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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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
EXOC2_chr6_480154_698139	601846	GAATCCAC others(593): Show GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC A	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	272	0.0037	-600	c.743 others(17): Show c.743-3221_743-2622del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FER_chr5_108742897_109201841	108969614	TTTGAACA others(593): Show TTTGAACACTGTGAATGTATTACCTATTCAAAAGGTAAGATTAAGAAATA TTGAAAACATGGCACCTGTCCTCAAGCAAATATAAATTTTTAGGATGATG CTTTATTGAGAAATTATTGATAAGAAGACAAAATATTCATGCTATATATT GTTAAAGTAGGAAAAGCAGTTTATAAAATAGCATTATGGTATTTATCTGA TTTTTATTAAATAAAGTATAGATATCCAAATACATGGAAAAAGTTGGAAG GCTATATTCCAGGATATTAATTATGATTACCTTAGAGTGGAGTAGTAATG GGTGATTTGGGGCAGTTTAAAAACGTTTTTCATTGAACATGTTACTATGT TTGTAATATGAACATTTTCTAAAATTATATTACATGCTAATGTTTTGTAG AACACTATAGAGCAATGTTTTAAAAACTATTTTTCCCATAATTTATATGA AGAAATCGCATTGTAGTTTAAGACTCAGGACACACAAACTTGAGAGTATT GATATTTATGTGTGTGCGTAACTAAAACAAGTTTTCCAAACACTGTTTTA TGCTTCCTAAATGAGCTGCATTATATTTAATTTATTTGATTTATTTATTT A	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp2 HG02647.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0008 a0003c0009t0008 a0001c0001t0008 a0003c0009t0008	a0001c0001t0008g0047 a0003c0009t0008g0056 a0001c0001t0008g0047 a0003c0009t0008g0056	2	138	0.0145	-600	c.165 others(21): Show c.1656+10270_1656+10869del	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT9_chr12_132191372_132334589	132290770	ACCACAGC others(593): Show ACCACAGCACCCACGTCCACAGCACCCACGTCCACAGCACCCACGTCCAC AGCACCCACGTCCACAGCGCACACGTCCACAGCACCCACAACCACAGCGC CCACGTCCACATCACCCACATCCACAGCACCCACGTCCACAGCACCCACA TCCAGAGCACCCACGTCCACACCACCCACATCCACAGCGCCCACATCCAC AGCACCCACAACCACAGCACCCACAACCACAGTGCCCACGTCCACACCAC CCACATCCACAGCGCCCACGTCCACAGCGCCCACATCCTCAGCACCCACA ACCACAGCACCCACGTCCACATCACCCACGTCCATAGCACCCACATCCAC AGCACCCACATCCACAGCACCCACAACCACAGCACCCACGTCCACAGCAC CCACAACCACAGCACCCACAACCACAGTGCCCACGTCCACACCACCCACA TCCACAGCGCCCACGTCCACAGCGCCCACGTCCTCAGCGCCCACAACCAC AGCACCCACGTCCACATCACCCACGTCCATAGCACCCACATCCACAGCAC CCACATCCACAGCACCCACAACCACAGCACCCACGTCCACAGCACCCACG T	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01978.hp1 others(14): Show HG00408.hp1 HG00673.hp1 HG01978.hp1 HG01981.hp2 HG02080.hp1 HG02135.hp2 HG02717.hp2 HG02738.hp2 HG03017.hp1 HG03942.hp2 NA18961.hp1 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0004 a0001c0006 others(7): Show a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0014 a0001c0041 a0003c0033 a0006c0037	a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 others(7): Show a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0002 a0001c0011t0001 a0001c0014t0003 a0001c0041t0015 a0003c0033t0001 a0006c0037t0001	a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0105 others(14): Show a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0105 a0001c0002t0001g0130 a0001c0002t0001g0135 a0001c0002t0001g0163 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0006t0001g0098 a0001c0007t0001g0015 a0001c0008t0002g0176 a0001c0011t0001g0116 a0001c0011t0001g0129 a0001c0014t0003g0146 a0001c0041t0015g0178 a0003c0033t0001g0114 a0006c0037t0001g0010	17	183	0.0929	-600	c.239 others(17): Show c.239-4940_239-4341del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132290810	CCACGTCC others(593): Show CCACGTCCACAGCACCCACGTCCACAGCGCACACGTCCACAGCACCCACA ACCACAGCGCCCACGTCCACATCACCCACATCCACAGCACCCACGTCCAC AGCACCCACATCCAGAGCACCCACGTCCACACCACCCACATCCACAGCGC CCACATCCACAGCACCCACAACCACAGCACCCACAACCACAGTGCCCACG TCCACACCACCCACATCCACAGCGCCCACGTCCACAGCGCCCACATCCTC AGCACCCACAACCACAGCACCCACGTCCACATCACCCACGTCCATAGCAC CCACATCCACAGCACCCACATCCACAGCACCCACAACCACAGCACCCACG TCCACAGCACCCACAACCACAGCACCCACAACCACAGTGCCCACGTCCAC ACCACCCACATCCACAGCGCCCACGTCCACAGCGCCCACGTCCTCAGCGC CCACAACCACAGCACCCACGTCCACATCACCCACGTCCATAGCACCCACA TCCACAGCACCCACATCCACAGCACCCACAACCACAGCACCCACGTCCAC AGCACCCACGTCCACAGCACCCACGTCCACAGCACCCACGTCCACAGCGC A	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02809.hp1 HG02976.hp1 HG01167.hp1 HG02809.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0003 a0001c0001t0001 a0001c0014t0003	a0001c0001t0001g0072 a0001c0014t0003g0074 a0001c0014t0003g0153 a0001c0001t0001g0072 a0001c0014t0003g0074 a0001c0014t0003g0153	3	183	0.0164	-600	c.239 others(17): Show c.239-4980_239-4381del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GIP_chr17_48953554_48973596	48959756	TGTAGGGA others(593): Show TGTAGGGACAGGCAGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACA GGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCAC AGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCACAGGATGGGCT CAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTG GGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACA GGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGCCAC AGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCGGGACACAGGATGGGCT CAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTG GGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACA GGCGGGACATAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCAC AGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCT CAGCTCTGTGTGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTG G	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0064 a0001c0001t0001g0070	2	406	0.0049	-600	c.452 others(16): Show c.452+530_453-1041del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
GIP_chr17_48953554_48973596	48959796	GGTAGGGA others(593): Show GGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACA GGCAGGCCACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCAC AGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCT CAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTG GGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACA GGCGGGCCACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCGGGACAC AGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCT CAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTG GGTAGGGACAGGCGGGACATAGGATGGGCTCAGCTCTGTGTGTAGGGACA GGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACAC AGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCGGGACACAGGATGGGCT CAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCTGTG T	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19240.hp2 HG02818.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0068 a0001c0001t0001g0069	2	406	0.0049	-600	c.452 others(16): Show c.452+490_453-1081del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
