t0003 a0001c0015t0001 a0001c0014t0003 a0001c0015t0001	a0001c0014t0003g0146 a0001c0015t0001g0067 a0001c0014t0003g0146 a0001c0015t0001g0067	2	183	0.0109	-479	c.107 others(21): Show c.1077+14762_1077+15240del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HSD17B14_chr19_48808018_48841491	48834446	GGTGCTGG others(472): Show GGTGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCT GGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGG CCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGG ACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGG GGGCCTGGACTCCTGGGTCTGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02055.hp2 others(8): Show HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02451.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG04204.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0034 a0001c0001t0001g0054 a0002c0002t0002g0003 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0054 a0002c0002t0002g0003 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024	11	394	0.0279	-479	c.128 others(14): Show c.128-567_128-89del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834455	GGCCTGGA others(472): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGG TCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA GGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	394	0.0025	-479	c.128 others(14): Show c.128-576_128-98del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834565	AGCCTGGA others(472): Show AGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAG TAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCT GGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGA CTCCTGGGTCCGAGGAAGTAGGGCCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03139.hp1 NA18954.hp2 others(1): Show HG02523.hp1 HG03139.hp1 NA18954.hp2 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0047 a0002c0002t0001g0298 a0002c0002t0001g0299 others(1): Show a0001c0001t0001g0047 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300	4	394	0.0102	-479	c.128 others(15): Show c.128-686_128-208del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
LRRC24_chr8_144517388_144532033	144531235	AAGGGCAC others(472): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGG CTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0035 a0005c0008t0001g0035	1	398	0.0025	-479	c.-48 others(11): Show c.-4814_-4336del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4203		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531294	AAGGGCAC others(472): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	398	0.0025	-479	c.-48 others(11): Show c.-4873_-4395del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4262		chr8	TogoVar
MED27_chr9_131855112_132084867	132083344	CGGAGGTT others(472): Show CGGAGGTTGCGGTGAGCCGAGATCACGTCATTCCACTCCAACCTGGGCAA CAAGAGTGAAACTCCGTCTCCAAAAAAAATAAATAAGTAAGTAAATAAAA AGGCCATCCTTAAGAGGCAGGGAAAGTCTAAACCACCGTCTAGGTGGTAA GAAAAATCTTCAGTTCAGCCAGACTGTGCTGACAAGGATTTTGAAATTGG GTAGTTCACCTCAGTTCCACCTCCTTAATAATTCCCCACTTCCCGGCCAA GTGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGAGAG CAGATCACTCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAA ACCCCGTCTCTACTAAAACATACAAAATTTAGCCGGATGTGCACAAAACT TAGTCTGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGAAGGCTG AGGCAGGAGAATCGCTTGAACCCAGAAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	274	0.0037	-479	c.-39 others(11): Show c.-3979_-3501del	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding		3478		chr9	TogoVar
MYT1L_chr2_1784113_2336275	2004054	CTTTCCTG others(472): Show CTTTCCTGCAGGCGTTCTTTCCTGCATATGTTCTTTCCTGCGTGCCTTCT TTCCTGCGTGCCTTCCTTCCTGTGTGCCTTCTTTCCTGCATACGTTCTTT CCTGTGTGCCTTCTTTCCTGCGTGCCTCCTTTCCTGCAGGCGTTCTTTCC TGAATGTGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGCGTTCTTTCCTG CAGGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCATGCGTTCTTTCCTGCA TGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCATACGTTCTTTCCTGCGTG CCTTCTTTCCTGTGTGCCTTCTTTCCTGCAGGCGTTCTTTCCTGCATGCG TTCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTTCCTGCAGGCGTT CTTTCCTGAATATGTTCTTTCCTGCTTGCCTTCTTTCCTGCAGGCATTCT TTCCTGCAGGCATTATTTCCTGCATACGTT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19055.hp2 NA18990.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0050 a0001c0001t0008g0009 a0001c0001t0001g0050 a0001c0001t0008g0009	2	104	0.0192	-479	c.-15 others(19): Show c.