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
MVB12B_chr9_126321829_126512040	126484736	CCTTCCAC others(529): Show CCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCGTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACT TCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGT CAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00544.hp2 others(55): Show HG00099.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00733.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01192.hp2 HG01255.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp2 HG02273.hp2 HG02523.hp1 HG02559.hp2 HG02735.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp2 NA18983.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp2 NA19066.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 others(16): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0026 a0001c0002t0053 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0015 a0001c0003t0017 a0001c0003t0019 a0001c0003t0047 a0001c0003t0049 a0001c0003t0050	a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0115 others(54): Show a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0007g0114 a0001c0001t0015g0273 a0001c0001t0048g0109 a0001c0002t0001g0196 a0001c0002t0002g0089 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0118 a0001c0002t0002g0148 a0001c0002t0002g0153 a0001c0002t0004g0195 a0001c0002t0026g0194 a0001c0002t0053g0233 a0001c0003t0002g0116 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0146 a0001c0003t0002g0174 a0001c0003t0002g0176 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0203 a0001c0003t0002g0209 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0004g0198 a0001c0003t0006g0191 a0001c0003t0007g0002 a0001c0003t0007g0087 a0001c0003t0007g0165 a0001c0003t0007g0204 a0001c0003t0015g0091 a0001c0003t0015g0092 a0001c0003t0015g0094 a0001c0003t0017g0147 a0001c0003t0017g0229 a0001c0003t0017g0230 a0001c0003t0019g0237 a0001c0003t0019g0239 a0001c0003t0047g0175 a0001c0003t0049g0177 a0001c0003t0050g0173	58	318	0.1824	-536	c.873 others(16): Show c.873+735_873+1270del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTUD4_chr4_145128650_145185589	145132055	CGATTTTG others(529): Show CGATTTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCT GCCTCAGCCTCTCCTGCCTCAGCTGGGATTACAGGTGCGTGCCACCATGC CCGGCTAATTTTCGTATTTTTGGTAGAGACAGAGTTTCACCATGTTGGTT AGGCTGGTCTCGAGCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCGA AAGTGCTGGGATTACAGGTGTGAGCCACCACGCCTGGCCTACCATTAACA TCTTTAATCTTTGTAATGCTTTTTACTAAATGTGAAAAATAAAATATAAT TACAGGAATGTTATGTATTTTTAAAGGATTGCCTCTAAAGCCCCAGTTTC TCTAATGAATTCATTATAGAAAAACCAGTTTCAAAAACTGATGTTTATAC CTATGTCTGTCTGTAGCTTTTCTTAGAAAACCCTATTAAACTATTCTGAG GGGTCCACGTTTCATGAAGAACTCACAGATTAAGTTAGGGTGCAAAAGTT TATGAAGGGAAGCTGTGTTTAACTTCCTCTTTCATAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG06807.hp2 HG02818.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0102 a0001c0001t0052 a0001c0001t0102	a0001c0001t0052g0027 a0001c0001t0102g0082 a0001c0001t0052g0027 a0001c0001t0102g0082	2	346	0.0058	-536	c.48 others(11): Show c.4839_*5374del	OTUD4	ENSG00000164164.17	transcript	ENST00000447906.8	protein_coding		1594		chr4	TogoVar
P2RY8_chrX_1457581_1542185	1474460	TGGGTGAA others(529): Show TGGGTGAATGGATGTATGATGAATGGATGAGGATGGGTAGATGGATGGGT AGATGGATAGATGGGTGGCTGGATAGATGAATAGGTGTATGGGTGTGTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT AAGTGGGTGGGTGGATGGATGGATCAGTGTTTAGGTGGTTGGACGTGTGG GTGGATGGATGGGTGGACAGATGGATGAGTGGGAGGATGGGTGAATGGAT GTATGATGAATGGATGAGGATGGGTAGATGGATGGGTGAATGGATGTATG ATGAATGGATGAGGATGGGTAGATGGATGGGTGGATGGATAGATGGGTGG CTGGATAGATGAATAGGTGTATGGGTGTGTAGATGGGTGGCTGGATAGAT GAATAGGTGTATGGGTGTGTGGATGGATGGATGGATGGATGGATGGATAA GTGGGTGGGTGGATGGATGAATCAGTGTTTAGGTGGTTGGACGTGTGGGT GGATGGATGGGTGGACAGATGGATGAGTGGGAGGATG	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	114	0.0088	-536	c.-24 others(17): Show c.-24-8414_-24-7879del	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
RPH3AL_chr17_207389_357807	253726	TTTCCATC others(529): Show TTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACG TACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0078 a0001c0004t0001g0078	1	133	0.0075	-536	c.439 others(17): Show c.439-6977_439-6442del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	253944	GTGACTAC others(529): Show GTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCT TTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19005.hp1 HG02135.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0024 a0001c0004t0001 a0001c0001t0024 a0001c0004t0001	a0001c0001t0024g0083 a0001c0004t0001g0046 a0001c0001t0024g0083 a0001c0004t0001g0046	2	133	0.0150	-536	c.439 others(17): Show c.439-7195_439-6660del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254021	TACGTACT others(529): Show TACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCC TAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGT CTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGA GGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACC CTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCC CTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCG TCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATG AGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTAC CCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTC CCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGC GTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 NA18959.hp2 others(2): Show HG01361.hp1 HG01496.hp1 NA18959.hp2 NA19056.