JoGo: Joint Open Genome and Omics Platform

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
METAP1D_chr2_171994953_172087430	172042446	CATGCGTA others(169): Show CATGCGTACATATATACATATATACATATGTGTGTGTACATGTGTACATA TATACATATATACATATGTATGTGTACATGTGTACATATATACATATATG TGTGTATGTGTACATGTGCACATATATACATATATGTGTGTATGTGTACA TGTGCACATATATACATATATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	356	0.0028	-176	c.41- others(17): Show c.41-19048_41-18873del	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC5AC_chr11_1152953_1206138	1166870	TCCCCAAG others(169): Show TCCCCAAGATGAGACCCTGCACCCGACACACAGTCTCTGCACGATGAGAC CCTGCACCCAACACACAGTCTCCCCAAGATGAGACCCTGCACCCAACACA CAGTCTCCCCAAGATGAGACCCTGCACCCGACACACAGTCTCTGCACGAT GAGACCCTGCACCCAACACACAGTCTC	T T	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0165 a0012c0017t0001g0165	1	292	0.0034	-176	c.138 others(18): Show c.1387-1003_1387-828del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAPH2_chr22_50503224_50529780	50504098	CCCCCCCA others(169): Show CCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0190 a0001c0001t0002g0191	2	384	0.0052	-176	c.-42 others(11): Show c.-4239_-4064del	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4125		chr22	TogoVar
NDUFAF1_chr15_41382353_41407496	41382974	TGCCCGGC others(169): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCC GCCCAGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01256.hp2 others(5): Show HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG02145.hp1 HG02922.hp1 NA18906.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0018 a0005c0006t0001g0163 a0005c0006t0001g0164 others(4): Show a0001c0001t0001g0018 a0005c0006t0001g0163 a0005c0006t0001g0164 a0005c0006t0001g0165 a0005c0006t0001g0166 a0005c0006t0001g0167 a0005c0006t0001g0168	8	354	0.0226	-176	c.42 others(11): Show c.4294_*4469del	NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding		4378		chr15	TogoVar
NKAIN1_chr1_31174745_31244887	31176724	TGGGAGGG others(169): Show TGGGAGGGAGGTGGGGGGGTCAGCCCACCGCCCGGCCAGCCGCCCTGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGAGAGGTGGGGGTGTCAG CCCCCCGCCCGGCCAGCCACCCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18984.hp1 NA19010.hp1 NA18947.hp1 NA18984.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0073 a0001c0001t0002g0082 a0001c0001t0002g0083	3	338	0.0089	-176	c.48 others(11): Show c.4803_*4978del	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding		3020		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31176868	TGTCAGCC others(169): Show TGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAAGGAGGTGGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01358.hp2 HG01516.hp1 HG01261.hp1 HG01358.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0049 a0001c0001t0001g0253 a0001c0001t0001g0255	3	338	0.0089	-176	c.46 others(11): Show c.4659_*4834del	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding		2876		chr1	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(169): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18991.hp1 HG02723.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0090 a0002c0002t0001g0091	2	294	0.0068	-176	c.901 others(14): Show c.901+18_901+193del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148917	ACACCACA others(169): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCC	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	294	0.0034	-176	c.901 others(14): Show c.901+23_901+198del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148918	CACCACAC others(169): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03516.hp1 HG01081.