Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VGLL4_chr3_11551069_11648915	11599587	C C	CGGCTCAC others(565): Show CGGCTCACTCCAAGTTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCA GGCTTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTC GGATTACAGGCGTGAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTT TAAGACAGAGTCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCC GGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAGACAGAGTCTCAGCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00609.hp1 others(63): Show HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp1 HG01169.hp1 HG01261.hp1 HG01358.hp1 HG02027.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02257.hp2 HG02273.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19030.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0001t0023 a0001c0001t0035 a0001c0002t0002 a0001c0002t0004 a0001c0002t0037 a0001c0004t0005 a0001c0005t0003 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0051 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0302 a0001c0001t0002g0357 a0001c0001t0003g0264 a0001c0001t0004g0382 a0001c0001t0005g0148 a0001c0001t0020g0152 a0001c0001t0023g0168 a0001c0001t0035g0266 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0254 a0001c0002t0004g0203 a0001c0002t0037g0253 a0001c0004t0005g0143 a0001c0004t0005g0167 a0001c0005t0003g0226 a0001c0005t0003g0260 a0001c0013t0001g0101	66	388	0.1701	572	c.272 others(589): Show c.272+2245_272+2246insAGCTGAGACTCTGTCTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTA ATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGTGCCCGGCCGACTCTGTCTTAAAAAA AAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCGAGCA CTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGAAGCCTGAGG CAGGAGAATGGCGTGAACCTGGGAGGCGGAACTTGGAGTGAGCC	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(565): Show GCTCCGACTCCCACATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTAAGACAGAGTCGG CCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTGTTGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAG AGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19081.hp2 NA18946.hp2 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0063 a0002c0003t0001g0084 a0002c0003t0001g0063 a0002c0003t0001g0084	2	388	0.0052	572	c.272 others(589): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCAAC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGAC TCTGTCTTAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAG AGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAATGTGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(565): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTCTTTTTTTAAGACAGAGT CGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGG CGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAG AGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0086 a0001c0004t0009g0093 a0001c0004t0009g0094 others(1): Show a0001c0004t0009g0086 a0001c0004t0009g0093 a0001c0004t0009g0094 a0001c0004t0009g0095	4	388	0.0103	572	c.272 others(589): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAGAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAG AGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(565): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTTAAGACAGAGT CGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGG CGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAG AGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00609.hp2 others(91): Show HG00280.hp1 HG00438.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18944.hp2 NA18947.hp1 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18971.hp1 NA18974.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19060.hp1 NA19062.hp2 NA19077.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0004c0012 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0038 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0017 a0001c0002t0031 a0001c0007t0001 a0004c0012t0001 a0005c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(91): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0287 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0005g0131 a0001c0001t0006g0106 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0137 a0001c0001t0008g0104 a0001c0001t0008g0105 a0001c0001t0008g0107 a0001c0001t0008g0110 a0001c0001t0021g0040 a0001c0001t0024g0030 a0001c0001t0032g0301 a0001c0001t0038g0386 a0001c0002t0002g0209 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0219 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0244 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0004g0201 a0001c0002t0004g0202 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0206 a0001c0002t0004g0207 a0001c0002t0007g0246 a0001c0002t0007g0247 a0001c0002t0007g0250 a0001c0002t0007g0251 a0001c0002t0007g0252 a0001c0002t0007g0262 a0001c0002t0017g0245 a0001c0002t0031g0213 a0001c0007t0001g0035 a0001c0007t0001g0036 