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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HECW1_chr7_43107647_43571001	43374532	TGGGAGGC others(247): Show TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGAGGCAG GAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAA AAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(78): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18968.hp1 NA18971.hp1 NA18983.hp1 NA19009.hp1 NA19066.hp1 NA19066.hp2 NA19085.hp1 NA19090.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0014 a0001c0017 a0001c0018 a0001c0025 a0002c0005 a0002c0009 a0003c0008 a0004c0011 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0021 a0001c0002t0023 a0001c0002t0027 a0001c0002t0028 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0004t0032 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0006t0019 a0001c0012t0007 a0001c0014t0001 a0001c0017t0003 a0001c0018t0001 a0001c0025t0031 a0002c0005t0001 a0002c0005t0002 a0002c0005t0008 a0002c0009t0001 a0003c0008t0010 a0004c0011t0005 a0006c0019t0005	a0001c0001t0001g0002 a0001c0001t0001g0062 a0001c0001t0001g0064 others(78): Show a0001c0001t0001g0002 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0088 a0001c0001t0003g0097 a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0057 a0001c0001t0005g0060 a0001c0001t0005g0163 a0001c0001t0005g0166 a0001c0001t0005g0175 a0001c0001t0015g0012 a0001c0001t0016g0041 a0001c0001t0016g0049 a0001c0001t0018g0074 a0001c0001t0022g0067 a0001c0001t0024g0070 a0001c0001t0030g0098 a0001c0001t0035g0025 a0001c0002t0001g0080 a0001c0002t0001g0099 a0001c0002t0001g0122 a0001c0002t0003g0066 a0001c0002t0003g0124 a0001c0002t0003g0151 a0001c0002t0004g0040 a0001c0002t0005g0059 a0001c0002t0007g0127 a0001c0002t0009g0123 a0001c0002t0021g0112 a0001c0002t0023g0134 a0001c0002t0027g0142 a0001c0002t0028g0173 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0120 a0001c0003t0001g0135 a0001c0003t0001g0155 a0001c0003t0001g0165 a0001c0004t0001g0085 a0001c0004t0001g0092 a0001c0004t0001g0108 a0001c0004t0003g0065 a0001c0004t0003g0077 a0001c0004t0009g0168 a0001c0004t0032g0027 a0001c0006t0001g0125 a0001c0006t0002g0050 a0001c0006t0004g0009 a0001c0006t0019g0073 a0001c0012t0007g0079 a0001c0012t0007g0177 a0001c0014t0001g0132 a0001c0017t0003g0107 a0001c0018t0001g0129 a0001c0025t0031g0032 a0002c0005t0001g0110 a0002c0005t0001g0153 a0002c0005t0002g0007 a0002c0005t0008g0083 a0002c0005t0008g0084 a0002c0005t0008g0086 a0002c0009t0001g0137 a0002c0009t0001g0152 a0003c0008t0010g0003 a0004c0011t0005g0181 a0004c0011t0005g0182 a0006c0019t0005g0179	81	182	0.4451	-254	c.555 others(19): Show c.555+13553_555+13806del		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	6/29						chr7	TogoVar
KCNIP4_chr4_20723606_21953772	21714835	TTTTATTT others(247): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02257.hp1 others(3): Show HG01243.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0037 a0001c0001t0002g0074 a0001c0001t0012g0045 others(3): Show a0001c0001t0001g0037 a0001c0001t0002g0074 a0001c0001t0012g0045 a0001c0002t0001g0073 a0001c0002t0005g0062 a0001c0002t0006g0053	6	80	0.0750	-254	c.61+ others(19): Show c.61+233482_61+233735del		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNN3_chr1_154692455_154875281	154755900	AAGGAGGA others(247): Show AAGGAGGAGAAGAAGAAGAGAAGAAGAAGAGGTGGAGGATGGGGAGGGGA GGAGGAGGAGGGGTTGGGGAGGTGGAGGAGGAGGAAGAGCAAGAAGAACA AGAAGCCAAAGGCAAAGAAGAAGAAGACGATGATGAAAAGGAGGAGGAGG AGGAAGAGGAAGAGGAAGAAGAAGGAGGAGGAGGAGGGGGAAAGAAGGAA GAAGGAAGAAGAAGGAAGAGGAAGATGAGGAGGAGGAAGAGGAGGAAGAA GAAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG01515.hp2 others(26): Show HG00639.hp2 HG01099.hp1 HG01515.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03491.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0002c0002 a0002c0010 others(7): Show a0001c0001 a0002c0002 a0002c0010 a0003c0003 a0003c0007 a0004c0005 a0005c0011 a0006c0012 a0006c0013 a0009c0029	a0001c0001t0010 a0001c0001t0025 a0001c0001t0027 others(23): Show a0001c0001t0010 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0001t0063 a0001c0001t0070 a0002c0002t0003 a0002c0002t0011 a0002c0002t0012 a0002c0002t0029 a0002c0010t0112 a0002c0010t0120 a0003c0003t0026 a0003c0003t0099 a0003c0007t0005 a0003c0007t0011 a0003c0007t0116 a0004c0005t0001 a0004c0005t0023 a0005c0011t0001 a0005c0011t0027 a0006c0012t0005 a0006c0013t0017 a0006c0013t0020 a0006c0013t0054 a0009c0029t0026	a0001c0001t0010g0079 a0001c0001t0025g0095 a0001c0001t0027g0097 others(26): Show a0001c0001t0010g0079 a0001c0001t0025g0095 a0001c0001t0027g0097 a0001c0001t0032g0077 a0001c0001t0063g0087 a0001c0001t0070g0093 a0002c0002t0003g0145 a0002c0002t0011g0123 a0002c0002t0012g0135 a0002c0002t0029g0129 a0002c0002t0029g0130 a0002c0010t0112g0230 a0002c0010t0120g0228 a0003c0003t0026g0181 a0003c0003t0099g0179 a0003c0007t0005g0175 a0003c0007t0005g0176 a0003c0007t0005g0177 a0003c0007t0011g0186 a0003c0007t0116g0235 a0004c0005t0001g0053 a0004c0005t0023g0048 a0005c0011t0001g0196 a0005c0011t0027g0204 a0006c0012t0005g0019 a0006c0013t0017g0021 a0006c0013t0020g0020 a0006c0013t0054g0022 a0009c0029t0026g0192	29	238	0.1219	-254	c.144 others(21): Show c.1448+15821_1448+16074del		KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7						chr1	TogoVar
KDM5B_chr1_202719495_202813421	202740108	CCCCCCCC others(247): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGTTGGGGGCTGACCCTCCCGCCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTTCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCCGGCCGGGCGGGGG GCTGA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0328 a0001c0013t0004g0328	1	382	0.0026	-254	c.308 others(17): Show c.3084+312_3084+565del		KDM5B	ENSG00000117139.18	transcript	ENST00000367265.9	protein_coding	20/26						chr1	TogoVar
