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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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TRAPPC9_chr8_139722725_140462744	140156940	CTTTCCAT others(326): Show CTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATT CAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCC TCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTC CATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATTCAGAA GCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCTCCCT TTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATT CAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0015 a0001c0002t0023g0015	1	98	0.0102	-333	c.255 others(21): Show c.2556+64186_2556+64518del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
WARS1_chr14_100328790_100380347	100378660	GAAGAATG others(326): Show GAAGAATGTTCCAGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(187): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18991.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0002c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0139 others(169): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0231 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0002t0001g0005 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0033 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0105 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0002g0002 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0004g0082 a0001c0006t0001g0189 a0001c0007t0001g0048 a0001c0008t0001g0201 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127	190	338	0.5621	-333	c.-37 others(11): Show c.-3784_-3452del	WARS1	ENSG00000140105.18	transcript	ENST00000392882.7	protein_coding		3314		chr14	TogoVar
WDR25_chr14_100371485_100535303	100378660	GAAGAATG others(326): Show GAAGAATGTTCCAGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(118): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG02027.hp2 HG02055.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18945.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0009 others(5): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0005 a0003c0004 a0003c0006 a0005c0007	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(9): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0009t0001 a0002c0002t0001 a0002c0005t0001 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0006t0001 a0005c0007t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(118): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0003t0001g0090 a0001c0003t0001g0098 a0001c0003t0001g0102 a0001c0003t0001g0104 a0001c0003t0001g0106 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0126 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0179 a0001c0003t0001g0205 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0210 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0220 a0001c0003t0002g0129 a0001c0003t0002g0218 a0001c0003t0002g0222 a0001c0003t0002g0223 a0001c0003t0007g0099 a0001c0009t0001g0226 a0002c0002t0001g0203 a0002c0005t0001g0096 a0003c0004t0001g0141 a0003c0004t0001g0144 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0147 a0003c0004t0001g0154 a0003c0004t0001g0157 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0163 a0003c0004t0001g0164 a0003c0004t0001g0227 a0003c0004t0001g0228 a0003c0004t0003g0140 a0003c0004t0003g0142 a0003c0004t0004g0143 a0003c0004t0004g0148 a0003c0006t0001g0149 a0003c0006t0001g0155 a0003c0006t0001g0156 a0003c0006t0001g0158 a0003c0006t0001g0159 a0003c0006t0001g0162 a0005c0007t0001g0007 a0005c0007t0001g0008	121	228	0.5307	-333	c.-16 others(17): Show c.-16+2183_-15-1900del	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
XPNPEP3_chr22_40852148_40937815	40898219	TGACCCAT others(326): Show TGACCCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG01934.hp2 others(29): Show HG00639.hp2 HG01884.hp2 HG01934.hp2 HG02109.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 others(13): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0002t0005 a0001c0002t0046 a0001c0002t0048 a0001c0002t0050	a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 others(29): Show a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0212 a0001c0001t0005g0216 a0001c0001t0005g0241 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0009g0220 a0001c0001t0009g0223 a0001c0001t0011g0224 a0001c0001t0011g0225 a0001c0001t0011g0226 a0001c0001t0011g0227 a0001c0001t0017g0221 a0001c0001t0019g0010 a0001c0001t0019g0011 a0001c0001t0021g0210 a0001c0001t0021g0211 a0001c0001t0022g0009 a0001c0001t0027g0228 a0001c0001t0029g0222 a0001c0001t0045g0034 a0001c0001t0047g0008 a0001c0001t0049g0209 a0001c0002t0005g0215 a0001c0002t0046g0217 a0001c0002t0048g0214 a0001c0002t0050g0213	32	248	0.1290	-333	c.793 others(17): Show c.793-9357_793-9025del	XPNPEP3	ENSG00000196236.13	transcript	ENST00000357137.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
ZBTB7A_chr19_4038303_4071899	4041696	AGTGCTGG others(326): Show AGTGCTGGGATTTCAGGCATGAGCCACCGCGCCTGGCCTTGAAGGGAAAT TGTATGGTATGTGAATTATATTTTTGTATTTTTATTTTTGAGACAGGGTC TCACTCTATCGCCCAGGCTGGAGTGCAGTGGTGTAATCATAGCTCACTGC AGCCTCGACCTCCTGGGCTCAAGCAATCCTTCTGCCTCAGCCTCCAGAGT AGCTGAGACCACAGGCGTGCACCACCACACCTGGCTAATTTTTGTATTTT TTGCAGAGACGTGGTTTCACCTTGTTTTTCTGGCTGGTCTCGAACTCCTG GGCTCAAGCAATCCTCCCTCCTCAGCCTCCCAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0267 a0001c0001t0100g0267	1	276	0.0036	-333	c.57 others(11): Show c.5723_*6055del	ZBTB7A	ENSG00000178951.9	transcript	ENST00000322357.9	protein_coding		1606		chr19	TogoVar
ZNF711_chrX_85238991_85278357	85254313	CAAAAAAT others(326): Show CAAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00673.hp1 others(86): Show HG00099.hp2 HG00280.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18964.hp2 NA18972.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19060.hp1 NA19063.hp1 NA19076.hp1 NA19080.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0013 others(68): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0166 a0001c0001t0005g0176 a0001c0001t0005g0178 a0001c0001t0007g0004 a0001c0001t0008g0024 a0001c0001t0015g0051 a0001c0001t0016g0170 a0001c0001t0019g0046	89	276	0.3225	-333	c.80- others(13): Show c.80-935_80-603del	ZNF711	ENSG00000147180.17	transcript	ENST00000674551.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ACAP3_chr1_1287391_1312930	1288237	TCCCGTGT others(325): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0216 a0003c0004t0001g0216	1	295	0.0034	-332	c.49 others(11): Show c.4995_*5326del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4153		chr1	TogoVar
ACTL9_chr19_8692400_8703795	8695982	AGGGCGGG others(325): Show AGGGCGGGGTGCACATCATGGGGTGCCTGGGAGGGTATCTTTGGGAGAGT CTGTGGAGGAGGGAGTTGGGAGGTGTTGGAACACAGAGGAGGGCCTAGGG TCTAGTGGGGTCGTTATAGGATGCTCATGGGGACCTGAGCATGACATTTG GGAGGCTGGCTCTTTCCTGGGAGGAGCTGGGGGCTGAGGAAGAGGGTCAG GAAGTGTCCTGTGAGAGAGAACATTTGGGAGTATTTCGGGCGGAGACACA GTGCAAGAAAGTGGTCTTAGAGCAACAGGGGTCCACCCTGGGGTTTCGGG GGTGGATCTCAGAATGATGTGTTTTGGGAAGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	356	0.0028	-332	c.11 others(11): Show c.1137_*1468del	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		1417		chr19	TogoVar
ADAMTS2_chr5_179105853_179350461	179313349	GGGACGCA others(325): Show GGGACGCACACGCATTCACACTCATGCACACACACACACCGAGACAGAGG AGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACACGCATTCA CACTCATGCACACACTCACACCGAGACAGAGGAGGGCCTGGCCAGAGCAG GGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCATGCACACACACA CATCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGA CGCACAAGCATTCACACTCATGCACACACACACTCACACCGAGACAGAGG AGGGCCTGGCCGGAGCAGGGGTGTCAGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0008 a0002c0030t0008	a0002c0030t0008g0121 a0002c0030t0008g0121	1	276	0.0036	-332	c.534 others(19): Show c.534+30086_534+30417del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