a0004c0012t0001g0003 a0005c0008t0002g0261	94	388	0.2423	572	c.272 others(589): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAG AGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(565): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTTAAGACAGAGT CGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGG CGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAG AGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	388	0.0026	572	c.272 others(589): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAG AGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(565): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTGGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTTAAGACAGAGT CGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGG CGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAG AGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0103 a0001c0001t0013g0103	1	388	0.0026	572	c.272 others(589): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(565): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTAAGACAGAGTC GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGC GGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAG AGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0242 a0001c0002t0019g0242	1	388	0.0026	572	c.272 others(589): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCAC CACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTC TGTCTTAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAG AGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(565): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTAAGACAGAGTC GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGC GGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAG AGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19058.hp1 NA18747.hp2 NA19058.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0227 a0001c0005t0003g0233 a0001c0005t0003g0227 a0001c0005t0003g0233	2	388	0.0052	572	c.272 others(589): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCAC CACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTC TGTCTTAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAG AGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(565): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTTAAGACAGAGT CGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGG CGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAG AGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0255 a0001c0002t0002g0255	1	388	0.0026	572	c.272 others(589): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAG AGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(565): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTTAAGACAGAGT CGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGG CGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAG AGTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	388	0.0026	572	c.272 others(589): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAG AGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(565): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	408	0.0025	572	c.53+ others(587): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(565): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	408	0.0025	572	c.53+ others(587): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(565): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	408	0.0025	572	c.53+ others(587): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATCGATAGACAGATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(565): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	326	0.0031	572	c.483 others(587): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(565): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	326	0.0031	572	c.483 others(587): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(565): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	326	0.0031	572	c.483 others(587): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289848	T T	TCTCTGCT others(566): Show TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCG TGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	295	0.0034	573	c.37 others(584): Show c.3715_*3716insGGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGA GACACGGGACGGAGCAGACACGGGGGACGGAGCAGGGACACGGGGGACGG AGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGACA CGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2542		chr1	TogoVar