KLK5_chr19_50938303_50958038	50941226	ATCTCGGC others(247): Show ATCTCGGCTCACTGCAACTTCTGCCTCCCAGGTTCCAGTGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCAACACCACGCCCAGC TAGTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCT GGTCTTGAACTCCTGACCTCAAGTAACCACCTACCTCAGCCTCCCAAAGT GCTGGGGTTATAGGCATGAGCCACTGCGCCCTGCCTGGGGCTGGCCACTC TATCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02723.hp2 NA21309.hp2 HG02615.hp2 HG02723.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0139 a0001c0001t0003g0307 a0001c0001t0004g0047 a0001c0001t0001g0139 a0001c0001t0003g0307 a0001c0001t0004g0047	3	380	0.0079	-254	c.21 others(11): Show c.2151_*2404del		KLK5	ENSG00000167754.13	transcript	ENST00000336334.8	protein_coding					2076		chr19	TogoVar
LDLRAD3_chr11_35939062_36237136	36144853	GGGGGGGT others(247): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTACCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCCGGAAGGAGGTGGGGGGGTCAGCCCCCCGCCCTG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCTCTA CTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(40): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp1 HG02735.hp2 HG02895.hp1 HG03669.hp2 HG03834.hp1 HG04204.hp2 NA18747.hp2 NA18945.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18965.hp2 NA18975.hp1 NA18979.hp2 NA19002.hp1 NA19012.hp2 NA19056.hp1 NA19068.hp2 NA19079.hp2 NA19085.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0005c0010 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0002c0003t0001 a0002c0004t0001 a0002c0004t0007 a0005c0010t0001 a0007c0008t0001	a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0065 others(40): Show a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0222 a0001c0001t0002g0107 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0153 a0001c0001t0007g0053 a0001c0001t0010g0108 a0001c0001t0016g0034 a0001c0001t0019g0098 a0001c0002t0001g0081 a0001c0002t0001g0090 a0001c0002t0001g0102 a0001c0002t0001g0113 a0001c0002t0001g0130 a0001c0002t0001g0160 a0001c0002t0001g0176 a0001c0002t0001g0183 a0001c0002t0002g0026 a0001c0002t0003g0128 a0001c0002t0003g0133 a0001c0002t0017g0182 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0004t0001g0230 a0002c0004t0007g0233 a0005c0010t0001g0041 a0007c0008t0001g0032	43	236	0.1822	-254	c.454 others(19): Show c.454+46420_454+46673del		LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
LMF1_chr16_848634_975984	953291	CCCAAACC others(247): Show CCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCT TCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGG ACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACATATCCAC ACAGA	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	294	0.0034	-254	c.503 others(16): Show c.503+812_503+1065del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953435	ACACGGAC others(247): Show ACACGGACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCA AACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACAT ATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCC CAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTC CTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATGTCCACACAG ACACC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0003 a0004c0029t0003	a0004c0029t0003g0193 a0004c0029t0003g0193	1	294	0.0034	-254	c.503 others(15): Show c.503+668_503+921del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LYPD8_chr1_248734415_248760759	248746929	GCCCGCAC others(247): Show GCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCA GCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCC CCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCA CCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCAC GGCCAGCACCCACCCAGGGCATCGCCTGCACGGCCAGCACCCACCCAGGG CATCC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG03831.hp2 others(3): Show HG00323.hp2 HG00423.hp2 HG03831.hp2 HG06807.hp1 NA18973.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0109 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0134	6	374	0.0160	-254	c.337 others(17): Show c.337+1106_337+1359del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1870339	TACCGTAA others(247): Show TACCGTAACACCTGCCATGCTGAACCCAACATACGCTTGCCATGCTGAAC CCACCATAACACCTGCCACGCTGAACCCAACATACTCCTGCCACGCTGAA CCCACCGTAACACCTGCCACGCTGAACCCAACATATGCCTGCCACGCTGA ACCCAACATACACCTGCCACACTGAACCCAACATAAGCCTGCCACGCTGA ACCGACCATAACACCTGCCACGCTGAACCCAACATACGCCTGCCACGCTG AACCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0104 a0002c0005t0001g0104	1	264	0.0038	-254	c.199 others(21): Show c.1998+27607_1998+27860del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
NALF1_chr13_107158510_107872496	107653068	AACACTCC others(247): Show AACACTCCTGGTATCTTTATGTGTTGCTTTTAGTTTTAGACTACCATGAA CAAAAATGAACATTTTTAAGTATTTGTAAGAACATGACATTCGAAGGAAA AACAATCTATGCTTTATTTTACCACATTAAATTAGATTAAACACATTAAA TTTGTATATTAAGTTGTGTATTTTCATGTTAGTCCAATAACAAACGAATT CTCTCATATTCTGTTTGTTTTATCGTAGGGGGAGAAGGAAATTGGGAGTT ACCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	128	0.0078	-254	c.915 others(21): Show c.915+212360_915+212613del		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