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0035 a0001c0001 a0003c0035	a0001c0001t0001 a0003c0035t0001 a0001c0001t0001 a0003c0035t0001	a0001c0001t0001g0185 a0003c0035t0001g0047 a0001c0001t0001g0185 a0003c0035t0001g0047	2	294	0.0068	-176	c.901 others(15): Show c.901+106_901+281del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149397	GCTCACAC others(169): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	294	0.0034	-176	c.901 others(15): Show c.901+590_901+765del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149490	CACCACAC others(169): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	294	0.0034	-176	c.901 others(15): Show c.901+625_901+800del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149564	CGCCGCCT others(169): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01433.hp2 HG01123.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0151 a0001c0001t0001g0159	2	294	0.0068	-176	c.901 others(15): Show c.901+678_901+853del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150409	CACCACAC others(169): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0022 a0022	a0022c0017 a0022c0017	a0022c0017t0001 a0022c0017t0001	a0022c0017t0001g0197 a0022c0017t0001g0197	1	294	0.0034	-176	c.902 others(15): Show c.902-528_902-353del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150497	CACCACAC others(169): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01433.hp2 HG00738.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0153 a0001c0001t0001g0159	2	294	0.0068	-176	c.902 others(15): Show c.902-396_902-221del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTM_chr11_131365615_132341822	131789460	GAAGAAGA others(169): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	86	0.0116	-176	c.83- others(19): Show c.83-122072_83-121897del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUP62CL_chrX_107118427_107211433	107204693	TTTATTTA others(169): Show TTTATTTAAATAAATTTTAAATAAATTATTTATTTAAATAAATTTTAAAT AAATTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAA ATTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAAT TATTTATTTAAATAAATTTTAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	280	0.0036	-176	c.-92 others(17): Show c.-92+1404_-92+1579del	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUSAP1_chr15_41327881_41386046	41382974	TGCCCGGC others(169): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCC GCCCAGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01258.hp2 others(4): Show HG01109.hp1 HG01243.hp2 HG01258.hp2 HG02145.hp2 HG02922.hp2 NA18906.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0004 a0001c0001t0001 a0003c0004t0004	a0001c0001t0001g0029 a0003c0004t0004g0178 a0003c0004t0004g0179 others(4): Show a0001c0001t0001g0029 a0003c0004t0004g0178 a0003c0004t0004g0179 a0003c0004t0004g0180 a0003c0004t0004g0181 a0003c0004t0004g0182 a0003c0004t0004g0183	7	292	0.0240	-176	c.27 others(11): Show c.2789_*2964del	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding		1929		chr15	TogoVar
OTOGL_chr12_80094537_80385880	80220579	AAAATAGT others(169): Show AAAATAGTACTGAGACTTCTTCGAGGGCAAGGGCTTTTTTTTTTTTTTTT AAATCTTTTATCCACAGTGTCTAAGATAGGATTCTATGTCAATAATAATC AATAAATATTCATTTGTTTAATCGATGTTTACTGGCATCTAGATCCCAGG CTAGGCATTGGGGATGCAACGGTGAAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG01256.hp1 others(11): Show HG01070.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01952.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp1 HG06807.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0012	a0001c0001 a0002c0003 a0002c0018 others(3): Show a0001c0001 a0002c0003 a0002c0018 a0004c0004 a0010c0013 a0012c0014	a0001c0001t0001 a0002c0003t0002 a0002c0018t0001 others(3): Show a0001c0001t0001 a0002c0003t0002 a0002c0018t0001 a0004c0004t0003 a0010c0013t0004 a0012c0014t0003	a0001c0001t0001g0155 a0002c0003t0002g0013 a0002c0003t0002g0023 others(11): Show a0001c0001t0001g0155 a0002c0003t0002g0013 a0002c0003t0002g0023 a0002c0003t0002g0082 a0002c0003t0002g0083 a0002c0018t0001g0005 a0004c0004t0003g0050 a0004c0004t0003g0070 a0004c0004t0003g0093 a0004c0004t0003g0151 a0004c0004t0003g0152 a0010c0013t0004g0020 a0012c0014t0003g0010 a0012c0014t0003g0153	14	168	0.0833	-176	c.334 others(15): Show c.334+670_334+845del	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	6/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