AFF1_chr4_86930011_87146039	87110985	CTACTTAA others(325): Show CTACTTAAACTTTATTTTTTTTTTTTTATTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTAT TTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(8): Show a0001 a0002 a0005 a0007 a0009 a0010 a0011 a0015 a0016 a0017 a0018	a0001c0001 a0001c0003 a0001c0006 others(15): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0016 a0001c0028 a0002c0008 a0005c0032 a0007c0029 a0009c0024 a0010c0015 a0011c0018 a0015c0022 a0016c0023 a0017c0026 a0018c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0003t0020 a0001c0003t0027 a0001c0003t0028 a0001c0003t0066 a0001c0003t0067 a0001c0006t0008 a0001c0007t0008 a0001c0010t0006 a0001c0010t0054 a0001c0011t0008 a0001c0016t0069 a0001c0028t0002 a0002c0008t0021 a0002c0008t0042 a0005c0032t0011 a0007c0029t0038 a0009c0024t0001 a0010c0015t0055 a0011c0018t0037 a0015c0022t0006 a0016c0023t0015 a0017c0026t0036 a0018c0013t0070	a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0042 others(155): Show a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0221 a0001c0001t0001g0292 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0089 a0001c0001t0002g0160 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0226 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0002g0263 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0006g0073 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0078 a0001c0001t0006g0086 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0008g0112 a0001c0001t0008g0115 a0001c0001t0011g0094 a0001c0001t0011g0240 a0001c0001t0011g0265 a0001c0001t0011g0266 a0001c0001t0011g0267 a0001c0001t0012g0056 a0001c0001t0012g0127 a0001c0001t0012g0128 a0001c0001t0012g0135 a0001c0001t0014g0126 a0001c0001t0014g0136 a0001c0001t0014g0137 a0001c0001t0015g0114 a0001c0001t0015g0259 a0001c0001t0016g0098 a0001c0001t0016g0099 a0001c0001t0016g0100 a0001c0001t0017g0095 a0001c0001t0017g0096 a0001c0001t0017g0101 a0001c0001t0018g0023 a0001c0001t0018g0060 a0001c0001t0019g0247 a0001c0001t0019g0262 a0001c0001t0024g0080 a0001c0001t0024g0085 a0001c0001t0028g0257 a0001c0001t0031g0129 a0001c0001t0031g0131 a0001c0001t0032g0092 a0001c0001t0035g0264 a0001c0001t0039g0026 a0001c0001t0040g0055 a0001c0001t0045g0093 a0001c0001t0047g0148 a0001c0001t0048g0134 a0001c0001t0050g0241 a0001c0001t0057g0102 a0001c0001t0058g0082 a0001c0001t0059g0130 a0001c0003t0020g0178 a0001c0003t0020g0183 a0001c0003t0027g0186 a0001c0003t0027g0188 a0001c0003t0028g0286 a0001c0003t0066g0207 a0001c0003t0067g0187 a0001c0006t0008g0184 a0001c0007t0008g0210 a0001c0007t0008g0211 a0001c0007t0008g0237 a0001c0010t0006g0083 a0001c0010t0054g0084 a0001c0011t0008g0110 a0001c0011t0008g0261 a0001c0016t0069g0088 a0001c0028t0002g0038 a0002c0008t0021g0014 a0002c0008t0021g0016 a0002c0008t0042g0015 a0005c0032t0011g0103 a0007c0029t0038g0001 a0009c0024t0001g0150 a0010c0015t0055g0012 a0011c0018t0037g0039 a0015c0022t0006g0087 a0016c0023t0015g0113 a0017c0026t0036g0260 a0018c0013t0070g0010	158	294	0.5374	-332	c.153 others(19): Show c.1533+2689_1533+3020del	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARMC7_chr17_75104969_75135272	75113180	CGCCCGGC others(325): Show CGCCCGGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTG GCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCC TCCCAAAGTGCTGGGGTTACAGTCGTGAGCCACCACACCTGGCCCAACTA ACACATTTTTAAAAATACTTTTTATTTATTTATTTTTTTTTTTGAGATGG AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGATTACAGGCGCCCCCCCACCAG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	402	0.0025	-332	c.235 others(17): Show c.235+2590_235+2921del	ARMC7	ENSG00000125449.7	transcript	ENST00000245543.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
ASAP1_chr8_130047104_130448674	130049826	TGGGGGCA others(325): Show TGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGG GCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGG GAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATG GAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGGGAACACATGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0258 a0002c0002t0003g0258	1	308	0.0033	-332	c.45 others(11): Show c.4573_*4904del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2277		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9406007	CAGTCTTC others(325): Show CAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGT GTGTTTGTCACTGAGTGGACCTCTGTGACATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0064 a0001c0003t0006g0064	1	210	0.0048	-332	c.26 others(11): Show c.2681_*3012del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		330		chr2	TogoVar
BMS1_chr10_42777795_42839937	42778752	TAAGACTG others(325): Show TAAGACTGCTGATGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGC AGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(218): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18997.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(15): Show a0001 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0017 a0020 a0021 a0023 a0024 a0027	a0001c0004 a0001c0005 a0001c0008 others(24): Show a0001c0004 a0001c0005 a0001c0008 a0001c0013 a0001c0026 a0001c0030 a0003c0002 a0003c0025 a0003c0027 a0003c0031 a0004c0006 a0004c0010 a0006c0009 a0007c0012 a0008c0014 a0009c0015 a0010c0016 a0011c0011 a0013c0018 a0014c0019 a0016c0032 a0017c0021 a0020c0029 a0021c0022 a0023c0024 a0024c0023 a0027c0020	a0001c0004t0003 a0001c0004t0011 a0001c0004t0018 others(38): Show a0001c0004t0003 a0001c0004t0011 a0001c0004t0018 a0001c0004t0028 a0001c0004t0029 a0001c0004t0033 a0001c0005t0004 a0001c0005t0025 a0001c0005t0026 a0001c0008t0007 a0001c0008t0008 a0001c0008t0015 a0001c0008t0019 a0001c0013t0008 a0001c0026t0013 a0001c0030t0032 a0003c0002t0002 a0003c0002t0012 a0003c0002t0027 a0003c0002t0030 a0003c0025t0002 a0003c0027t0002 a0003c0031t0002 a0004c0006t0005 a0004c0006t0031 a0004c0010t0005 a0006c0009t0002 a0007c0012t0014 a0008c0014t0011 a0009c0015t0003 a0010c0016t0013 a0011c0011t0002 a0013c0018t0004 a0014c0019t0003 a0016c0032t0001 a0017c0021t0005 a0020c0029t0005 a0021c0022t0002 a0023c0024t0005 a0024c0023t0005 a0027c0020t0008	a0001c0004t0003g0006 a0001c0004t0003g0014 a0001c0004t0003g0049 others(172): Show a0001c0004t0003g0006 a0001c0004t0003g0014 a0001c0004t0003g0049 a0001c0004t0003g0052 a0001c0004t0003g0053 a0001c0004t0003g0054 a0001c0004t0003g0055 a0001c0004t0003g0056 a0001c0004t0003g0057 a0001c0004t0003g0058 a0001c0004t0003g0059 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0062 a0001c0004t0003g0063 a0001c0004t0003g0064 a0001c0004t0003g0065 a0001c0004t0003g0066 a0001c0004t0003g0067 a0001c0004t0003g0068 a0001c0004t0003g0069 a0001c0004t0003g0070 a0001c0004t0003g0071 a0001c0004t0003g0072 a0001c0004t0003g0073 a0001c0004t0003g0074 a0001c0004t0003g0075 a0001c0004t0003g0076 a0001c0004t0003g0151 a0001c0004t0003g0152 a0001c0004t0003g0153 a0001c0004t0003g0154 a0001c0004t0003g0155 a0001c0004t0003g0156 a0001c0004t0003g0157 a0001c0004t0003g0158 a0001c0004t0003g0159 a0001c0004t0011g0047 a0001c0004t0018g0043 a0001c0004t0018g0044 a0001c0004t0028g0048 a0001c0004t0029g0077 a0001c0004t0033g0148 a0001c0005t0004g0010 a0001c0005t0004g0017 a0001c0005t0004g0018 a0001c0005t0004g0019 a0001c0005t0004g0118 a0001c0005t0004g0119 a0001c0005t0004g0120 a0001c0005t0004g0121 a0001c0005t0004g0122 a0001c0005t0004g0123 a0001c0005t0004g0125 a0001c0005t0004g0126 a0001c0005t0004g0127 a0001c0005t0004g0128 a0001c0005t0004g0129 a0001c0005t0004g0131 a0001c0005t0004g0132 a0001c0005t0004g0133 a0001c0005t0004g0134 a0001c0005t0004g0135 a0001c0005t0004g0136 a0001c0005t0004g0137 a0001c0005t0004g0139 a0001c0005t0004g0140 a0001c0005t0004g0141 a0001c0005t0004g0142 a0001c0005t0004g0143 a0001c0005t0004g0145 a0001c0005t0025g0138 a0001c0005t0026g0130 a0001c0008t0007g0022 a0001c0008t0007g0161 a0001c0008t0007g0162 a0001c0008t0007g0163 a0001c0008t0007g0165 a0001c0008t0008g0020 a0001c0008t0015g0166 a0001c0008t0015g0167 a0001c0008t0019g0164 a0001c0013t0008g0021 a0001c0026t0013g0280 a0001c0030t0032g0042 a0003c0002t0002g0001 a0003c0002t0002g0008 a0003c0002t0002g0015 a0003c0002t0002g0016 a0003c0002t0002g0078 