PERM1_chr1_970198_987093	976747	CCAACCCC others(247): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG00741.hp2 others(7): Show HG00323.hp1 HG00735.hp1 HG00741.hp2 HG02074.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 NA18939.hp1 NA18959.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0016 a0003c0003 a0003c0016	a0003c0003t0004 a0003c0003t0020 a0003c0016t0004 a0003c0003t0004 a0003c0003t0020 a0003c0016t0004	a0003c0003t0004g0015 a0003c0003t0004g0023 a0003c0003t0004g0051 others(4): Show a0003c0003t0004g0015 a0003c0003t0004g0023 a0003c0003t0004g0051 a0003c0003t0004g0064 a0003c0003t0004g0068 a0003c0003t0020g0070 a0003c0016t0004g0076	10	408	0.0245	-254	c.215 others(17): Show c.2150-377_2150-124del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PLEKHA7_chr11_16772297_17019414	16907402	CGCCCGGC others(247): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCC GCCCCTACTGGGAAGTAAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGCGGGGAGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCG GGAGGGAGGCGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTAAGGAGCC CCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00609.hp2 others(15): Show HG00099.hp2 HG00280.hp1 HG00609.hp2 HG01069.hp2 HG01081.hp1 HG01175.hp2 HG01346.hp1 HG02080.hp1 HG02523.hp2 HG02615.hp2 HG02809.hp2 HG03239.hp1 HG03834.hp2 NA19056.hp2 NA19088.hp1 NA19091.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0015 a0001c0018 a0001c0040 a0008c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0008t0005 a0001c0015t0006 a0001c0018t0006 a0001c0040t0001 a0008c0038t0002	a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0127 others(15): Show a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0127 a0001c0001t0002g0045 a0001c0001t0002g0063 a0001c0001t0002g0102 a0001c0001t0002g0118 a0001c0001t0002g0124 a0001c0001t0003g0034 a0001c0001t0003g0071 a0001c0003t0001g0190 a0001c0003t0001g0230 a0001c0003t0002g0232 a0001c0008t0005g0113 a0001c0015t0006g0216 a0001c0018t0006g0200 a0001c0040t0001g0167 a0008c0038t0002g0166	18	244	0.0738	-254	c.222 others(19): Show c.222-36474_222-36221del		PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26						chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16907447	TGGCCGCC others(247): Show TGGCCGCCCCTACTGGGAAGTAAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGCCCAGCCAGCCGCCCC GTCCGGGAGGGAGGCGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTAAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02723.hp2 others(1): Show HG01243.hp1 HG02572.hp1 HG02723.hp2 HG02818.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0012c0043 a0001c0001 a0001c0003 a0012c0043	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0012c0043t0003	a0001c0001t0001g0079 a0001c0001t0003g0080 a0001c0003t0003g0172 others(1): Show a0001c0001t0001g0079 a0001c0001t0003g0080 a0001c0003t0003g0172 a0012c0043t0003g0173	4	244	0.0164	-254	c.222 others(19): Show c.222-36519_222-36266del		PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26						chr11	TogoVar
PLEKHN1_chr1_961482_980865	976747	CCAACCCC others(247): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00741.hp2 others(5): Show HG00323.hp2 HG00735.hp1 HG00741.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 NA18939.hp1 NA20805.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0003c0019 a0003c0023 others(2): Show a0003c0003 a0003c0019 a0003c0023 a0005c0014 a0005c0046	a0003c0003t0001 a0003c0003t0004 a0003c0019t0008 others(4): Show a0003c0003t0001 a0003c0003t0004 a0003c0019t0008 a0003c0023t0004 a0003c0023t0037 a0005c0014t0004 a0005c0046t0004	a0003c0003t0001g0008 a0003c0003t0004g0012 a0003c0019t0008g0068 others(4): Show a0003c0003t0001g0008 a0003c0003t0004g0012 a0003c0019t0008g0068 a0003c0023t0004g0004 a0003c0023t0037g0004 a0005c0014t0004g0030 a0005c0046t0004g0118	8	422	0.0190	-254	c.21 others(11): Show c.2173_*2426del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					883		chr1	TogoVar
RALBP1_chr18_9470513_9543114	9484161	GCTATCCT others(247): Show GCTATCCTTATGCCAGGTACCATGTGCTGTTTTGATTACTGTGGCTTTGT AGTACATTTTGAAATTGAGATGTGTGAATTCTTCGACTTTGCTGTTTCCA GTATTTGTTGGCTCTTCAGGGTCCCTTGCAATTCCATATGAAACTGAGGA TCCATTTCTGTAAAAAAGGCCATTGGAATTTTAATAGAGATTGCATTGAA TTTGTAAAACATTTTGGGTAGTATTTCTGTTTTAAAAATATTAAGTCCTC CAATC	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0323 a0006c0008t0001g0323	1	362	0.0028	-254	c.-56 others(17): Show c.-56+8472_-56+8725del		RALBP1	ENSG00000017797.13	transcript	ENST00000383432.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
RBFOX1_chr16_6014024_7718340	7186226	ACATAAAC others(247): Show ACATAAACATATTTATATAAACATAAACATATTTATATAAACATAAACAT AAACATATTTATATAAATATAAACATAAACATATTTATATAAATATAAAC ATAAACATATTTATATAAATATAAACATAAACATATTTATATAAATATAA ACATAAACATATTTATATAAATATAAACATAAACATATTTATATAAATAT AAACATAAACATATTTATATAAATATAAACATAAACATATTTATATAAAT ATAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0021 a0001c0001t0041g0021	1	68	0.0147	-254	c.27+ others(19): Show c.27+134149_27+134402del		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RFX7_chr15_56082280_56248879	56110884	CGGGAGGT others(247): Show CGGGAGGTGAGGGGAGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGGTCA GCCCCCCACCCGGCCAGCCACCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCC CGTCT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	360	0.0028	-254	c.402 others(17): Show c.402-7468_402-7215del		RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9						chr15	TogoVar
RPH3AL_chr17_207389_357807	242320	CCTTCCTC others(247): Show CCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACT ACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGAC TACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGA CTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATT GACTA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG03831.hp2 others(3): Show HG01361.hp1 HG01496.hp1 HG03831.hp2 NA18940.hp2 NA18959.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0004t0004	a0001c0001t0001g0091 a0001c0001t0012g0053 a0001c0001t0014g0023 others(3): Show a0001c0001t0001g0091 a0001c0001t0012g0053 a0001c0001t0014g0023 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0004t0004g0014	6	133	0.0451	-254	c.613 others(17): Show c.613+4537_613+4790del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