PAK5_chr20_9532370_9844076	9617544	CAATCCTT others(169): Show CAATCCTTTTTTTTTTTTTTTTTTTTTTTTGAAATGGAGTCTCGCTCTGT CACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCAC CTCTTAGGTTCGCGCCATTCTTCCGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCACCACCACGGCCGGCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0071 a0002c0001t0001g0071	1	208	0.0048	-176	c.204 others(19): Show c.204+26405_204+26580del	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	3/9			chr20	TogoVar
PARD3B_chr2_204540475_205625162	204998328	ATATATAT others(169): Show ATATATATATATATATATATATATATATATATGTGTGTGTGTGTGTGTAT ATATGTGTGTGTATATATGTATATATGTGTATATATATGTATATATGTGT ATATATATGTGTGTGTATATATATGTGTATATTATATATGTATATATATG TGTATATAATATATGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0052 a0012c0023t0001g0052	1	54	0.0185	-176	c.394 others(19): Show c.394+33017_394+33192del	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCBP3_chr21_45638725_45947450	45898731	GCCCCTCT others(169): Show GCCCCTCTGCACGCCGTCCTCACGGCCTCCCTCTGCCTCCACGGGCCCCT CTGCATGCCGTCCTCACGGCCTCCCTCTCTCTCCACGGGCCCCTCTGCAC GCCGTCCTCACGGCCTCCCTCTCTCTCCACGGGCCCCTCTGCACGCCGTC CTCACAGCCTTCCTCTTTTTCCACAGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0090 a0001c0001t0003g0098 a0001c0001t0003g0044 a0001c0001t0003g0090 a0001c0001t0003g0098	3	292	0.0103	-176	c.166 others(15): Show c.166-834_166-659del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLEKHA7_chr11_16772297_17019414	16907388	TGGGGTCA others(169): Show TGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCTGGCCGCCCCTACTGGGAAGTAAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGCCCAGCC AGCCGCCCCGTCCGGGAGGGAGGCGGG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp1 HG02896.hp2 others(7): Show HG00733.hp1 HG01106.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0018 a0001c0026 a0007c0020	a0001c0001t0004 a0001c0001t0008 a0001c0002t0003 others(6): Show a0001c0001t0004 a0001c0001t0008 a0001c0002t0003 a0001c0003t0001 a0001c0005t0001 a0001c0009t0001 a0001c0018t0006 a0001c0026t0006 a0007c0020t0003	a0001c0001t0004g0111 a0001c0001t0008g0025 a0001c0002t0003g0083 others(7): Show a0001c0001t0004g0111 a0001c0001t0008g0025 a0001c0002t0003g0083 a0001c0003t0001g0170 a0001c0005t0001g0214 a0001c0009t0001g0100 a0001c0018t0006g0219 a0001c0026t0006g0159 a0007c0020t0003g0217 a0007c0020t0003g0221	10	244	0.0410	-176	c.222 others(19): Show c.222-36382_222-36207del	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHG4B_chr5_87168_194966	175732	CCCCCTCC others(169): Show CCCCCTCCAGGCAGACACGACCAGGGCTCCTGCACGGCTGCACCCCGCCT GAGCCCTGACCCCCTCCAGGCAGACACGACCAGGGCTCCTGCACGGCTGC ACCCCGCCTGAGCCCTGACCCCCTCCAGGCAGACACGACCAGGGCTCCTG CACGGCTGCACCCCGCCTGAGCCCTGA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02886.hp2 HG03139.hp2 others(2): Show HG01099.hp1 HG02886.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2	a0009 a0011 a0009 a0011	a0009c0012 a0009c0034 a0011c0078 a0009c0012 a0009c0034 a0011c0078	a0009c0012t0033 a0009c0012t0114 a0009c0012t0115 others(2): Show a0009c0012t0033 a0009c0012t0114 a0009c0012t0115 a0009c0034t0033 a0011c0078t0059	a0009c0012t0033g0161 a0009c0012t0114g0156 a0009c0012t0115g0157 others(2): Show a0009c0012t0033g0161 a0009c0012t0114g0156 a0009c0012t0115g0157 a0009c0034t0033g0162 a0011c0078t0059g0185	5	210	0.0238	-176	c.440 others(19): Show c.4402+1697_4402+1872del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POFUT2_chr21_45258935_45292895	45268849	CGGGAGGG others(169): Show CGGGAGGGAGGTGGGGGGGTCAGCACCCCGGGCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGCAAAGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	436	0.0023	-176	c.101 others(17): Show c.1012+814_1012+989del	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	7/8			chr21	TogoVar
