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
CCKAR_chr4_26476396_26495484	26492437	CTTCCTTT others(271): Show CTTCCTTTCCTTTCTTCCCTCCCTTCCTCCTTTCTTTCTCTCTCTCTTTC TTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTTTTCTTTCTTTCTCTCTTT CTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCCTTTCTTTCTCTC TCTCTTTCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTTTTCTCTTTCT TTCTTTCTCTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03579.hp1 HG02559.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0006t0001 a0001c0001t0006 a0001c0006t0001	a0001c0001t0006g0130 a0001c0006t0001g0076 a0001c0001t0006g0130 a0001c0006t0001g0076	2	454	0.0044	-278	c.-24 others(11): Show c.-2448_-2171del	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		1954		chr4	TogoVar
CDK12_chr17_39456486_39539544	39498930	TCTTTCTT others(271): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01361.hp1 HG03098.hp1 others(1): Show HG00741.hp2 HG01361.hp1 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0233 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236	4	260	0.0154	-278	c.242 others(19): Show c.2420-2319_2420-2042del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13			chr17	TogoVar
CDK12_chr17_39456486_39539544	39498931	CTTTCTTT others(271): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0077 a0001c0001t0008g0077	1	260	0.0039	-278	c.242 others(19): Show c.2420-2315_2420-2038del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CEP72_chr5_607340_658553	650406	CTGTGGGT others(271): Show CTGTGGGTGTGAGGTGTGACTGTGAGGCGTGGACTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACT GTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGTGTGACTGTGGGTGTGAGGTGTGACTG TGAGGCGTGGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCGTGGACTGTGAGGTGTGACTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA20129.hp2 HG02451.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0014 a0003c0005t0002g0019 a0003c0005t0002g0014 a0003c0005t0002g0019	2	91	0.0220	-278	c.177 others(19): Show c.1778+2493_1779-2302del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79782013	TGTCAATT others(271): Show TGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATA AATTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGT GGTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCA TTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCAT GTAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGAT TGCACTGTGGTCTGAGAGATAGTTTGTTA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0002 a0011c0012t0002	a0011c0012t0002g0273 a0011c0012t0002g0273	1	358	0.0028	-278	c.115 others(21): Show c.11556-6957_11556-6680del	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12			chr5	TogoVar
CRPPA_chr7_16082525_16426538	16423355	GTTTGGCA others(271): Show GTTTGGCACAATACTTGACTTCATAGCGCCACTACCACACCTGTATCAAG CATTTAAATATCTGTTGACTAACTGGGTGGATAAATAAATGAGTCTATCT ATGAGAGCAGGAAGGCAAATCGAATTAGTATTTCTATTAATATTGATCTT TAAACCTCCCTTTTTAATCTAAAGGTGGAGTTGTTATAAAGGTATTCTTC CTTTACTTAATCTTGAGTGAAGAAAAGTAGAGTAATAAAGCTCTTGTTAT ACTAATTGCTATAGAATAATTTTATATAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0221 a0002c0002t0012g0221	1	290	0.0035	-278	c.-23 others(11): Show c.-2311_-2034del	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding		1818		chr7	TogoVar
CSNKA2IP_chr3_88333456_88472594	88404580	CCTCTCCA others(271): Show CCTCTCCATTTACTCTTTGTTTCTCTCTTTCTAGAAACACGACTTTATAA CCTATTATTATCCATACAACTCCATCATTCTGAGTTGTACTTCCTCTTGT GCTGTGTTAATACTTATTTGCCCCTAATTCTTAAGTTGATGTCTTTTTCT CTTCGAACTTTTGTTCTATTTCTTCCTTTGTCCAAACATCACCGCTCTCT GCCTTCATTTATTCCTTTAGATTGAAAAAAATTCTTTGTGTGACTAAAGT TTCTTAAAGCTTCTGAACCTTCTACCAGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp2 others(50): Show HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01358.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp1 HG02451.hp2 HG02895.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 NA18944.hp2 NA18953.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18968.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18990.hp1 NA19000.hp2 NA19001.hp2 NA19009.hp1 NA19054.hp2 NA19056.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19081.hp1 NA19084.