SCTR_chr2_119434843_119529483	119444380	TGAATATA others(247): Show TGAATATATATACACATATACGTATGAATATATATACCCATATACGTATG AATATACACATATATATACGTACGTATATATATACACATATATACGTACG TATATATATACACATATATACGTACGTATATATATACACATATATACGTA CGAATATATATACACATATATACGTACGAATATATATACACATATATACG TACGAATATATATACACATATATACGTACGAATATATATACACATATATA CGTAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp2 HG06807.hp2 others(4): Show HG02055.hp2 HG02965.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0110 a0001c0001t0001g0165 a0001c0001t0001g0238 others(4): Show a0001c0001t0001g0110 a0001c0001t0001g0165 a0001c0001t0001g0238 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0004g0042	7	290	0.0241	-254	c.114 others(19): Show c.1140+2125_1140+2378del		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12						chr2	TogoVar
TERT_chr5_1248167_1300068	1273536	GACCGCCA others(247): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCCGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGT GACCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	392	0.0026	-254	c.228 others(19): Show c.2287-1510_2287-1257del		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TMEM163_chr2_134450759_134724000	134608795	GCTGGTGA others(247): Show GCTGGTGAAAAGGACAGACCCCGAGAATTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCTGAGAACTGTACTGGTG AAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTACTGGTGA AAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAA CTGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02451.hp1 others(7): Show HG02055.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0018	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0002g0008 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0003g0024 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0116 a0001c0001t0018g0006	10	222	0.0451	-254	c.323 others(19): Show c.323-56958_323-56705del		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TNK2_chr3_195858364_195913551	195880874	GCCCCCCA others(247): Show GCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACA CCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAACA CCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAA CACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCT AACACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGT AACAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	372	0.0027	-254	c.887 others(16): Show c.887+923_887+1176del		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15						chr3	TogoVar
TNK2_chr3_195858364_195913551	195880885	ATGCCCCT others(247): Show ATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCCAGCA ATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAACACCCGCCCCCAG CGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAACACCACCCGCC AGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTAACACCCCCCC AGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAACACCCCCCC AGCAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00741.hp2 others(44): Show HG00140.hp1 HG00735.hp2 HG00741.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02735.hp1 HG02818.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03688.hp2 HG03704.hp2 HG04199.hp2 HG06807.hp2 NA18940.hp1 NA18949.hp2 NA18951.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18978.hp1 NA18984.hp2 NA18986.hp2 NA18995.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19066.hp1 NA19070.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0021 a0024	a0001c0001 a0001c0003 a0001c0006 others(16): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0001c0012 a0001c0031 a0001c0070 a0002c0004 a0002c0026 a0002c0067 a0002c0068 a0002c0072 a0002c0073 a0002c0074 a0003c0005 a0003c0015 a0003c0030 a0021c0075 a0024c0077	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0006t0001 a0001c0011t0001 a0001c0012t0001 a0001c0012t0011 a0001c0031t0001 a0001c0070t0001 a0002c0004t0001 a0002c0026t0001 a0002c0026t0009 a0002c0067t0001 a0002c0068t0001 a0002c0072t0001 a0002c0073t0001 a0002c0074t0001 a0003c0005t0001 a0003c0015t0001 a0003c0030t0001 a0021c0075t0001 a0024c0077t0001	a0001c0001t0001g0076 a0001c0001t0001g0111 a0001c0001t0001g0112 others(44): Show a0001c0001t0001g0076 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0249 a0001c0001t0001g0317 a0001c0001t0001g0337 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0002g0328 a0001c0003t0001g0276 a0001c0003t0002g0151 a0001c0003t0002g0157 a0001c0003t0005g0199 a0001c0006t0001g0061 a0001c0006t0001g0066 a0001c0006t0001g0069 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0006t0001g0083 a0001c0006t0001g0087 a0001c0006t0001g0092 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0006t0001g0100 a0001c0011t0001g0081 a0001c0012t0001g0067 a0001c0012t0001g0075 a0001c0012t0001g0085 a0001c0012t0001g0088 a0001c0012t0011g0102 a0001c0031t0001g0089 a0001c0031t0001g0090 a0001c0070t0001g0352 a0002c0004t0001g0131 a0002c0026t0001g0074 a0002c0026t0009g0099 a0002c0067t0001g0082 a0002c0068t0001g0063 a0002c0072t0001g0091 a0002c0073t0001g0068 a0002c0074t0001g0073 a0003c0005t0001g0033 a0003c0015t0001g0064 a0003c0015t0001g0080 a0003c0030t0001g0072 a0021c0075t0001g0079 a0024c0077t0001g0086	47	372	0.1263	-254	c.887 others(16): Show c.887+912_887+1165del		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15						chr3	TogoVar
TPO_chr2_1408463_1548673	1530772	CCCCATGG others(247): Show CCCCATGGGGGGCAACGTCCTCAAATCCCCCGACTGTGTGCAACCTCCTG AAATCCCTTCACTGCGTGCAACCTCCCCAAATACCCCCACTGTGTGCAAC CTCCGCAAATCCCCCCACTGTGTGCAACCTCCCCAAATCCCCCCCACTCT GTGCGACCTCCCCAAATCCCCCCACTATGTGCGACCTCCTCAAATCCCCC CAGTATGTGCAACCTCCTCAAATCCCTCCACTCTGTGCAACCTCACCCTA TCTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01167.hp2 others(13): Show HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG02004.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 NA18962.hp2 NA19043.hp1 NA19043.hp2 NA19088.