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 others(1): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 a0001c0002t0001	a0001c0001t0004g0021 a0001c0001t0012g0053 a0001c0001t0021g0077 others(2): Show a0001c0001t0004g0021 a0001c0001t0012g0053 a0001c0001t0021g0077 a0001c0002t0001g0001 a0001c0002t0001g0002	5	133	0.0376	-536	c.439 others(17): Show c.439-7272_439-6737del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255619	GTGACTAC others(529): Show GTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCT TTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC TGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TGTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATA	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	133	0.0075	-536	c.439 others(17): Show c.439-8870_439-8335del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257348	CATCCCTA others(529): Show CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTT CCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGC ACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTT CCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGT GACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTTT TCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCG CACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACGTACT TCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp2 HG00280.hp1 HG01515.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0008c0013t0003 a0001c0001t0001 a0008c0013t0003	a0001c0001t0001g0115 a0008c0013t0003g0037 a0001c0001t0001g0115 a0008c0013t0003g0037	2	133	0.0150	-536	c.439 others(19): Show c.439-10599_439-10064del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257360	CGTGACTA others(529): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGT CCTGTTCTGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02895.hp2 others(3): Show HG02559.hp2 HG02886.hp2 HG02895.hp2 NA18999.hp1 NA19056.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0017 a0001c0001t0019 a0001c0002t0003 others(2): Show a0001c0001t0017 a0001c0001t0019 a0001c0002t0003 a0001c0003t0001 a0001c0003t0030	a0001c0001t0017g0070 a0001c0001t0019g0011 a0001c0001t0019g0012 others(3): Show a0001c0001t0017g0070 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0002t0003g0090 a0001c0003t0001g0068 a0001c0003t0030g0122	6	133	0.0451	-536	c.439 others(19): Show c.439-10611_439-10076del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SREK1_chr5_66139300_66188615	66147832	AATTGTAT others(529): Show AATTGTATAGTGCTATCATTATGTAATATATGTAATATAGCGTAATCAAA GGAATCACACTGTTATTTTACTTTTTTCACTTTGTCATAAGCATTTTCCA TATTGCTGTCTTATTTATAGTAATATTTAGAGATTAGTAATTTCTGAGTG TATTGTGTGTTTTTGAAATTCTATTGTTGGATATTTTGATTGCTTTTTTT GGTATTACAAATTAGTGGATTTTAGCTAGAAATTGGGAGGTGTGTCTTTT TGATTGTCAACAATGATTAGAGGGCCTGTTGGCATTTAGTGGGTAAATGT TAGCAACTTATAAGTAGTCTTAAACAGGATGAATTGTGCTAATCCATAGG GCCACTGAAGCCCAGTGAAGAAACCCTGTTATAAATAATGCACCAACTAA TATTTTTGTACATGATACTGTATGCTTCGCTCATGTTTTGGCATATCTTT TTTGGTAGGTCCTCTGTCCTCTAAAGGATGTGTATTAATGTACTGATAAA ATACTGGACATATTATTACCTCATTGGTTTTAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0168 a0005c0006t0001g0168	1	386	0.0026	-536	c.161 others(17): Show c.161+3319_161+3854del	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZNF516_chr18_76352682_76500242	76393697	GGGGAAGG others(529): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0285 a0001c0001t0017g0285	1	346	0.0029	-536	c.181 others(21): Show c.1811-13930_1811-13395del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393771	AGGCAGGT others(529): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT AGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	346	0.0029	-536	c.181 others(21): Show c.1811-14004_1811-13469del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ARHGEF10_chr8_1818926_1963641	1889402	CTGTGAGG others(528): Show CTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGT GGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAG GAGACACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAGTAGGGTAAG GAGTCTGTGTGGAGACACTGAGTGGGGTGAGGGGTTTGTGAGGAGACACT GAGTGTGGGTGAGGGGTCTGTGAGGAGTCATGGAGTGTGGTGTGAGTTGT GAGAAAACTCGGAGTGGGGTGAGGGTCGTGAGGAAACAGTGGGGTGAAGG TTTGTGAGGAGACCCTGAGTGGAGTGAGGGTTGCGAGGAGACATTGAGTG GGATGAGGGTTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGCAGAC ACTTCATGGGAGGAGGGTTTGTGAGAAGACACTAGGTGGGGTGAGGTTTG TGAGGAGACACTGAGTGTGGTGAGGGTTTGTGAGGAGACACTGCATGGGG TGAACTTTGTTAGGAGGCAGTGAGTGGGGCGAGGGT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp2 HG02717.hp1 others(5): Show HG01934.hp1 HG02109.hp2 HG02717.hp1 HG02895.hp2 HG03098.hp2 HG03453.hp1 NA19030.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0005 a0001c0016 a0001c0047 others(1): Show a0001c0005 a0001c0016 a0001c0047 a0009c0029	a0001c0005t0003 a0001c0005t0016 a0001c0005t0018 others(4): Show a0001c0005t0003 a0001c0005t0016 a0001c0005t0018 a0001c0016t0014 a0001c0047t0009 a0009c0029t0007 a0009c0029t0041	a0001c0005t0003g0359 a0001c0005t0016g0101 a0001c0005t0018g0337 others(5): Show a0001c0005t0003g0359 a0001c0005t0016g0101 a0001c0005t0018g0337 a0001c0016t0014g0343 a0001c0047t0009g0331 a0001c0047t0009g0334 a0009c0029t0007g0202 a0009c0029t0041g0201	8	363	0.0220	-535	c.118 others(19): Show c.1182+3718_1183-3610del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