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0014 a0015	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0014c0023 a0015c0026	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0014c0023t0001 a0015c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0054 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0234 a0001c0004t0001g0061 a0001c0004t0001g0090 a0001c0004t0001g0204 a0001c0004t0001g0236 a0002c0002t0001g0014 a0002c0002t0001g0036 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0063 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0091 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0088 a0014c0023t0001g0070 a0015c0026t0001g0069	53	386	0.1373	-278	c.-27 others(21): Show c.-270-60505_-270-60228del	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
DDX51_chr12_132131594_132149319	132135075	CCCGAGTG others(271): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCC CACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACT CCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0004 a0019c0030t0004	a0019c0030t0004g0074 a0019c0030t0004g0074	1	334	0.0030	-278	c.39 others(11): Show c.3919_*4196del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1518		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1643668	CCCTCCAA others(271): Show CCCTCCAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCC TCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCA ACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTG TGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCC GGCCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCACC CTCGACCCCGCCGGCCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-278	c.181 others(21): Show c.1810+10625_1810+10902del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
HACL1_chr3_15555699_15606569	15592740	ACGCACAT others(271): Show ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGT GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGC ACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACAT GTACGCACATGTGTGCGTGTATACACATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02258.hp2 others(3): Show HG01891.hp1 HG02145.hp1 HG02258.hp2 HG02630.hp2 HG02895.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041	6	428	0.0140	-278	c.228 others(17): Show c.228-1338_228-1061del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592756	GTATACAC others(271): Show GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGC ACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACAT GTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTAT ACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGC GTGTATACACATGTACGCATATGTACATA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA19003.hp2 NA19055.hp1 others(3): Show HG01952.hp2 NA19003.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0084	6	428	0.0140	-278	c.228 others(17): Show c.228-1354_228-1077del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HAUS1_chr18_46099385_46133333	46112446	GTATATAT others(271): Show GTATATATTCCATATTATATATATAATATATATAATGTGTATATATTCCA TATTATATATATAATATATATAATGTGTATATATATTCCATATTATATAT ATAATATATATAATGTGTATATATATTCCATATTATATATATAATATATA TAATGTGTATATATATTCCATATTATATATATAATATATATAATGTGTAT ATATATTCCATATTATATATATAATATATATAATGTGTATATATATTCCA TATTATATATATAATATATATAATGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	372	0.0027	-278	c.206 others(17): Show c.206-5689_206-5412del	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	904195	GTGGTGAC others(271): Show GTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTCGTGG TGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGATGTGTGGTGGTGAC CTCTGCACTGCCTGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTC TGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGCAT CGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCC TGTGGGGACGCCCGTCTCTGCTGCGTGGT	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0130 a0001c0005t0001g0130	1	294	0.0034	-278	c.663 others(17): Show c.663+6458_663+6735del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