ADGRG6_chr6_142297007_142451261	142318119	T T	TTATATTT others(566): Show TTATATTTATATATTATATATTTATATAATATATATTTATATATTATATA TTTATATAATATATATTTATATATTATATATTTATATAATATATATTTAT ATATTATATATATATATAATATATATTTATATATTATATATTTATATAAT ATATATTTATATATTATATATTTATATAATATATATTTATATATTATATA TTTATATAATATATATTTATATATTATATATTTATATAATATATATTTAT ATATTATATATTTATATAATATATATTTATATATTATATATTTATATAAT ATATATTTATATATTATATATTTATATAATATATATTTATATATTATATA TTTATATAATATATATTTATATATTATATATTTATATAATATATATTTAT ATATTATATATTTATATAATATATATTTATATATTATATATTTATATAAT ATATATTTATATATTATATATTTATATAATATATATTTATATATTATATA TTTATATAATATATATTTATATATTATATATTTATATAATATATATTATA TATTATATATTTATATAATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0004 a0001c0001t0001g0005	2	260	0.0077	573	c.103 others(590): Show c.103+8475_103+8476insTATATTTATATATTATATATTTATATAA TATATATTTATATATTATATATTTATATAATATATATTTATATATTATAT ATTTATATAATATATATTTATATATTATATATATATATAATATATATTTA TATATTATATATTTATATAATATATATTTATATATTATATATTTATATAA TATATATTTATATATTATATATTTATATAATATATATTTATATATTATAT ATTTATATAATATATATTTATATATTATATATTTATATAATATATATTTA TATATTATATATTTATATAATATATATTTATATATTATATATTTATATAA TATATATTTATATATTATATATTTATATAATATATATTTATATATTATAT ATTTATATAATATATATTTATATATTATATATTTATATAATATATATTTA TATATTATATATTTATATAATATATATTTATATATTATATATTTATATAA TATATATTTATATATTATATATTTATATAATATATATTTATATATTATAT ATTTATATAATATATATTATATATTATATATTTATATAATATATA	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24			chr6	TogoVar
AK5_chr1_77277019_77564966	77472787	G G	GGCTGAGG others(566): Show GGCTGAGGTGAGAGAATCACTTGACTCTGGGTAGCAGAGGTTGCAGTGAA CTGAGATGATGCCACTGCACTCCAGCCTGGGTGACACAGTTGAGACCCTG TCTCAAAAAAAAAAAGGGAGGAAGACGGAGGAAGACTAGGCATCTAGAAG TGTCTGCCAAAGAGGTCACTGAGGGAGGAAGAAGAATGGCCCTTGGCAGG GCTCTGGAGCCACCCATTCCACCTTCACCAATAGTAGCCCCCATTCATAT CAGTCTAATATGTTACACTTCCCTGTGAGATTGTGTTTGACCAAAAGCTT CCATGGATAAAATCATTTGCAAATCTTGATTTTGGCACACACTCAAATAC CTAATAAACTCAGTGACTCAAAACTGACTGCTCCCCATTCCATTCCCAGC ACCTGGAACAGTTCCTAGCACGTAGTAGAAGTTTGTATGGATTTCCTATC ATTGCCATAGCAGATTGCCACAAACATGGTGGATAGAGGAGCACACATTT ATGATCTTACAGTGCTGGAAGTCAGGAGTCCAAAATAATTTTCACTGGGC TAAAATCAAGGTGTCAGCAAGATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00639.hp2 others(79): Show HG00323.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02027.hp2 HG02055.hp2 HG02132.hp2 HG02258.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03704.hp1 HG04204.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp2 NA19088.hp1 NA19091.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0021 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0010 a0002c0002t0016 a0002c0002t0022 a0002c0002t0026 a0002c0002t0027 a0002c0004t0002 a0002c0004t0010 a0002c0004t0012 a0002c0004t0017 a0002c0004t0018	a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0058 others(79): Show a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0213 a0001c0001t0001g0263 a0001c0001t0003g0171 a0001c0001t0003g0187 a0001c0001t0004g0047 a0001c0001t0004g0202 a0001c0001t0005g0231 a0001c0001t0006g0227 a0001c0003t0001g0239 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0260 a0001c0003t0004g0248 a0001c0003t0007g0132 a0001c0003t0021g0237 a0002c0002t0002g0009 a0002c0002t0002g0026 a0002c0002t0002g0041 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0118 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0210 a0002c0002t0002g0223 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0282 a0002c0002t0005g0148 a0002c0002t0005g0151 a0002c0002t0005g0172 a0002c0002t0005g0173 a0002c0002t0005g0177 a0002c0002t0005g0192 a0002c0002t0008g0109 a0002c0002t0010g0039 a0002c0002t0010g0105 a0002c0002t0016g0126 a0002c0002t0016g0127 a0002c0002t0022g0204 a0002c0002t0026g0156 a0002c0002t0027g0175 a0002c0004t0002g0240 a0002c0004t0002g0241 a0002c0004t0002g0245 a0002c0004t0002g0247 a0002c0004t0002g0249 a0002c0004t0002g0252 a0002c0004t0002g0255 a0002c0004t0002g0259 a0002c0004t0010g0254 a0002c0004t0012g0131 a0002c0004t0017g0200 a0002c0004t0018g0251 a0002c0004t0018g0256	82	284	0.2887	573	c.106 others(594): Show c.1060-10528_1060-10527insTGAGGTGAGAGAATCACTTGACTC TGGGTAGCAGAGGTTGCAGTGAACTGAGATGATGCCACTGCACTCCAGCC TGGGTGACACAGTTGAGACCCTGTCTCAAAAAAAAAAAGGGAGGAAGACG GAGGAAGACTAGGCATCTAGAAGTGTCTGCCAAAGAGGTCACTGAGGGAG GAAGAAGAATGGCCCTTGGCAGGGCTCTGGAGCCACCCATTCCACCTTCA CCAATAGTAGCCCCCATTCATATCAGTCTAATATGTTACACTTCCCTGTG AGATTGTGTTTGACCAAAAGCTTCCATGGATAAAATCATTTGCAAATCTT GATTTTGGCACACACTCAAATACCTAATAAACTCAGTGACTCAAAACTGA CTGCTCCCCATTCCATTCCCAGCACCTGGAACAGTTCCTAGCACGTAGTA GAAGTTTGTATGGATTTCCTATCATTGCCATAGCAGATTGCCACAAACAT GGTGGATAGAGGAGCACACATTTATGATCTTACAGTGCTGGAAGTCAGGA GTCCAAAATAATTTTCACTGGGCTAAAATCAAGGTGTCAGCAAGATTGC	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77472787	G G	GGCTGAGG others(566): Show GGCTGAGGTGAGAGAATCACTTGACTCTGGGTAGCAGAGGTTGCAGTGAA CTGAGATGATGCCACTGCACTCCAGCCTGGGTGACACAGTTGAGACCCTG TCTCAAAAAAAAAAAGGGAGGAAGACGGAGGAAGACTAGGCATCTAGAAG TGTCTGCCAAAGAGGTCACTGAGGGAGGAAGAAGAATGGCCCTTGGCAGG GCTCTGGAGCCACCCATTCCACCTTCACCAATAGTAGCCCCCATTCATAT CAGTCTAATATGTTACACTTCCCTGTGAGATTGTGTTTGACCAAAAGCTT CCATGGATAAAATCATTTGCAAATCTTGATTTTGGCACACACTCAAATAC CTAATAAACTCAGTGACTCAAAACTGACTGCTCCCCATTCCATTCCCAGC ACCTGGAACAGTTCCTAGCACGTAGTAGAAGTTTGTATGGATTTCCTATC ATTGCCATAGCAGATTGCCACAAACATGGTGGATAGAGGAGCACACATTT ATGATCTTACAGTGCTGGAAGTCAGGAGTCCAAAATAATTTTCACTGGGC TAAAATCAAGGTGTTAGCAAGATT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	284	0.0035	573	c.106 others(594): Show