GIP_chr17_48953554_48973596	48959812	ACACAGGA others(593): Show ACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATG GGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTC GGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGG GACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGG CCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGCCACAGGATG GGCTCAGCTCTGTGTGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTC GGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGG GACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGG ACATAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCACAGGATG GGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTC TGTGTGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGG GACAGGCGGGACACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGG C	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG00741.hp2 others(51): Show HG00558.hp2 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01255.hp2 HG01515.hp1 HG01517.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18946.hp1 NA18975.hp2 NA18984.hp1 NA19030.hp1 NA19043.hp1 NA19087.hp2 NA20129.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0003 a0001c0001 a0005c0003	a0001c0001t0001 a0005c0003t0001 a0001c0001t0001 a0005c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0025 others(29): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0182 a0005c0003t0001g0065	54	406	0.1330	-600	c.452 others(16): Show c.452+474_452+1073del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
KCNG2_chr18_79792938_79905100	79808185	CCTGAGGA others(593): Show CCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCA CACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGGAC ACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGC TCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCA CACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGGAC ACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGC TGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGC T	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0091 a0002c0002t0002g0091	1	312	0.0032	-600	c.-11 others(21): Show c.-115+10237_-115+10836del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIMA1_chr12_50170788_50288520	50170882	GGGTTCAC others(593): Show GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCTTTTTTTTTTTTTTTTTTGAAACGGAGTCTCGGTCTGTAGCCCAG GCTGGAGTGCACTGGCGGGATCTCGGCTCACTTCAGCCTCCGTCTCCTGG ATTCAAGCTATTCTCTCCCCTCAGCCTCCCGAGTAGCTAGGATTACAGGC AGGCTCCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAGATTGTGTT TCGCTATGTTGGCCATGGAACTCCTGACCCAAGTGATCCACCCGCCTGGG CCTCGCAAATGGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCGAAT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCC AGGCTGGAGAGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTTCC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0293 a0001c0001t0006g0293	1	294	0.0034	-600	c.55 others(11): Show c.5582_*6181del	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding		4905		chr12	TogoVar
MUC4_chr3_195741771_195816929	195777299	CCCATACC others(593): Show CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTT CCACACCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCAT ACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA CCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA G	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01106.hp2 others(2): Show HG00280.hp2 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01515.hp2	a0026 a0175 a0178 others(1): Show a0026 a0175 a0178 a0179	a0026c0009 a0175c0031 a0178c0034 others(1): Show a0026c0009 a0175c0031 a0178c0034 a0179c0032	a0026c0009t0002 a0175c0031t0001 a0178c0034t0002 others(1): Show a0026c0009t0002 a0175c0031t0001 a0178c0034t0002 a0179c0032t0002	a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 others(2): Show a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 a0178c0034t0002g0194 a0179c0032t0002g0193	5	249	0.0201	-600	c.129 others(20): Show c.12943+404_12943+1003del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
NXN_chr17_794310_984776	898388	ATTCCCAC others(593): Show ATTCCCACTCTGCCATCTGGAGCTCGTCCGGACGCCACCTCCTCTGAGAA ACTACTCTGAGGCCAGGTGTAATGTCTCACCCCTGTAATCCCAGCACCCT GCCTGGAACAGCTTTGATCTTCTTTACCTACTAACTCTTACTCTGCCGTC AGGAACTCGTCCGGACGCCATCTCCTCTGAGAAACTACTCTGAGGCCAGG CGCAATGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGA GGACCACTTCAGGCCAGGAGTTCAAGACCAGGCTGGGTAAGATGGAGAAA TTTCATCTTTACAAAAAATACAAAAATTAGCCAGGACGGTAGTGCACACC TATAGTTCCAAGCTGAGGTGGGAGGACTGCTTGAAACTGGGAGGTCGAGG CTGCAGTGAGCCATGAGGGCACCACTGCACTCCAGCCTGGGTGACAAAAC AGACTGTCTCAAAAAAACAAAAACAAAACAAAAAAACTACTCTGAAAGTC ATTTCTTCCTATCCCCTCCCTGCAAAGAAGGAAGGACAGGGCTGGGATTC TGCCTCTGTGCATGCTTTTTTTTTTTTTCTTTTTTTTTGAGACAGAGCCT T	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(156): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0002t0004 a0001c0002t0009 a0001c0003t0001 a0001c0006t0005 a0001c0007t0001 a0001c0009t0013 a0001c0011t0004 a0004c0008t0002	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 others(156): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0067 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0020 a0001c0001t0003g0028 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0070 a0001c0001t0003g0078 a0001c0001t0003g0084 a0001c0001t0003g0097 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0130 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0193 a0001c0001t0003g0208 a0001c0001t0003g0227 a0001c0001t0004g0039 a0001c0001t0004g0096 a0001c0001t0004g0129 a0001c0001t0004g0152 a0001c0001t0004g0155 a0001c0001t0005g0032 a0001c0001t0005g0048 a0001c0001t0005g0055 a0001c0001t0005g0108 a0001c0001t0005g0161 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0123 a0001c0001t0006g0168 a0001c0001t0006g0184 a0001c0001t0006g0202 a0001c0001t0007g0073 a0001c0001t0008g0176 a0001c0001t0008g0192 a0001c0001t0010g0003 a0001c0001t0010g0006 a0001c0001t0011g0013 a0001c0001t0013g0220 a0001c0001t0014g0109 a0001c0001t0014g0113 a0001c0001t0015g0239 a0001c0001t0015g0240 a0001c0001t0016g0001 a0001c0001t0017g0002 a0001c0001t0018g0005 a0001c0001t0019g0004 a0001c0001t0020g0164 a0001c0001t0021g0019 a0001c0001t0022g0151 a0001c0001t0024g0011 a0001c0001t0025g0200 a0001c0001t0026g0173 a0001c0001t0027g0010 a0001c0001t0029g0134 a0001c0001t0030g0237 a0001c0001t0031g0238 a0001c0001t0033g0241 a0001c0002t0004g0016 a0001c0002t0004g0043 a0001c0002t0004g0158 a0001c0002t0009g0008 a0001c0002t0009g0009 a0001c0003t0001g0223 a0001c0006t0005g0080 a0001c0007t0001g0089 a0001c0009t0013g0196 a0001c0011t0004g0234 a0004c0008t0002g0150	159	242	0.6570	-600	c.361 others(19): Show c.361-72910_361-72311del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PDCD1_chr2_241844884_241863894	241847143	TTGAGTTC others(593): Show TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGACAATGGATGAATGAGAGCC TTGAGTTCTGGATGCTGGCGCGCCGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGACGCTGGTGCGCAGCGCTGTCAATGGATGAATGAAAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGTGCTGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGACGCTGGCGCGCTGCGCTGTCAATGGATGAATGAGAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCC TTGAGTTCTGGATGCTGGCGTGCTGCGCTGTCAGTGGATGAATGAGAGAC GTGAGTTCTGGACGCTGGCGCGCTGCGCTGTCAATGGATGAATGAAAGCC TTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGTATGAGAGCC TTGAGTTCTGGATGCTGGTGCGCTGCGCTGTCAATGGATGAATGAGAGCC G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG02004.hp2 HG03209.hp1 others(3): Show HG01168.hp2 HG02004.hp2 HG03209.hp1 NA18942.hp1 NA18962.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0088 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0088	6	407	0.0147	-600	c.33 others(11): Show c.3315_*3914del	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2740		chr2	TogoVar