a0003c0002t0002g0079 a0003c0002t0002g0080 a0003c0002t0002g0081 a0003c0002t0002g0082 a0003c0002t0002g0084 a0003c0002t0002g0085 a0003c0002t0002g0086 a0003c0002t0002g0087 a0003c0002t0002g0088 a0003c0002t0002g0089 a0003c0002t0002g0090 a0003c0002t0002g0091 a0003c0002t0002g0095 a0003c0002t0002g0096 a0003c0002t0002g0097 a0003c0002t0002g0098 a0003c0002t0002g0099 a0003c0002t0002g0101 a0003c0002t0002g0102 a0003c0002t0002g0104 a0003c0002t0002g0105 a0003c0002t0002g0106 a0003c0002t0002g0108 a0003c0002t0002g0109 a0003c0002t0002g0110 a0003c0002t0002g0111 a0003c0002t0002g0112 a0003c0002t0002g0115 a0003c0002t0002g0116 a0003c0002t0002g0146 a0003c0002t0002g0149 a0003c0002t0002g0150 a0003c0002t0012g0001 a0003c0002t0027g0103 a0003c0002t0030g0107 a0003c0025t0002g0147 a0003c0027t0002g0100 a0003c0031t0002g0117 a0004c0006t0005g0003 a0004c0006t0005g0023 a0004c0006t0005g0168 a0004c0006t0005g0169 a0004c0006t0005g0170 a0004c0006t0005g0171 a0004c0006t0005g0172 a0004c0006t0005g0174 a0004c0006t0005g0175 a0004c0006t0005g0177 a0004c0006t0005g0178 a0004c0006t0005g0180 a0004c0006t0005g0181 a0004c0006t0005g0182 a0004c0006t0005g0183 a0004c0006t0005g0184 a0004c0006t0005g0186 a0004c0006t0005g0187 a0004c0006t0005g0188 a0004c0006t0005g0189 a0004c0006t0005g0190 a0004c0006t0031g0176 a0004c0010t0005g0003 a0004c0010t0005g0173 a0006c0009t0002g0083 a0006c0009t0002g0092 a0006c0009t0002g0094 a0007c0012t0014g0281 a0007c0012t0014g0282 a0008c0014t0011g0039 a0008c0014t0011g0040 a0009c0015t0003g0050 a0009c0015t0003g0051 a0010c0016t0013g0045 a0010c0016t0013g0046 a0011c0011t0002g0113 a0011c0011t0002g0114 a0013c0018t0004g0018 a0013c0018t0004g0144 a0014c0019t0003g0006 a0016c0032t0001g0124 a0017c0021t0005g0185 a0020c0029t0005g0003 a0021c0022t0002g0093 a0023c0024t0005g0179 a0024c0023t0005g0003 a0027c0020t0008g0160	221	388	0.5696	-332	c.-41 others(11): Show c.-4111_-3780del	BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding		4042		chr10	TogoVar
C19orf12_chr19_29693937_29720261	29719400	ATAAATAT others(325): Show ATAAATATATATATAAATTATATATATATATAATATATATATTTATATAT ATAATATACATATTTATATATATATTATATATATTTATATATATATTATA TTTATATATATTTATATATATTATATATATATTATATATATAATATATAA ATATATTTATATAATATAAATATATATATTTATATAATATAAATATATAT ATTTATATATATATAAAATATATATAATATATAAGTTTGGACAAAGATAT AGAATTATATAATATATAAGTTTGGACAAAGATATAGAATTATATAATAT ATAATATAATATATCAGTATATATAATTGTACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	418	0.0024	-332	c.-46 others(11): Show c.-4618_-4287del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4140		chr19	TogoVar
C7orf50_chr7_992006_1143247	1128641	CGTCACCC others(325): Show CGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02145.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0314 a0001c0001t0012g0321 a0001c0001t0005g0314 a0001c0001t0012g0321	2	326	0.0061	-332	c.-1- others(15): Show c.-1-1587_-1-1256del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128715	GATCTCGG others(325): Show GATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCT CATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATC CCACCGTCACCCGGGCTGGAGTGCAGTGGCGCC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18963.hp2 NA18975.hp1 others(2): Show HG00642.hp2 NA18963.hp2 NA18975.hp1 NA19000.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 a0001c0001t0001 a0001c0001t0002 a0001c0001t0030	a0001c0001t0001g0066 a0001c0001t0002g0215 a0001c0001t0002g0216 others(2): Show a0001c0001t0001g0066 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0286 a0001c0001t0030g0326	5	326	0.0153	-332	c.-1- others(15): Show c.-1-1661_-1-1330del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CIB4_chr2_26576205_26646366	26599889	ATGGTGAA others(325): Show ATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGT GGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCG TTTGAACCCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACGCCACTGCA CTCCAGCCTGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAG ATATGATTAATGTTTATTGACTGGGCGCAGTGGCTGCTAGGCATGGTGGC TCACTCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGCAGATCACCT GAGGTCAGGAGTTCAAGACCAGACTGGTCAATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01069.hp2 others(25): Show HG00639.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG02615.hp1 HG02622.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03927.hp2 HG06807.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0003c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0064 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0133 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0002g0162 a0001c0004t0001g0320 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0003g0075 a0002c0002t0007g0030 a0003c0007t0001g0058	28	344	0.0814	-332	c.187 others(17): Show c.187-4904_187-4573del	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CNTNAP2_chr7_146111801_148425998	148365850	ATGCATGT others(325): Show ATGCATGTATACATGTATGTGTATGCATGTATACATGTATGTGTATGCAT GTATACATGCGTGTATGCATGTATACATGCGTGTATGCATGTATACATGC GTGTATGCATGTATACATGTGTGTATGCATGTATACATGTGTGTATGCAT GTATGCATGTGTGTATGCATGTATGCATGTGTGTGTATGCATGTATGCAT GTGTGTGTATGCATGTATGCATGTATGTGTGTGCATGTATACATGTATGT GTATGCATGTATGCATGTATGTGTATGCATGTATGCATGTATGTGTATGC ATGTATGCATGTATGTGTGTGCATGTATACATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02451.hp2 HG00735.hp2 HG01891.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0002 a0001c0001t0006 a0001c0019t0006 a0001c0001t0002 a0001c0001t0006 a0001c0019t0006	a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0019t0006g0015 a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0019t0006g0015	3	40	0.0750	-332	c.347 others(21): Show c.3476-17797_3476-17466del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPH7_chr9_137549444_137583925	137567664	ACTCTGTC others(325): Show ACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0157 a0001c0001t0001g0060 a0001c0001t0001g0157	2	340	0.0059	-332	c.641 others(17): Show c.641-2842_641-2511del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERICH1_chr8_659200_736224	676135	CCCCCTCG others(325): Show CCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGAC AGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCT CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGG	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0245 a0007c0011t0002g0245	1	378	0.0027	-332	c.305 others(17): Show c.305-2420_305-2089del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC4_chr7_133248078_134070761	133422918	TAATAGAA others(325): Show TAATAGAATTAATGGAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGC TGAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCCAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(83): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19090.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0014 a0001c0003t0018 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0005t0007 a0001c0005t0011 a0001c0005t0012 a0001c0005t0013 a0001c0006t0010 a0001c0008t0015	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0031 others(83): Show a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0002g0003 a0001c0001t0002g0050 a0001c0001t0002g0100 a0001c0001t0003g0004 a0001c0001t0003g0032 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0095 a0001c0001t0005g0034 a0001c0001t0005g0040 a0001c0001t0006g0059 a0001c0001t0009g0001 a0001c0001t0009g0046 a0001c0001t0017g0094 a0001c0001t0019g0085 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0047 a0001c0002t0001g0053 a0001c0002t0001g0063 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0002g0071 a0001c0002t0002g0079 a0001c0002t0003g0013 a0001c0002t0003g0056 a0001c0002t0003g0090 a0001c0002t0006g0065 a0001c0002t0006g0096 a0001c0002t0016g0054 a0001c0003t0001g0020 a0001c0003t0001g0048 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0060 a0001c0003t0004g0093 a0001c0003t0004g0097 a0001c0003t0014g0049 a0001c0003t0018g0058 a0001c0004t0001g0009 a0001c0004t0001g0016 a0001c0004t0001g0041 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0067 a0001c0004t0001g0072 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0002g0029 a0001c0004t0002g0030 a0001c0004t0004g0037 a0001c0004t0004g0044 a0001c0004t0008g0028 a0001c0005t0007g0025 a0001c0005t0007g0069 a0001c0005t0011g0043 a0001c0005t0012g0024 a0001c0005t0013g0045 a0001c0006t0010g0035 a0001c0006t0010g0084 a0001c0008t0015g0078	86	102	0.8431	-332	c.118 others(21): Show c.1182+47935_1182+48266del	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR12_chr13_26750200_26765786	26758342	GTCATATT others(325): Show GTCATATTCTGTTACATACATGCAGCATTAAAAAATCTACCATCATGTAA AAAAAAAAAATAGTCTGGAAAAAGTAAGTCTTTCTCAATTTTCCTCAATC ACTCAAATTTATTTTAAAGTCCAGGTAAAAACTCTGAAACTCATTTACTT CTAATAACATCATGGGCGTATCATATCCCTTCCTTTCCTACCCCCAGTCA GCCCTCCAAACAAAGTATAAAAGGAAACCCTTGCCCCCAAGCAAAACAAA ATAATGTTGAGTGGAGAGCTCAACAATTTTTTTTAATGGTGAAAACACTG GTAACATTATTTTCACTTCAATCACTTAACTCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0035 a0001c0001t0027g0035	1	382	0.0026	-332	c.14 others(9): Show c.149_*480del	GPR12	ENSG00000132975.8	transcript	ENST00000405846.5	protein_coding	2/2	149		chr13	TogoVar