CAMSAP1_chr9_135803487_135912546	135838211	CGTTCTAC others(528): Show CGTTCTACAGACACACGTCATCACGCACTTTCCACCCATTCTACAGACAT GTCATCACGCACTTTCTACCCACTGTACAGACACACATCATCACGCACTT TCTACCCCTTCTACAGACACACGTCATCACGCACTTTCCACCCGTTCTAC AGACACATGTCATCACGCACTTTCCACCCGTTCTACAGACACACATCATC ACGCACTTTCCACCCGTTCTACAGACACACATCATCACGCACTTTCCACC TGTTCTACAGACACACATCATGCACTTTCTACCCCTTCTACAGACACACG TCATCACGCACTTTCCACCCATTCTACAGACACACATCATCATGCACTTT CCACCCCTTCTACAGACACACATCATCACGCACTTTCTACCCGTTCTACA GACACACATCATCACGCACTTTCCACCCGTTCTACAGACACACATCATCA CGCACTTTCCACCCGTTCTACAGACACACGTCATCACGCACTTTCCACCC GTTCTACAGACACACATCATCATGCACTTTCCACCT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0334 a0001c0001t0035g0334	1	340	0.0029	-535	c.104 others(21): Show c.1046-11162_1046-10628del	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
FOXQ1_chr6_1307098_1319758	1318794	GGGCGCGG others(528): Show GGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCG GGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAG AAACCCCGTCACTACTAAAAATAAAAAATTAGCCGGGCGCGGTGGCGCAC GCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGT TAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACT AAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACT AGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAG CCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGG CGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGG AGAAACCCCGTCACTACTAAAAATACAAAATTAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	406	0.0025	-535	c.48 others(11): Show c.4879_*5413del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4037		chr6	TogoVar
MAD1L1_chr7_1810795_2237945	1870293	TAACACCT others(528): Show TAACACCTGCCACGCTGAACCTAACATACGCCTGCCACGGTGAACCTACC GTAACACCTGCCATGCTGAACCCAACATACGCTTGCCATGCTGAACCCAC CATAACACCTGCCACGCTGAACCCAACATACTCCTGCCACGCTGAACCCA CCGTAACACCTGCCACGCTGAACCCAACATATGCCTGCCACGCTGAACCC AACATACACCTGCCACACTGAACCCAACATAAGCCTGCCACGCTGAACCG ACCATAACACCTGCCACGCTGAACCCAACATACGCCTGCCACGCTGAACC CACCGTAACACCTGCCACGCTGAACCCAACATATGCCTGCCACGCTGAAC CCAACATATGCCTGCCACGCTGAACCCACCGTAACACCTGCCACACTGAA CCCAACATACACCTGCCACACTGAACCCACCGTAACACCTGCCACGCTGA ACCCAACATATGCCTGCCACGCTGAACCGACCATAACACCTGCCACGCTG AACCCAACATATGCCTGCCACGCTGAACCGACCATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp2 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0262 a0001c0001t0006g0263	2	264	0.0076	-535	c.199 others(21): Show c.1998+27372_1998+27906del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
NKX1-2_chr10_124440243_124455035	124440783	TCCCAAGG others(528): Show TCCCAAGGTGCTGGGATTACAGGCGTGAGCCACCAAGCCCGGCCTAGATA TTTTACCAAAGGTTTATTTACTAAAAGACATGCTCAAGAATGTTTAGTCA TAGTAGCCCCAAAATGGAAAGAACTCAGTTACCTATCAAAAGACAAACAA GTTGTGGCATTCATAGTACCGTAAAATACCAACAGTAATAGGAATGAAAA ATCTACAACTATGCAAAACAATATGGATGAAACTCATAGTGTTGAGCAAA ATAATCCAGACACGAGAGATCACACCATATGATTCTGTTTTTATAATTAC AGGAAAAAAGGAGACACAACTTCTCTCAGCTGTTTGAAGTCAGAGTCATG GTTGCTCCTGGGGAGGGTAATTATCAGAAGGGACACCGGGGTGCTGGCCA AGTTCTGTTTCTTGTTTTTCGTTTTTGTTTTTGAGACAGGGTCTCCCTCT GTTGCCCAGGCTATAGTGCAGTGGTAGGATCATGGCTCCCTACAGCCTGG ACCTCCTGGGCTCAAGCAATCCTCCTACCTCAGCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	-535	c.61 others(11): Show c.6111_*6645del	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding		4459		chr10	TogoVar
NOS1AP_chr1_162064691_162375475	162260958	CCTCAAAG others(528): Show CCTCAAAGTTTCAAGCAATAATTATTTCATTAGAATTTGTTATATTCCCA AGGTGACTAATATAACAAATTAGAATTTGTTATATTCCCAAGATGACTAA TATAACAAATTAGAATTTGTTATACTCCCAAAGTGCCTTGAAAGTTAATA TTTATTTGGAGATATATATGTTCAGGTATACTTGGCAGAAACAACCAGTA AATCTCATTGGTCTGGCATCAGAGAATGAGGTTCTCCATATAAGTAAAAT TTCCAGGGAACTCAAGCTTTCCCCTCTAAGCATCAGTCCTATCTTTCAAA ATCAATAACATTTAATTACAATATTTTATAACCTTTCATGTCCCCTTGTT CTTAAACAATATCCTGATGTTACCTTCTATGGCAGCAGGGAGTTTGCAGA TTCTTAATGTGCAAACTTTTAAGAATCTTGAGATGGGAGATTACCCTGCA TTATCCAGGTGGGCTCAATCTAATCACAAGAGTCCTTATAGAAGAGAGGC AGCGGGGAGTCAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02572.hp1 others(1): Show HG01243.hp1 HG02258.hp1 HG02572.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0011 a0001c0003t0007 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0003t0007 a0001c0005t0007	a0001c0001t0002g0146 a0001c0001t0011g0005 a0001c0003t0007g0073 others(1): Show a0001c0001t0002g0146 a0001c0001t0011g0005 a0001c0003t0007g0073 a0001c0005t0007g0010	4	182	0.0220	-535	c.178 others(19): Show c.178-26385_178-25851del	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
PARVB_chr22_44019302_44177939	44113647	AAGGCCCT others(528): Show AAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCACC AACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAAATACGT TCTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAA GGCCCTGTACCAACACAGATACGTTGTTACTAAGTAAGGCCCTGCACCAA CACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTAC TAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCT GCACCAGCACAGATATATTGTTACTAAGGCCCTGCACCAACACAGATACA TTGTTACTAACTAAGGCCCTGCACCAACACAGATATGTTGTTACTAAGGC CCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCACCAACAC AGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGATACGTTGTTA CTAAGTATGGCCCTGCACCAACACAGATACATTGTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0089 a0001c0002t0039g0089	1	332	0.0030	-535	c.274 others(17): Show c.274-5389_274-4855del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEC61A2_chr10_12124677_12170407	12150966	GGGGTTTC others(528): Show GGGGTTTCACCATGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCGTGAT TCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTG CGCCCGGCCCTAAGTATCTTAAAATATGTTAAGTTTGGAAGCTATTTCTC TATTGTACAATCCTTAAAAACCATTTAGATAAATTACCCAAGAACAGATC ATACTTAAGTTATCTTTCTTGTGTTTTGAAAAGAAGTTTGCTGAAGTTAA TAAACAATGGGTATCTGGAGTCCTGATTTTCTTGGAAATGCCTCTTCTTC TTCACTTTATGAAATTGGGATTAGTTTAGGAAATTTTTTCTTTTTCTTTT CTTTTTTTTTTTTTTGAGACACAGTCTTGCTGTGTCGCCAGGCTGAAGTG CAGTGGCACGATCTCGGCTCACTGCAACCTCCCCTTCCTGGTTTCAAGCG ATTTTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGCGCGCGCCAC CATGCCTACCTAATTTTTGTATTTTTAGTAGAGACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02723.hp1 others(6): Show HG01891.hp2 HG02559.