PPP6R2_chr22_50338327_50450090	50344236	TTTCCCCC others(593): Show TTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCC CCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCCAGTC AGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTT CCCCCCCCAGTCAGTGCCCCCTTCAGTCAGTTCCCCCAGTCAGTGCCCCC TCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAG TCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTG CCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCC CCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGT CAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATT CCCCCTAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCTCC TCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGT CAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCCCCCTCTAGTCA G	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp2 HG02109.hp1 others(5): Show HG00741.hp2 HG01496.hp2 HG02109.hp1 HG02486.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0019 a0001c0001t0031 a0005c0011t0008 a0001c0001t0019 a0001c0001t0031 a0005c0011t0008	a0001c0001t0019g0306 a0001c0001t0019g0307 a0001c0001t0019g0308 others(5): Show a0001c0001t0019g0306 a0001c0001t0019g0307 a0001c0001t0019g0308 a0001c0001t0031g0309 a0005c0011t0008g0310 a0005c0011t0008g0311 a0005c0011t0008g0312 a0005c0011t0008g0313	8	340	0.0235	-600	c.-14 others(18): Show c.-148+694_-148+1293del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRR16_chr5_120459300_120692314	120574531	GAGGCAGA others(593): Show GAGGCAGAGGTTGCAGAATCAAGATCATGCCATTGCACTCCAACCTGGGA AAGAGAGCAAGACTCTGTCTCAAAAACAAAAACAACAACGACGAAAAAAG GATATCCAAATTAACCATAAATATATGAAACAGTACTCAATTTCATTAGT CAAAGAGAAATGCAAATTAAAACCACTTTATAATATTTGTAAACTAAAAT TATTAAAAAATAGATATTGAATATTGGTGAAGACTTGCAGCAACAAGAAC TCTCATACACTGTTGGTAAAAATGTAAATTGACACAACTACTTTGACAAC TGTTCGAGAGTGTACTAAAGCTGAAAACAATGCAAACATTAAAACCTAGA AATTCCATTTATAGGTACATAACAAAGGAATTTGTTCGTATACAGCAGTC TCCCCTTATACACAGTTTCAGTTACCCATGGTCATCCATGGTCTAGAAAT AGGTGAGTGCATTTCAATAAGGTGTTTTGAGAGAGAGAAATCACATTCAT ATAACTTTTATTATAGTGTTGTAGCCTTTTAATTATTACTTATTATTGTT AATCTCAGAATATACCTTATACATTAATCTTTGTCAAAGGTATGTATGTG T	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG01891.hp2 others(13): Show HG01074.hp1 HG01243.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02630.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 a0001c0001t0001 a0001c0001t0006 a0001c0003t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0021 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0159 a0001c0001t0006g0056 a0001c0003t0003g0098	16	170	0.0941	-600	c.159 others(21): Show c.159+109892_159+110491del	PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
RHD_chr1_25267509_25335445	25331046	CAACCTCT others(593): Show CAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGTGCCCACCATCATGCCTGGCTAATTTTTGTATTT TTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCT GACCTTGTCATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGC GTGAGCCACCGCACCCGGCCTCTTCCTCTTCTTATAAGGACACCAGTCCT ATTAGATTAGGGCTCCACCCTCATAACCTCATTTGACCTTAACTATTATT TCTTTAAAGCACCTATTTCCAAATATAGTCACTTTAGGGGTTAGGGCTTC AAAAGATGAATCTGAGGGAGCTCAATTCAGTAAATAGCAGTAGTCATTAA TGGACAATGTATACAAAGATAATTTCGTGATTACTGTCCTTATGCATAAA CGTCCTCAGTGTTCCACTGCGTTTATCCAGATTTAGTATCACAAAGACTT TGCTCTGAGAAAAATGTGATTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTTGCTCTGTCACCCAGGATGGAGTGCAGTGGTGCAATCTCGGCTCACTG A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18977.hp2 NA18978.hp2 others(1): Show NA18969.hp1 NA18977.hp2 NA18978.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0146	4	214	0.0187	-600	c.21 others(11): Show c.2123_*2722del	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding		602		chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974581	CAGGGAAA others(593): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC T	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	150	0.0067	-600	c.532 others(19): Show c.532-45244_532-44645del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975013	TAGGGAAA others(593): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCC C	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG04228.hp2 HG01081.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0027 a0001c0002t0002g0037 a0001c0001t0002g0027 a0001c0002t0002g0037	2	150	0.0133	-600	c.532 others(19): Show c.532-45676_532-45077del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
ZNF516_chr18_76352682_76500242	76394144	CAGGTGGT others(593): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG G	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18946.hp1 NA18954.hp2 others(2): Show HG03491.hp2 NA18946.hp1 NA18954.hp2 NA18967.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0030	a0001c0001t0004g0081 a0001c0001t0005g0201 a0001c0001t0010g0313 others(2): Show a0001c0001t0004g0081 a0001c0001t0005g0201 a0001c0001t0010g0313 a0001c0001t0012g0213 a0001c0001t0030g0310	5	346	0.0145	-600	c.181 others(21): Show c.1811-14441_1811-13842del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADARB2_chr10_1172313_1742525	1239381	CCCCCCTG others(592): Show CCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCC GGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	106	0.0094	-599	c.136 others(19): Show c.1361+2151_1361+2749del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