c.1060-10528_1060-10527insTGAGGTGAGAGAATCACTTGACTC TGGGTAGCAGAGGTTGCAGTGAACTGAGATGATGCCACTGCACTCCAGCC TGGGTGACACAGTTGAGACCCTGTCTCAAAAAAAAAAAGGGAGGAAGACG GAGGAAGACTAGGCATCTAGAAGTGTCTGCCAAAGAGGTCACTGAGGGAG GAAGAAGAATGGCCCTTGGCAGGGCTCTGGAGCCACCCATTCCACCTTCA CCAATAGTAGCCCCCATTCATATCAGTCTAATATGTTACACTTCCCTGTG AGATTGTGTTTGACCAAAAGCTTCCATGGATAAAATCATTTGCAAATCTT GATTTTGGCACACACTCAAATACCTAATAAACTCAGTGACTCAAAACTGA CTGCTCCCCATTCCATTCCCAGCACCTGGAACAGTTCCTAGCACGTAGTA GAAGTTTGTATGGATTTCCTATCATTGCCATAGCAGATTGCCACAAACAT GGTGGATAGAGGAGCACACATTTATGATCTTACAGTGCTGGAAGTCAGGA GTCCAAAATAATTTTCACTGGGCTAAAATCAAGGTGTTAGCAAGATTGC	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77472787	G G	GGCTGAGG others(566): Show GGCTGAGGTGAGAGAATCACTTGACTCTGGGTAGCAGAGGTTGCAGTGAA CTGAGATGATGCCACTGCACTCCAGCCTGGGTGACAGAGTTGAGACCCTG TCTCAAAAAAAAAAAGGGAGGAAGACGGAGGAAGACTAGGCATCTAGAAG TGTCTGCCAAAGAGGTCACTGAGGGAGGAAGAAGAATGGCCCTTGGCAGG GCTCTGGAGCCACCCATTCCACCTTCACCAATAGTAGCCCCCATTCATAT CAGTCTAATATGTTACACTTCCCTGTGAGATTGTGTTTGACCAAAAGCTT CCATGGATAAAATCATTTGCAAATCTTGATTTTGGCACACACTCAAATAC CTAATAAACTCAGTGACTCAAAACTGACTGCTCCCCATTCCATTCCCAGC ACCTGGAACAGTTCCTAGCACGTAGTAGAAGTTTGTATGGATTTCCTATC ATTGCCATAGCAGATTGCCACAAACATGGTGGATAGAGGAGCACACATTT ATGATCTTACAGTGCTGGAAGTCAGGAGTCCAAAATAATTTTCACTGGGC TAAAATCAAGGTGTCAGCAAGATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp2 HG03209.hp2 others(1): Show HG02818.hp1 HG03098.hp2 HG03209.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0008 a0002c0002t0013 a0002c0006t0014 others(1): Show a0002c0002t0008 a0002c0002t0013 a0002c0006t0014 a0002c0006t0020	a0002c0002t0008g0107 a0002c0002t0013g0232 a0002c0006t0014g0088 others(1): Show a0002c0002t0008g0107 a0002c0002t0013g0232 a0002c0006t0014g0088 a0002c0006t0020g0090	4	284	0.0141	573	c.106 others(594): Show c.1060-10528_1060-10527insTGAGGTGAGAGAATCACTTGACTC TGGGTAGCAGAGGTTGCAGTGAACTGAGATGATGCCACTGCACTCCAGCC TGGGTGACAGAGTTGAGACCCTGTCTCAAAAAAAAAAAGGGAGGAAGACG GAGGAAGACTAGGCATCTAGAAGTGTCTGCCAAAGAGGTCACTGAGGGAG GAAGAAGAATGGCCCTTGGCAGGGCTCTGGAGCCACCCATTCCACCTTCA CCAATAGTAGCCCCCATTCATATCAGTCTAATATGTTACACTTCCCTGTG AGATTGTGTTTGACCAAAAGCTTCCATGGATAAAATCATTTGCAAATCTT GATTTTGGCACACACTCAAATACCTAATAAACTCAGTGACTCAAAACTGA CTGCTCCCCATTCCATTCCCAGCACCTGGAACAGTTCCTAGCACGTAGTA GAAGTTTGTATGGATTTCCTATCATTGCCATAGCAGATTGCCACAAACAT GGTGGATAGAGGAGCACACATTTATGATCTTACAGTGCTGGAAGTCAGGA GTCCAAAATAATTTTCACTGGGCTAAAATCAAGGTGTCAGCAAGATTGC	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(566): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGGGGAGG GGGAGGGGGGAGGAGGGGGGGAGGAGGAGGGGGGAGGAGGGGGGGAGGAG GAGGGGGGAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGG GAGGGGGGGAGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGG AGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGGGAGGAGG AGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGG GAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGG AGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0152 a0001c0001t0030g0152	1	301	0.0033	573	c.125 others(594): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTC CCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCT CCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTC CCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCC CCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCC TCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCC TTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCC CTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANKRD11_chr16_89262630_89495561	89341900	A A	ACCCACAG others(566): Show ACCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAA CAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCC ACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGC CCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATG GCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGT GCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGC ACCTCCTCCACGAACAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTC CACCCACAGCGGCCACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCC ACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGC AGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAG CCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGCCCAC GGCGGGAGTGCTGCACCTCCACTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0018 a0018	a0018c0046 a0018c0046	a0018c0046t0002 a0018c0046t0002	a0018c0046t0002g0125 a0018c0046t0002g0125	1	310	0.0032	573	c.-59 others(592): Show c.