MAEA_chr4_1284891_1345137	1333851	GCCCACCC others(271): Show GCCCACCCCCATGCCCGTGCTCACCTCTGCACCCACCCCATGCCCACCCC CATGCCCACCTGTGCTCACCCCCATGCCCACTCCCGTGCCCATGTGCCCA CCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCAT GCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCTCACC CCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGC CTACCGTGCTCACCCCCATGCCCACCCCA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18954.hp1 NA18960.hp2 others(2): Show HG03927.hp2 NA18954.hp1 NA18960.hp2 NA18980.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 others(2): Show a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362	5	388	0.0129	-278	c.765 others(16): Show c.765+987_765+1264del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8			chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19452108	GAGAAGAG others(271): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGA AGAGAAGAGAAGAGAAGAGAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0138 a0002c0002t0003g0138	1	163	0.0061	-278	c.995 others(17): Show c.995+4527_995+4804del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MYO3B_chr2_170173147_170660167	170483369	GGGATTCT others(271): Show GGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCTGCCTCGGCCTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02055.hp2 others(26): Show HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0006 others(14): Show a0001 a0002 a0006 a0008 a0009 a0011 a0012 a0014 a0018 a0019 a0023 a0025 a0026 a0027 a0028 a0030 a0032	a0001c0002 a0001c0004 a0001c0028 others(23): Show a0001c0002 a0001c0004 a0001c0028 a0002c0006 a0006c0021 a0006c0036 a0006c0058 a0006c0078 a0008c0017 a0008c0046 a0008c0056 a0009c0016 a0009c0020 a0011c0033 a0011c0055 a0012c0024 a0014c0049 a0018c0031 a0019c0034 a0023c0075 a0025c0043 a0026c0029 a0027c0068 a0028c0052 a0030c0051 a0032c0080	a0001c0002t0001 a0001c0004t0006 a0001c0028t0001 others(26): Show a0001c0002t0001 a0001c0004t0006 a0001c0028t0001 a0002c0006t0003 a0002c0006t0013 a0006c0021t0001 a0006c0021t0025 a0006c0036t0021 a0006c0058t0022 a0006c0078t0001 a0008c0017t0004 a0008c0046t0023 a0008c0056t0004 a0009c0016t0006 a0009c0020t0006 a0011c0033t0009 a0011c0055t0004 a0012c0024t0003 a0012c0024t0014 a0014c0049t0019 a0018c0031t0008 a0019c0034t0013 a0023c0075t0004 a0025c0043t0009 a0026c0029t0002 a0027c0068t0017 a0028c0052t0004 a0030c0051t0004 a0032c0080t0016	a0001c0002t0001g0142 a0001c0004t0006g0013 a0001c0028t0001g0083 others(26): Show a0001c0002t0001g0142 a0001c0004t0006g0013 a0001c0028t0001g0083 a0002c0006t0003g0107 a0002c0006t0013g0006 a0006c0021t0001g0148 a0006c0021t0025g0082 a0006c0036t0021g0087 a0006c0058t0022g0129 a0006c0078t0001g0111 a0008c0017t0004g0156 a0008c0046t0023g0005 a0008c0056t0004g0122 a0009c0016t0006g0007 a0009c0020t0006g0080 a0011c0033t0009g0151 a0011c0055t0004g0127 a0012c0024t0003g0074 a0012c0024t0014g0126 a0014c0049t0019g0003 a0018c0031t0008g0157 a0019c0034t0013g0170 a0023c0075t0004g0077 a0025c0043t0009g0012 a0026c0029t0002g0071 a0027c0068t0017g0115 a0028c0052t0004g0125 a0030c0051t0004g0130 a0032c0080t0016g0078	29	174	0.1667	-278	c.301 others(21): Show c.3015-15213_3015-14936del	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	25/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
NOS1AP_chr1_162064691_162375475	162125507	CTCAGCAT others(271): Show CTCAGCATCATTTGTTGAATAGGTGTCCTTTCCCCGAGGTATGTTTTTGT ATGTTTTGTTGAAACTTGGTTGGTTGTAAGTATTTGGCTTTATTTCTGGG TTCTTTATTCTGTTCCATTGATGTGTGTATCTGCTTTTACTAGTACCATG CTGTTTTGGTTACTATAGCCTTGTAGTATAATTTGATGTCCAATAATGTG ATTCCTCCAGATTTGTTCTTTTTGCTTAGGATTGCTTTGGTTATTTGGGC TCTTTTTTGGTTCCATATGAATTTTAGGA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0006 a0001c0001t0011g0006	1	182	0.0055	-278	c.106 others(19): Show c.106-28896_106-28619del	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31511060	CATACATA others(271): Show CATACATATATATGTATATCTATATGTAACATACATATGTATATCTATAT GTAACATACATATGTATATCTATATGTAACATACATATGTATATCTATAT GTAACATACATATGTATATCTATATGTAACACACATATGTATATCTATAT GTAACACACATACATATGTATATCTATATGTAACACACATACATATGTAT ATCTATATGTAACACACATACATATGTATATCTATATGTAACACACATAT ATATGTATATCTATATGTAACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0024 a0001c0001t0040g0024	1	244	0.0041	-278	c.894 others(17): Show c.894-7520_894-7243del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PKP3_chr11_389209_409908	400810	CGCCCCGC others(271): Show CGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGAC CCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGC TCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCC GGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCGGCCCGCTCACACCCG	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18947.hp2 NA18966.hp2 others(1): Show NA18612.hp2 NA18947.hp2 NA18966.hp2 NA19067.