BTBD9_chr6_38163451_38644929	38436110	GCCTAGTA others(592): Show GCCTAGTACTGATAAGTAGATAAATAGAAAGTACCATTTCAATAAACGTA AAAAATGAAGTTAAGAGGTAAAGATTCCTGCCCATAGTCAACATAAGCAG TAGAATGAGGAACACCCAAAAAGACACATTCCAATTTCCTGTCTTAAATC CAAATCTCCCACGCTACTTTCTATAAATACTTTATTTTCCAACACTGAGA AGAAGGGCTATAGAATCTTCTGTATGTGAAACTAATGAAGCAATAATATC TACCCCAATTCTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTC TTGTTGCCCAGGCTGGAGGGCAACGGCACGATCTCGGCTCACTGCAACCT CTGCCTCCCATGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAGCTG GGATTATAGGCGTGCGAAACCACGCCCAGCTAATTTTTGTATTTTTAGTA GAGACGGAGTTTCACCCTGTTGGTCAGGCTGGTCTCAAATTCCTGACCTC AGGTCATCCGCCTGCCTTGGCCTCCCAGAATGCTGGGATTACAGGCATGA GCCACCACACCTGGCCCAAATTCTAATTTGGATATATGTTGACATCAACT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02055.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0136 a0001c0001t0114 a0001c0001t0136	a0001c0001t0114g0013 a0001c0001t0136g0142 a0001c0001t0114g0013 a0001c0001t0136g0142	2	224	0.0089	-599	c.115 others(21): Show c.1155-91616_1155-91018del	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
FER_chr5_108742897_109201841	108969615	TTGAACAC others(592): Show TTGAACACTGTGAATGTATTACCTATTCAAAAGGTAAGATTAAGAAATAT TGAAAACATGGCACCTGTCCTCAAGCAAATATAAATTTTTAGGATGATGC TTTATTGAGAAATTATTGATAAGAAGACAAAATATTCATGCTATATATTG TTAAAGTAGGAAAAGCAGTTTATAAAATAGCATTATGGTATTTATCTGAT TTTTATTAAATAAAGTATAGATATCCAAATACATGGAAAAAGTTGGAAGG CTATATTCCAGGATATTAATTATGATTACCTTAGAGTGGAGTAGTAATGG GTGATTTGGGGCAGTTTAAAAACGTTTTTCATTGAACATGTTACTATGTT TGTAATATGAACATTTTCTAAAATTATATTACATGCTAATGTTTTGTAGA ACACTATAGAGCAATGTTTTAAAAACTATTTTTCCCATAATTTATATGAA GAAATCGCATTGTAGTTTAAGACTCAGGACACACAAACTTGAGAGTATTG ATATTTATGTGTGTGCGTAACTAAAACAAGTTTTCCAAACACTGTTTTAT GCTTCCTAAATGAGCTGCATTATATTTAATTTATTTGATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp1 NA18906.hp2 others(1): Show HG02886.hp2 HG02965.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0115 others(1): Show a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0009g0082	4	138	0.0290	-599	c.165 others(21): Show c.1656+10270_1656+10868del	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT9_chr12_132191372_132334589	132290798	CGTCCACA others(592): Show CGTCCACAGCACCCACGTCCACAGCACCCACGTCCACAGCGCACACGTCC ACAGCACCCACAACCACAGCGCCCACGTCCACATCACCCACATCCACAGC ACCCACGTCCACAGCACCCACATCCAGAGCACCCACGTCCACACCACCCA CATCCACAGCGCCCACATCCACAGCACCCACAACCACAGCACCCACAACC ACAGTGCCCACGTCCACACCACCCACATCCACAGCGCCCACGTCCACAGC GCCCACATCCTCAGCACCCACAACCACAGCACCCACGTCCACATCACCCA CGTCCATAGCACCCACATCCACAGCACCCACATCCACAGCACCCACAACC ACAGCACCCACGTCCACAGCACCCACAACCACAGCACCCACAACCACAGT GCCCACGTCCACACCACCCACATCCACAGCGCCCACGTCCACAGCGCCCA CGTCCTCAGCGCCCACAACCACAGCACCCACGTCCACATCACCCACGTCC ATAGCACCCACATCCACAGCACCCACATCCACAGCACCCACAACCACAGC ACCCACGTCCACAGCACCCACGTCCACAGCACCCACGTCCACAGCACCCA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0121 a0001c0004t0001g0121	1	183	0.0055	-599	c.239 others(17): Show c.239-4967_239-4369del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
KXD1_chr19_18552870_18574378	18565507	CAGGCGTG others(592): Show CAGGCGTGAGCCACTGCGCCCGGCCGAGACAGAGTCTTGATCTGTGGCCC TGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCT GGATTCAAGCGATTCTTGTGCTTCAGCCTTCTGAGTAGCTGGGTCTACAG ACATACTGTACCACACCCAGCTAATTTTTGTTGTTGTTGTTTTATTTTTG AGGTGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATGTC AGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCAG CCTCCTGAGTAGCTGGGACTACAGGCGCATGCTGCCACGCCCAGCTGATT TTTTGTATTTTAGTAGAGACGAGATTTCACCGTGTTGCCCAGGCTAGTCT CAAACTCCTGAGCTCCAGCACTCTGCCTGCCTCGGCCTCCTAAAGTGTTG GGATTACAGGTGTGAGCCTAATTTTTGTATTTTGTGTAATTTTTGTATTT TTTTAGTAGAGACAGGGTTTCCCCATGTTGGCCAGGCTCATCTCGAAGTC CTGGCCTCAGATGATCCATCCACCTCGACCTCCCAAAGTGCTGGGATTAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	396	0.0025	-599	c.254 others(16): Show c.254+491_255-1022del	KXD1	ENSG00000105700.11	transcript	ENST00000222307.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MGRN1_chr16_4619826_4695972	4627539	TCACTTTG others(592): Show TCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATGGAGAC CATCCTGGCTAACACGGGGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTTAGCCGGGCGTGATGGCAGGCGTCTATAGTCCCAGCTACGCGGGAGGC TGAGGCAGGCTGAATTGCTTGAAGCTGAGAGGTGGAGGCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCT CAAAAAAAAAGGCTGGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTT GGGAGGCTGAGGCAGGTGGATCACAAGGTCAGGAGATCAAGACCATCCTG GCTAACACCGTGAAACCCCATCTCTACCAAAAATACAAAAAATTAGCTGG GTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGG AGAATGGTGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGACTGCGC CACTGCACTCCAGCCTAGGTGTCAGAGTGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAGAATTGTGGGTGGGTGCGGTGGCTCACGCCTGTAATCCCAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	334	0.0030	-599	c.88+ others(15): Show c.88+2506_88+3104del	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
TPO_chr2_1408463_1548673	1444373	TGGCTCCT others(592): Show TGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGTACCATG TTGGAAGGGAATGGAGCTGGCTCCTTCTTGTTTGTATGATGCAGTCATTG CTGCAGGAGGTACTGTGTTGGAAGGGAATGGGGCAGGCTCCTTCTTGTTT GTATGATCCAGTCATTGCTGCAGGAGGCACCATGTTGGAAGGAAATGGGG CAGGCTCCTTCCTGTTTGTATGATCCAGTCACTGCTGCAGGAGTCACCAT GTTGGAAGGGAATGGGGCAGGCTCCTTCTTGTTTGTATGATCCAATCACT GCTGCAGGAGGCACCATGTTGGAAGGGAATGGGCAGGCTCCTTCCTGTTT GTATGATCCAGTCATTGCTGCAGGAGGCACTGTGTTGGAAGGGAATGAGC AGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGTACCCTG TTGGAAGGTAATGGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCATTGC TGCAGGAGGCACCATGCTGGAAGGGAATGGGCAGGCTCCTTCTTGTTTGT ATGATCCAGTCATTGCTGCAGGAGGTACCATGTTGGAAGGGAATGGGGCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(72): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02735.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03654.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18985.hp1 NA18985.hp2 NA18999.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19088.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0000 a0001 a0002 others(6): Show a0000 a0001 a0002 a0003 a0007 a0008 a0009 a0012 a0019	a0000c0019 a0001c0001 a0001c0004 others(13): Show a0000c0019 a0001c0001 a0001c0004 a0002c0002 a0002c0015 a0003c0006 a0007c0020 a0007c0021 a0007c0022 a0007c0027 a0008c0011 a0008c0016 a0008c0028 a0009c0012 a0012c0023 a0019c0024	a0000c0019t0004 a0001c0001t0001 a0001c0001t0002 others(28): Show a0000c0019t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0004t0001 a0001c0004t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0002c0002t0013 a0002c0002t0014 a0002c0015t0003 a0002c0015t0004 a0003c0006t0004 a0007c0020t0004 a0007c0021t0004 a0007c0022t0002 a0007c0027t0002 a0008c0011t0006 a0008c0011t0015 a0008c0016t0003 a0008c0028t0003 a0009c0012t0002 a0009c0012t0006 a0012c0023t0001 a0019c0024t0005	a0000c0019t0004g0007 a0001c0001t0001g0022 a0001c0001t0001g0030 others(72): Show a0000c0019t0004g0007 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0003g0077 a0001c0001t0005g0073 a0001c0001t0007g0013 a0001c0001t0010g0054 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0091 a0001c0004t0001g0107 