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG03041.hp1 HG03209.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0243 others(4): Show a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0250 a0001c0002t0001g0255	9	360	0.0250	-535	c.462 others(17): Show c.462+1028_462+1562del	SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC66A2_chr18_79897420_79956653	79920657	AGGAACCG others(528): Show AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGG AGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGT CAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAG GGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGG AGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAA CCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGG TCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTG GGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGA ACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	352	0.0028	-535	c.392 others(17): Show c.392-1792_392-1258del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921029	TGAGGAGA others(528): Show TGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAG AGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCA GAGGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGA CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGG GAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGG TCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCG AGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCA GGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAG GAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	352	0.0028	-535	c.392 others(17): Show c.392-2164_392-1630del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
TRAPPC9_chr8_139722725_140462744	139747940	TCCCGGGG others(528): Show TCCCGGGGTCAGAGCAGGTGGGAGGTGTGCAGGGATCAGAGAAGATGCAG GGGGTATACACAGCAAGTGTCACAGCAGGTTGGGGGGGCGTACAGGGGTC AGAGTGGGTGTGGGGGTGTCCCGGGGTCAGAGCAGGTGGGGAGGTGTGCA GGGATCAGAGAAGATGCAGGGGGTATACACAGCAGGTGTCACAGCAGGTT GGGGGGGCGTACAGGGGTCAGAGTGGGTGTGGGGGTGTCCCGGGGTCAGA GCAGGTGGGAGGTGTACAGGGATCAGAGAAGATGCAGGGGGTATACACAG CAGGTGTCAGAGCAGGTAGGGGGGGCATACAGGGGTCAGAGTGGGTGTGA GGGTGTCCTGGGGTCAGAGCAGGTGGGAGGTGTGCAGGGATCAGAGAAGA TGCAGGGGGTACACACAGCAGGAGTCAGAGCAGGTAGGGGGGCGTACAGG GGTCAGAGCAGGTGTGGGGGCTGTGCAGGGGTCAGAGCAGGTGGGGAGGT GTGCAGGGATCAGAGAAGATGCAGGGGGTACACACA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03041.hp2 HG03209.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0007 a0001c0004 a0001c0005 a0001c0007	a0001c0004t0028 a0001c0005t0027 a0001c0007t0015 a0001c0004t0028 a0001c0005t0027 a0001c0007t0015	a0001c0004t0028g0098 a0001c0005t0027g0080 a0001c0007t0015g0018 a0001c0004t0028g0098 a0001c0005t0027g0080 a0001c0007t0015g0018	3	98	0.0306	-535	c.305 others(21): Show c.3056-16273_3056-15739del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
VAV2_chr9_133756894_133997324	133827626	CCACTGAG others(528): Show CCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAG TGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTG GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCAC CACCTACCGCTGCGCCCACTGAGGCTGACCACTGAG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp1 HG02630.hp1 others(1): Show HG02015.hp1 HG02080.hp1 HG02630.hp1 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0017 a0002c0001 a0001c0004 a0001c0017 a0002c0001	a0001c0004t0002 a0001c0017t0028 a0002c0001t0001 a0001c0004t0002 a0001c0017t0028 a0002c0001t0001	a0001c0004t0002g0061 a0001c0004t0002g0190 a0001c0017t0028g0112 others(1): Show a0001c0004t0002g0061 a0001c0004t0002g0190 a0001c0017t0028g0112 a0002c0001t0001g0111	4	200	0.0200	-535	c.449 others(17): Show c.449+6111_449+6645del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
ACACB_chr12_109111587_109273226	109209871	ACACACAC others(527): Show ACACACACGTGTGTATATATGTATATACACACATACACACACGTGTGTAT ATATGTGTATACACACATACACACACGTGTGTGTATATATGTGTATACAC ACATACACACACGTGTGTGTATATATGTGTATATGTGTATATATACACAC GTGTGTATATATGTGTATATGTGTATATATACACACACGTGTGTATATAT GTGTATATATGTATATATACACACATGTGTGTGTATATGTATATATACAC GTACATGTATGTGTGTATATATGTATATATACACACGTGTGTATATGTAT ATATGTATATATACACACGTGTGTATATGTATATATGTATATATACACAC ATGTGTGTATATGTATATATGTATATATACACACATGTGTGTATATGTAC ATATACACACACATATCTGTGTGTATATGTATATATACACACACATATCT GTGTATATATGTATATACACGCACACACATATCTGTGTATATATGTATAT ACACGCACACACATGTGTATATATGTATATACACG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19009.hp1 NA19057.hp2 NA18612.hp1 NA19009.hp1 NA19057.hp2	a0002 a0002	a0002c0021 a0002c0024 a0002c0021 a0002c0024	a0002c0021t0003 a0002c0024t0003 a0002c0021t0003 a0002c0024t0003	a0002c0021t0003g0253 a0002c0024t0003g0034 a0002c0024t0003g0036 a0002c0021t0003g0253 a0002c0024t0003g0034 a0002c0024t0003g0036	3	308	0.0097	-534	c.324 others(18): Show c.3249+526_3249+1059del	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