GTSE1_chr22_46291870_46335810	46294251	ATCCCAGC others(325): Show ATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAG GCAGTGATTGCAGTGAGCCAAGATCGTGCCATTGCACTGCAGTCTGGGCA ACAGAGCGAGACTCCCATCTCAAGGGAAAAAAAAAAAAAAGTAGGTGGGG CATCTAGTCAAGAAAATGGGAGGTCGGGCGCAGTGGCTCACGTCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACGAGGTCAGGAGATCA AGACCATCCTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAA AAATTAGCCGGGCATGGTGGTGGGCGCCTGTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01433.hp2 HG02258.hp1 others(28): Show HG00639.hp2 HG01433.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0008 a0011 a0012 a0016	a0001c0011 a0002c0002 a0002c0026 others(6): Show a0001c0011 a0002c0002 a0002c0026 a0002c0028 a0005c0007 a0008c0010 a0011c0016 a0012c0027 a0016c0021	a0001c0011t0001 a0002c0002t0001 a0002c0026t0001 others(6): Show a0001c0011t0001 a0002c0002t0001 a0002c0026t0001 a0002c0028t0001 a0005c0007t0001 a0008c0010t0001 a0011c0016t0001 a0012c0027t0001 a0016c0021t0001	a0001c0011t0001g0005 a0001c0011t0001g0029 a0002c0002t0001g0004 others(22): Show a0001c0011t0001g0005 a0001c0011t0001g0029 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0022 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0026t0001g0033 a0002c0028t0001g0036 a0005c0007t0001g0021 a0005c0007t0001g0023 a0005c0007t0001g0024 a0005c0007t0001g0025 a0005c0007t0001g0026 a0005c0007t0001g0027 a0008c0010t0001g0037 a0011c0016t0001g0020 a0012c0027t0001g0028 a0016c0021t0001g0005	31	200	0.1550	-332	c.-27 others(11): Show c.-2701_-2370del	GTSE1	ENSG00000075218.19	transcript	ENST00000454366.2	protein_coding		2618		chr22	TogoVar
HSD17B14_chr19_48808018_48841491	48834421	TTGGACTC others(325): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18979.hp1 NA18948.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0229 a0001c0001t0001g0230	2	394	0.0051	-332	c.128 others(14): Show c.128-395_128-64del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834455	GGCCTGGA others(325): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGG TCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA GGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02572.hp1 others(3): Show HG02055.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02896.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 others(3): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0288 a0002c0002t0002g0025	6	394	0.0152	-332	c.128 others(14): Show c.128-429_128-98del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406007	CAGTCTTC others(325): Show CAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGT GTGTTTGTCACTGAGTGGACCTCTGTGACATCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0072 a0001c0001t0100g0072	1	276	0.0036	-332	c.49 others(9): Show c.495_*826del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	495		chr2	TogoVar
ITPR2_chr12_26330352_26838194	26358087	TAAAGAAT others(325): Show TAAAGAATAAAGTCGTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGT CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(135): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA18980.hp2 NA19056.hp1 NA19056.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(65): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0034 a0001c0035 a0001c0037 a0001c0040 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0001c0048 a0001c0049 a0001c0051 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0064 a0001c0065 a0002c0009 a0002c0010 a0002c0017 a0002c0023 a0002c0052 a0003c0032 a0003c0033 a0003c0038 a0003c0041 a0003c0047 a0004c0014 a0005c0036 a0006c0053 a0007c0050 a0008c0039 a0009c0063 a0010c0066 a0011c0067 a0012c0068	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(119): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0035 a0001c0001t0052 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0017 a0001c0002t0029 a0001c0002t0036 a0001c0002t0040 a0001c0002t0046 a0001c0003t0001 a0001c0003t0014 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0004t0010 a0001c0004t0011 a0001c0004t0048 a0001c0005t0002 a0001c0005t0005 a0001c0005t0015 a0001c0005t0031 a0001c0006t0001 a0001c0006t0003 a0001c0006t0026 a0001c0006t0030 a0001c0007t0001 a0001c0007t0002 a0001c0007t0005 a0001c0007t0021 a0001c0008t0002 a0001c0008t0037 a0001c0011t0001 a0001c0011t0002 a0001c0011t0008 a0001c0012t0005 a0001c0012t0006 a0001c0012t0039 a0001c0013t0002 a0001c0013t0022 a0001c0015t0004 a0001c0015t0044 a0001c0016t0003 a0001c0016t0042 a0001c0018t0006 a0001c0018t0047 a0001c0019t0005 a0001c0019t0011 a0001c0020t0001 a0001c0020t0032 a0001c0021t0002 a0001c0021t0006 a0001c0022t0002 a0001c0022t0003 a0001c0024t0010 a0001c0024t0021 a0001c0025t0024 a0001c0025t0051 a0001c0026t0020 a0001c0026t0053 a0001c0027t0055 a0001c0027t0056 a0001c0028t0001 a0001c0028t0010 a0001c0029t0011 a0001c0029t0049 a0001c0030t0004 a0001c0031t0009 a0001c0034t0004 a0001c0035t0027 a0001c0037t0009 a0001c0040t0005 a0001c0042t0025 a0001c0043t0054 a0001c0044t0001 a0001c0045t0001 a0001c0046t0002 a0001c0048t0012 a0001c0049t0028 a0001c0051t0002 a0001c0054t0023 a0001c0055t0008 a0001c0056t0001 a0001c0057t0002 a0001c0058t0050 a0001c0059t0002 a0001c0060t0002 a0001c0061t0045 a0001c0062t0020 a0001c0064t0008 a0001c0065t0024 a0002c0009t0001 a0002c0009t0041 a0002c0010t0007 a0002c0010t0012 a0002c0010t0016 a0002c0017t0018 a0002c0023t0019 a0002c0052t0001 a0003c0032t0009 a0003c0033t0034 a0003c0038t0009 a0003c0041t0003 a0003c0047t0004 a0004c0014t0013 a0005c0036t0015 a0006c0053t0038 a0007c0050t0003 a0008c0039t0001 a0009c0063t0001 a0010c0066t0001 a0011c0067t0003 a0012c0068t0004	a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0040 others(135): Show a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0064 a0001c0001t0002g0095 a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0096 a0001c0001t0007g0046 a0001c0001t0010g0127 a0001c0001t0017g0102 a0001c0001t0035g0053 a0001c0001t0052g0134 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0006g0015 a0001c0002t0007g0014 a0001c0002t0008g0100 a0001c0002t0017g0070 a0001c0002t0029g0072 a0001c0002t0036g0011 a0001c0002t0040g0047 a0001c0002t0046g0123 a0001c0003t0001g0037 a0001c0003t0001g0061 a0001c0003t0014g0038 a0001c0003t0014g0099 a0001c0003t0023g0135 a0001c0003t0033g0081 a0001c0004t0001g0018 a0001c0004t0003g0093 a0001c0004t0006g0058 a0001c0004t0010g0118 a0001c0004t0011g0128 a0001c0004t0048g0115 a0001c0005t0002g0039 a0001c0005t0005g0086 a0001c0005t0015g0051 a0001c0005t0031g0104 a0001c0006t0001g0060 a0001c0006t0003g0048 a0001c0006t0026g0002 a0001c0006t0030g0030 a0001c0007t0001g0057 a0001c0007t0002g0066 a0001c0007t0005g0041 a0001c0007t0021g0117 a0001c0008t0002g0097 a0001c0008t0037g0031 a0001c0011t0001g0008 a0001c0011t0002g0035 a0001c0011t0008g0044 a0001c0012t0005g0023 a0001c0012t0006g0080 a0001c0012t0039g0079 a0001c0013t0002g0020 a0001c0013t0022g0120 a0001c0013t0022g0129 a0001c0015t0004g0006 