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0002c0002 a0002c0015 others(4): Show a0001c0001 a0002c0002 a0002c0015 a0007c0026 a0008c0011 a0008c0016 a0008c0028	a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 others(5): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 a0002c0015t0003 a0007c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003	a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 others(13): Show a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0006g0027 a0002c0015t0003g0111 a0007c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003	16	130	0.1231	-254	c.261 others(19): Show c.2619-9817_2619-9564del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC5_chr14_20281227_20310951	20310355	TCAGCCCC others(247): Show TCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTG CCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02280.hp1 HG02486.hp2 others(19): Show HG01496.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0007 a0002c0004 others(1): Show a0001c0002 a0001c0007 a0002c0004 a0004c0006	a0001c0002t0011 a0001c0002t0028 a0001c0002t0029 others(5): Show a0001c0002t0011 a0001c0002t0028 a0001c0002t0029 a0001c0002t0044 a0001c0002t0055 a0001c0007t0004 a0002c0004t0004 a0004c0006t0013	a0001c0002t0011g0016 a0001c0002t0011g0207 a0001c0002t0028g0046 others(11): Show a0001c0002t0011g0016 a0001c0002t0011g0207 a0001c0002t0028g0046 a0001c0002t0029g0047 a0001c0002t0044g0095 a0001c0002t0055g0204 a0001c0007t0004g0010 a0002c0004t0004g0182 a0004c0006t0013g0052 a0004c0006t0013g0053 a0004c0006t0013g0208 a0004c0006t0013g0209 a0004c0006t0013g0210 a0004c0006t0013g0214	22	416	0.0529	-254	c.-46 others(11): Show c.-4672_-4419del		TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding					4405		chr14	TogoVar
TUNAR_chr14_95871832_95930571	95927733	CTCTCCCT others(247): Show CTCTCCCTCCCCCTTTCCCTCCGTCCCTCTCTCCCTCTCCCTCTCCCTCC ATCCCTCTCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCTCCCTCC GTCCCTCTCTCCCTCTCCCTCTCCCTCTGTCCCTCTCTCCCTCTCCCTCT CCCTCCGTCCCTCTCTCCCTCTCCCTCCATCCCTCTCCCTCCATCCCTCT CCCTCTCCCTCCATCCCTCTCCTTCTCCCTCCATCCCTCTCTCCCTCTCC CTCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	338	0.0030	-254	c.47 others(11): Show c.4768_*5021del		TUNAR	ENSG00000250366.4	transcript	ENST00000503525.3	protein_coding					2163		chr14	TogoVar
WIPF1_chr2_174554574_174602804	174594590	TAAGGGGT others(247): Show TAAGGGGTTCAAATCTCCAAGCTAAAATCTGCCTAAATCGCTATCACCAC ATTTAGTTCTACCAGAGGATTAAGATGTGCCACTGTTTCTCTCTCTCTCT TTCTCTCTCTCTCTCTCTCACACACACATACACACACAGCATATATGTCA GCACACTTGATATATACTGTATTCATTTTATCATTGAAAGTACAGCTTTA TGATATAAGCAGAAGTGTCACCAAGTTTACCTCTGAAGAAGTGAAAAGAC TTAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00639.hp2 others(95): Show HG00140.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18945.hp1 NA18946.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18973.hp2 NA18985.hp2 NA18992.hp1 NA18998.hp2 NA19043.hp2 NA19065.hp2 NA19070.hp2 NA19075.hp1 NA19079.hp2 NA19081.hp2 NA19086.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0027 a0001c0003t0001 a0001c0003t0004 a0001c0003t0024 a0001c0003t0026 a0001c0006t0002 a0001c0009t0003 a0002c0002t0005	a0001c0001t0001g0061 a0001c0001t0002g0003 a0001c0001t0002g0006 others(82): Show a0001c0001t0001g0061 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0073 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0101 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0224 a0001c0001t0004g0226 a0001c0001t0010g0011 a0001c0001t0013g0029 a0001c0001t0015g0222 a0001c0001t0016g0052 a0001c0001t0023g0076 a0001c0001t0027g0225 a0001c0003t0001g0065 a0001c0003t0001g0067 a0001c0003t0004g0014 a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0070 a0001c0003t0004g0071 a0001c0003t0004g0072 a0001c0003t0004g0074 a0001c0003t0004g0077 a0001c0003t0004g0078 a0001c0003t0004g0083 a0001c0003t0004g0085 a0001c0003t0004g0091 a0001c0003t0004g0092 a0001c0003t0004g0096 a0001c0003t0004g0097 a0001c0003t0004g0111 a0001c0003t0004g0219 a0001c0003t0004g0220 a0001c0003t0004g0221 a0001c0003t0004g0247 a0001c0003t0024g0081 a0001c0003t0026g0062 a0001c0006t0002g0102 a0001c0009t0003g0099 a0002c0002t0005g0218	98	300	0.3267	-254	c.-39 others(17): Show c.-39+2757_-39+3010del		WIPF1	ENSG00000115935.19	transcript	ENST00000679041.1	protein_coding	1/7						chr2	TogoVar
YTHDC2_chr5_113508694_113600284	113586882	TATATAAT others(247): Show TATATAATATATAAATATATATTATGTATTCATATATAATATATAAATAT ATATTATGTATTCATATATAATATATAAATATATATTATGTATTCATATA TAATATATAAATATATATTATGTATTCATATATAATATATAAATATATAT TATGTATTCATATATAATATATAAATATATATTATGTATTCATATATAAT ATATAAATATATATTATGTATTCATATATAATATATAAATATATATTATG TATTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0033 a0003c0003t0002g0033	1	316	0.0032	-254	c.382 others(19): Show c.3825+2409_3825+2662del		YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
ZNF28_chr19_52792408_52826633	52811942	CTCTGCCC others(247): Show CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGACAGCCCCCCGCCCGGCCAG CCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGGTGAGGG GCGCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(87): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00621.hp2 HG00639.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp2 HG04115.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp1 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18975.hp1 NA18981.hp2 NA18991.hp2 NA18999.hp2 NA19010.hp2 NA19062.hp2 NA19082.