-157-7186_-157-6708del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149536	CCACACCC others(472): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	294	0.0034	-479	c.901 others(15): Show c.901+678_902-930del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149969	ACTCACAC others(472): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	294	0.0034	-479	c.902 others(15): Show c.902-959_902-481del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NWD1_chr19_16714847_16822953	16738391	AAACCCCA others(472): Show AAACCCCATCTCTACTAAAAATACACAAATTAGCCAGACGTGGTGGCACA TGCCTGTGATCCCAGCTACTTGGGAAGCTGAGGCAGGATAATCATTTGAA ACTGGGAGGCAGAGGTTGGAGTGAGCCGAGATTGTGCCACTGCATTCCAG ACTGCGCAACAGACGGAGACTCTGTCAAAAAAAAAAAAAAAAAAGGAGAA GGTGAGGGCCAGAGAGATATTCTATTTTCTGAGATCTATTTTCTGAGACC TAAAGTGTCCCAACATTATAACGAAAGACTGTAACAAGGGCTTTGGGAAT TATGAGCCAGGAATAATGGGCAAAACATATATATATAATCTATATATAAT ATATATATTATATATATATAATATAATGATATATAATATATAATATATAA TAACATATAACATACTATTATATGTATAATATATAATGTATACATTATAT ATTATATATAATACATTATCTATAATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0034 a0034	a0034c0051 a0034c0051	a0034c0051t0002 a0034c0051t0002	a0034c0051t0002g0028 a0034c0051t0002g0028	1	300	0.0033	-479	c.198 others(17): Show c.198+1644_198+2122del	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
OTUD7A_chr15_31470398_31875673	31511145	TATGTATA others(472): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACACATATATG TATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACA CATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0016 a0001c0002t0034g0016	1	244	0.0041	-479	c.894 others(17): Show c.894-7806_894-7328del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PLEKHA4_chr19_48832097_48873617	48834446	GGTGCTGG others(472): Show GGTGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCT GGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGG CCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGG ACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGG GGGCCTGGACTCCTGGGTCTGAGGGAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02055.hp2 others(8): Show HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02451.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG04204.hp1 NA20300.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0005 a0003c0003t0006 others(1): Show a0001c0001t0001 a0003c0003t0005 a0003c0003t0006 a0004c0004t0002	a0001c0001t0001g0162 a0003c0003t0005g0040 a0003c0003t0005g0042 others(8): Show a0001c0001t0001g0162 a0003c0003t0005g0040 a0003c0003t0005g0042 a0003c0003t0005g0053 a0003c0003t0005g0054 a0003c0003t0005g0055 a0003c0003t0005g0056 a0003c0003t0005g0089 a0003c0003t0006g0237 a0003c0003t0006g0241 a0004c0004t0002g0045	11	300	0.0367	-479	c.23 others(11): Show c.2364_*2842del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2650		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834565	AGCCTGGA others(472): Show AGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAG TAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCT GGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGA CTCCTGGGTCCGAGGAAGTAGGGCCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG03139.hp1 NA18954.hp1 others(2): Show HG02523.hp2 HG03139.hp1 NA18954.hp1 NA18969.hp1 NA18980.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0003 a0001c0001t0001g0185 a0004c0004t0002g0096 a0001c0001t0001g0003 a0001c0001t0001g0185 a0004c0004t0002g0096	5	300	0.0167	-479	c.22 others(11): Show c.2245_*2723del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2531		chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50344254	CCCTCCAG others(472): Show CCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCC AGTCAGTGCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAA TTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCC CCCTTCAGTCAGTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCC AGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAG TGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCC CCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCC AGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAG TGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCTAGTCAGTGCCCC CTCCAGTCAGTTCCCCCCCAGTCAGTGCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02615.hp2 others(9): Show HG02055.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG03516.hp2 HG03540.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0018 a0001c0031 a0001c0002 a0001c0018 a0001c0031	a0001c0002t0004 a0001c0018t0004 a0001c0031t0003 a0001c0002t0004 a0001c0018t0004 a0001c0031t0003	a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0325 others(9): Show a0001c0002t0004g0323 a0001c0002t0004g0324 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0328 a0001c0002t0004g0330 a0001c0002t0004g0331 a0001c0002t0004g0332 a0001c0002t0004g0333 a0001c0002t0004g0334 a0001c0018t0004g0327 a0001c0031t0003g0329	12	340	0.0353	-479	c.