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0009t0001 a0001c0005t0001 a0001c0009t0001	a0001c0005t0001g0082 a0001c0005t0001g0083 a0001c0009t0001g0104 others(1): Show a0001c0005t0001g0082 a0001c0005t0001g0083 a0001c0009t0001g0104 a0001c0009t0001g0129	4	216	0.0185	-278	c.173 others(17): Show c.1737+117_1737+394del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RPS6KA6_chrX_84053350_84193199	84191575	CATATATA others(271): Show CATATATATATATATCCATATATATATCCATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0141 a0001c0001t0064g0141	1	272	0.0037	-278	c.-39 others(11): Show c.-3954_-3677del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3377		chrX	TogoVar
SIGIRR_chr11_400716_419999	400810	CGCCCCGC others(271): Show CGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGAC CCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGC TCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCC GGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCGGCCCGCTCACACCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	242	0.0041	-278	c.48 others(11): Show c.4808_*5085del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4905		chr11	TogoVar
SKI_chr1_2223319_2315213	2280864	AGGACGCC others(271): Show AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCT TCAGAGAGAGGATGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0309 a0001c0001t0050g0309	1	330	0.0030	-278	c.970 others(19): Show c.970-22111_970-21834del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281468	AGGACGCC others(271): Show AGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAG GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0156 a0001c0001t0082g0156	1	330	0.0030	-278	c.970 others(19): Show c.970-21507_970-21230del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281640	AGGATGCC others(271): Show AGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTG GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03017.hp1 HG03669.hp2 HG02145.hp2 HG03017.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0068 a0001c0001t0001 a0001c0001t0006 a0001c0001t0068	a0001c0001t0001g0132 a0001c0001t0006g0142 a0001c0001t0068g0145 a0001c0001t0001g0132 a0001c0001t0006g0142 a0001c0001t0068g0145	3	330	0.0091	-278	c.970 others(19): Show c.970-21335_970-21058del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070874	GAGCCCCC others(271): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0071	1	118	0.0085	-278	c.224 others(19): Show c.2241+2481_2241+2758del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SWAP70_chr11_9659077_9757993	9705748	CTGGTGAT others(271): Show CTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATG CACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTA TACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTG TATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATC TGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCACTGGTGA TCTGTATACACTGGTGATCTGTGTATACT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG02559.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0092 a0001c0002t0011g0095 a0001c0002t0011g0092 a0001c0002t0011g0095	2	294	0.0068	-278	c.241 others(17): Show c.241-7669_241-7392del	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
TCF3_chr19_1604292_1657615	1628424	CAGGGGGT others(271): Show CAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGG CAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGAAAGGGGACAGCAGAGCTCACAG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0197 a0001c0002t0013g0197	1	352	0.0028	-278	c.299 others(16): Show c.299-1276_299-999del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TFDP1_chr13_113579753_113646473	113593609	CCCAGGTG others(271): Show CCCAGGTGACAGTTGTGCTGTGTGCAGGTCCTCACCCACCCAGGTGACAG GTGTGGTGTACACGGGTCCTCAGCTGTGCCCAGGTGACAGGTGTGGTGTA CGTGGGTCCTCAGCCCTGCCCAGGTGATAGGTGTGGTGTGCGCGGGTCCT CAGCCGTGCCCAGGTGACAGGTGTGCTGTGCACGCGTCCTCAGCTATACA CAGGTGTCAGGCGTGATGCGTGTGGGTCCTCAGCCCTGCCCAGGTGACAG GTGTGCTGTGTGCTGATCCTCAGCCCTGT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	348	0.0029	-278	c.12+ others(15): Show c.12+7772_12+8049del	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