a0001c0004t0001g0110 a0001c0004t0001g0113 a0001c0004t0009g0104 a0002c0002t0001g0006 a0002c0002t0002g0004 a0002c0002t0003g0011 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0003g0127 a0002c0002t0006g0027 a0002c0002t0009g0062 a0002c0002t0013g0119 a0002c0002t0014g0008 a0002c0015t0003g0111 a0002c0015t0004g0112 a0003c0006t0004g0103 a0007c0020t0004g0018 a0007c0021t0004g0031 a0007c0022t0002g0034 a0007c0027t0002g0098 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0011t0015g0120 a0008c0016t0003g0020 a0008c0028t0003g0003 a0009c0012t0002g0126 a0009c0012t0006g0124 a0009c0012t0006g0125 a0012c0023t0001g0015 a0019c0024t0005g0009	75	130	0.5769	-599	c.482 others(17): Show c.482+8255_483-8457del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1444635	TGGGGCAG others(592): Show TGGGGCAGGCTCCTTCTTGTTTGTATGATCCAATCACTGCTGCAGGAGGC ACCATGTTGGAAGGGAATGGGCAGGCTCCTTCCTGTTTGTATGATCCAGT CATTGCTGCAGGAGGCACTGTGTTGGAAGGGAATGAGCAGGCTCCTTCTT GTTTGTATGATCCAGTCATTGCTGCAGGAGGTACCCTGTTGGAAGGTAAT GGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGCAC CATGCTGGAAGGGAATGGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCA TTGCTGCAGGAGGTACCATGTTGGAAGGGAATGGGGCAGGCTCCTTCTTG TTTGTATGATCCAGTCATTGCTGCAGGAGGTACCATGTTGGAAGGGAATG GAGCTGGCTCCTTCTTGTTTGTATGATGCAGTCATTGCTGCAGGAGGTAC TGTGTTGGAAGGGAATGGGGCAGGCTCCTTCTTGTTTGTATGATCCAGTC ATTGCTGCAGGAGGCACCATGTTGGAAGGAAATGGGGCAGGCTCCTTCCT GTTTGTATGATCCAGTCACTGCTGCAGGAGTCACCATGTTGGAAGGGAAT	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02004.hp1 HG00408.hp1 HG02004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0007	a0001c0001t0001g0080 a0002c0002t0007g0121 a0001c0001t0001g0080 a0002c0002t0007g0121	2	130	0.0154	-599	c.482 others(17): Show c.482+8255_483-8457del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPPP_chr5_654862_698352	691779	CATCAAAA others(592): Show CATCAAAACAGCCCCCAACCCTCATCAAAACAGCAGCCCTCAACCCCCAT CAAAACAGCAGCCCTCAACCCCCATCAAAACAGCAGCCCCCTAAACCCCC ATCAAAACAGCAGCCCCCCAAACCCCCATCAAGACAACAGCCCCCCCAAC CCGTATCAAAACAGCAGCCCCCAACCCCTCATCAAAACAGCAGCCCCCAG ACCCCATCAAAACAGCAGCCCCCCAACCCCTATCAAAACAGCAGCCTCCC AACCCCTATCAAAACAGCAGCCCCCAACCCCCTATCAAAACAGCAGCCCC CCTAAGCCCCCATCAAGACAGCAGCCTCCCAACCCCACATCAAAACAGCA GCCCCCCAGACCCCATCAAAACAGCAGCCCCCAACCACCTATCAAAACAG CAGCCCCCAACCCCTATCAAAACAGCAGCCCCCCAACCCCCTATCAAAAC AGTAGCCTCCCAACCACCTATCAAAACAGCAGCCTCCCAACCCCCTATCA AAACAGCAGCCCCCAAACCCCTATCAAAACTGCAGCTCCCAACCCCCTAT CAAAACAGCAGTCCCCCAACCCTATCAAAACAGCAGCCCTCCAACCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18943.hp1 NA20805.hp1 others(1): Show HG02622.hp1 NA18943.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0009 a0001c0002 a0001c0004 a0001c0009	a0001c0002t0037 a0001c0002t0095 a0001c0004t0037 others(1): Show a0001c0002t0037 a0001c0002t0095 a0001c0004t0037 a0001c0009t0096	a0001c0002t0037g0366 a0001c0002t0095g0365 a0001c0004t0037g0364 others(1): Show a0001c0002t0037g0366 a0001c0002t0095g0365 a0001c0004t0037g0364 a0001c0009t0096g0367	4	409	0.0098	-599	c.-5+ others(14): Show c.-5+900_-5+1498del	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
ZNF516_chr18_76352682_76500242	76393414	GGGGGGAA others(592): Show GGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAG GGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	346	0.0029	-599	c.181 others(21): Show c.1811-13710_1811-13112del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ATP11A_chr13_112685038_112892168	112845176	AGTACTAA others(591): Show AGTACTAACCAGTCCAGTTTCCAGGCACTAGTGATACTAACCAGTCCAGT TGCCGGGCACTAGCAGTACTAACCAATCCAGTTGCCAGCACTAGCGGTAC TATTCAGTCCAGTTGCCAGGCACTAGTGGTTCTAACCAGTCCAGTTGCCG GCACTATCGGTACTAACCAGTCCAGTTGCCAGCACTAGCGGTACTATTCA GTCCAGTTGCCAGCACTAGCGGTACTATTCAGTCCAGTTGCCAGGCACTA GTGGTTCTAACCAGTCCAGTTGCCAGCACTAGCGGTACTATTCAGTCCAG TTGCCAGGCACTAGTGGTTCTAACCAGTCCAGTTGCCGGCACTAGCGGTA CTAACCAGTCCAGTTGCTGGCACTAGCGGTACTAACCAGTCCAGTTGCCA GGCACTAGTGGTTCTAACCAGTCCAGTTACCAGGCACTAGCGGTACTAAC CAGTCCAGTTGCCAGCACTAGCGGTACTATTCAGTCCAGTTACCAGGCAC TAGCGGTACTAACCAGTCCAGTTGCTGGCACTAGCGGTACTAACCAGTCC AGTTACCAGGCACTAGCGGTACTAACCAGTCCAGTTGCCGGCACTAGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(88): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01109.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18944.hp2 NA18950.hp1 NA18962.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19074.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0010 a0011 a0013 a0014	a0001c0001 a0001c0002 a0001c0014 others(14): Show a0001c0001 a0001c0002 a0001c0014 a0001c0020 a0001c0021 a0001c0022 a0001c0026 a0001c0039 a0001c0044 a0001c0045 a0003c0007 a0003c0047 a0005c0018 a0010c0037 a0011c0041 a0013c0036 a0014c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0052 a0001c0001t0055 a0001c0001t0060 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0072 a0001c0001t0073 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0012 a0001c0002t0013 a0001c0002t0030 a0001c0002t0032 a0001c0002t0059 a0001c0014t0003 a0001c0014t0043 a0001c0020t0008 a0001c0020t0068 a0001c0021t0024 a0001c0022t0001 a0001c0026t0001 a0001c0039t0037 a0001c0044t0045 a0001c0045t0014 a0003c0007t0005 a0003c0007t0011 a0003c0047t0001 a0005c0018t0001 a0010c0037t0001 a0011c0041t0001 a0013c0036t0062 a0014c0023t0002	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(88): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0002g0050 a0001c0001t0002g0206 a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0010g0095 a0001c0001t0010g0122 a0001c0001t0019g0018 a0001c0001t0021g0092 a0001c0001t0021g0240 a0001c0001t0022g0202 a0001c0001t0026g0227 a0001c0001t0052g0176 a0001c0001t0055g0161 a0001c0001t0060g0138 a0001c0001t0064g0220 a0001c0001t0066g0097 a0001c0001t0067g0093 a0001c0001t0072g0006 a0001c0001t0073g0171 a0001c0002t0001g0019 a0001c0002t0001g0032 a0001c0002t0001g0091 a0001c0002t0001g0102 a0001c0002t0001g0167 a0001c0002t0001g0180 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0190 a0001c0002t0006g0014 a0001c0002t0007g0237 a0001c0002t0012g0026 a0001c0002t0012g0028 a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0002t0013g0111 a0001c0002t0013g0211 a0001c0002t0030g0096 a0001c0002t0032g0179 a0001c0002t0059g0201 a0001c0014t0003g0178 a0001c0014t0043g0056 a0001c0020t0008g0063 a0001c0020t0068g0055 a0001c0021t0024g0047 a0001c0021t0024g0048 a0001c0022t0001g0196 a0001c0022t0001g0217 a0001c0026t0001g0067 a0001c0039t0037g0078 a0001c0044t0045g0133 a0001c0045t0014g0254 a0003c0007t0005g0001 a0003c0007t0005g0177 a0003c0007t0005g0205 a0003c0007t0011g0105 a0003c0007t0011g0115 a0003c0007t0011g0175 a0003c0047t0001g0038 a0005c0018t0001g0009 a0005c0018t0001g0168 a0010c0037t0001g0076 a0011c0041t0001g0169 a0013c0036t0062g0204 a0014c0023t0002g0064	91	254	0.3583	-598	c.180 