-14 others(18): Show c.-148+718_-148+1196del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RASGEF1A_chr10_43189535_43272065	43244236	ACACAAAC others(472): Show ACACAAACAGGGCCGAAGGCCGCAGGGACCTCTGCCTAGGAAAACCAGAG ACCTTTGTTCTCGTGTTTATCTGCTGACCTTCTCTCCACTATTATCCTAT GACCCTGCCACATCCCCCTCTCTGAGAAACACCTAAGAATGATCAATAAA TACTAAAAATAAAAAAATTAAAAAAAAAAATCAGAAGACTTGAACAACAC TTTAAGCCAACTAGACCTAACAGACATCGACAGAACACTCCACTTAACAA CAACAGAACACATACTCTTCTCAAGTGCACAGGAAATATTCTCCAGAATA GACCTTATGTTAGGCCATAAAGCAAATCTCAATAAATTTAAAAGGACTGA AATTATACAAAGTATGTTCTGTGACCACAATAAAATAACAGAAGTCAACG GCAAAAACAATCTGGGAAATTTACAAATATGTGGAAATTACACAACATAT TCTTAAATAACCAATGGAAAAAGAAGAAAC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG02602.hp2 others(4): Show HG01192.hp2 HG01361.hp2 HG02602.hp2 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0108 a0001c0003t0004g0109 a0001c0003t0004g0260 others(4): Show a0001c0003t0004g0108 a0001c0003t0004g0109 a0001c0003t0004g0260 a0001c0003t0004g0261 a0001c0003t0004g0264 a0001c0003t0004g0267 a0001c0003t0004g0268	7	350	0.0200	-479	c.-7+ others(17): Show c.-7+22130_-7+22608del	RASGEF1A	ENSG00000198915.12	transcript	ENST00000395810.6	protein_coding	1/12			chr10	TogoVar
SLC25A16_chr10_68472998_68532523	68494308	AAAAATTA others(472): Show AAAAATTAGCTGGGTGTGGCGGCACATTCCTGTAGTCCCAGCTAGTCGAG AGGCTGATGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGA GCTAAGATCACGCCACTGCAGTCCGGCCTGGCAACAGAGTGAGATTCCAG GAAAGAAAAGAAAAGGAGGGGAGGGGAGGGAAGGGGAGGAGGGAGGGGAG GAGAGACGGGAGGGGAGGAGAGAGAGAGACAGAGAGAGAGAGAAAGGAAG GAAGGAAGGAAGGAAGAGGTTTAATAGAAAATCACTGTGGGAGCTAGGCA TGCTCACGCCTGTAGTCCCAACACTTTGGGAGGCTGAGGTGGACAGATCA CCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCAT CTCTACTAAAAATAAAAAAATTAGCTGGGCCTGGTGGCACGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02258.hp1 HG02683.hp1 others(5): Show HG00280.hp1 HG02258.hp1 HG02683.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0068 a0001c0001t0069 a0001c0001t0008 a0001c0001t0068 a0001c0001t0069	a0001c0001t0008g0275 a0001c0001t0008g0277 a0001c0001t0008g0278 others(5): Show a0001c0001t0008g0275 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0068g0276 a0001c0001t0069g0282	8	312	0.0256	-479	c.422 others(16): Show c.422-1217_422-739del	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding	4/8			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291259	TCCGTGTC others(472): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCC GTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCC CTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGT GTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCAC CGTCCGTGTCCCCCATGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	284	0.0035	-479	c.121 others(18): Show c.1214+761_1214+1239del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291357	GTGTCCCC others(472): Show GTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCC CCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGT CCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCC GTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGC ACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCC CCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCTC CGTGTCCCCCATGTCCCTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0067	1	284	0.0035	-479	c.121 others(18): Show c.1214+663_1214+1141del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
WDR70_chr5_37374318_37758435	37563104	GGGGCGGC others(472): Show GGGGCGGCTGGCTGGGCGGGGGGCTGACCTCCCGGCCTCCCTCCCGGATG GGGGGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAG GCAGAGGCGCCCCTCACTTTCCGGATGGGGCGGCTGGCCGGGCGGGGGGC TGGCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGTGCAGAGGGGCT CCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCAGG ATTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACATCCTTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02922.hp1 others(2): Show HG01243.hp2 HG02258.hp2 HG02922.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0044 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0135	5	242	0.0207	-479	c.918 others(19): Show c.918-41948_918-41470del	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