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0015 a0016	a0001c0001 a0001c0009 a0002c0002 others(10): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0004c0004 a0004c0012 a0004c0014 a0005c0005 a0009c0010 a0009c0011 a0011c0013 a0015c0018 a0016c0017	a0001c0001t0002 a0001c0001t0029 a0001c0001t0038 others(30): Show a0001c0001t0002 a0001c0001t0029 a0001c0001t0038 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051 a0001c0009t0015 a0001c0009t0021 a0001c0009t0040 a0001c0009t0048 a0002c0002t0005 a0003c0003t0005 a0004c0004t0003 a0004c0004t0007 a0004c0004t0010 a0004c0004t0019 a0004c0004t0030 a0004c0004t0045 a0004c0004t0046 a0004c0012t0041 a0004c0012t0049 a0004c0014t0003 a0005c0005t0020 a0005c0005t0043 a0005c0005t0044 a0009c0010t0012 a0009c0010t0016 a0009c0010t0037 a0009c0011t0017 a0011c0013t0031 a0011c0013t0034 a0015c0018t0036 a0016c0017t0032	a0001c0001t0002g0058 a0001c0001t0029g0112 a0001c0001t0038g0324 others(67): Show a0001c0001t0002g0058 a0001c0001t0029g0112 a0001c0001t0038g0324 a0001c0001t0039g0056 a0001c0001t0050g0328 a0001c0001t0051g0365 a0001c0009t0015g0011 a0001c0009t0021g0368 a0001c0009t0021g0369 a0001c0009t0040g0111 a0001c0009t0048g0360 a0002c0002t0005g0329 a0002c0002t0005g0342 a0002c0002t0005g0348 a0002c0002t0005g0354 a0002c0002t0005g0355 a0002c0002t0005g0371 a0003c0003t0005g0027 a0003c0003t0005g0327 a0003c0003t0005g0331 a0003c0003t0005g0332 a0003c0003t0005g0333 a0003c0003t0005g0334 a0003c0003t0005g0340 a0004c0004t0003g0001 a0004c0004t0003g0004 a0004c0004t0003g0005 a0004c0004t0003g0028 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0003g0338 a0004c0004t0003g0339 a0004c0004t0003g0344 a0004c0004t0003g0345 a0004c0004t0003g0346 a0004c0004t0003g0347 a0004c0004t0003g0352 a0004c0004t0003g0356 a0004c0004t0003g0357 a0004c0004t0003g0358 a0004c0004t0003g0359 a0004c0004t0003g0362 a0004c0004t0003g0363 a0004c0004t0007g0059 a0004c0004t0007g0116 a0004c0004t0010g0330 a0004c0004t0010g0353 a0004c0004t0010g0361 a0004c0004t0019g0010 a0004c0004t0030g0101 a0004c0004t0045g0349 a0004c0004t0046g0350 a0004c0012t0041g0325 a0004c0012t0049g0370 a0004c0014t0003g0335 a0004c0014t0003g0351 a0005c0005t0020g0366 a0005c0005t0020g0367 a0005c0005t0043g0341 a0005c0005t0044g0343 a0009c0010t0012g0057 a0009c0010t0012g0254 a0009c0010t0016g0321 a0009c0010t0016g0322 a0009c0010t0037g0320 a0009c0011t0017g0026 a0011c0013t0031g0318 a0011c0013t0034g0055 a0015c0018t0036g0323 a0016c0017t0032g0100	90	422	0.2133	-254	c.16- others(15): Show c.16-4063_16-3810del		ZNF28	ENSG00000198538.11	transcript	ENST00000457749.7	protein_coding	2/3						chr19	TogoVar
ADA2_chr22_17173790_17224435	17188382	CTTGGCGG others(246): Show CTTGGCGGGGATCATCAGAGCTTCCTTGTAGTCATGCAAGGAGTGGCCAG TGTCCTCATGCCCCACCTGCAGGACAGAGAGGGACAGGGAGGTGTCTGCA GGGCGCATGCCTCACTTGCTGATGGCGCGCCCTGGAGCCTGTGCACACCC TTCCTTGTACCCTGCCACCACTGCCGGGACCTTTGTCACACAGCCTTTTA AGAATGACCAGGAGCAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAG CACT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02486.hp1 HG02486.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0045 a0005c0016t0045	a0005c0016t0045g0341 a0005c0016t0045g0341	1	408	0.0025	-253	c.973 others(12): Show c.973-188_1037del	p.Val others(5): Show p.Val325fs	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/10	1163/4355	973/1536	325/511			chr22	TogoVar
ATP11A_chr13_112685038_112892168	112803990	CCCCTCCT others(246): Show CCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTC CTTCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCC CCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTC TGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0171 a0001c0001t0073g0171	1	254	0.0039	-253	c.163 others(15): Show c.163-938_163-686del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
C2CD4C_chr19_400445_414147	404514	GGGACGGG others(246): Show GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGAC GGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGG GTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGG GGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTG TGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA19010.hp2 NA18966.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0062 a0001c0002t0003 a0001c0002t0062	a0001c0002t0003g0002 a0001c0002t0062g0125 a0001c0002t0003g0002 a0001c0002t0062g0125	2	322	0.0062	-253	c.23 others(11): Show c.2329_*2581del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					930		chr19	TogoVar
CSMD1_chr8_2930361_4999914	3796036	TATATATC others(246): Show TATATATCTATCATAGATATAGATATATATCTATCATAGATATAGATATA TATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATC TATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATC ATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATAG ATATAGATATATATCTATCATGTATAGATATAGATATATATCTATCATGT ATAG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0104 a0012c0104	a0012c0104t0071 a0012c0104t0071	a0012c0104t0071g0058 a0012c0104t0071g0058	1	126	0.0079	-253	c.819 others(19): Show c.819-42247_819-41995del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
DACH1_chr13_71432966_71872204	71734163	ATACCCCA others(246): Show ATACCCCATATATATGTATATCCCATATACGTATACCCATATATATGTAT ATCCCATATACGTATACCCCATATATATGTATATCCCATATACGTATACC CCATATATATGTATATCCCATATACGTATACCCCATATATATGTATATCC CATATACGTATACCCCATATATATGTATATCCCATATACGTATACCCCAT ATATATGTATATCCCATATACGTATACCCCATATATATGTGTATCCCATA TACG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	102	0.0098	-253	c.849 others(19): Show c.849-52506_849-52254del		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DLGAP2_chr8_732628_1713476	933693	AAGGGGAG others(246): Show AAGGGGAGGGTGAGGGCAGAGCCTGCTGTGGAGACACCTGGCCGTGGGCA CGAGGGGAGGGTGAGGGCAGAGCCTGCTGTGGAGACACCTGGCCGTGGGC ACGAGGGGAGGGTGAGGGCAGAGCCTGCTGTGGACACCTGGCCGTGGGCA CGAGGGGAGGGTGAGGGCAGAGCCTGCTATGGAGACACCTGGCCGTGGGC ACGAGGGGAGGGTGAGGGCAGAGCCTGCTGTGGAGACACCTGGCCGTGGG CACG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02895.hp2 HG03516.hp2 others(2): Show HG01071.hp2 HG02895.hp2 HG03516.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0007	a0001c0002t0006 a0001c0003t0001 a0001c0003t0013 others(2): Show a0001c0002t0006 a0001c0003t0001 a0001c0003t0013 a0002c0001t0011 a0002c0007t0008	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0013g0007 others(2): Show a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0013g0007 a0002c0001t0011g0001 a0002c0007t0008g0040	5	40	0.1250	-253	c.73+ others(17): Show c.73+25861_73+26113del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF3B_chr7_2349827_2385745	2377695	TGTGTTCT others(246): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGT GTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGA TGCC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0102 a0001c0001t0012g0102	1	384	0.0026	-253	c.215 others(17): Show c.2154+671_2155-691del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377823	CGTGTTCT others(246): Show CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGA GAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGA TGCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG02895.hp1 others(8): Show HG01109.hp2 HG02572.hp1 HG02895.