POLG_chr15_89311320_89339824	89325123	TGAGTGAG others(169): Show TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTG AGAGAGAGAGAAAGAGAGAGAGAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03017.hp1 NA19006.hp1 HG00609.hp1 HG03017.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0215 a0001c0001t0002g0253 a0001c0001t0002g0255	3	398	0.0075	-176	c.194 others(17): Show c.1949+151_1949+326del	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPARD_chr6_35337558_35433178	35384058	AGGCCAGC others(169): Show AGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGCGTCAGCCTCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCACCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCGGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp1 others(36): Show HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG01243.hp1 HG01433.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02074.hp2 HG02129.hp1 HG02165.hp1 HG02523.hp2 HG02735.hp1 HG03017.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp2 NA18939.hp1 NA18952.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18984.hp2 NA19002.hp1 NA19009.hp2 NA19030.hp2 NA19070.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0002t0002 a0001c0002t0019 a0001c0004t0001	a0001c0001t0001g0025 a0001c0001t0001g0081 a0001c0001t0001g0082 others(36): Show a0001c0001t0001g0025 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0007g0083 a0001c0001t0016g0095 a0001c0001t0024g0113 a0001c0001t0025g0118 a0001c0001t0026g0096 a0001c0001t0028g0088 a0001c0002t0002g0104 a0001c0002t0019g0231 a0001c0004t0001g0108	39	238	0.1639	-176	c.-10 others(21): Show c.-101-26912_-101-26737del	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARD_chr6_35337558_35433178	35384374	TGCCCCTA others(169): Show TGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01192.hp1 others(18): Show HG00733.hp2 HG00741.hp1 HG01192.hp1 HG01884.hp2 HG02145.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03942.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0001t0021 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020	a0001c0001t0021g0046 a0001c0002t0002g0026 a0001c0002t0003g0032 others(18): Show a0001c0001t0021g0046 a0001c0002t0002g0026 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0045 a0001c0002t0004g0037 a0001c0002t0004g0044 a0001c0002t0006g0027 a0001c0002t0006g0028 a0001c0002t0006g0029 a0001c0002t0006g0030 a0001c0002t0006g0039 a0001c0002t0006g0040 a0001c0002t0017g0041 a0001c0002t0018g0034 a0001c0002t0020g0031	21	238	0.0882	-176	c.-10 others(21): Show c.-101-26580_-101-26405del	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARD_chr6_35337558_35433178	35384806	CGGCCAGC others(169): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03139.hp1 HG02630.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0223 a0001c0001t0001g0181 a0001c0001t0001g0223	2	238	0.0084	-176	c.-10 others(21): Show c.-101-26149_-101-25974del	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP6R2_chr22_50338327_50450090	50381230	GGCACCAC others(169): Show GGCACCACACGGGCCCCACCTCAGCATCACACGGGCCTCACCTCAGCACC ACACGGGCCCCACCTCAGCACCACACGGGCCCCACCTCAGCATCACACGG GCCTCACCTCAGCATCACACGGGCCCCACCTCAGCACCACACGGGCCCCA CCTCAGCATCACACGGGCCCCACCTCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 NA19074.hp1 HG02572.hp2 HG03041.hp2 NA19074.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0006 a0009c0016t0008 a0001c0001t0006 a0009c0016t0008	a0001c0001t0006g0063 a0009c0016t0008g0221 a0009c0016t0008g0222 a0001c0001t0006g0063 a0009c0016t0008g0221 a0009c0016t0008g0222	3	340	0.0088	-176	c.-17 others(17): Show c.-17+9117_-17+9292del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKD1_chr14_29571479_29932847	29826285	TATATATA others(169): Show TATATATACATATATATGATGGAATATATATATACATATATATGATGGAA TATATATATACATATATATGATGGAATATATATATACATATATATGATGG AATATATATATACATATATATGATGGAATATATATATACATATATGATGG AATATATATATACATATATATGATGGA	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0132 a0002c0004t0001g0132	1	156	0.0064	-176	c.265 others(21): Show c.265-100787_265-100612del	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKG1_chr10_51069487_52303350	52302260	ACACATAT others(169): Show ACACATATGTATACACATGTATATACACACATATGTATACACATGTATAT ACACACATATGTATACACATGTATATACACACATATGTATACACATGTAT ATACACACATATGTATACACATGTATATACACACATGTACACATGCACAT ATACACACATGTACACATGTGTATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0064 a0001c0001t0005g0064	1	64	0.0156	-176	c.83 others(11): Show c.8361_*8536del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding		3911		chr10	TogoVar