ZNF516_chr18_76352682_76500242	76393960	GGGCAGGT others(271): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA GGGCAGGTAGTCAGGTGGGAAGCCGGGAA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19080.hp2 NA19081.hp2 NA18948.hp2 NA19080.hp2 NA19081.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0001c0001t0009 a0005c0008t0045 a0001c0001t0002 a0001c0001t0009 a0005c0008t0045	a0001c0001t0002g0253 a0001c0001t0009g0334 a0005c0008t0045g0138 a0001c0001t0002g0253 a0001c0001t0009g0334 a0005c0008t0045g0138	3	346	0.0087	-278	c.181 others(21): Show c.1811-13935_1811-13658del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADGRL3_chr4_61195326_62083335	61633411	GTGTTGGA others(270): Show GTGTTGGAGCTGACTATTGGAGCAACTCTAATGCCAATTTTTCTTACTCT CTTATTATTGAAGGTGTAACTTGATAAAACTGTACCTGCGTTGCAGTTTG GGGTTTTAAAGTGTGAGTATTGTTTTGACACACACACTTAGGCTTGACAT CATGTATTATTTTATTTGGTCCTGGCAGAACCCTGTGAAGATTATAGACA TTGTTATTCTATATAATGAAGGAGTGAACTGCACGTTAGAGAAAGTCAAT TGGATTGTGTCCTCATATACATAGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01884.hp1 others(4): Show HG01167.hp1 HG01169.hp2 HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02486.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0002c0015	a0001c0002t0018 a0001c0002t0026 a0001c0003t0007 others(4): Show a0001c0002t0018 a0001c0002t0026 a0001c0003t0007 a0001c0003t0037 a0001c0004t0011 a0001c0009t0023 a0002c0015t0001	a0001c0002t0018g0037 a0001c0002t0026g0027 a0001c0003t0007g0039 others(4): Show a0001c0002t0018g0037 a0001c0002t0026g0027 a0001c0003t0007g0039 a0001c0003t0037g0045 a0001c0004t0011g0015 a0001c0009t0023g0043 a0002c0015t0001g0044	7	58	0.1207	-277	c.474 others(19): Show c.474-43138_474-42862del	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AP3D1_chr19_2095988_2156566	2128442	GCACTGCA others(270): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCG CCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp1 HG02257.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0005 a0001c0001t0001 a0001c0023t0005	a0001c0001t0001g0180 a0001c0023t0005g0059 a0001c0001t0001g0180 a0001c0023t0005g0059	2	406	0.0049	-277	c.806 others(15): Show c.806+371_806+647del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGEF10_chr8_1818926_1963641	1888283	AGGAGGGG others(270): Show AGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATGTTGAC TGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGGAGATACTGAGGTGA TAGTTTTGAGGAGACAGTGGGGTGAGAGTTGTGAGGAGACACTGAGTGTG GAGGGCTGTGAGGAGGCACTGAGTGGGGTGAGGGGTATTGAGGAGACACT GAGTGGGGTAAGAAGTCTGTGGAGATACTGAGTGGGGTGAGGGGTCTGTG AGGAGACGCTGAGTGGGGTGAGGTATGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp1 others(8): Show HG00423.hp1 HG00544.hp1 HG00621.hp1 HG02132.hp1 NA18951.hp2 NA18960.hp1 NA18965.hp1 NA18965.hp2 NA18970.hp2 NA18975.hp1 NA19012.hp1	a0002 a0014 a0018 a0002 a0014 a0018	a0002c0032 a0002c0054 a0002c0060 others(7): Show a0002c0032 a0002c0054 a0002c0060 a0002c0061 a0002c0078 a0002c0080 a0002c0081 a0002c0152 a0014c0107 a0018c0083	a0002c0032t0004 a0002c0054t0002 a0002c0060t0012 others(7): Show a0002c0032t0004 a0002c0054t0002 a0002c0060t0012 a0002c0061t0025 a0002c0078t0002 a0002c0080t0022 a0002c0081t0003 a0002c0152t0002 a0014c0107t0004 a0018c0083t0002	a0002c0032t0004g0173 a0002c0054t0002g0020 a0002c0054t0002g0023 others(8): Show a0002c0032t0004g0173 a0002c0054t0002g0020 a0002c0054t0002g0023 a0002c0060t0012g0284 a0002c0061t0025g0292 a0002c0078t0002g0036 a0002c0080t0022g0035 a0002c0081t0003g0133 a0002c0152t0002g0019 a0014c0107t0004g0135 a0018c0083t0002g0244	11	363	0.0303	-277	c.118 others(19): Show c.1182+2581_1182+2857del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF1_chr19_41878184_41912452	41894799	ACCTGGGT others(270): Show ACCTGGGTCTGAGGGAGGAGGGGCTGGGGGAGCTCCTGGGTCTGAGGGAG GAAGGGCTGGGCCTGGACCCCTGGGTCTGAGGGAGGAGGGACTGGGCCTG GACCCCTGGCTCTGAGGGAGGAGGGGCTGGGGGAGCTCCTGGGTCTGAGG GAGGGAGGCCTGGGGCCTGGACCCCTGGGTCCGAGGTAGGAGGGATTGGG CCTGGACCCCTGGGTCTGAGGGAGGAGCGGCTCAGACTCGGACTCTTAGG TCTGAGGAGGAAGGGCTGGGCCTAGACC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp1 HG03195.hp1 others(1): Show HG02109.hp1 HG02922.hp1 HG03195.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 others(1): Show a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027	4	234	0.0171	-277	c.877 others(15): Show c.877+170_878-242del	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARMH3_chr10_101840599_102061173	101963638	TGCCCAGG others(270): Show TGCCCAGGGTGGAGTGCAACGGCACGATCTCGGCTCTCCGCGACCTCTGT CTCTTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGGGCCACTGCACTTGGCTGTCTCCTGGTAGTAGTTTTAAAA GGTCAACTTAAAATAAGGTGGTAGTAGGCTACTGACCTACTTATTTTATG CCATTTCCCTTTCGTTAAAGTAGGGGTTCTCTTTTTCTTTCTTTTTTTTT TTTTTTTGAGACGGAGTCTTGCTCTGTC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	262	0.0038	-277	c.149 others(19): Show c.1496-6183_1496-5907del	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	20/25			chr10	TogoVar