a0001c0015t0044g0106 a0001c0016t0003g0032 a0001c0016t0042g0107 a0001c0018t0006g0077 a0001c0018t0047g0112 a0001c0019t0005g0042 a0001c0019t0011g0119 a0001c0020t0001g0085 a0001c0020t0032g0062 a0001c0021t0002g0043 a0001c0021t0006g0033 a0001c0022t0002g0004 a0001c0022t0003g0082 a0001c0024t0010g0124 a0001c0024t0021g0122 a0001c0025t0024g0139 a0001c0025t0051g0133 a0001c0026t0020g0113 a0001c0026t0053g0142 a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0028t0001g0010 a0001c0028t0010g0125 a0001c0029t0011g0130 a0001c0029t0049g0121 a0001c0030t0004g0009 a0001c0031t0009g0003 a0001c0034t0004g0050 a0001c0035t0027g0026 a0001c0037t0009g0052 a0001c0040t0005g0019 a0001c0042t0025g0001 a0001c0043t0054g0140 a0001c0044t0001g0067 a0001c0045t0001g0098 a0001c0046t0002g0063 a0001c0048t0012g0084 a0001c0049t0028g0103 a0001c0051t0002g0005 a0001c0054t0023g0136 a0001c0055t0008g0059 a0001c0056t0001g0017 a0001c0057t0002g0054 a0001c0058t0050g0116 a0001c0059t0002g0090 a0001c0060t0002g0069 a0001c0061t0045g0114 a0001c0062t0020g0126 a0001c0064t0008g0024 a0001c0065t0024g0141 a0002c0009t0001g0027 a0002c0009t0001g0029 a0002c0009t0041g0110 a0002c0010t0007g0083 a0002c0010t0012g0013 a0002c0010t0016g0028 a0002c0017t0018g0108 a0002c0017t0018g0109 a0002c0023t0019g0131 a0002c0023t0019g0132 a0002c0052t0001g0073 a0003c0032t0009g0049 a0003c0033t0034g0034 a0003c0038t0009g0012 a0003c0041t0003g0091 a0003c0047t0004g0076 a0004c0014t0013g0078 a0004c0014t0013g0094 a0005c0036t0015g0101 a0006c0053t0038g0075 a0007c0050t0003g0016 a0008c0039t0001g0022 a0009c0063t0001g0087 a0010c0066t0001g0055 a0011c0067t0003g0007 a0012c0068t0004g0105	138	142	0.9718	-332	c.785 others(21): Show c.7858-18091_7858-17760del	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	55/56			chr12	TogoVar
KANK1_chr9_499695_751103	547440	TGAGTATT others(325): Show TGAGTATTAAGATTTGGCACAGTGTGTGCAAGCAATGAGACTGGGTTAAA AACAGGAAGTGTCTTAATTTAAAGATGGTGATGGGGAGACGGATTAAAAT AAACTGCTGGCCATGTTGAATCTGAGATAGGCAAGCCTTGGTTGTGGGCA CATTCCCTTCTGAATTACTCTATGCAGATATATTTTAGGCCTCTTTCTAT TAAATTGTCTTTCACATGGTTTCAAAGATAGGGCTAGTGATAAGAATTCT CTTCCTGCATGGTGGGTACCATTATATAAACGGTATGAGCATGCTTTTCT TGTGTCTCTGTATAACTGCTTGGTCTGGCACTC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02293.hp1 HG02738.hp1 HG01516.hp2 HG02293.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0058 a0002c0002t0003g0161 a0002c0002t0003g0182 a0002c0002t0002g0058 a0002c0002t0003g0161 a0002c0002t0003g0182	3	254	0.0118	-332	c.-84 others(19): Show c.-84+42687_-84+43018del	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11			chr9	TogoVar
KIF24_chr9_34247380_34334268	34274437	AGGCCAGG others(325): Show AGGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCG AGGCAGGTGCATCACCTGAGGTCAAGAGTTTGAGACCAGCCTGACCAATA TGATGAAACCCCGTCTGTACTAAAAATAGAACAATTAGCCAGGCGTGGTG GCACATGCCTGTAATCCCAGCTACATGGGAGGCTGAGGCAGGAGAATCAC TTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCAACATTGCAC GCCAGCTTGAACAACAAGAGCAAAATCTGTCTCCAAAGAAAAAAAAAAAG AGTAAAGTGAAAGAACTTAAACAAGGATGGATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(306): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0017 a0019 a0021 a0022	a0001c0001 a0001c0003 a0001c0004 others(17): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0014 a0001c0021 a0001c0022 a0001c0023 a0002c0002 a0002c0008 a0003c0005 a0004c0006 a0004c0035 a0006c0009 a0008c0012 a0009c0013 a0017c0027 a0019c0028 a0021c0033 a0022c0034	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(30): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0003t0003 a0001c0003t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0015 a0001c0010t0001 a0001c0014t0001 a0001c0021t0003 a0001c0022t0001 a0001c0023t0018 a0002c0002t0002 a0002c0002t0021 a0002c0008t0004 a0002c0008t0006 a0002c0008t0023 a0003c0005t0005 a0003c0005t0009 a0004c0006t0005 a0004c0006t0020 a0004c0035t0005 a0006c0009t0002 a0006c0009t0019 a0008c0012t0003 a0009c0013t0001 a0017c0027t0001 a0019c0028t0001 a0021c0033t0002 a0022c0034t0002	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(301): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0174 a0001c0001t0008g0018 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0027 a0001c0001t0011g0056 a0001c0001t0011g0123 a0001c0001t0012g0076 a0001c0001t0012g0079 a0001c0001t0017g0016 a0001c0003t0003g0002 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0134 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0143 a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0159 a0001c0003t0003g0160 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0163 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0175 a0001c0003t0003g0176 a0001c0003t0003g0177 a0001c0003t0003g0178 a0001c0003t0003g0179 a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0016g0142 a0001c0004t0001g0102 a0001c0004t0003g0103 a0001c0004t0003g0107 a0001c0004t0015g0108 a0001c0010t0001g0012 a0001c0010t0001g0091 a0001c0010t0001g0092 a0001c0010t0001g0093 a0001c0010t0001g0094 a0001c0010t0001g0095 a0001c0010t0001g0096 a0001c0010t0001g0097 a0001c0010t0001g0098 a0001c0010t0001g0126 a0001c0014t0001g0084 a0001c0014t0001g0085 a0001c0014t0001g0086 a0001c0014t0001g0087 a0001c0021t0003g0151 a0001c0022t0001g0049 a0001c0023t0018g0101 a0002c0002t0002g0237 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0302 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0379 a0002c0002t0021g0267 a0002c0008t0004g0183 a0002c0008t0004g0184 a0002c0008t0004g0193 a0002c0008t0006g0199 a0002c0008t0006g0200 a0002c0008t0006g0201 a0002c0008t0006g0202 a0002c0008t0006g0203 a0002c0008t0006g0204 a0002c0008t0006g0205 a0002c0008t0006g0206 a0002c0008t0006g0207 a0002c0008t0006g0208 a0002c0008t0006g0209 a0002c0008t0006g0210 a0002c0008t0006g0380 a0002c0008t0006g0381 a0002c0008t0023g0182 a0003c0005t0005g0214 a0003c0005t0005g0216 a0003c0005t0005g0217 a0003c0005t0005g0218 a0003c0005t0005g0219 a0003c0005t0005g0220 a0003c0005t0005g0221 a0003c0005t0005g0222 a0003c0005t0005g0225 a0003c0005t0005g0226 a0003c0005t0005g0229 a0003c0005t0005g0230 a0003c0005t0005g0236 a0003c0005t0005g0244 a0003c0005t0005g0246 a0003c0005t0005g0247 a0003c0005t0005g0248 a0003c0005t0009g0238 a0003c0005t0009g0239 a0003c0005t0009g0240 a0003c0005t0009g0241 a0003c0005t0009g0242 a0003c0005t0009g0243 a0004c0006t0005g0001 a0004c0006t0005g0196 a0004c0006t0005g0197 a0004c0006t0005g0198 a0004c0006t0005g0211 a0004c0006t0005g0212 a0004c0006t0005g0213 a0004c0006t0005g0215 a0004c0006t0005g0223 a0004c0006t0005g0227 a0004c0006t0005g0228 a0004c0006t0005g0231 a0004c0006t0005g0232 a0004c0006t0005g0233 a0004c0006t0005g0235 a0004c0006t0020g0224 a0004c0035t0005g0234 a0006c0009t0002g0260 a0006c0009t0002g0261 a0006c0009t0002g0262 a0006c0009t0002g0268 a0006c0009t0002g0301 a0006c0009t0002g0303 a0006c0009t0002g0304 a0006c0009t0002g0306 a0006c0009t0002g0307 a0006c0009t0002g0308 a0006c0009t0002g0309 a0006c0009t0002g0310 a0006c0009t0002g0311 a0006c0009t0019g0305 a0008c0012t0003g0132 a0008c0012t0003g0133 a0008c0012t0003g0135 a0008c0012t0003g0136 a0008c0012t0003g0137 a0009c0013t0001g0082 a0009c0013t0001g0083 a0009c0013t0001g0088 a0009c0013t0001g0089 a0009c0013t0001g0099 a0017c0027t0001g0035 a0019c0028t0001g0046 a0021c0033t0002g0275 a0022c0034t0002g0316	309	390	0.7923	-332	c.121 others(19): Show c.1216-2839_1216-2508del	KIF24	ENSG00000186638.17	transcript	ENST00000402558.7	protein_coding	6/12			chr9	TogoVar