PRPF6_chr20_63976132_64038100	64017204	AAGTGCTG others(169): Show AAGTGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCTCCCAGAGTGC TGGGATCACAGGCGTGAGCCGCCATGCCTGGCCTCCCAAAGTGCTGGGAT CACAGGCGTGAGCCACCGCGCCCGGCCTCCCAGAGTGCTGGGATCACAGG CGTGAGCCACCGCGCCCGGCCTCCCAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02717.hp1 others(3): Show HG02451.hp2 HG02622.hp2 HG02717.hp1 HG03453.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 others(3): Show a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0008g0215	6	294	0.0204	-176	c.164 others(17): Show c.1647+385_1647+560del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF8_chr17_1645629_1689867	1689343	ACCTCCAT others(169): Show ACCTCCATCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCGCTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCCATCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGAGGGGCTGACCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0037 a0001c0009t0001g0037	1	291	0.0034	-176	c.-47 others(11): Show c.-4751_-4576del	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4477		chr17	TogoVar
PSEN1_chr14_73131507_73228691	73184286	TGGCCGGG others(169): Show TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCTCCGACGGGGCGGCTGGCCTGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGC	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	378	0.0027	-176	c.481 others(17): Show c.481-2558_481-2383del	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73184507	CGGGCGGG others(169): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCTCGGACAGGGCGGCTGGCC TGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGAGCGGCTGGCG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	378	0.0027	-176	c.481 others(17): Show c.481-2315_481-2140del	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PXMP4_chr20_33697758_33725310	33699685	TGGGGGGG others(169): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCTCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAATGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03471.hp2 HG03486.hp2 others(1): Show HG02622.hp2 HG03471.hp2 HG03486.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0043 a0002c0002t0015g0047 a0002c0002t0015g0043 a0002c0002t0015g0047	4	388	0.0103	-176	c.78 others(11): Show c.7845_*8020del	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		3072		chr20	TogoVar
PXMP4_chr20_33697758_33725310	33699804	CTACTGGG others(169): Show CTACTGGGAAATGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAG GGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCTCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp2 others(92): Show HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01106.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG03017.hp2 HG03471.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA20300.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0009 a0007c0011 a0001c0001 a0006c0009 a0007c0011	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(12): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0006c0009t0003 a0007c0011t0044	a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0010 others(40): Show a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0017 a0001c0001t0003g0052 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0201 a0001c0001t0005g0006 a0001c0001t0005g0036 a0001c0001t0005g0120 a0001c0001t0005g0148 a0001c0001t0016g0021 a0001c0001t0016g0107 a0001c0001t0022g0075 a0001c0001t0022g0119 a0001c0001t0022g0156 