DPH7_chr9_137549444_137583925	137566185	GTGACTCT others(527): Show GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAA GCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCT GTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGA GGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT CTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCC CGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGA GGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	340	0.0029	-534	c.641 others(17): Show c.641-1565_641-1032del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1121841	ATCTCTAT others(527): Show ATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT ATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTAT CTCTATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTAT CTCTATCTATCTATCTCTATCTCTATCTCTATATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTAT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTAT CTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCT GTGTCTCTATCTCTATCTCTATCTCTATCTGTGTC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0072 a0002c0002t0065g0072	1	162	0.0062	-534	c.156 others(19): Show c.1569+5812_1569+6345del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
GRTP1_chr13_113319163_113369130	113346616	GGACCCGG others(527): Show GGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGT GGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGG ACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGG ACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGG ACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGG ACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGG ACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCA GAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGAC CTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCT GGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGA GAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20300.hp1 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0173 a0001c0001t0003g0163 a0001c0001t0003g0173	2	288	0.0069	-534	c.466 others(17): Show c.466-2191_466-1658del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347245	TGGGAGGA others(527): Show TGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCG GGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAG AGCAGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTC TGTGGCCGAGAGCGGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGG AGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAA CAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCTGAGCAGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAG GACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACA GATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	288	0.0035	-534	c.466 others(17): Show c.466-2820_466-2287del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347411	TGACAGTG others(527): Show TGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGA TCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGTGGCCGAGAGCGGA CCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTCTGTGGCAG AGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGATCTG GGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTC TGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGG AGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAA CAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTG TGGCCAAGAACGGACCTGGGAGGACCTCTGAGGCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	288	0.0035	-534	c.465 others(17): Show c.465+2904_466-2453del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
NPAS3_chr14_32933879_33809173	33472536	TGAGAATA others(527): Show TGAGAATAGGCTGGAAGTTGGAAGACTAGGAAGGTATTACAATCTTCTAG GCTAGAGACAGTAGTTACTTGAATCAGCTGATAGCAGTGGAGGTTAGTGA GAAATGATCACATTCTGTATAAATGAATGTCAAGCCCATAGGACTGGCAA GGATGACTCCAGTGTTTTTGTCCTCAGTGGCTGGATGAAGTTGCCTTTTA TTCAGAGAAACCTGTGTGAAAGCAGGTTTTGCTATGCGTGTATATGGGGT GGGGTGGAGGGTGGATTAGAAGTCAAAAAATGTGTGCAAAGCAGAAAAAA AAAGACATTTATTATTGATATGATTATATTATTTTACTTTCCAAAAGGAT TTGAAAAGGCTTATAAGAAAACCTAGAGATAGAATGCGGATGGAAACCAT TTAAAAAGCAAAAACAGCCGAAACCCAATCAAACAGTAGTGGATCTAAAC GGAAATTTCCTGCGGGGGGAACTGTAAGCATGTTTGCTTGAGCTTTGCAG AGTGTTTGTGGTCAAGAATAAAAATATGAGGGTAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02717.hp1 others(7): Show HG01496.hp1 HG01884.hp1 HG02717.hp1 HG02818.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp1 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0004 others(1): Show a0001c0001 a0001c0008 a0002c0004 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0054 a0001c0008t0012 a0002c0004t0008 a0002c0006t0017	a0001c0001t0002g0011 a0001c0001t0002g0040 a0001c0001t0003g0002 others(7): Show a0001c0001t0002g0011 a0001c0001t0002g0040 a0001c0001t0003g0002 a0001c0001t0003g0058 a0001c0001t0004g0012 a0001c0001t0022g0015 a0001c0001t0054g0043 a0001c0008t0012g0025 a0002c0004t0008g0063 a0002c0006t0017g0024	10	92	0.1087	-534	c.469 others(19): Show c.469-87582_469-87049del	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNT_chr21_46319156_46450769	46359199	CGCCTTGG others(527): Show CGCCTTGGCCTCCCAAAGTGTTGGGACTACAGGCGTGAGCCACCGAACCT GGCTCCAGGTGACTTTTTGATGCTCATGTCTTTATGCTTTTCACAGGCCA CCATTTTACCTCCTTATATCAATTATGGGGAGAGGACTGTGGATTTCTCT CTTGTTAATTTTAATTCTTGTTTTGAGTATGTGGAAGCTCTGTTGTTACA CGTGTACACATTTGTGATTGTAATGTCTTCCTAAAAATTCACCCTTTTCT GTCTTGTAGTATTCTGTCCAAAAATACACCTGTTTTTTTTTTGTTTTTTT TTTTTTTTTGAGACAGTGTCTCACTCTATCGCCAGGGTGGAGTGTAGAGG CGTGATCTTGGCTCACTGTACCCTCCGCCTCCTGGTTTCAAGCGATTCTG CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACCACACC CGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCATTATGTTGGCCG GGCTGGTCTCGAACTCCTGACCTCATGATCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00597.hp1 others(32): Show HG00099.hp1 HG00140.hp1 HG00597.