ASB5_chr4_176208673_176274222	176218690	TATATAAA others(471): Show TATATAAATATATATATATTTGTATGATATATACATTTGTATGATATATA AATATATATATTTGTATGATATATAAATATATATATTTGTATGATATATA AATATATATATTTGTATGATATATAAATATATATGTATGATATATAAATA TATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATA TATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATA TATGTATGATATATAAATATATATTTGTATGATATATAAATATATATATT TGTATGATATATAAATATATATGTATGATATATAAATATATATTTGTATG ATATATAAATATATATATTTGTATGATATATAAATATATATATATTTGTA TGATATATAAATATATATATATATTTGTATGATATATATATTTGTATGAT ATATAAATATATATTTGTATGACATATAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp2 NA20300.hp2 HG02723.hp1 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0035 a0001c0002t0007g0064 a0001c0002t0007g0065 a0001c0002t0007g0035 a0001c0002t0007g0064 a0001c0002t0007g0065	3	410	0.0073	-478	c.670 others(17): Show c.670+1987_671-1682del	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
CARD10_chr22_37485362_37524415	37509670	GGTACCTG others(471): Show GGTACCTGCTGCAGGCCCTCCTGACCCCCCCTCAACCCCCATGGCCACGA GGCCCAGCCCTGGTACCTGCTGCAGGTCCTTCTGACCTCCCCCGACCCCC ATGCCCATGGGCCCCAGCCCTGGTACCTGCTGCAGGCCCTCCTGACCTCC TGCCAGCCTGTGCCCACAAGCCCCAGCCCTGGTACCTACCGCAGGCCCTC CTGACCACCCCCCACCCCCGTGCCCATGGGCCCCAGCCCTGGTACCTGCT GCAGGCCCTCCTGACCTCCTGCCAGCCTGTGCCCACAAGCCCCAGCCCTG GTACCTACCGCAGGCCCTCCTGACCACCCCCCACCCCCGTGCCCATGGGC CCCAGCCCTGGTACCTGCTGCAGGCCCTCCTGAGCCCCGCTACCCAGCCT GTGCCCAGAAGCCCTGGCCCTGCTACCTGCTGCAGGCCTTCCTGATCCCC CACCCCGCAGCCTGTGCCCACAAGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp2 others(55): Show HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp2 NA18993.hp1 NA19054.hp1 NA19056.hp1 NA19062.hp1 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0017 others(1): Show a0001 a0005 a0017 a0018	a0001c0002 a0001c0003 a0001c0026 others(4): Show a0001c0002 a0001c0003 a0001c0026 a0001c0042 a0005c0017 a0017c0043 a0018c0044	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0026t0001 a0001c0026t0011 a0001c0042t0002 a0005c0017t0003 a0017c0043t0002 a0018c0044t0002	a0001c0002t0001g0203 a0001c0002t0002g0005 a0001c0002t0002g0006 others(49): Show a0001c0002t0001g0203 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0012 a0001c0002t0002g0061 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0216 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0003g0014 a0001c0002t0007g0187 a0001c0002t0007g0196 a0001c0003t0001g0008 a0001c0003t0001g0176 a0001c0003t0001g0178 a0001c0003t0001g0189 a0001c0003t0001g0194 a0001c0003t0001g0202 a0001c0003t0001g0218 a0001c0026t0001g0181 a0001c0026t0011g0015 a0001c0042t0002g0193 a0005c0017t0003g0002 a0005c0017t0003g0013 a0017c0043t0002g0201 a0018c0044t0002g0155	58	276	0.2101	-478	c.909 others(14): Show c.909+64_909+541del	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/19			chr22	TogoVar
CNN2_chr19_1021608_1044065	1029031	AATCCCAG others(471): Show AATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGGC AGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGGCAGGTCCAGCT CAGGGGACCCTAACCCAAATCATCCCAGGCAGGTCCAGCTCAGGGGACCC TACCCAAATCATTCCAGGCAGATCTAGCTCAGGGGACCCTAACCCAAATC ATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGGCA GGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGGCAGGTCCAGGTC AGGGGACCCTACCCAAATCATCCCAGGCAGGTCTAGCTCAGGGGACCCTA ACCCAAATCATCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCA TCCCAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCTAGGCAG GTCCAGCTCAGGGGACCCTAACCCAAATC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01346.hp1 others(7): Show HG01071.hp1 HG01123.hp1 HG01346.hp1 HG01934.hp1 HG01993.hp1 HG02148.hp1 HG02293.hp2 HG03654.hp1 HG03704.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0023 a0001c0002t0004 a0001c0002t0023	a0001c0002t0004g0005 a0001c0002t0004g0045 a0001c0002t0004g0046 others(2): Show a0001c0002t0004g0005 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0142 a0001c0002t0023g0005	10	390	0.0256	-478	c.64- others(15): Show c.64-1982_64-1505del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
DLG1_chr3_197037560_197303612	197084569	TAAAGTGC others(471): Show TAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCCATATTTTC TAGTTATGTCACTGGTTACAATTCCATTTGAATAAAATCAAATGGCTGTG AAACACAATATAAAAAACTGAGCATAAAATCATTTTAGTAAAATAAATTT ATTTTTTCAGTTCTGGTGATTATTTTTAATTTTTTTATGTGTATATTTTA TATATATAGATAGATATAGATATAGATATAGATATTTAGACAGAGTTTTG CTCTGTCTCCCAGGCTGGAGTGCAGTGGTGCAAACTCAGGTCACTGCAAT TTCGGCCTCCTGAGTTCAAGCAATTCTCCTGCCTAAGCCTCCCGAGCAGC TGGGACTACAGGCGTGTGCCTCCATGCCCAGGTAATTTTTGTATTTTTAG TAGAGACAGGCTTTCACCACGTTGGCCAGGCTCGTCTTGAACTCCTGACC TCAAGTGATCCACCCGCCTCAGCCTCCCA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0124 a0001c0001t0010g0124	1	332	0.0030	-478	c.183 others(18): Show c.1838+533_1838+1010del	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	16/24			chr3	TogoVar