a0001c0001t0028g0054 a0001c0001t0028g0159 a0001c0001t0048g0188 a0001c0001t0050g0149 a0001c0001t0051g0110 a0001c0001t0052g0162 a0001c0001t0055g0111 a0001c0001t0056g0112 a0001c0001t0057g0150 a0001c0001t0058g0205 a0006c0009t0003g0113 a0007c0011t0044g0051	95	388	0.2449	-176	c.77 others(11): Show c.7726_*7901del	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		2953		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	7186219	TATATAAA others(169): Show TATATAAACATAAACATATTTATATAAACATAAACATATTTATATAAACA TAAACATAAACATATTTATATAAATATAAACATAAACATATTTATATAAA TATAAACATAAACATATTTATATAAATATAAACATAAACATATTTATATA AATATAAACATAAACATATTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03540.hp2 NA18994.hp1 HG02976.hp2 HG03540.hp2 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0040 a0002c0003t0034 a0001c0001t0001 a0001c0001t0040 a0002c0003t0034	a0001c0001t0001g0030 a0001c0001t0040g0064 a0002c0003t0034g0061 a0001c0001t0001g0030 a0001c0001t0040g0064 a0002c0003t0034g0061	3	68	0.0441	-176	c.27+ others(19): Show c.27+134149_27+134324del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM5_chr3_50083919_50124021	50084815	CCCCCCCA others(169): Show CCCCCCCACCTCCCTCCCGGAGGGAGCGGCTGGCCGGGCAGAGAGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCATCTGCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG01109.hp1 others(15): Show HG00323.hp2 HG01106.hp1 HG01109.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 NA18612.hp1 NA18945.hp2 NA18968.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0034 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0102 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234	18	284	0.0634	-176	c.-42 others(11): Show c.-4267_-4092del	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		4103		chr3	TogoVar
REEP6_chr19_1486181_1502927	1499247	CCCCCCCA others(169): Show CCCCCCCACCTCCCTCCCGGACGGGTCGACTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACG GGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0065 a0001c0003t0009g0065	1	318	0.0031	-176	c.20 others(11): Show c.2037_*2212del	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		1321		chr19	TogoVar
RELL1_chr4_37605634_37691376	37668958	GGTGAGGA others(169): Show GGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCAGGAGAGAGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03490.hp2 HG03688.hp1 others(2): Show HG01361.hp1 HG03490.hp2 HG03688.hp1 HG04228.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0110 a0001c0001t0004g0123 others(2): Show a0001c0001t0004g0053 a0001c0001t0004g0110 a0001c0001t0004g0123 a0001c0001t0004g0195 a0001c0001t0004g0245	5	324	0.0154	-176	c.88+ others(17): Show c.88+17066_88+17241del	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RFX7_chr15_56082280_56248879	56110025	CGGCCGCC others(169): Show CGGCCGCCCCTACTGGAAAATGAGGAGCCCCTCTGCCCAGCCAGCCGCCC CGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCA GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCAGGAGGTGAGGGGAGCCTCTGCCT	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0150 a0001c0001t0010g0150	1	360	0.0028	-176	c.402 others(17): Show c.402-6531_402-6356del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RNF115_chr1_145733868_145829095	145766533	GCCGGGCA others(169): Show GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGT	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18965.hp2 NA18747.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0142 a0001c0001t0002g0133 a0001c0001t0002g0142	2	272	0.0074	-176	c.428 others(17): Show c.428+5002_428+5177del	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