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp1 NA19004.hp2 NA19054.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0001c0015 others(1): Show a0001c0001 a0001c0010 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0010t0001 a0001c0015t0002 others(1): Show a0001c0001t0001 a0001c0010t0001 a0001c0015t0002 a0002c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0162 others(8): Show a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0162 a0001c0010t0001g0043 a0001c0010t0001g0044 a0001c0015t0002g0170 a0002c0002t0001g0279 a0002c0002t0001g0284 a0002c0002t0001g0292 a0002c0002t0001g0303 a0002c0002t0001g0313	11	384	0.0287	-253	c.215 others(17): Show c.2154+776_2155-586del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC3L4_chr14_103089725_103115559	103109253	CCCTCCCT others(246): Show CCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTC CCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACC CTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCT CCCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0324 a0008c0012t0001g0324	1	404	0.0025	-253	c.197 others(17): Show c.1977-594_1977-342del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361372	GCACCACC others(246): Show GCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACC TCCACCACCACCTCCTACCACTACCACCTCCAGCACCACCTCCACCACCA CCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCACC ACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCAC CACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCT CCAC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0034 a0001c0001t0094g0034	1	230	0.0044	-253	c.544 others(19): Show c.544-10817_544-10565del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
HDAC4_chr2_239043168_239406020	239280955	TACACACC others(246): Show TACACACCACTCTACAATGAACACACCACTCTACACACAATGTACACACC ACTCTCAATGTACACACCACTCTCAATGTACATACCACTCTACAATGTAC ACACCACTCTTAATGTACACACGACTCTCAATGTACACACCACTCTACAC ACAATGTACACACCACTCTCAATGTACACACCACTCTACAATGAACACAC CACTCTACACACAATGTACACACCACTCTCAATGTACACACCCCTCTACA ATGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(45): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01123.hp2 HG01255.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp1 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG06807.hp1 NA18906.hp1 NA18977.hp1 NA18998.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0016 a0001c0023 a0001c0027 a0008c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0021 a0001c0001t0031 a0001c0001t0063 a0001c0001t0066 a0001c0002t0001 a0001c0002t0009 a0001c0002t0012 a0001c0002t0020 a0001c0002t0024 a0001c0002t0058 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0004t0004 a0001c0004t0059 a0001c0007t0005 a0001c0007t0021 a0001c0009t0053 a0001c0010t0008 a0001c0010t0041 a0001c0016t0003 a0001c0016t0019 a0001c0023t0001 a0001c0027t0009 a0008c0029t0042	a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0150 others(45): Show a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0209 a0001c0001t0001g0241 a0001c0001t0002g0160 a0001c0001t0002g0196 a0001c0001t0003g0097 a0001c0001t0003g0147 a0001c0001t0005g0161 a0001c0001t0008g0174 a0001c0001t0010g0125 a0001c0001t0015g0238 a0001c0001t0021g0137 a0001c0001t0031g0092 a0001c0001t0063g0149 a0001c0001t0066g0005 a0001c0002t0001g0167 a0001c0002t0001g0172 a0001c0002t0001g0240 a0001c0002t0009g0171 a0001c0002t0009g0173 a0001c0002t0012g0143 a0001c0002t0020g0175 a0001c0002t0024g0145 a0001c0002t0058g0142 a0001c0003t0003g0239 a0001c0003t0004g0042 a0001c0003t0004g0123 a0001c0003t0005g0004 a0001c0003t0007g0229 a0001c0003t0008g0168 a0001c0004t0004g0009 a0001c0004t0004g0013 a0001c0004t0059g0006 a0001c0007t0005g0126 a0001c0007t0021g0024 a0001c0009t0053g0003 a0001c0010t0008g0067 a0001c0010t0041g0066 a0001c0016t0003g0029 a0001c0016t0019g0130 a0001c0023t0001g0047 a0001c0027t0009g0148 a0008c0029t0042g0204	48	242	0.1984	-253	c.23- others(17): Show c.23-44544_23-44292del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
KCNG2_chr18_79792938_79905100	79886955	TGGGGACA others(246): Show TGGGGACACAAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC AGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACAGGGACATGGGGACACGGGACAGGGACATAGGGCCATAGGGAC AGGGACATGGGGGCATGAGAGATGCCTAGGGACACGGACAGGGACACGGG GACAGAGGGACAAGGACACAGGGAGGGACACAGGACAGATGGGGACAGGG ACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02572.hp2 others(5): Show HG02109.hp2 HG02559.hp1 HG02572.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0177 others(5): Show a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0177 a0001c0001t0001g0230 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0300 a0002c0002t0001g0200	8	312	0.0256	-253	c.625 others(19): Show c.625-12079_625-11827del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	857938	CGTGGTGT others(246): Show CGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGA TGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGG TGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0022 a0022	a0022c0042 a0022c0042	a0022c0042t0001 a0022c0042t0001	a0022c0042t0001g0084 a0022c0042t0001g0084	1	294	0.0034	-253	c.153 others(19): Show c.1530-3485_1530-3233del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LRCH3_chr3_197786254_197893436	197827011	ACAGGTAA others(246): Show ACAGGTAAACCATAGTGGAAGCATCAGGTAAACCATGGTGGAAGCATCAG GTAAACCACGGTGGAAGCATCTGGTGAACCATAGTGGAAGCATCAGGTAA ATCATAGTGGAAGCATCAGGTAAACCACAGTGGAAGCATCAGGTAAACCA TAGTGGAAGCATCAGGTAAACCATAGTGGAAGCATCAGGTAGACCATGGT GGAAGCATCAGGTAAACCATGGTGGAAGCATCAGATAAATCATGGTGGAA GCAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0008 a0006c0016t0008	a0006c0016t0008g0026 a0006c0016t0008g0026	1	292	0.0034	-253	c.777 others(14): Show c.777+33_777+285del		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