-59-24823_-59-24822insCAGTGGAGGTGCAGCACTCCCGCCGT GGGCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCT GTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGC TGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGG GCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGA GGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGC AGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCAC TCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCA TGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGC CGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGG CCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTT CGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ARHGAP39_chr8_144524179_144690846	144687263	A A	ACCCCGTG others(566): Show ACCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCCGTGACCACA CACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGC ACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCCG TGACCACACACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAG CAGTGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCC CACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACA CACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGC ACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCCG TGACCACACACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAG CAGTGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCC CACCCCGTGACCACGCACTGGCAGTGAGCACTTCCCACCCCCGTGACCAC TCATTTACAGCGAGCACTTCTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	246	0.0041	573	c.-16 others(584): Show c.-1660_-1659insGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGG GGGTGGGAAGTGCTCACTGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTC GCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTGTG GTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGG AAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCT AGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTC GCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTGTG GTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGG AAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCT AGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACG GGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1418		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049987	C C	CACATGGG others(566): Show CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGA GAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGG GGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAG GAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACAT GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGG CAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGAGAA CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGG GGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGA GAACACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	308	0.0033	573	c.47 others(584): Show c.4743_*4744insATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGT TCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTG CCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGT GTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCAT GTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCC CTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTC TCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGT TCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2116		chr8	TogoVar
AZU1_chr19_822837_837018	835528	A A	AGCCCCCA others(566): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC AGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCATCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	391	0.0026	573	c.36 others(584): Show c.3651_*3652insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCATCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3511		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(566): Show ACAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGT ACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACAC CACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACTCATAG GGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGG ACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTG ACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACA CCACAGGGGCTAGAAGGACCTGGTGCCGACCACACCACACCATGGGCCAG AAGGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGT GCCGACACACCACACCAGGGGCTAGAAGGACCTGGTGCCGACACACCACA CCAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAA GGACCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0048 a0001c0004t0001g0048	1	266	0.0038	573	c.460 others(590): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTG GTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT ACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTT CTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTAT GAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGT GGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCG GGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(566): Show CAGCCCCTCCTCCTCTCCCAGCCCCCTCCTCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCC CCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCC AGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTC CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCC TCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTC CTCCAGCCCCTCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	334	0.0030	573	c.