LAPTM4B_chr8_97770788_97858013	97771220	TAATTTCC others(325): Show TAATTTCCTTAGTCGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(299): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0026 a0001c0005t0001 a0002c0003t0005 a0003c0006t0005	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(299): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0344 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0068 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0002g0322 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0364 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0051 a0001c0001t0003g0060 a0001c0001t0003g0065 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0126 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0149 a0001c0001t0003g0155 a0001c0001t0003g0160 a0001c0001t0003g0257 a0001c0001t0003g0262 a0001c0001t0003g0267 a0001c0001t0003g0274 a0001c0001t0003g0278 a0001c0001t0003g0281 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0327 a0001c0001t0003g0331 a0001c0001t0003g0334 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0347 a0001c0001t0003g0354 a0001c0001t0003g0356 a0001c0001t0003g0371 a0001c0001t0003g0372 a0001c0001t0003g0373 a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0011 a0001c0001t0005g0026 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0050 a0001c0001t0005g0059 a0001c0001t0005g0081 a0001c0001t0005g0125 a0001c0001t0005g0132 a0001c0001t0005g0136 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0151 a0001c0001t0005g0153 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0161 a0001c0001t0005g0321 a0001c0001t0005g0335 a0001c0001t0005g0341 a0001c0001t0005g0361 a0001c0001t0006g0003 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0006g0040 a0001c0001t0006g0042 a0001c0001t0006g0083 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0128 a0001c0001t0006g0162 a0001c0001t0006g0365 a0001c0001t0007g0172 a0001c0001t0008g0012 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0027 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0054 a0001c0001t0008g0362 a0001c0001t0011g0034 a0001c0001t0011g0058 a0001c0001t0011g0073 a0001c0001t0011g0110 a0001c0001t0011g0280 a0001c0001t0011g0282 a0001c0001t0011g0349 a0001c0001t0016g0135 a0001c0001t0016g0276 a0001c0001t0016g0339 a0001c0001t0016g0352 a0001c0001t0022g0049 a0001c0001t0022g0133 a0001c0001t0025g0292 a0001c0001t0027g0302 a0001c0001t0028g0363 a0001c0001t0029g0374 a0001c0001t0030g0066 a0001c0001t0031g0031 a0001c0001t0032g0318 a0001c0001t0033g0048 a0001c0001t0034g0255 a0001c0001t0035g0205 a0001c0001t0036g0123 a0001c0002t0009g0167 a0001c0002t0009g0169 a0001c0002t0009g0249 a0001c0002t0009g0251 a0001c0002t0009g0252 a0001c0002t0009g0375 a0001c0002t0009g0377 a0001c0002t0009g0378 a0001c0002t0009g0380 a0001c0002t0015g0168 a0001c0002t0015g0246 a0001c0002t0015g0248 a0001c0002t0015g0250 a0001c0002t0017g0239 a0001c0002t0017g0240 a0001c0002t0017g0241 a0001c0002t0018g0166 a0001c0002t0018g0243 a0001c0002t0019g0165 a0001c0002t0019g0247 a0001c0002t0020g0376 a0001c0002t0020g0379 a0001c0002t0021g0242 a0001c0002t0021g0245 a0001c0002t0026g0244 a0001c0005t0001g0017 a0001c0005t0001g0024 a0002c0003t0005g0084 a0002c0003t0005g0127 a0002c0003t0005g0351 a0003c0006t0005g0035	302	380	0.7947	-332	c.-47 others(11): Show c.-4789_-4458del	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding		4567		chr8	TogoVar
LMF1_chr16_848634_975984	859412	GCAGTGGT others(325): Show GCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGT TGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGATGT CACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0053 a0001c0004t0001g0053	1	294	0.0034	-332	c.153 others(19): Show c.1530-5038_1530-4707del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MGA_chr15_41655405_41774940	41725537	AAAATAAA others(325): Show AAAATAAATAAGTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(214): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp2 NA18985.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(26): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0029 a0032 a0033 a0034 a0035	a0001c0001 a0001c0006 a0001c0011 others(38): Show a0001c0001 a0001c0006 a0001c0011 a0001c0027 a0001c0028 a0001c0032 a0001c0037 a0001c0044 a0001c0047 a0002c0002 a0002c0025 a0002c0026 a0005c0005 a0006c0007 a0006c0018 a0006c0024 a0007c0008 a0008c0010 a0009c0009 a0010c0013 a0011c0014 a0012c0016 a0013c0042 a0014c0041 a0015c0040 a0016c0038 a0017c0039 a0018c0035 a0019c0033 a0020c0034 a0021c0031 a0022c0036 a0023c0029 a0024c0030 a0025c0043 a0026c0045 a0029c0021 a0032c0019 a0033c0046 a0034c0015 a0035c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0006t0001 a0001c0011t0001 a0001c0027t0019 a0001c0028t0001 a0001c0032t0002 a0001c0037t0002 a0001c0044t0008 a0001c0047t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0025t0001 a0002c0026t0001 a0005c0005t0006 a0005c0005t0010 a0006c0007t0003 a0006c0007t0007 a0006c0007t0015 a0006c0018t0013 a0006c0024t0003 a0007c0008t0006 a0008c0010t0002 a0009c0009t0002 a0010c0013t0002 a0011c0014t0001 a0012c0016t0001 a0013c0042t0001 a0014c0041t0002 a0015c0040t0001 a0016c0038t0001 a0017c0039t0001 a0018c0035t0001 a0019c0033t0002 a0020c0034t0002 a0021c0031t0002 a0022c0036t0002 a0023c0029t0021 a0024c0030t0017 a0025c0043t0002 a0026c0045t0002 a0029c0021t0007 a0032c0019t0002 a0033c0046t0001 a0034c0015t0001 a0035c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0094 a0001c0001t0001g0102 others(213): Show a0001c0001t0001g0003 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0255 a0001c0001t0003g0217 a0001c0001t0008g0152 a0001c0001t0008g0185 a0001c0001t0009g0096 a0001c0001t0009g0121 a0001c0001t0009g0137 a0001c0001t0009g0194 a0001c0001t0009g0224 a0001c0001t0014g0136 a0001c0001t0018g0123 a0001c0001t0020g0221 a0001c0001t0022g0205 a0001c0006t0001g0177 a0001c0006t0001g0178 a0001c0006t0001g0179 a0001c0006t0001g0180 a0001c0006t0001g0181 a0001c0006t0001g0182 a0001c0011t0001g0186 a0001c0027t0019g0162 a0001c0028t0001g0044 a0001c0032t0002g0093 a0001c0037t0002g0291 a0001c0044t0008g0189 a0001c0047t0001g0128 a0002c0002t0001g0001 a0002c0002t0001g0164 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0002g0238 a0002c0002t0002g0267 a0002c0002t0002g0276 a0002c0002t0008g0260 a0002c0025t0001g0285 a0002c0026t0001g0290 a0005c0005t0006g0166 a0005c0005t0006g0167 a0005c0005t0006g0168 a0005c0005t0006g0169 a0005c0005t0006g0170 a0005c0005t0006g0171 a0005c0005t0010g0172 a0005c0005t0010g0173 a0005c0005t0010g0174 a0005c0005t0010g0175 a0006c0007t0003g0023 a0006c0007t0007g0024 a0006c0007t0007g0026 a0006c0007t0007g0027 a0006c0007t0015g0049 a0006c0018t0013g0079 a0006c0024t0003g0050 a0007c0008t0006g0004 a0007c0008t0006g0005 a0007c0008t0006g0006 a0008c0010t0002g0131 a0008c0010t0002g0151 a0009c0009t0002g0108 a0009c0009t0002g0116 a0010c0013t0002g0153 a0011c0014t0001g0187 a0012c0016t0001g0258 a0013c0042t0001g0184 a0014c0041t0002g0120 a0015c0040t0001g0241 a0016c0038t0001g0165 a0017c0039t0001g0286 a0018c0035t0001g0188 a0019c0033t0002g0254 a0020c0034t0002g0214 a0021c0031t0002g0002 a0022c0036t0002g0092 a0023c0029t0021g0176 a0024c0030t0017g0104 a0025c0043t0002g0158 a0026c0045t0002g0211 a0029c0021t0007g0025 a0032c0019t0002g0035 a0033c0046t0001g0143 a0034c0015t0001g0256 a0035c0012t0001g0249	217	292	0.7432	-332	c.343 others(19): Show c.3431-1629_3431-1298del	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
P2RX5_chr17_3668227_3701155	3686243	CCCCCCGC others(325): Show CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02148.hp2 HG01346.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0263 a0001c0001t0001g0084 a0001c0001t0001g0263	2	362	0.0055	-332	c.981 others(17): Show c.981+1437_981+1768del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PLEKHA4_chr19_48832097_48873617	48834421	TTGGACTC others(325): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18979.hp1 NA18948.hp2 NA18979.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0246 a0004c0004t0003g0248 a0004c0004t0003g0246 a0004c0004t0003g0248	2	300	0.0067	-332	c.25 others(11): Show c.2536_*2867del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2675		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834455	GGCCTGGA others(325): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGG TCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA GGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02647.hp1 others(1): Show HG02055.hp1 HG02486.hp1 HG02647.