others(19): Show c.1809+2853_1809+3450del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DLGAP2_chr8_732628_1713476	1393242	TCCCTCCT others(591): Show TCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCC TCATCGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCT CGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTC CTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCC AGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTTGTCTTCCGGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-598	c.107 others(21): Show c.107-108116_107-107519del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1398617	TGAGTCGT others(591): Show TGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCA CCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTC CTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTG TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG01496.hp1 others(8): Show HG00639.hp1 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG02647.hp2 HG02698.hp2 HG02976.hp2 HG03486.hp2 HG03710.hp1 NA18906.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0009 others(3): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0002c0004 a0004c0008	a0001c0002t0001 a0001c0002t0022 a0001c0003t0024 others(7): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0024 a0001c0009t0012 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0004t0003 a0002c0004t0018 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0022g0034 others(8): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0022g0034 a0001c0003t0024g0003 a0001c0009t0012g0006 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0022 a0002c0004t0003g0009 a0002c0004t0018g0010 a0004c0008t0016g0029	11	40	0.2750	-598	c.107 others(21): Show c.107-102722_107-102125del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOP1B_chr21_36151824_36299274	36215812	GGACCAGC others(591): Show GGACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAA AATTAGCTGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGG CTGAGGCAAGAGAATCGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTC AAAAAGAAAAGAAATTTGCGGCCAGGTGTGGTGGCTCACACCTGTAATCC CAGCACTTTGGGAAGCTGAGGCAGGTGGATCATGAGGTCAGGAGTTCAGG ACCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAA TTAGCTGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCCACTCGGGAGGCT GAGGCAAGAGAATCGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAA AAAGAAAAGAAATTTGCGGCCAGGTGTGGTGGCTCACACCTGTAATCCCA GCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	292	0.0034	-598	c.112 others(19): Show c.1129+1272_1129+1869del	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	9/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
ERICH1_chr8_659200_736224	659282	CATCCTGG others(591): Show CATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATC CTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGG GGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAG GGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGG TGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGAC CATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGTGACCATC GAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCGAGA TCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGATGACCATCGAGATCTC CGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGT GTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGC ACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTG ACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGCACTGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02970.hp1 HG03130.hp2 HG01255.hp1 HG02970.hp1 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0312 a0001c0003t0002g0313 a0001c0003t0002g0314 a0001c0003t0002g0312 a0001c0003t0002g0313 a0001c0003t0002g0314	3	378	0.0079	-598	c.47 others(11): Show c.4723_*5320del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4917		chr8	TogoVar
OTUD7A_chr15_31470398_31875673	31510705	AACATACA others(591): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACA TATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATA TGTATATCTATATGTAACATATGTATATCTATATGTAACATATGTATATC TATATGTAACATACATGTATATCTATATGTAACATACATGTATATCTATA TGTAACATACATATATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACACACATATGTATATC TATATGTAACACACATACATATGTATATCTATATGTAACACACATACATA TGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02647.hp2 HG02145.hp1 HG02622.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0084 a0001c0002t0029 a0001c0006t0087 a0001c0001t0084 a0001c0002t0029 a0001c0006t0087	a0001c0001t0084g0219 a0001c0002t0029g0235 a0001c0006t0087g0213 a0001c0001t0084g0219 a0001c0002t0029g0235 a0001c0006t0087g0213	3	244	0.0123	-598	c.894 others(17): Show c.894-7485_894-6888del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RX5_chr17_3668227_3701155	3686544	GGGGCCCC others(591): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGA CCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCC TCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	362	0.0028	-598	c.981 others(16): Show c.981+870_981+1467del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687228	TCCCCCGC others(591): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCC TGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAA CACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGA GAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGC ACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp1 NA18522.hp1 HG01243.hp2 HG03516.hp1 NA18522.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0009 a0002c0002 a0005c0009	a0002c0002t0001 a0005c0009t0001 a0002c0002t0001 a0005c0009t0001	a0002c0002t0001g0021 a0002c0002t0001g0184 a0005c0009t0001g0344 a0002c0002t0001g0021 a0002c0002t0001g0184 a0005c0009t0001g0344	3	362	0.0083	-598	c.981 others(15): Show c.981+186_981+783del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PPP2R2D_chr10_131896008_131964834	131953141	TTGCGGGG others(591): Show TTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTTCAC TGTCTTAGCAGTGACTTGCGGTTGTGTGTGGGGGGGTTCACTGTCTTAGC AGTGACTTGCGGGGGGGTCCCTGTCTTAGCAGTGACTTGCAGGTATGCGG GGGTTCACTGTCTTAGTGACTTGCAGGTGTGCGGGGGTTCACTGTCTTAG TGACTTCCAGTTGTGCGGGGGGTTCACTTAGCAGTGACTTGCAGGTGTGT GGGGGGTTCACTGTCTTAGCAGTGACTTGCGGGGGGTCCCTGTCTTAGCA GTGACTTGCAGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGTGGGTGTG CGGGGGGTTCACTTAGTGACTTGCAGGTGTGCAGGGGGTTTCACTGTCTT AGCAGTGACTTGTGGTTGTGTGTGTGGGGGTCACTGTCTTAGCAGTGACT TGCGGGTATGCGGGGGTTCATTGTCTTAGTGACTTGCGGGTGTGCAGGGG TTCACTGTCTTAGTGACTTCCAAGTGTGCGGGGGGTTCACTGTCTTAGCA GTGACTTGCGGGTGTGTGGGGGGGTCACTGTCTTAGTGACTTGCTGGTG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0327	1	394	0.0025	-598	c.108 others(19): Show c.1083-2512_1083-1915del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC17A2_chr6_25907754_25935691	25927316	CAATTTGA others(591): Show CAATTTGATAGATTATTGTGATGGAAGCTATTTTAAAATGTTTTCGACAA TATTGAATTACATTAGAAAAATGCTAGTACTCTAGTGTACAAAGCAGGAT ACGCTGTGCACATCCACATACAGGAATAGAAACTGATTCACACAAGTGCC AGTAATGACTATTTCTGGGTTACAAAACAGGATGATCACTTCATTCTTTG TGACTTTCTATATTTACCAAGTGATTTTGTAAATAATTAGTAGATACTCA TTTTATATTCAGAAGTAGCTAAATGTATTTAAAAGAGCAATAATTGGACT TCATCAGCATGGCAAGTATAGTTTTCTGCTTTCCAAATATCTCTAGAATT CTGGGAATAGTATCTCTCCATCTAAATTTTGAATTTTGGGTGTTTGGAGA TTTTATTGTTGTTGTTGTTGTTGTTTTGTACAATGGACCCAAATGGAGGC CCAATTGCTAGTAAGATCAGGTCAGCACCAGGACAGATACTGGTTGTTGC TCTGCCTTAGAAGGCCTCCAAGTCTTGCTAACATCTGGATATCAGGAGTT CAGCTCATTGCTCTACACTCAGATCCTAGCTGAAGTCATCTGTGGTCAA	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0198	1	380	0.0026	-598	c.-83 others(17): Show c.-83-2035_-83-1438del	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding	1/11			chr6	TogoVar