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp2 HG01243.hp2 HG01361.hp1 HG01981.hp2 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG04184.hp1 NA18522.hp2 NA18949.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0006 a0007 a0008 others(5): Show a0006 a0007 a0008 a0019 a0028 a0029 a0049 a0059	a0006c0006 a0006c0017 a0006c0027 others(7): Show a0006c0006 a0006c0017 a0006c0027 a0007c0005 a0008c0007 a0019c0028 a0028c0040 a0029c0039 a0049c0046 a0059c0052	a0006c0006t0001 a0006c0017t0001 a0006c0027t0001 others(7): Show a0006c0006t0001 a0006c0017t0001 a0006c0027t0001 a0007c0005t0001 a0008c0007t0001 a0019c0028t0001 a0028c0040t0001 a0029c0039t0001 a0049c0046t0001 a0059c0052t0001	a0006c0006t0001g0013 a0006c0006t0001g0015 a0006c0006t0001g0016 others(32): Show a0006c0006t0001g0013 a0006c0006t0001g0015 a0006c0006t0001g0016 a0006c0006t0001g0019 a0006c0006t0001g0021 a0006c0006t0001g0023 a0006c0006t0001g0081 a0006c0017t0001g0014 a0006c0017t0001g0020 a0006c0017t0001g0022 a0006c0027t0001g0017 a0006c0027t0001g0018 a0007c0005t0001g0024 a0007c0005t0001g0025 a0007c0005t0001g0026 a0007c0005t0001g0027 a0007c0005t0001g0028 a0007c0005t0001g0029 a0007c0005t0001g0030 a0007c0005t0001g0031 a0007c0005t0001g0032 a0007c0005t0001g0033 a0008c0007t0001g0003 a0008c0007t0001g0004 a0008c0007t0001g0005 a0008c0007t0001g0007 a0008c0007t0001g0008 a0008c0007t0001g0009 a0008c0007t0001g0010 a0019c0028t0001g0327 a0019c0028t0001g0328 a0028c0040t0001g0012 a0029c0039t0001g0011 a0049c0046t0001g0006 a0059c0052t0001g0034	35	332	0.1054	-534	c.215 others(19): Show c.2154+2013_2154+2546del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	13/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLD5_chr1_242077986_242529697	242393760	GTATATAA others(527): Show GTATATAAGTATTTTTAGGCAGGGCCGCAGTGGCTCACGCCTGTATTCTC AGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAAGTCAGGAGTTCGA GACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAA ATTAGCTGGGTGTGGGGGTGCGTGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATCACTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCTG AGATCACGCCACTGAACTCCAGCCTGGATAAGACGACGACTCCATCTCAA AAAAAAACATATATATATATGAGTATATATATGTATATATGTGTATATAT ATGAGTATATATATGTGTATATATATGAGTATATATATGTGTATATATAT GAGTATATATATGTGTATATATGAGTATATATGAGTATATATATGTGTAT ATGAGTATATATATGTGTATATATATGAGTATATATATGTGTATATATAT GAGTATGAGTATATATATGTGTATATATATGAGTA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	188	0.0053	-534	c.190 others(19): Show c.190-46052_190-45519del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PRKCA_chr17_66297613_66815743	66799052	ATGGTGGT others(527): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGACGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0126 a0001c0002t0026g0126	1	178	0.0056	-534	c.185 others(19): Show c.1855-4809_1855-4276del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMF1_chr20_1113602_1177246	1114649	CCAGTGTT others(527): Show CCAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAAGA TGCCAGCTACAACCAACTGTATGCAAACCAGTGTCAAGGGGTGGGGGTGA CGGACCTGTCTGCCCTGTAAGATGCCAGCTACAACCAACTGTATGCAAAG CAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAAGAT GCCAGCTACAACCAACTGTATGCAAACCAGTGTTGAACCAAGGGGTGGGG GTGACGGAGCTGTCTGCCCTGTAAGATGCCAGCTACAACCAACTGTATGC AAACCAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTA AGATGCCAGCTACAACCAACTGTATGCAAACCAGTGTTGAACCAAGGGGT GGGGGTGATGGAGCTGTCTGCCCTGTAAGATGCCAGCTACAACCAACTGT ATGCAAACCAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCC TGTAAGATGCCAGCTACAACCAACTGTATGCAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	326	0.0031	-534	c.-41 others(11): Show c.-4124_-3591del	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding		3952		chr20	TogoVar
RBM5_chr3_50083919_50124021	50084371	CTTCCCGG others(527): Show CTTCCCGGAAGGGGCGGCTGGCCAGGCGGGGGGCTGACTCCCCCACCTCC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACC TCCCTCCCGGACAGGGGCGGCTGGCCGGGCAGAGGAGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGAGGGAGCGGCTGGCCGGGCAGAGAGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02723.hp2 HG02257.hp1 HG02451.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037	3	284	0.0106	-534	c.-47 others(11): Show c.-4711_-4178del	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		4547		chr3	TogoVar
SLC66A2_chr18_79897420_79956653	79920685	GAGGAGAG others(527): Show GAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGA CGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCA AGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAG GAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0163 a0001c0001t0010g0163	1	352	0.0028	-534	c.392 others(17): Show c.392-1819_392-1286del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921183	AGGAGAGA others(527): Show AGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGA GGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAG AGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGT CAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCG AGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGG AGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	352	0.0028	-534	c.392 others(17): Show c.392-2317_392-1784del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SPRY3_chrX_155607586_155787459	155688799	TCTTTTCC others(527): Show TCTTTTCCCTAATGCTCTCCCCACCACTGCCCTCCTCCGACAGGCCCCAG TGTGTGTTGTTTCCTTCTCTGTGTCCATGTGTTCTCGTTGTTCAGCTACC ACTTATAAGTGAGAACATGCAGTGTCTGTTCATATCCTTTGCCCACTTTT TAATAGAGTTGCTCAGCTTTTTCTTGTAAATTTGTTTAAGTTTCTTATAG ATGCTGGATATTAAACCTTTGTCAGATGCATAATTTGCATAAATTTTCTC CCATTTTGTAGGTTGTCTGTTTGTTGATAGTTTCTTTTGCTGTGCAGAAG CTCTTTAGAATAATTAGATCCCGTATGACAATTTTTGCTTTTGTTGCATT TGCTTTTGGTGTTTTCATCATGAAATCTTTGCCCATGCCTATGTTCTGAA TGGTACTGCCTAGGTTTTCTTCCAGGGTTTTCATAGTTTGGGATTTTACA TTTAAGTATTTAATCCATCCTGAGTTAATTTTTGTATATGGTGTAAGGAA GGGGTCCAGTTTCGATCTTCTGCATATAGCTAGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00544.hp2 others(91): Show HG00140.