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0005 a0002c0002t0001 a0002c0002t0002 a0003c0003t0005	a0002c0002t0001g0230 a0002c0002t0002g0076 a0002c0002t0002g0091 others(1): Show a0002c0002t0001g0230 a0002c0002t0002g0076 a0002c0002t0002g0091 a0003c0003t0005g0066	4	300	0.0133	-332	c.25 others(11): Show c.2502_*2833del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2641		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	165152	ACACTAAT others(325): Show ACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCG GAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGAC GGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTC TGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTA ATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTC ACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGATGGGGCG GGGCTCACACTAATGCTCTGACGGGGCGGAGCT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0062 a0019c0019t0062	a0019c0019t0062g0191 a0019c0019t0062g0191	1	210	0.0048	-332	c.347 others(19): Show c.3476+1608_3476+1939del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB11FIP3_chr16_420649_528011	445124	AAAAAAAA others(325): Show AAAAAAAAGAAAAAAAGATTGGGTTCAGGCTGGGTGCGGTGGCTCACACA TGTAATCCAAGCACTTTAGGAGGCCAAGGCAGGCAGATCACTTGAGGTCA GGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGAATCTACTAAA AATACAAAAAAAAAAATCAGCCAGGCCTGGTGGCAAGTGCCTGTAGTTTC AGCTACTTGGGAGGCTGAGGCACGAGAATCGCTTGAACCCAGGAGGCGGA GTTTACAGTGAGCTGAGATCTTGCCACTGCATTCCAGCCTGGGTGACAGA GCAAGACTCTTGTCTCAAAATAAAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp1 HG02257.hp2 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0058 a0001c0008t0057 a0001c0006t0058 a0001c0008t0057	a0001c0006t0058g0111 a0001c0008t0057g0113 a0001c0006t0058g0111 a0001c0008t0057g0113	2	295	0.0068	-332	c.715 others(19): Show c.715-16270_715-15939del	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RPS6KA2_chr6_166404364_166632251	166481711	TTCTCTGA others(325): Show TTCTCTGATAAGATGGTAGACTGTACGTATACCTCTCTGATCAATCTTAA AGTATGTGCTACAGAGTGGAGGCCTCTGCTGAGTTCTCTGATAAGATGGC AGACTGCAGGTATACCTCTCTGATCGATCTTAAAGTATGTGCTGCAGTGT GGAGAGCTCTGCTGAGCTCTCTGATAAGATGGTAGACTGTATGTATACCT CTCTGATCAATCTTAAAGTATGTGCTGCAGAGTGGAGGCCTCTGCTGAGT TCTCTGGTAAGATGGCAGACTGCACGTATACCTCTCTGATCGATCTTAAA GTATGTGCTGCAGCTTGGAGAGCTCTGCTGAGC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02895.hp2 HG02897.hp1 others(4): Show HG02074.hp2 HG02895.hp2 HG02897.hp1 HG03209.hp1 NA18982.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0016 others(2): Show a0001c0002 a0001c0004 a0001c0016 a0001c0022 a0001c0038	a0001c0002t0013 a0001c0004t0001 a0001c0004t0014 others(3): Show a0001c0002t0013 a0001c0004t0001 a0001c0004t0014 a0001c0016t0044 a0001c0022t0004 a0001c0038t0018	a0001c0002t0013g0008 a0001c0004t0001g0242 a0001c0004t0014g0064 others(4): Show a0001c0002t0013g0008 a0001c0004t0001g0242 a0001c0004t0014g0064 a0001c0016t0044g0186 a0001c0022t0004g0071 a0001c0022t0004g0237 a0001c0038t0018g0002	7	244	0.0287	-332	c.907 others(17): Show c.907+6790_907+7121del	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1289283	CCGTGTCC others(325): Show CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	290	0.0035	-332	c.166 others(17): Show c.1663-986_1663-655del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66735521	TAAGAGTG others(325): Show TAAGAGTGAGATCGTGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp1 others(167): Show HG00099.hp1 HG00140.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18970.hp1 NA18972.hp2 NA18978.hp2 NA18984.hp1 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19058.hp2 NA19064.hp2 NA19074.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0012 a0001c0013 a0001c0014 a0002c0002 a0002c0003 a0003c0005 a0004c0009 a0006c0016 a0007c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0004t0001 a0001c0004t0025 a0001c0004t0061 a0001c0007t0004 a0001c0012t0006 a0001c0013t0004 a0001c0014t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0022 a0002c0002t0024 a0002c0002t0026 a0002c0002t0037 a0002c0002t0044 a0002c0002t0057 a0002c0003t0004 a0002c0003t0005 a0002c0003t0025 a0002c0003t0033 a0002c0003t0034 a0002c0003t0053 a0002c0003t0054 a0002c0003t0058 a0003c0005t0005 a0003c0005t0006 a0004c0009t0001 a0006c0016t0023 a0007c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0070 others(167): Show a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0004g0205 a0001c0001t0005g0029 a0001c0001t0005g0213 a0001c0001t0005g0217 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0006g0043 a0001c0001t0006g0202 a0001c0001t0006g0218 a0001c0001t0006g0231 a0001c0001t0006g0251 a0001c0001t0008g0157 a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0011g0165 a0001c0001t0011g0255 a0001c0001t0012g0101 a0001c0001t0012g0102 a0001c0001t0012g0104 a0001c0001t0012g0105 a0001c0001t0012g0106 a0001c0001t0014g0071 a0001c0001t0014g0131 a0001c0001t0014g0137 a0001c0001t0014g0142 a0001c0001t0015g0228 a0001c0001t0015g0229 a0001c0001t0015g0230 a0001c0001t0018g0226 a0001c0001t0018g0227 a0001c0001t0019g0021 a0001c0001t0019g0060 a0001c0001t0020g0224 a0001c0001t0020g0225 a0001c0001t0022g0184 a0001c0001t0023g0113 a0001c0001t0024g0001 a0001c0001t0026g0207 a0001c0001t0027g0090 a0001c0001t0027g0091 a0001c0001t0028g0258 a0001c0001t0028g0302 a0001c0001t0029g0020 a0001c0001t0030g0216 a0001c0001t0031g0069 a0001c0001t0032g0098 a0001c0001t0036g0238 a0001c0001t0052g0201 a0001c0001t0055g0170 a0001c0001t0056g0267 a0001c0001t0059g0103 a0001c0001t0060g0167 a0001c0001t0062g0257 a0001c0004t0001g0009 a0001c0004t0001g0014 a0001c0004t0001g0058 a0001c0004t0001g0062 a0001c0004t0001g0088 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0261 a0001c0004t0025g0086 a0001c0004t0061g0008 a0001c0007t0004g0114 a0001c0007t0004g0117 a0001c0007t0004g0118 a0001c0007t0004g0119 a0001c0012t0006g0215 a0001c0013t0004g0099 a0001c0014t0001g0087 a0002c0002t0001g0116 a0002c0002t0001g0127 a0002c0002t0001g0275 a0002c0002t0001g0289 a0002c0002t0003g0198 a0002c0002t0004g0108 a0002c0002t0004g0120 a0002c0002t0004g0121 a0002c0002t0004g0123 a0002c0002t0004g0124 a0002c0002t0004g0125 a0002c0002t0004g0199 a0002c0002t0004g0200 a0002c0002t0011g0250 a0002c0002t0011g0253 a0002c0002t0011g0256 a0002c0002t0022g0254 a0002c0002t0024g0122 a0002c0002t0026g0249 a0002c0002t0037g0111 a0002c0002t0044g0126 a0002c0002t0057g0286 a0002c0003t0004g0154 a0002c0003t0004g0155 a0002c0003t0004g0204 a0002c0003t0005g0129 a0002c0003t0005g0130 a0002c0003t0005g0136 a0002c0003t0025g0133 a0002c0003t0033g0262 a0002c0003t0034g0156 a0002c0003t0053g0144 a0002c0003t0054g0190 a0002c0003t0058g0214 a0003c0005t0005g0175 a0003c0005t0006g0176 a0003c0005t0006g0177 a0003c0005t0006g0179 a0003c0005t0006g0180 a0003c0005t0006g0181 a0004c0009t0001g0192 a0004c0009t0001g0193 a0006c0016t0023g0097 a0007c0015t0001g0110	170	302	0.5629	-332	c.203 others(19): Show c.2031+1660_2031+1991del	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	246234204	CAGAGGAG others(325): Show CAGAGGAGAAGCGCTCCTTCAATTCACACTGTGATGAACATATACCACAC AGAGGAGAAGCACTCCTCAATTCACACTGTGATGAACATACACCAGAGGA GAAGTGCTCCTTCCACTCACACTGTGATGAACATGTACCACATGGAGGAG AAGCACTCCTTCAGTTCATACTGTGATGAACATATACCACACAGAGGAGA AGCACTTCTTCCATTCACACTGTGATGAACATATACCATGCAGAGAAGTA CTCCTTCCGTTAACACCATGATGACTATATACTGTACAGAGAAGCACTCC TTCAGTTCACACTGTGATGAATATACACCGTAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp2 others(15): Show HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02165.hp2 HG02602.hp1 HG03017.hp1 HG04228.hp1 NA18747.hp2 NA18965.hp2 NA18971.hp2 NA18984.hp1 NA19086.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0011t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0061 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0002t0001g0073 a0001c0002t0002g0084 a0001c0011t0002g0049 a0001c0014t0002g0091 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0109 a0002c0003t0002g0104	18	150	0.1200	-332	c.531 others(19): Show c.531+92665_531+92996del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