CDK12_chr17_39456486_39539544	39498930	TCTTTCTT others(270): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp2 NA18940.hp1 HG03834.hp1 HG03834.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0047 a0001c0001t0001 a0001c0001t0006 a0001c0001t0047	a0001c0001t0001g0136 a0001c0001t0006g0190 a0001c0001t0047g0165 a0001c0001t0001g0136 a0001c0001t0006g0190 a0001c0001t0047g0165	3	260	0.0115	-277	c.242 others(19): Show c.2420-2315_2420-2039del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CROCC2_chr2_240901336_240998311	240923577	TCCCCACA others(270): Show TCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCA GCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCC AGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACT AACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0003 a0005 a0003 a0005	a0003c0087 a0005c0005 a0003c0087 a0005c0005	a0003c0087t0002 a0005c0005t0002 a0003c0087t0002 a0005c0005t0002	a0003c0087t0002g0346 a0005c0005t0002g0345 a0003c0087t0002g0346 a0005c0005t0002g0345	2	350	0.0057	-277	c.488 others(16): Show c.488+937_488+1213del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGCR2_chr22_19031286_19127412	19118254	AAAGTTAC others(270): Show AAAGTTACTCTGGAGGCTGACACAGGAGAATTACTTGAACCCAGGAGGTG GAGGTTACAGTGAGCTGAGATCCCGCAACTGCACTCCAGCCTGGGTGACA GACAGAAACTCCATCGCAAACAAAAAAAAAAAAAAAAAAAAAAAACAACT CTGGACTCCAGAGCCAAGGTGCTGTGTTCACTTCTCAGCTCCCTGAGATG TGATCAGCTCAGCACAGCTGCCTACTGAAAGCAAAAGAGAAAGAACCCTG AGCTAGCAGCCAGCTCCACCTGGGTCTG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0010 a0003c0003t0008g0010	1	344	0.0029	-277	c.79+ others(15): Show c.79+3597_79+3873del	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	1/9			chr22	TogoVar
DLGAP2_chr8_732628_1713476	1399982	ACCTCCTT others(270): Show ACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTT GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCC TCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCA GAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTTGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCTCC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	-277	c.107 others(21): Show c.107-101382_107-101106del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241807568	TCCCTCCC others(270): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0162 a0002c0002t0002g0162	1	314	0.0032	-277	c.34 others(11): Show c.3403_*3679del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3282		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807783	CAGCCCAG others(270): Show CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACTCTCCCCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	314	0.0032	-277	c.36 others(11): Show c.3618_*3894del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3497		chr2	TogoVar
HS3ST2_chr16_22809162_22921338	22897650	CATCTTTG others(270): Show CATCTTTGCCTTGCCTAACTTTAATGAGACTCGTAGCCTGGAGTTTACGG GGACAGGTACTAGAGTCAAAACACTTGAATTTGTATCTTAGCTTCGCTAT TCAGTACCTTGGGTCTTTGGGCGGGTTACTTCTCTGCCTAATTCCCTCAA ATTATAATAAGGTTAAAATAAGGCTATAAAGTTAATAGTAATAGCTCCTT GATGATATTCTGTGGTATTTATATGAGATAATACATGTAAAAGCTCATAT AGCTATGCCTACCACAAGGCATGTAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(245): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0002c0009 a0003c0008 a0004c0007 a0006c0012 a0007c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0003t0003 a0001c0004t0002 a0001c0004t0014 a0001c0005t0002 a0001c0005t0006 a0001c0006t0006 a0001c0011t0011 a0002c0009t0001 a0003c0008t0002 a0004c0007t0001 a0006c0012t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0145 a0001c0001t0001g0146 others(245): Show a0001c0001t0001g0001 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0004g0152 a0001c0001t0004g0193 a0001c0001t0004g0200 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0340 a0001c0001t0007g0165 a0001c0001t0007g0208 a0001c0001t0009g0209 a0001c0001t0009g0239 