HEATR4_chr14_73473484_73563947	73515671	CAAAAAAA others(471): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTCCTGTGAGACTCCAGGGC AGTTTAGCAAAGATGCCCATACAATGCATCTCCTCCAAATGGTCCCCACC AGCTTGGACGTGCTGGGGGACTCAGCCACTCTGCTGAGGCCTCCCTCCTT TCTGGGGTAGGGTGTGTGCAACTAGGAGCTGTGGAACCACCTCTGACAGG CCAGCTCACACTTTGCCATGTGACGCTCCCCGACTTCTCTCAGGCGATTT GAAATCCCTCCTGAAGAGATGAGAAGTAGCTGAATTAACCCCATTTCTCC TATATCCCTCTGCTCAAGGAGTTAAAATGGATTTGCGGTGAGCAAGTCTT AGATCTCTGATATTTAACCTCATAGGAATAAAAAATACAACTGCCAACTT TTACTTTGGTTCCAGTCCTTTGGGTTATAGCTGGATAGAAACACATCCAC TAGCCATCTTCCACATCAACAGTCATCAA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0341 a0001c0001t0003g0341	1	368	0.0027	-478	c.121 others(19): Show c.1211-1915_1211-1438del	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17			chr14	TogoVar
LMF1_chr16_848634_975984	953211	ACACCCAC others(471): Show ACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCA AACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCACCCCAAACCAGCTTCCTACACGTTCACACAGAC ACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAA CCAGCCTCCTACACGTTCACACAGACACGGACCCCACACCAGCCTCCTAC ACGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAG ACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCC TCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAA CCAGCCTCCTACATGTCCACACAGACACC	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	294	0.0034	-478	c.503 others(16): Show c.503+668_503+1145del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MVB12B_chr9_126321829_126512040	126484526	TCTTCCAC others(471): Show TCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGA GGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTG TGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTA CCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGA GGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGT GCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTAC CTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCGTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp1 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0036 a0001c0002t0011 a0001c0002t0036	a0001c0002t0011g0152 a0001c0002t0036g0150 a0001c0002t0011g0152 a0001c0002t0036g0150	2	318	0.0063	-478	c.873 others(16): Show c.873+675_873+1152del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVB12B_chr9_126321829_126512040	126484886	TTCCACTG others(471): Show TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCGTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACT TCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGT CAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCT TCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTT CCACTGTGCTTCATGAGGTCAGGGTACCG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00544.hp1 others(69): Show HG00140.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG03139.hp1 HG03139.hp2 HG03490.hp1 HG03492.hp2 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18959.hp1 NA18965.hp1 NA18970.hp1 NA18973.hp2 NA18983.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0002t0006 a0001c0002t0055 a0001c0003t0001 a0001c0003t0019 a0001c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(69): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0002g0019 a0001c0001t0002g0108 a0001c0001t0006g0056 a0001c0001t0006g0277 a0001c0001t0014g0071 a0001c0001t0014g0310 a0001c0001t0014g0311 a0001c0001t0014g0312 a0001c0001t0016g0022 a0001c0001t0016g0023 a0001c0001t0016g0029 a0001c0001t0018g0078 a0001c0001t0018g0079 a0001c0001t0018g0080 a0001c0001t0024g0074 a0001c0001t0024g0076 a0001c0001t0025g0026 a0001c0001t0025g0031 a0001c0001t0027g0053 a0001c0001t0027g0054 a0001c0001t0041g0066 a0001c0001t0043g0075 a0001c0001t0045g0057 a0001c0001t0046g0077 a0001c0002t0006g0140 a0001c0002t0006g0141 a0001c0002t0006g0170 a0001c0002t0006g0171 a0001c0002t0055g0206 a0001c0003t0001g0178 a0001c0003t0001g0205 a0001c0003t0019g0238 a0001c0004t0001g0043 a0001c0004t0001g0051	72	318	0.2264	-478	c.873 others(16): Show c.873+913_873+1390del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYOM2_chr8_2040046_2150456	2085598	CTGTCGTG others(471): Show CTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCC CCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGC CCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATC TCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTC GTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0044 a0044	a0044c0193 a0044c0193	a0044c0193t0001 a0044c0193t0001	a0044c0193t0001g0182 a0044c0193t0001g0182	1	403	0.0025	-478	c.164 others(17): Show c.1644+209_1644+686del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