MLPH_chr2_237482251_237560322	237544191	GTGTGGGG others(246): Show GTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGT AGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCAC AGTGGTGAGTGGGGACAGTGGTGAGTCGGGGGACAGTGGTGAATGGGCAC GGTA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0244 a0001c0022t0001g0244	1	286	0.0035	-253	c.153 others(19): Show c.1539+1533_1539+1785del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MPP7_chr10_28045993_28308064	28143576	CCTATCTT others(246): Show CCTATCTTTGTGGATCAAATGCTTTTCTATTCCATGATAACATAACTTAC AAATTTTCTTCTAATACATATTTTTTCAATTAAAAATATTCTTATGGTTC AACTTTTTACACTTAAATTTTTAATCTATTTGAAGTTCACTCTAGTGGTG ACTTTTCTCATTTTTTCCCAAACTATTTGTTATTCCAAGACCACGTATTA CAATTGTCCCTCAAGCTGCCCATCCCCCGTGCTTCCTTCCACCCATCCCA CACT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG02004.hp2 others(3): Show HG00639.hp2 HG00642.hp2 HG02004.hp2 HG02559.hp2 HG03017.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0180 others(3): Show a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0239 a0001c0001t0009g0139	6	300	0.0200	-253	c.315 others(17): Show c.315+3654_315+3906del		MPP7	ENSG00000150054.19	transcript	ENST00000683449.1	protein_coding	5/16						chr10	TogoVar
NPIPB11_chr16_29376310_29411711	29383416	GCCCCCGC others(246): Show GCCCCCGCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGT GGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAG ATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTG TCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTG AGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAG CGGC	G G	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0120 a0120	a0120c0129 a0120c0129	a0120c0129t0002 a0120c0129t0002	a0120c0129t0002g0329 a0120c0129t0002g0329	1	428	0.0023	-253	c.126 others(9): Show c.1263_1515del	p.Pro others(5): Show p.Pro422fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4262/6369	1263/3486	421/1161			chr16	TogoVar
NTN4_chr12_95652807_95795764	95749747	AAGGGGCA others(246): Show AAGGGGCAAGTACCCCAACCCCTTCTCTCCTTGTCTCTACCCCTTCTCTG CTTTTCTGGGGGAGGGGCAAGTACCCCTCAACTCCTTCTCCTTCACCCTT AGCGGCAAGTCCCGCTTTTCTGGGAGAGGGGCAAGTACCCCTCAACCCCT TCTCCTTCACCCTTAGTGGCAAGTCCCGCTTTTCTGGGGGAGGGGCAAGT ACCCCTCAACCCCTTCTCCTTCACCCTTAGTGGCAAGTCCCGCTTTTCTG GGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG01192.hp2 others(9): Show HG00099.hp2 HG00438.hp2 HG01192.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG03041.hp1 NA18978.hp1 NA19066.hp1 NA19074.hp1 NA19084.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0010 a0001c0001 a0001c0002 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 a0003c0010t0002	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0133 others(9): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0012g0212 a0001c0001t0012g0216 a0001c0002t0001g0220 a0003c0010t0002g0219	12	324	0.0370	-253	c.586 others(19): Show c.586-11856_586-11604del		NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	2/9						chr12	TogoVar
P2RX5_chr17_3668227_3701155	3680651	GGTCCTCC others(246): Show GGTCCTCCACCCTGCAGGCCACCACCCTGCTTCCTCCATCCTGGGTCCTC CACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCGTCCTCCACCCAGC GTCCTCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCA CCCTGCATCCTCCACCCTGCATCCTCCACCCAGCGTCCTCCACCCTGCAT CCTCCACCCTGAGTCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCACC CAGC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03486.hp2 HG02970.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0235 a0002c0002t0007g0345 a0002c0002t0001g0235 a0002c0002t0007g0345	2	362	0.0055	-253	c.106 others(17): Show c.1064+992_1065-868del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11						chr17	TogoVar
PAM_chr5_102750305_103034716	102827650	TTGAAGCT others(246): Show TTGAAGCTCACTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(134): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp1 NA18971.hp1 NA18981.hp2 NA18983.hp1 NA18995.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0002c0004 a0003c0003 a0004c0006 a0004c0007 a0005c0009 a0006c0008 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0005t0002 a0001c0012t0008 a0002c0004t0001 a0003c0003t0001 a0004c0006t0001 a0004c0007t0002 a0005c0009t0002 a0006c0008t0003 a0008c0011t0003	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(134): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0033 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0093 a0001c0001t0003g0114 a0001c0001t0003g0129 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0007g0021 a0001c0001t0009g0117 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0064 a0001c0002t0002g0074 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0111 a0001c0002t0002g0120 a0001c0002t0002g0125 a0001c0002t0002g0130 a0001c0002t0002g0133 a0001c0002t0002g0141 a0001c0002t0002g0143 a0001c0002t0002g0149 a0001c0002t0002g0171 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0004g0134 a0001c0002t0004g0155 a0001c0002t0004g0169 a0001c0005t0002g0002 a0001c0005t0002g0046 a0001c0012t0008g0124 a0002c0004t0001g0158 a0003c0003t0001g0154 a0004c0006t0001g0152 a0004c0007t0002g0038 a0005c0009t0002g0010 a0006c0008t0003g0183 a0008c0011t0003g0174	137	188	0.7287	-253	c.-37 others(21): Show c.-373-38153_-373-37901del		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar

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