TMEM255A_chrX_120253650_120316461	120296570	AGGTAAAA others(591): Show AGGTAAAAACAAAGTGCTATAGGAGCAGGGAATAATTCACGCAGCCAGGA ATATAATATATATATATTATATTATAATATAATATATATTATAATATAAT ATATATTATATTTAATATATATATTAAATATATTTAGGTAAATAAATTTA ATATATATTAAATATATTATATTATATTATATTATATATTATATATATTA AATATATTATATATCATATATAATATATATGATATATAATATATATCATA TATAATATATATGATATATAATATATATCATATATAATATATAATATATT ATATATCATATATATTATATATGATATATATAATATTATATATATATTAT ATATAATATTATATATATAATATTATATATATATTATATATAATATATAA TATTATATATATTATATATATATTATATATAATATATAATATTATATATA TTATATATATATAATATATAATATATAATATAATATATATAATATTATAT ATATTATATTATATTATAATATATATAATATTATATATATTATATTATAT TATAATATATAATATTATATATATTATATTATATTATAATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG06807.hp2 others(2): Show HG01243.hp1 HG03486.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0001c0002t0011	a0001c0001t0002g0274 a0001c0001t0006g0192 a0001c0002t0003g0193 others(2): Show a0001c0001t0002g0274 a0001c0001t0006g0192 a0001c0002t0003g0193 a0001c0002t0011g0148 a0001c0002t0011g0194	5	303	0.0165	-598	c.202 others(17): Show c.202-3117_202-2520del	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TPO_chr2_1408463_1548673	1530828	CTTCACTG others(591): Show CTTCACTGCGTGCAACCTCCCCAAATACCCCCACTGTGTGCAACCTCCGC AAATCCCCCCACTGTGTGCAACCTCCCCAAATCCCCCCCACTCTGTGCGA CCTCCCCAAATCCCCCCACTATGTGCGACCTCCTCAAATCCCCCCAGTAT GTGCAACCTCCTCAAATCCCTCCACTCTGTGCAACCTCACCCTATCTTTC CCACTGTGTGCAACCCCCCCAAATACCCCCACTATGTGCAACCTCCTCAA ATCCCCCCACTGTGTGCAACCTCCCCAAATCCCCCCACTGTGTGCAACCT CCCCAAAACCCCCCACTGTGTGCAACCTCCCCAAATCCCCCCCACTGTGA GCAACCTCCCCAAATCCCCACACTGTCTGCAACCACCCCAAATCGCCCCC ACTGTGTGCAACCGCCTCATATTCCCCCCACTGTGTGGACCCTTCTCAAA TCCCCCCTAATGTCAGCAACTTCCCTAAATCCCCCAACTGTGTTCAACCT CCCCAAATCCCTCCCACTGTGTGCAGCCTCCCCAAATCCTCCCGACTCTG TGCAACCTCCCAAAATTGCCCCCACTGTGTTCAACCTCCCCAAATCCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(61): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01934.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03654.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18985.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19010.hp1 NA19011.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0015 a0016 a0017 a0018	a0001c0001 a0001c0004 a0002c0002 others(17): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0003c0018 a0004c0005 a0005c0008 a0005c0014 a0006c0009 a0007c0022 a0007c0027 a0009c0012 a0009c0034 a0010c0010 a0012c0023 a0013c0017 a0015c0031 a0016c0029 a0017c0033 a0018c0025	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0013 a0003c0003t0001 a0003c0018t0002 a0004c0005t0001 a0004c0005t0002 a0005c0008t0001 a0005c0014t0001 a0006c0009t0001 a0006c0009t0003 a0006c0009t0006 a0007c0022t0002 a0007c0027t0002 a0009c0012t0002 a0009c0012t0006 a0009c0034t0003 a0010c0010t0002 a0012c0023t0001 a0013c0017t0002 a0015c0031t0001 a0016c0029t0001 a0017c0033t0001 a0018c0025t0002	a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 others(60): Show a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0117 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0044 a0001c0001t0002g0064 a0001c0001t0002g0082 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0091 a0001c0004t0001g0107 a0001c0004t0001g0110 a0001c0004t0001g0114 a0001c0004t0009g0104 a0002c0002t0001g0006 a0002c0002t0003g0053 a0002c0002t0003g0127 a0002c0002t0013g0119 a0003c0003t0001g0010 a0003c0003t0001g0046 a0003c0018t0002g0005 a0004c0005t0001g0019 a0004c0005t0001g0075 a0004c0005t0002g0083 a0005c0008t0001g0093 a0005c0014t0001g0002 a0006c0009t0001g0123 a0006c0009t0003g0050 a0006c0009t0006g0084 a0007c0022t0002g0034 a0007c0027t0002g0098 a0009c0012t0002g0126 a0009c0012t0006g0124 a0009c0012t0006g0125 a0009c0034t0003g0118 a0010c0010t0002g0025 a0010c0010t0002g0068 a0012c0023t0001g0015 a0013c0017t0002g0024 a0015c0031t0001g0105 a0016c0029t0001g0099 a0017c0033t0001g0101 a0018c0025t0002g0045	64	130	0.4923	-598	c.261 others(19): Show c.2619-9765_2619-9168del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
USP40_chr2_233470526_233571782	233567788	TTAGTTAT others(591): Show TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAA CCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATAT AACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTAT ATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTT ATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAG TTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	324	0.0031	-598	c.-17 others(11): Show c.-1722_-1125del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		1007		chr2	TogoVar
ZC3H3_chr8_143432659_143546447	143487834	GACACAGA others(591): Show GACACAGAACAGCACCCGCTCCACGGCCCCATCACCACGAAGCTCACACA CAGAACAGCACCCGCTCCACGACCCCATCACCACGAAGCTCACACACAGA ACAGCACCCGCTACACAGCCCCATCACCACGAAGCTCAGACACAGAACAG CACCCGCTACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGCACC CGCTACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCT ACACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTCCAC GACCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTCCACGACC CCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACAGCCCCAT CACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACC ACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCACGA AGCTCACACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCT CACACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03209.hp1 HG03471.hp2 others(1): Show HG02145.hp1 HG03209.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0069	4	352	0.0114	-598	c.171 others(21): Show c.1716-12847_1716-12250del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZDHHC2_chr8_17151482_17229799	17151610	CCAAGATC others(591): Show CCAAGATCTTGCCACCAAGAACAGTCAACCTAGGATGCCATTGCTGCTCT TAATATCCCTGGACACTTGCCACTACACTGCAGAATTCTGCTGCCCTTGG TCACTCTCTGCTGGCTGTTCAGCTCTCAACTCCACAACGGCCACTTCTAA TAATCTCCAGTTGAACTTCGGACATTGTATCACCCCTTAGAGATCCATAG TATAGCTGTGTCAGTCCACTGGAAGGACATGTCTGCTCACCTTTTGGGTT CATAGACAGTGCCCCTCCCCATTTAGGGGCAAAGAAGGGAAACAGTGTAA GCAAAAATATTATTTCAATGAAAATTTCCTATTTTATTTCCAAAGAGATT GACCTTAGTGCGAATTCTAAAGAAGTGCACGCAGAATCAGAACGATTTAC TATATAGAAAAATGCTTTAAGTCTTTTAAATTTTTTGAATAGGGTTGTCG TTTTTATTAATCGTTAGCCATTAAATTATAATATAAAAACTGTATAATTA TAACATAACTTTTTGTTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCT GGAGTGCATTGGCGTGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0360 a0001c0001t0005g0360	1	390	0.0026	-598	c.-51 others(11): Show c.-5113_-4516del	ZDHHC2	ENSG00000104219.13	transcript	ENST00000262096.13	protein_coding		4871		chr8	TogoVar