STK38L_chr12_27239286_27330959	27240790	ATGTATAG others(325): Show ATGTATAGTTGTATAGTTATATATATTACATATATCACTATGTATAGTTG TATAGTTATATATATTACATATATCACTATGTATAGTTGTATAGTTATAT ATATTACATATATGACTATGTATAGTTATATATATTACATATATGACTAT GTATAGTTATATATATTACATATATGACTATGTATAGTTATATATATTAC ATATATGACTGTATAGTTATATATATTACATATATGACTATGTATAGTTA TATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGAC TCTGTATAGTTATATATATTACATATATGACTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG06807.hp1 HG01192.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0322 a0001c0001t0001g0323	2	374	0.0054	-332	c.-35 others(11): Show c.-3553_-3222del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3495		chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129388076	GACACTAA others(325): Show GACACTAACAGCAACACCAATACTAACACCAACACCAATCCAGCACTGAT GATAATATGAACACTAACATGAGTCCTAATATAAACACTAATAGCAACAC CAATATTAACACCAAGACCAATTCAGCACTGATAATAATATTAACACTAA CACGAATCCTAATATAAACACTAACACCGACACCAATACTAACACCAACA CCAATCCAGCACTGATGATAATATTAACACTAACATGAATCCTAATATAA ACACTAACACCGACACCAATACTAACACCAACACCAATCCAGCACTGATG ATAATATTAACACTAACACGAATCCTAATATAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG01433.hp2 others(9): Show HG00099.hp2 HG01192.hp2 HG01433.hp2 HG01884.hp1 HG01978.hp1 HG02040.hp2 HG02976.hp1 HG03471.hp2 HG03831.hp1 NA19091.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0006 a0001c0010 others(2): Show a0001c0001 a0001c0006 a0001c0010 a0002c0003 a0006c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0020 a0001c0006t0002 a0001c0010t0005 a0002c0003t0001 a0006c0015t0024	a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0003g0084 others(9): Show a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0005g0037 a0001c0001t0005g0042 a0001c0001t0014g0004 a0001c0001t0020g0073 a0001c0006t0002g0076 a0001c0010t0005g0064 a0002c0003t0001g0031 a0006c0015t0024g0087	12	94	0.1277	-332	c.111 others(21): Show c.1116-50591_1116-50260del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8			chr12	TogoVar
TTC38_chr22_46263008_46299008	46294251	ATCCCAGC others(325): Show ATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAG GCAGTGATTGCAGTGAGCCAAGATCGTGCCATTGCACTGCAGTCTGGGCA ACAGAGCGAGACTCCCATCTCAAGGGAAAAAAAAAAAAAAGTAGGTGGGG CATCTAGTCAAGAAAATGGGAGGTCGGGCGCAGTGGCTCACGTCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGTAGATCACGAGGTCAGGAGATCA AGACCATCCTGGCTAACACGGTGAAACCCCATCTCTATTAAAAATACAAA AAATTAGCCGGGCATGGTGGTGGGCGCCTGTAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01433.hp1 HG01496.hp2 others(29): Show HG00639.hp2 HG01433.hp1 HG01496.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009	a0001c0001t0002 a0001c0002t0002 a0001c0005t0002 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0005t0002 a0001c0008t0002 a0001c0009t0002	a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0166 others(27): Show a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0166 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0033 a0001c0002t0002g0118 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0133 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0168 a0001c0005t0002g0129 a0001c0005t0002g0131 a0001c0005t0002g0132 a0001c0005t0002g0134 a0001c0005t0002g0135 a0001c0008t0002g0163 a0001c0009t0002g0162	32	232	0.1379	-332	c.13 others(11): Show c.1368_*1699del	TTC38	ENSG00000075234.17	transcript	ENST00000381031.8	protein_coding		244		chr22	TogoVar
TTN_chr2_178520989_178812423	178699378	ACACTCTT others(325): Show ACACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCCCGCTGTTTAGCCCAGGCCGGATTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACACCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATG GTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCAGCC	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0183 a0183	a0183c0204 a0183c0204	a0183c0204t0001 a0183c0204t0001	a0183c0204t0001g0139 a0183c0204t0001g0139	1	242	0.0041	-332	c.306 others(19): Show c.30683-796_30683-465del	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	111/362			chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133292024	TCTGTGTC others(325): Show TCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCC CGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCA TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCA CACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCG GGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCC GTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCATGCACACTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA20752.hp2 HG02071.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0203 a0001c0001t0001g0174 a0001c0001t0001g0203	2	284	0.0070	-332	c.121 others(17): Show c.1214+143_1214+474del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393144	AGGTGGTC others(325): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02630.hp2 HG01515.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0190 a0001c0001t0001 a0001c0005t0190	a0001c0001t0001g0148 a0001c0005t0190g0122 a0001c0001t0001g0148 a0001c0005t0190g0122	2	346	0.0058	-332	c.181 others(21): Show c.1811-13173_1811-12842del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF623_chr8_143631019_143658730	143641432	AGTGAGTA others(325): Show AGTGAGTAGTGTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT TTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(351): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0002c0004 a0003c0007 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0005t0001 a0001c0005t0002 a0001c0008t0004 a0001c0009t0005 a0001c0010t0001 a0002c0004t0003 a0003c0007t0004 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0022 others(170): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0150 a0001c0001t0005g0001 a0001c0001t0005g0009 a0001c0001t0005g0017 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0102 a0001c0001t0005g0115 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0005g0138 a0001c0001t0005g0141 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0151 a0001c0001t0005g0172 a0001c0001t0005g0175 a0001c0001t0007g0002 a0001c0001t0007g0015 a0001c0001t0007g0055 a0001c0001t0012g0001 a0001c0001t0013g0002 a0001c0001t0016g0040 a0001c0001t0017g0048 a0001c0001t0018g0002 a0001c0001t0019g0002 a0001c0001t0020g0046 a0001c0001t0021g0052 a0001c0001t0022g0018 a0001c0001t0032g0001 a0001c0001t0033g0127 a0001c0001t0034g0001 a0001c0002t0003g0003 a0001c0002t0003g0013 a0001c0002t0003g0021 a0001c0002t0003g0025 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0044 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0101 a0001c0002t0003g0103 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0114 a0001c0002t0004g0004 a0001c0002t0004g0016 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0077 a0001c0002t0004g0082 a0001c0002t0004g0088 a0001c0002t0004g0089 a0001c0002t0004g0090 a0001c0002t0004g0092 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0095 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0004g0099 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0006g0007 a0001c0002t0006g0012 a0001c0002t0006g0080 a0001c0002t0006g0081 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0002t0006g0085 a0001c0002t0006g0111 a0001c0002t0008g0010 a0001c0002t0008g0134 a0001c0002t0008g0143 a0001c0002t0009g0006 a0001c0002t0011g0087 a0001c0002t0011g0100 a0001c0002t0024g0047 a0001c0002t0025g0104 a0001c0002t0026g0045 a0001c0002t0027g0003 a0001c0002t0028g0086 a0001c0002t0029g0004 a0001c0002t0030g0091 a0001c0002t0031g0124 a0001c0005t0001g0001 a0001c0005t0002g0002 a0001c0008t0004g0016 a0001c0009t0005g0121 a0001c0010t0001g0140 a0002c0004t0003g0003 a0003c0007t0004g0031 a0004c0006t0001g0038 a0004c0006t0001g0042	354	385	0.9195	-332	c.-96 others(17): Show c.-96+5302_-96+5633del	ZNF623	ENSG00000183309.12	transcript	ENST00000526926.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADARB2_chr10_1172313_1742525	1237858	CTCCCGGT others(324): Show CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	106	0.0094	-331	c.136 others(19): Show c.1361+3942_1362-4014del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar

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