RNF223_chr1_1065967_1079306	1076227	TGGCTGAG others(471): Show TGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGCTGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGG AGGCTGAGTCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGGCT ATGGTGACTCCGTGCAGGGCTGTGAGGCTACGGGGACTCCGTGGGGGGTG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG03041.hp2 NA18522.hp2 others(1): Show HG02129.hp2 HG03041.hp2 NA18522.hp2 NA19000.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0011 a0005c0007t0013 a0001c0001t0001 a0001c0001t0011 a0005c0007t0013	a0001c0001t0001g0001 a0001c0001t0011g0017 a0005c0007t0013g0056 a0001c0001t0001g0001 a0001c0001t0011g0017 a0005c0007t0013g0056	4	324	0.0124	-478	c.-26 others(11): Show c.-2699_-2222del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1922		chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280776	CCTGTCAT others(471): Show CCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCT GTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCT GTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTC ACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGT CACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCAT CTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTC CCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCT TGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAG CCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAG TCACCCTGTCACCTCCCTTGGCCACCCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp2 HG02717.hp2 others(2): Show HG01243.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG03225.hp1	a0001 a0007 a0001 a0007	a0001c0004 a0001c0008 a0001c0010 others(1): Show a0001c0004 a0001c0008 a0001c0010 a0007c0023	a0001c0004t0004 a0001c0004t0016 a0001c0008t0032 others(2): Show a0001c0004t0004 a0001c0004t0016 a0001c0008t0032 a0001c0010t0074 a0007c0023t0093	a0001c0004t0004g0078 a0001c0004t0016g0008 a0001c0008t0032g0010 others(2): Show a0001c0004t0004g0078 a0001c0004t0016g0008 a0001c0008t0032g0010 a0001c0010t0074g0071 a0007c0023t0093g0268	5	280	0.0179	-478	c.484 others(18): Show c.484+9792_484+10269del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SLC1A7_chr1_53082183_53147638	53129453	ACATTGTG others(471): Show ACATTGTGACAGATGAAGCCACCACTGGTCAAGCGTGGGCTGCACTCAGT TGGACTGAAGCACACATGTCTGAGGAGGGACTTGGGCCAGGGGCTGGGTT GGAGAAATTCTAGAAAAAAAAGAGCCCACAGCTGGAAGATGCCAGATTAT GGGAAGAGTGACTGAACTCAGCTCCAACCCCGCTGGCCCCACTGCCCTCC CACTGGGCCTCCTTTCTCCAGAGCAAGGTGTGCCTGTGACCCCTCCATGG CAGCCCAGGGGCCTTTCAGCCCTCACGTCCACCCTTGCAGTCACCCACAC TTCTTTACACCTCACCACCTCCCTTTGCTTGTTGTTTAGATCTCCAACTT CTGAACGAATCTGTCACGCTGAGTACCAGGCAGAGGTCAGTGTGAAAGAC AAGGGGGTCAATGACCTGATCCCCTCCTGGGATCTCAGAAAAAAACAAAG ATGCACACGACCCTGCCCACGGAGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp2 others(81): Show HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02080.hp1 HG02080.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0002 a0001c0003 a0001c0006 others(11): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0016 a0001c0028 a0002c0001 a0003c0013 a0005c0030 a0007c0027	a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 others(16): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 a0001c0003t0003 a0001c0003t0006 a0001c0006t0005 a0001c0007t0004 a0001c0008t0006 a0001c0008t0014 a0001c0008t0024 a0001c0010t0002 a0001c0012t0005 a0001c0014t0006 a0001c0016t0009 a0001c0028t0017 a0002c0001t0001 a0003c0013t0001 a0005c0030t0003 a0007c0027t0002	a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0016 others(71): Show a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0098 a0001c0002t0002g0112 a0001c0002t0002g0160 a0001c0002t0002g0169 a0001c0002t0002g0181 a0001c0002t0002g0184 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0213 a0001c0002t0002g0219 a0001c0002t0005g0173 a0001c0002t0011g0183 a0001c0003t0003g0014 a0001c0003t0003g0176 a0001c0003t0003g0189 a0001c0003t0003g0206 a0001c0003t0003g0211 a0001c0003t0006g0056 a0001c0003t0006g0170 a0001c0003t0006g0171 a0001c0003t0006g0180 a0001c0003t0006g0207 a0001c0006t0005g0002 a0001c0006t0005g0004 a0001c0006t0005g0177 a0001c0006t0005g0182 a0001c0006t0005g0199 a0001c0006t0005g0201 a0001c0006t0005g0216 a0001c0006t0005g0217 a0001c0006t0005g0236 a0001c0006t0005g0237 a0001c0007t0004g0175 a0001c0007t0004g0185 a0001c0007t0004g0346 a0001c0008t0006g0031 a0001c0008t0006g0150 a0001c0008t0014g0027 a0001c0008t0024g0358 a0001c0010t0002g0172 a0001c0010t0002g0210 a0001c0012t0005g0193 a0001c0014t0006g0203 a0001c0016t0009g0166 a0001c0028t0017g0033 a0002c0001t0001g0015 a0002c0001t0001g0179 a0002c0001t0001g0186 a0002c0001t0001g0191 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0212 a0002c0001t0001g0218 a0002c0001t0001g0248 a0003c0013t0001g0214 a0003c0013t0001g0249 a0005c0030t0003g0215 a0007c0027t0002g0174	84	400	0.2100	-478	c.215 others(17): Show c.215+4419_215+4896del	SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	2/10			chr1	TogoVar