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0003g0002 a0001c0002t0003g0039 a0001c0002t0004g0049 a0001c0002t0004g0059 a0001c0002t0004g0072 a0001c0002t0004g0088 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0137 a0001c0002t0004g0140 a0001c0002t0005g0123 a0001c0002t0005g0125 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0135 a0001c0002t0005g0141 a0001c0002t0007g0044 a0001c0002t0007g0047 a0001c0002t0007g0056 a0001c0002t0008g0133 a0001c0002t0008g0134 a0001c0002t0008g0136 a0001c0002t0008g0139 a0001c0002t0008g0143 a0001c0002t0010g0043 a0001c0002t0012g0080 a0001c0003t0003g0015 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0024 a0001c0003t0003g0027 a0001c0003t0003g0030 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0004t0002g0144 a0001c0004t0002g0149 a0001c0004t0002g0171 a0001c0004t0002g0179 a0001c0004t0002g0183 a0001c0004t0002g0184 a0001c0004t0002g0241 a0001c0004t0002g0261 a0001c0004t0002g0266 a0001c0004t0002g0267 a0001c0004t0002g0272 a0001c0004t0002g0291 a0001c0004t0002g0304 a0001c0004t0002g0307 a0001c0004t0002g0338 a0001c0004t0014g0242 a0001c0005t0002g0004 a0001c0005t0002g0005 a0001c0005t0002g0009 a0001c0005t0002g0012 a0001c0005t0002g0014 a0001c0005t0002g0060 a0001c0005t0002g0082 a0001c0005t0002g0090 a0001c0005t0002g0102 a0001c0005t0006g0038 a0001c0005t0006g0040 a0001c0006t0006g0016 a0001c0006t0006g0022 a0001c0006t0006g0023 a0001c0006t0006g0025 a0001c0006t0006g0026 a0001c0006t0006g0031 a0001c0011t0011g0003 a0002c0009t0001g0342 a0002c0009t0001g0344 a0003c0008t0002g0231 a0003c0008t0002g0232 a0004c0007t0001g0221 a0004c0007t0001g0222 a0006c0012t0001g0347 a0007c0010t0001g0042	248	350	0.7086	-277	c.486 others(19): Show c.486-17291_486-17015del	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRF4_chr6_386752_416443	396778	TCTCCTGC others(270): Show TCTCCTGCACTCCTTTAACCCCGTCTCGATGCCAGTGCTTCTTATCTCAG CCTCTCCTGCACTCCTTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTC AGCCTCTCCTGCACTCCTTTACCCCCGTCTCAATGCCAGTGCTTCCTATC TCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCGATGCCAGTGCTTCTTA TCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCGATGCCAGTGCTTCC TATCTCAGCCTCTCCTGCACTCCTTTAC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0184 a0001c0001t0057g0184	1	460	0.0022	-277	c.493 others(14): Show c.493-328_493-52del	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
NEU4_chr2_241804193_241822413	241807568	TCCCTCCC others(270): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0020 a0003c0007t0002g0020	1	319	0.0031	-277	c.-17 others(11): Show c.-1709_-1433del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1624		chr2	TogoVar
PPP2R5C_chr14_101756709_101932977	101782313	CTTCCCCT others(270): Show CTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCT TTCTCCCCTTCCCTCTCTCTCCCCTCTGGCTCTTTCTCCCCTTCCCTCTC TCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCC TCTCTCCCCCTTCCGCTCCCTCTCCCCCTTCCCCTCCCTCTCTTTCCTCT TTCTCTCTCCCCCTCCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCT TCCCTCTCTCTCCCCCCCTTTCTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0012 a0001c0001t0011g0012	1	138	0.0073	-277	c.94- others(15): Show c.94-3690_94-3414del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP6R2_chr22_50338327_50450090	50343870	CCCCCCAG others(270): Show CCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCC TCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCA GTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCA GTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGC CCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCC CCCAGTCAGTGCCCCCTCTAGTCAGTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp2 HG02109.hp1 others(5): Show HG00741.hp2 HG01496.hp2 HG02109.hp1 HG02486.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0019 a0001c0001t0031 a0005c0011t0008 a0001c0001t0019 a0001c0001t0031 a0005c0011t0008	a0001c0001t0019g0306 a0001c0001t0019g0307 a0001c0001t0019g0308 others(5): Show a0001c0001t0019g0306 a0001c0001t0019g0307 a0001c0001t0019g0308 a0001c0001t0031g0309 a0005c0011t0008g0310 a0005c0011t0008g0311 a0005c0011t0008g0312 a0005c0011t0008g0313	8	340	0.0235	-277	c.-14 others(17): Show c.-148+326_-148+602del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