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18988.hp1 NA18990.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(67): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0038 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0104 a0001c0001t0106 a0001c0001t0108 a0001c0001t0111 a0001c0001t0113 a0001c0001t0115 a0001c0001t0117 a0001c0001t0123 a0001c0001t0135 a0001c0001t0137 a0001c0002t0028 a0001c0002t0029 a0001c0002t0045 a0001c0002t0074 a0001c0002t0084 a0001c0002t0094 a0001c0002t0100 a0001c0002t0101 a0001c0002t0121 a0001c0002t0126 a0001c0002t0131 a0001c0002t0138	a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 others(91): Show a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0003g0015 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0001t0004g0061 a0001c0001t0005g0065 a0001c0001t0005g0092 a0001c0001t0006g0011 a0001c0001t0006g0021 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0048 a0001c0001t0007g0084 a0001c0001t0007g0086 a0001c0001t0008g0003 a0001c0001t0008g0005 a0001c0001t0010g0001 a0001c0001t0010g0083 a0001c0001t0012g0002 a0001c0001t0012g0085 a0001c0001t0013g0022 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0015g0075 a0001c0001t0018g0033 a0001c0001t0018g0034 a0001c0001t0019g0068 a0001c0001t0021g0059 a0001c0001t0021g0060 a0001c0001t0023g0046 a0001c0001t0023g0080 a0001c0001t0024g0091 a0001c0001t0027g0026 a0001c0001t0030g0006 a0001c0001t0030g0027 a0001c0001t0031g0031 a0001c0001t0031g0037 a0001c0001t0038g0047 a0001c0001t0042g0070 a0001c0001t0044g0074 a0001c0001t0047g0040 a0001c0001t0049g0081 a0001c0001t0051g0079 a0001c0001t0053g0053 a0001c0001t0055g0023 a0001c0001t0059g0119 a0001c0001t0063g0057 a0001c0001t0064g0066 a0001c0001t0065g0056 a0001c0001t0067g0094 a0001c0001t0070g0038 a0001c0001t0071g0088 a0001c0001t0072g0028 a0001c0001t0073g0014 a0001c0001t0077g0078 a0001c0001t0078g0087 a0001c0001t0079g0025 a0001c0001t0085g0043 a0001c0001t0086g0090 a0001c0001t0089g0072 a0001c0001t0091g0016 a0001c0001t0092g0076 a0001c0001t0095g0035 a0001c0001t0096g0055 a0001c0001t0097g0058 a0001c0001t0104g0049 a0001c0001t0106g0018 a0001c0001t0108g0064 a0001c0001t0111g0050 a0001c0001t0113g0019 a0001c0001t0115g0100 a0001c0001t0117g0063 a0001c0001t0123g0009 a0001c0001t0135g0089 a0001c0001t0137g0062 a0001c0002t0028g0067 a0001c0002t0028g0069 a0001c0002t0029g0052 a0001c0002t0045g0054 a0001c0002t0074g0008 a0001c0002t0084g0020 a0001c0002t0094g0051 a0001c0002t0100g0032 a0001c0002t0101g0024 a0001c0002t0121g0010 a0001c0002t0126g0036 a0001c0002t0131g0012 a0001c0002t0138g0017	94	231	0.4069	-534	c.-28 others(21): Show c.-282+76153_-282+76686del	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
TNK2_chr3_195858364_195913551	195874928	AGAAGCTC others(527): Show AGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGC TCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCC TCGGGATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCCCCCTCGGG ATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCG CCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACG CACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGC TCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAG GCACACGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAA GAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAAC TCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAGCTCCCC CTCGGGATGGCGCCCACGCACGCTCGGAGGCACAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	372	0.0027	-534	c.125 others(19): Show c.1256+2791_1257-2459del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1289458	TCTCTGCC others(526): Show TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02280.hp1 HG01106.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0204 a0001c0001t0005g0210 a0001c0001t0001g0204 a0001c0001t0005g0210	2	295	0.0068	-533	c.35 others(11): Show c.3573_*4105del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2932		chr1	TogoVar
DHRSX_chrX_2214506_2505976	2281763	AAGAGAGA others(526): Show AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAG GGAGAGAGAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGG AAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAG AGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAA AGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	50	0.0200	-533	c.388 others(17): Show c.388+9206_388+9738del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241806992	TCCCCCCT others(526): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCC AGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0232 a0003c0003t0001g0232	1	314	0.0032	-533	c.28 others(11): Show c.2827_*3359del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2706		chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346345	AGCGGACC others(526): Show AGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTC TGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGG AGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAG TGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTG TGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGG AGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAG CGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTG GCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAG GACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCA GACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTG GACAAGAGCAGACCCGGGAGGACCTCTGTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	288	0.0035	-533	c.466 others(17): Show c.466-1919_466-1387del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