ZFHX3_chr16_72777885_73053128	72923055	ATGTGTAT others(591): Show ATGTGTATATTTTTAGGTATATGTGTATCTATGTATATGTTGTGTACATA AATAGAAGCTGGCATCTATCTGTCTACAACAAGAATAGAAGATATGAACA TAGGGCTGGGTGCGTTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGAC CAAGGTGGGAGGATCGATCGCTCGAGCCCAGGAGTTTAACACCAGCCTGG GCAACATGGCGAAAGCCCATCTCTACAAATGATACAAAAAGTTAGCTGGG CGGGGTGGTGCATGCCTATAGTTCCAGCTACTCGGGAGGCAGAGGTGGGA GGATCTGTAGAGCCTAGGAGGCAGAGGCTGCAGTGAGCTGTGATCACACC ACTGCACTCCAGCCTGGGCGACAGAGTGAGACCTGTCTCAGACCAGAAAA AAAAAAAAAAAAAAGACGCTATGAATATATATGCCTTGTATCCTTGATAG AGGCAAACACCTCACATTATTTATAAAATCAAAATTTCAGGTTAATGATT TCCCAGAGACCTAATTTCCATGGCACTGATATAGTTGATGCGTCTCTGAG CCTGTTTTATACATGTCATATACAGACACCACCAGGAGCACCCAGGAAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0002 a0003c0042t0002	a0003c0042t0002g0189 a0003c0042t0002g0189	1	254	0.0039	-598	c.321 others(21): Show c.3216+26816_3216+27413del	ZFHX3	ENSG00000140836.17	transcript	ENST00000268489.10	protein_coding	3/9			chr16	TogoVar
ARHGAP39_chr8_144524179_144690846	144531235	AAGGGCAC others(590): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG06807.hp2 others(1): Show HG02976.hp2 HG03130.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0004g0156 others(1): Show a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0237	4	246	0.0163	-597	c.298 others(17): Show c.2980+473_2981-365del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
BCL11A_chr2_60452194_60558654	60467315	ATGGTGGT others(590): Show ATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGAT GGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGATGGTAC TGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTG ATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGT ACTGGTGGTGATGGTGATGGTGATGGTACTGGTGATGGTGGTGGTGGTAG TGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTG ATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGT ACTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTACTGGTGGTGA TGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTG GTGGTGGAGATGGTGGTGTTGATGGTGATGGTACTGGTGGTGATGGTACT GGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGCTACTGGTGGTGATGG TACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	262	0.0038	-597	c.487 others(16): Show c.487+820_487+1416del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
C8orf82_chr8_144520733_144534111	144531235	AAGGGCAC others(590): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02809.hp2 HG02976.hp2 others(3): Show HG02055.hp1 HG02809.hp2 HG02976.hp2 HG03130.hp1 HG06807.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0021 a0002c0004t0005 a0002c0004t0021	a0002c0004t0005g0012 a0002c0004t0021g0058 a0002c0004t0005g0012 a0002c0004t0021g0058	6	398	0.0151	-597	c.-29 others(11): Show c.-2916_-2320del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2125		chr8	TogoVar
CAMK1D_chr10_12344547_12840545	12775523	AGGTGAGA others(590): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02258.hp2 HG00280.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0045 a0001c0001t0002 a0001c0002t0045	a0001c0001t0002g0126 a0001c0002t0045g0118 a0001c0001t0002g0126 a0001c0002t0045g0118	2	214	0.0094	-597	c.565 others(17): Show c.565+5726_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A2_chr13_110302284_110518209	110481340	TTCTGTCC others(590): Show TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCCTCCATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACTGCTGTGTCCCTCCGTTGCTGGAGACACACAG TTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTG TTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCATTGCTGG AGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACAGTTCTGTCCCTCCATTGCTGGAGACACACTG CTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTC CGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02258.hp2 others(8): Show HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02630.hp2 HG02970.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19010.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0015 a0002c0038 a0002c0064 others(8): Show a0001c0015 a0002c0038 a0002c0064 a0002c0090 a0003c0007 a0003c0010 a0003c0039 a0003c0070 a0003c0071 a0007c0031 a0007c0059	a0001c0015t0001 a0002c0038t0001 a0002c0064t0009 others(8): Show a0001c0015t0001 a0002c0038t0001 a0002c0064t0009 a0002c0090t0008 a0003c0007t0001 a0003c0010t0006 a0003c0039t0004 a0003c0070t0005 a0003c0071t0001 a0007c0031t0009 a0007c0059t0024	a0001c0015t0001g0198 a0002c0038t0001g0212 a0002c0064t0009g0170 others(8): Show a0001c0015t0001g0198 a0002c0038t0001g0212 a0002c0064t0009g0170 a0002c0090t0008g0041 a0003c0007t0001g0031 a0003c0010t0006g0134 a0003c0039t0004g0251 a0003c0070t0005g0226 a0003c0071t0001g0209 a0007c0031t0009g0042 a0007c0059t0024g0252	11	372	0.0296	-597	c.275 others(17): Show c.2758+964_2759-566del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
DCC_chr18_52335197_53540899	53085988	TCTCCTTC others(590): Show TCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTT TCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCT TCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTT CTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTC TTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCT TCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTC TTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTC TTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02280.hp2 HG02717.hp1 others(1): Show HG00642.hp1 HG02280.hp2 HG02717.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 others(1): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0005t0011	a0001c0002t0002g0038 a0001c0002t0006g0003 a0001c0002t0009g0049 others(1): Show a0001c0002t0002g0038 a0001c0002t0006g0003 a0001c0002t0009g0049 a0001c0005t0011g0032	4	114	0.0351	-597	c.126 others(21): Show c.1261+19825_1261+20421del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar

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Search Results (Total: 4625 hits)