SARDH_chr9_133658560_133743352	133668798	TCCCTCAC others(270): Show TCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTC TCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCC CTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCT CACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTT ACCCTCCCTCTCCCTCACCCTCCATCTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0022 a0002c0004t0002g0022	1	262	0.0038	-277	c.249 others(19): Show c.2495+1509_2495+1785del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SENP1_chr12_48037897_48111079	48056819	TAAATATA others(270): Show TAAATATATTTAACATATTACATATTACATATATATTATTTAATATATTA CATATTACATATATAATATATTATTTAATATATTACATATTACATATATA ATATATTATTTAATATATTACATATTACATATATAATATATTATTTAATA TATTACATATTACATATATAAATATATTATTTAATATATTACATATTACA TATATAAATATATTATTTAATATATTATATATTACATATATAAATATATT ATTTAATATATTATATATTACATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp1 others(128): Show HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19072.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0004 a0001c0001 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0010t0001 a0002c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(128): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0009g0304 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0010g0298 a0001c0001t0010g0299 a0001c0001t0012g0101 a0001c0001t0012g0102 a0001c0001t0013g0022 a0001c0001t0013g0024 a0001c0010t0001g0083 a0002c0004t0001g0369 a0002c0004t0001g0373	131	394	0.3325	-277	c.140 others(19): Show c.1407+6614_1407+6890del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
STK32B_chr4_5046480_5505989	5317209	TATAACAT others(270): Show TATAACATATATATATTATATATAACATATATATATTATATATAACATAT AACATATATATAATATATAACATATAACATATATATAATATATAATATAT AACATATGTATAATATATATTACATATATAATACATATATATAATATATA TAATGTATATGTATTATATATATTACATATATATAATATATATAATGTAT ATGTATTATATATAATACATATATATTACATATATACATAATATATATAA TATATATGTATAATATATATATTACATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG02622.hp1 others(4): Show HG01884.hp2 HG02615.hp1 HG02622.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0017 a0001c0009t0001	a0001c0001t0001g0030 a0001c0001t0001g0110 a0001c0001t0002g0002 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0110 a0001c0001t0002g0002 a0001c0001t0002g0152 a0001c0001t0006g0006 a0001c0001t0017g0029 a0001c0009t0001g0154	7	170	0.0412	-277	c.261 others(19): Show c.261-14010_261-13734del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11			chr4	TogoVar
TCF3_chr19_1604292_1657615	1627807	AGGGGGTG others(270): Show AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCAC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0098 a0001c0009t0098	a0001c0009t0098g0347 a0001c0009t0098g0347	1	352	0.0028	-277	c.299 others(15): Show c.299-658_299-382del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TDRP_chr8_484946_549834	528390	CAGCAATC others(270): Show CAGCAATCCCACTGCTAGATATATACCCAAAAGAAAGGAAATCAATATAT CAAAGAGATATCTGTGCTTCCAATATATATTGCAGCACTGTTCACAACAG CCAAGATTTGGAAGCAACCTAAGTATCCATCAACATCAACATACAAAAAT ATAGTTAGCATAAGATCTGGTACTTGACAGCACAACAGGATGACTACAGC CAATAATATTAAATAATTGTACTTTTAAAAAATAAGAGTATAATTGGATT GTTTGTAACACAAAGGATAAATGCATAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00621.hp2 others(51): Show HG00423.hp2 HG00438.hp1 HG00621.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01978.hp1 HG02071.hp1 HG02135.hp2 HG02293.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03098.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18995.hp2 NA18997.hp2 NA19002.hp1 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19068.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0061 a0001c0001t0064 a0001c0001t0081 a0002c0002t0003 a0002c0002t0054	a0001c0001t0001g0193 a0001c0001t0001g0238 a0001c0001t0002g0154 others(48): Show a0001c0001t0001g0193 a0001c0001t0001g0238 a0001c0001t0002g0154 a0001c0001t0002g0232 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0192 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0009g0189 a0001c0001t0009g0293 a0001c0001t0009g0294 a0001c0001t0010g0160 a0001c0001t0011g0233 a0001c0001t0061g0164 a0001c0001t0064g0246 a0001c0001t0081g0345 a0002c0002t0003g0059 a0002c0002t0054g0070	54	444	0.1216	-277	c.108 others(19): Show c.108+15983_108+16259del	TDRP	ENSG00000180190.13	transcript	ENST00000324079.11	protein_coding	1/2			chr8	TogoVar

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