NKD2_chr5_1003802_1043943	1024921	TCTGTGGG others(526): Show TCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTG TGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACC CGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGG CGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	319	0.0031	-533	c.142 others(17): Show c.142-7212_142-6680del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NOS1AP_chr1_162064691_162375475	162260958	CCTCAAAG others(526): Show CCTCAAAGTTTCAAGCAATAATTATTTCATTAGAATTTGTTATATTCCCA AGGTGACTAATATAACAAATTAGAATTTGTTATATTCCCAAGATGACTAA TATAACAAATTAGAATTTGTTATACTCCCAAAGTGCCTTGAAAGTTAATA TTTATTTGGAGATATATATGTTCAGGTATACTTGGCAGAAACAACCAGTA AATCTCATTGGTCTGGCATCAGAGAATGAGGTTCTCCATATAAGTAAAAT TTCCAGGGAACTCAAGCTTTCCCCTCTAAGCATCAGTCCTATCTTTCAAA ATCAATAACATTTAATTACAATATTTTATAACCTTTCATGTCCCCTTGTT CTTAAACAATATCCTGATGTTACCTTCTATGGCAGCAGGGAGTTTGCAGA TTCTTAATGTGCAAACTTTTAAGAATCTTGAGATGGGAGATTACCCTGCA TTATCCAGGTGGGCTCAATCTAATCACAAGAGTCCTTATAGAAGAGAGGC AGCGGGGAGTCAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01070.hp2 others(5): Show HG00642.hp2 HG01069.hp1 HG01070.hp2 HG01243.hp2 HG01978.hp1 HG03540.hp1 NA18945.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0041 a0001c0001t0001g0126 a0001c0001t0002g0021 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0126 a0001c0001t0002g0021 a0001c0001t0002g0094 a0001c0001t0004g0037 a0001c0002t0001g0032 a0001c0002t0001g0042 a0001c0002t0002g0070	8	182	0.0440	-533	c.178 others(19): Show c.178-26385_178-25853del	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289458	TCTCTGCC others(526): Show TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	290	0.0035	-533	c.166 others(17): Show c.1663-810_1663-278del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGTA_chr19_2749715_2788273	2772787	AGGGACAC others(526): Show AGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACC GAGGGCAGAGGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGA AATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGA CGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCAGCCAC ACGGCAGGGACTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGG ACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGG GCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTG GGTGACGCGGCCACACGGCAGGGACTCCGAGGGCAGAGGTGGGTGACGCG GCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGG CAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACAC CGAGGGCAGAGATGGGTGACGCGGCCACACGGCG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0162 a0001c0003t0003g0162	1	396	0.0025	-533	c.-23 others(17): Show c.-23-4229_-23-3697del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2773439	CGGCAGGG others(526): Show CGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGA CACCGAGGGCAGAGGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGG CAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGG GTGACACGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGACGCGG CCACAGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGC AGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCGGGGACACC GAGGGCAGAGGTGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGA GGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGA CGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCAC ACGGCAGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGG ACTCCGAGGGCAGAGATGGGTGACGCGGCCACAG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG02622.hp2 others(5): Show HG00438.hp1 HG01891.hp1 HG02622.hp2 HG02896.hp1 HG02922.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 others(4): Show a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0064 a0001c0003t0004g0016 a0001c0003t0004g0170	8	396	0.0202	-533	c.-23 others(17): Show c.-23-4881_-23-4349del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
TAFA5_chr22_48484553_48756932	48667960	ACCGCGTC others(526): Show ACCGCGTCTTCACTGGGAACTGTAATCCCCCAGCACTCAGGGCCGCGTCT TCACTGGGAGCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCACCGGGA GCGTTAATCCCCCAGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAATC CCCCAGCACTCAGGACCGCGTCTTCACTGGGAGCTGTAGTCCCCCAGCAC TCAGGACCGCGTCTTCACTGGGAGCTGTAATCCCCCAGCACTCAGGACCG CGTCTTCACTGGGAACTGTAATCCCCCAGCACTCAGGGCCGCGTCTTCAC TGGGAGCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCACTGGGAGTGT TAATCCCCCAGCACTCAGGGCCGCATCTTCACTGGGAGCTGTAGTCCCCC AGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAATCCCCCAGCACTCGG GGCCGCGTTTTCACTGGGAGCTGTAATCCCCCAGCACTCAGGGCCGCATC TTCACTGGGAGTGTTAATCCCCCAGCACTCAGGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02615.hp1 HG02647.hp1 others(2): Show HG01496.hp2 HG02615.hp1 HG02647.hp1 HG02965.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015	a0001c0001t0002g0046 a0001c0001t0002g0074 a0001c0001t0002g0193 others(2): Show a0001c0001t0002g0046 a0001c0001t0002g0074 a0001c0001t0002g0193 a0001c0001t0003g0238 a0001c0001t0015g0005	5	258	0.0194	-533	c.262 others(19): Show c.262+21232_262+21764del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 10000 hits)