SCCPDH_chr1_246719409_246773137	246764855	GCAGAGAC others(169): Show GCAGAGACAGACAGGTCCACTTGTGAACTGTGGTATAATTACTGTCAGAG ACAGACAGGTCCACTTGTGAACTGTGGTATAATTACTGTCAGAGACAGAC AGGTCCACTTGTGAACTGTAGTATAATTACTGTCAGAGACAGACAGGTCC ACTTGTGAACTGTGGTATAATTACTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03130.hp1 HG01884.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	2	410	0.0049	-176	c.110 others(17): Show c.1102+617_1102+792del	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCCPDH_chr1_246719409_246773137	246764974	AGTATAAT others(169): Show AGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTGGTATA ATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTGGTATAATTACT GTCAGAGACAGACAGGTCCACTTGTGAACTGTGGTATAATTACTGTCAGA GACAGACAGGTCCACTTGTGAACTGTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG01891.hp2 others(4): Show HG00741.hp2 HG01243.hp1 HG01891.hp2 HG02258.hp1 HG02895.hp2 HG02965.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0007 a0001c0001t0001g0073 a0001c0001t0008g0269 a0001c0001t0001g0007 a0001c0001t0001g0073 a0001c0001t0008g0269	7	410	0.0171	-176	c.110 others(17): Show c.1102+705_1103-821del	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80534571	AGAGGAGC others(169): Show AGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGG AGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGCGGGGG GGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCTGGCCGCCCCTACTGGGACGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0016 a0002c0007t0016	a0002c0007t0016g0011 a0002c0007t0016g0011	1	322	0.0031	-176	c.-37 others(11): Show c.-3760_-3585del	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		3330		chr10	TogoVar
SHOX_chrX_625791_656584	636550	TATATAAA others(169): Show TATATAAACATATATACATATAAAGAAATATATATAAACATATATACATA TAAAATATACATATATAAACATATATATACATATAAAGAAATATATATAA ACATATATACATATAAAATATACATATATAAACATATATATACATAAAAT ATATATATAAACATATATATACATAAA	T T	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0186 a0002c0005t0186	a0002c0005t0186g0092 a0002c0005t0186g0092	1	220	0.0046	-176	c.486 others(17): Show c.486+1730_486+1905del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC9A3_chr5_465456_529449	497701	ATCTGCCC others(169): Show ATCTGCCCCTGTCCTGGGTGGGGTCGCCCGGCCGCATCCCCAGCCTCTGC CCCTGTCCCGGGTGGGGTCGCCCGGCCGCATCCCCAGCCTCTGCCCCTGT CCCGGGTGGGGTCGCCCGGCCGCATCCCCAGCCTCTGCCCCTGTCCCGGG TGGGGTCGCCCGGCCGCATCCCCAGCC	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0192 a0002c0002t0003g0192	1	218	0.0046	-176	c.212 others(17): Show c.212-5806_212-5631del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SNTG2_chr2_945849_1372613	1316699	CAGGCCAG others(169): Show CAGGCCAGCATTCGAGAAGGTTGGGATTCTGGAGCACTTAGCATCAGGGC AGCATTGGAGAAGGTTGGGATTCTGGAACATTTAGCATCAGGTCAGCATT GGAGAAGGTTGGGATTCTGGAGCATTTAGCATGAGGCCAGCATTGGAGAA GGCTGGGATTCTGGAGCGTTTAGCATG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02572.hp2 others(5): Show HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG03540.hp2 NA21309.hp2	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0007 a0009 a0015	a0001c0001 a0001c0002 a0003c0007 others(4): Show a0001c0001 a0001c0002 a0003c0007 a0006c0028 a0007c0016 a0009c0029 a0015c0036	a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 a0006c0028t0001 a0007c0016t0001 a0009c0029t0001 a0015c0036t0001	a0001c0001t0001g0102 a0001c0002t0001g0084 a0001c0002t0001g0109 others(5): Show a0001c0001t0001g0102 a0001c0002t0001g0084 a0001c0002t0001g0109 a0003c0007t0001g0108 a0006c0028t0001g0117 a0007c0016t0001g0135 a0009c0029t0001g0152 a0015c0036t0001g0070	8	190	0.0421	-176	c.148 others(17): Show c.1488+336_1488+511del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRGAP2B_chr1_144882288_145100328	144883802	CGAGGGGG others(169): Show CGAGGGGGGTCACAACAAAGCCGCGGCGGGCAAAAAGCCGAGGCGGGGTG GGGGGGGGGGAGGGGGGGAAGCCGCGGCGGCGGGGGGCGAAAAGCCACGG CGGCGGGGGGTAAAAAGCCGCGGCGGTCAAAAAGCCGAGGCGGGGTGGGG GGGGGGGAGGGGGGGAAGCCGCGGCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02257.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0008 a0001c0001t0017	a0001c0001t0008g0005 a0001c0001t0017g0043 a0001c0001t0008g0005 a0001c0001t0017g0043	2	56	0.0357	-176	c.81 others(11): Show c.8182_*8357del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3485		chr1	TogoVar

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