TMEM41B_chr11_9275654_9319593	9315241	TTTTCCAC others(471): Show TTTTCCACAGGTAACTTTTTCTGCTTCTACCCCTCAGAGCACATTCAGCT TACTCACCGTGGTTACCTCTTGAAAGCAACTTAGAGGCCGGTCGCGGTGG CTCAAGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGCGGATCATT TGAGACCAGGAGTGTGAGGCCAGACTGGCCAAAATGGTGAGATGAGACCC CGTCTCTGCTAAAAATACAAAAATGAGCTGGACATGATGGCTTGTAATCC CAGCTACTCGAGAGTGTGAGTCAGGAGAATCGCTTGAACCCCGGAGGCTG AGGTTGCGGTGAGAAATTGCACCGCTGCACTCCAGCATAGACCACAAAGC AAGACTCCGTCCCAAAAAAAAAAAAAAAAAATCCTGATTGTTTCTATTCA GTAATTACATTTGTAGGAAATTATTCCATGAAAATAAACATAAATAATTC CTCTGTATTAGTATAACAGTGAAAAACTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	370	0.0027	-478	c.-12 others(10): Show c.-1278_-801del	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding		649		chr11	TogoVar
ADARB2_chr10_1172313_1742525	1235732	CTGCTTTC others(470): Show CTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTAC AGGCGAGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAAT TTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTC TGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGG TTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAG AGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAA CCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGC GGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAAC TCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCG GAGTGGGCGCTGAACGAACATGCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0018	1	106	0.0094	-477	c.136 others(19): Show c.1362-2364_1362-1888del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AP3D1_chr19_2095988_2156566	2128553	AGCTCCGA others(470): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03540.hp1 HG02896.hp1 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0002 a0001c0001t0001 a0001c0008t0002	a0001c0001t0001g0070 a0001c0008t0002g0184 a0001c0008t0002g0185 a0001c0001t0001g0070 a0001c0008t0002g0184 a0001c0008t0002g0185	3	406	0.0074	-477	c.806 others(14): Show c.806+60_806+536del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP20_chr11_110572043_110717437	110618912	GCAGTGAT others(470): Show GCAGTGATAGAGTATATGCAGTGATAGAGTATATGCAGTGAGAGTGTATG CAGTGATAGAGTATATGCAGTGATAGCATATATGTAGTGATAGAGTGTAT GCAGTGATAGAGTGTATGCAGTGATAGAGTGTATGCAGTGATAGAGTATA TGCAGTGATAGCATATATGTAGAGTGTATGCAGTGATAGAGTATATGCAG TGATAGAGTATATGCAGTGGTAGAGTATATGCAGTGATAGAGTATATGCA GTGATAGAGTATATGCAGTGAGAGTGTATGCAGTGATAGAGTATATGCAG TGATAGCATATATGTAGTGATAGAGTGTATGCAGTGATAGAGTGTATGCA GTGATAGAGTGTATGCAGTGATAGAGTATATGCAGTGATAGCATATATGT AGAGTGTATGCAGTGATAGGGTATATGCAGTGATAGAGTATATGTAGTGA TAGCATATATGTAGAGTATATGCAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0015 a0011c0018t0015	a0011c0018t0015g0007 a0011c0018t0015g0007	1	226	0.0044	-477	c.504 others(17): Show c.504-3795_504-3319del	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding	4/14			chr11	TogoVar
FOXN3_chr14_89151177_89422233	89362194	ACCACTAC others(470): Show ACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACCAC CACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCA CCACCACCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGC ACCACCACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCAC CTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCT CCAGCACCAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACC ACCATCTCCACCACCACCACCACCATCTCTACGACCACCACCACCACCAT CTCCACCACCACCTCCACCACCACCACCACCACCATCTCTACGACCACCA CCACCACCACCATCTCTACGACCACCACCACCTCCACCACCATCTCCACC ACCACCACCACCATCTCCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02155.hp1 HG00738.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0078 a0001c0001t0015 a0001c0001t0078	a0001c0001t0015g0140 a0001c0001t0078g0067 a0001c0001t0015g0140 a0001c0001t0078g0067	2	230	0.0087	-477	c.544 others(19): Show c.544-11863_544-11387del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805563	CCCCTCAG others(470): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0002 a0005c0005t0001g0002	2	314	0.0064	-477	c.13 others(11): Show c.1398_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1277		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805785	CTCCCCCC others(470): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	314	0.0032	-477	c.16 others(11): Show c.1620_*2096del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1499		chr2	TogoVar