-10 others(584): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCCTCCTCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGC CCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAG CTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTC CTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(566): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCC CCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCC AGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTC CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCC TCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTC CTCCAGCCCCTCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	334	0.0030	573	c.-10 others(584): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGC CCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAG CTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTC CTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(566): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCC CCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCC AGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTC CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCC TCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTC CTCCAGCCCCTCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(96): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01167.hp1 HG01255.hp1 HG01258.hp1 HG01361.hp1 HG01517.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0000 a0001 a0000 a0001	a0000c0002 a0001c0001 a0000c0002 a0001c0001	a0000c0002t0022 a0001c0001t0002 a0001c0001t0008 others(22): Show a0000c0002t0022 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0086	a0000c0002t0022g0002 a0001c0001t0002g0002 a0001c0001t0008g0002 others(22): Show a0000c0002t0022g0002 a0001c0001t0002g0002 a0001c0001t0008g0002 a0001c0001t0009g0002 a0001c0001t0011g0002 a0001c0001t0012g0002 a0001c0001t0021g0002 a0001c0001t0022g0002 a0001c0001t0023g0002 a0001c0001t0031g0002 a0001c0001t0034g0002 a0001c0001t0035g0002 a0001c0001t0036g0002 a0001c0001t0037g0002 a0001c0001t0038g0002 a0001c0001t0040g0002 a0001c0001t0041g0002 a0001c0001t0042g0002 a0001c0001t0044g0002 a0001c0001t0045g0002 a0001c0001t0046g0002 a0001c0001t0047g0005 a0001c0001t0049g0002 a0001c0001t0051g0002 a0001c0001t0086g0002	99	334	0.2964	573	c.-10 others(584): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGC CCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAG CTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTC CTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(566): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCC CCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCC AGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTC CAGTCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCGGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCC TCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTC CTCCAGCCCCTCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02647.hp1 HG02970.hp1 HG02145.hp1 HG02647.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0068 a0001c0001t0024 a0001c0001t0068	a0001c0001t0024g0001 a0001c0001t0068g0006 a0001c0001t0024g0001 a0001c0001t0068g0006	3	334	0.0090	573	c.-10 others(584): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGC CCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAG CTCCTCCTCCTCCTCCAGTCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCG GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTC CTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(566): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATG GTGGTGATGGTGATGGTGACAGTGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03516.hp1 HG01099.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	2	292	0.0069	573	c.21 others(588): Show c.21-379_*21-378insATCACCACCATCACCACCATCACCATCACC ACCACCACCATCACCACCATCACTGTCACCATCACCATCACCACCATCAC CACCATCACCACCATCATCACCACCACCACCACCATCACCACCATCATCA CCATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCACC ACCATCACCGTCACCACCATCACCACCACCACCATCACCACCATCATCAC CATCACCACCACCATCACCACCACCATCACCACCATCATCACTATCACCA CCATCACCACCATCATCACCACCACCACCACCACCATCACCACCACCATC ACCACCATCACCATCACCACCATCATCACCACCACCGTCACCCCCATCAT TACCATCACCACCACCACCACCACCACCATGACCACCACCACCACCACTC TCACCATCATCATCACTGTCACCACCACCACCACCACCACCACCATCACT ACCATCGTCACCATCACCACTACCTCCATCTCCACCACTACCACCCCCAC CACCACTCTCACCACCATCACCATCACCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C20orf96_chr20_265863_295750	279062	G G	GGGAGGGA others(566): Show GGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACG GAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGCGGGACGGAGGGTGGGAGGGAGGGAGGGATGGAGGGAGGG CGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGACGGAGGGCGGGACGGCG GGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGACGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGG AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCG GGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGA GGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGG AGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGTGGGAGGGAGGGAG GGATGGAGGGAGGGCGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19011.hp2 HG00408.