HEATR4_chr14_73473484_73563947	73515671	CAAAAAAA others(470): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTCCTGTGAGACTCCAGGGC AGTTTAGCAAAGATGCCCATACAATGCATCTCCTCCAAATGGTCCCCACC AGCTTGGACGTGCTGGGGGACTCAGCCACTCTGCTGAGGCCTCCCTCCTT TCTGGGGTAGGGTGTGTGCAACTAGGAGCTGTGGAACCACCTCTGACAGG CCAGCTCACACTTTGCCATGTGACGCTCCCCGACTTCTCTCAGGCGATTT GAAATCCCTCCTGAAGAGATGAGAAGTAGCTGAATTAACCCCATTTCTCC TATATCCCTCTGCTCAAGGAGTTAAAATGGATTTGCGGTGAGCAAGTCTT AGATCTCTGATATTTAACCTCATAGGAATAAAAAATACAACTGCCAACTT TTACTTTGGTTCCAGTCCTTTGGGTTATAGCTGGATAGAAACACATCCAC TAGCCATCTTCCACATCAACAGTCATCA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp2 others(13): Show HG00323.hp1 HG00323.hp2 HG00558.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp2 HG02148.hp2 HG02451.hp2 HG02723.hp2 NA18612.hp2 NA18977.hp2 NA19007.hp1 NA19007.hp2 NA19086.hp1 NA19086.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0017 a0001c0021 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0009t0005 a0001c0017t0003 a0001c0021t0003 a0003c0005t0003	a0001c0001t0001g0084 a0001c0001t0002g0267 a0001c0001t0003g0242 others(13): Show a0001c0001t0001g0084 a0001c0001t0002g0267 a0001c0001t0003g0242 a0001c0001t0003g0338 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0002t0001g0124 a0001c0002t0002g0277 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0003t0003g0192 a0001c0009t0005g0007 a0001c0017t0003g0339 a0001c0021t0003g0342 a0003c0005t0003g0151	16	368	0.0435	-477	c.121 others(19): Show c.1211-1914_1211-1438del	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17			chr14	TogoVar
MCPH1_chr8_6401627_6653508	6422920	CCTTGTGA others(470): Show CCTTGTGATCCGCCCTCCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGT GAGCCACTGTGCCCGGCCAATTTTTATATTTTTAGGAGAGACAGGGTTTC ACCATGTTGGCCAGGCTGGTTTAACTCCTGACCTCAGGTGATCCGCCCAC CTTGGCCTCCCAAAGTGCTAGGATTACAGGTAAGAGCCACCGTGCCTGGC AAAAGCACACTTTTAAGGTCCTCAGAAGCTCAAAAGTGAACTTAATCTTT TGGCATTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTGAAACTGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCA TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACC ACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCCATCTCCTGAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp1 HG03209.hp2 others(4): Show HG02622.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 NA18522.hp1 NA20300.hp1 NA21309.hp2	a0019 a0029 a0042 others(1): Show a0019 a0029 a0042 a0043	a0019c0056 a0019c0057 a0019c0059 others(4): Show a0019c0056 a0019c0057 a0019c0059 a0029c0058 a0029c0060 a0042c0061 a0043c0055	a0019c0056t0015 a0019c0057t0071 a0019c0059t0036 others(4): Show a0019c0056t0015 a0019c0057t0071 a0019c0059t0036 a0029c0058t0025 a0029c0060t0007 a0042c0061t0076 a0043c0055t0027	a0019c0056t0015g0222 a0019c0057t0071g0216 a0019c0059t0036g0223 others(4): Show a0019c0056t0015g0222 a0019c0057t0071g0216 a0019c0059t0036g0223 a0029c0058t0025g0224 a0029c0060t0007g0215 a0042c0061t0076g0039 a0043c0055t0027g0214	7	262	0.0267	-477	c.233 others(17): Show c.233+8052_234-8088del	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085637	CTTTGTGG others(470): Show CTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGAT CTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTG TGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACT GTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCA CTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCC CCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTG GCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGA TCTCTGCGTGGCCCCCCACTGTTGTGAT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0078 a0078	a0078c0115 a0078c0115	a0078c0115t0001 a0078c0115t0001	a0078c0115t0001g0203 a0078c0115t0001g0203	1	403	0.0025	-477	c.164 others(17): Show c.1644+248_1644+724del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158667303	ACCCTTAG others(470): Show ACCCTTAGCCGCTACTGTGTCCCTCCGCTACTGTGTCCCTCCGCTCCTTA GCCACTACCGGATCCCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGG TCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCGCT TACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGG TCCCTCCGCCTTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCGCCCTCC CTTACCCACTACTGGGTCCCTCCGCCCT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	378	0.0053	-477	c.148 others(19): Show c.1480-3030_1480-2554del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667320	TGTCCCTC others(470): Show TGTCCCTCCGCTACTGTGTCCCTCCGCTCCTTAGCCACTACCGGATCCCT CCGCCCCCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTA CCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCTACCCTGTGGCCCTCCACCCGCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACC CTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTA CCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGT CCCTCCGCCCTCCCTTACCCACTACTGG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	378	0.0027	-477	c.148 others(19): Show c.1480-3047_1480-2571del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)