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0325 a0001c0003t0001g0340 a0001c0003t0001g0325 a0001c0003t0001g0340	2	410	0.0049	573	c.465 others(588): Show c.465+109_465+110insGTCCCGCCCGCCCTCCCTCCATCCCTCCCT CCCTCCCACCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTC CCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCT CCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCC CTCCGTCCCGCCCTCCCGCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCT CCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCC CTCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGT CCCGCCCTCCGTCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCGCCCTCC CTCCATCCCTCCCTCCCTCCCACCCTCCGTCCCGCCCTCCCTCCCTCCGT CCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCC TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279097	A A	AGGGAGGG others(566): Show AGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAG GGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGG AGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGG CGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAG GGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGG AGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGG GACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGC GGGAGGGATGGAGGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	410	0.0024	573	c.465 others(586): Show c.465+74_465+75insGCCCTCCCTCCCTCCATCCCTCCCGCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGT CCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCT CCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCG CCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCT CCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCC CGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C4orf50_chr4_5954375_6023431	6004446	G G	GTGATGAT others(566): Show GTGATGATGGTGATGATGTGATGGTGATGATGTTGATGATGGTGATGATG GTGATGGTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGAT GGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGTAATGG TGATGATGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGA TGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATATTGATGGTGATGATATTGATGGTGAT GATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATAGT TATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGG TGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGGTGA TGGTGATGATAGTGATGATGGTGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18964.hp1 NA19079.hp2 HG00673.hp2 NA18964.hp1 NA19079.hp2	a0003 a0097 a0003 a0097	a0003c0004 a0097c0088 a0003c0004 a0097c0088	a0003c0004t0000 a0097c0088t0000 a0003c0004t0000 a0097c0088t0000	a0003c0004t0000g0146 a0003c0004t0000g0192 a0097c0088t0000g0160 a0003c0004t0000g0146 a0003c0004t0000g0192 a0097c0088t0000g0160	3	346	0.0087	573	c.963 others(590): Show c.963+3549_963+3550insTCACCATCATCACTATCATCACCATCAC CATCATCACCATCATCACTATCATCACCATCACATCATCACCATCACCAT CATCACCATCATCACCATCATCAACATCATCACCATCACCATCATAACTA TCACCATCATCACCATCATCACCATCACATCATCACCATCACCATCATCA CCATCAATATCATCACCATCAATATCATCACCATCACCATCATCACCATC ACCATCATCACCATCATCACTATCATCACCATCACCATCATCACCATCAT CAGCATCACCATCACCACCACATCATCATCACCATCACCATCATCACCAT TACCATCACATCACCATCATCATCACCACCATCACCATCATCACCATCAC CATCATCACCATCACCATCATCATCACCATCACATCATCACCATCACCAT CATCACCATCACCATCATCACCATCATCACTATCATCACCATCACCATCA TCACCATCATCACCATCATCAACATCATCACCATCATCACCATCACCATC ATCACCATCATCAACATCATCACCATCACATCATCACCATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CALN1_chr7_71774491_72417338	72209402	T T	TTCCCTCT others(566): Show TTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCC TTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTTCCTTCCCTCCTTCCCTC TTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCT TCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCTTTCCTTCCC TCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTC CCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCC TCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCT TCCCTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0031	1	142	0.0070	573	c.244 others(592): Show c.244+69283_244+69284insGGGAAGGAAGGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAAAGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAA GGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(566): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00609.hp1 others(79): Show HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01175.hp2 HG01346.hp2 HG01433.hp2 HG01952.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02293.hp2 HG02602.hp1 HG02735.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18985.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0009 a0016 a0017	a0001c0001 a0001c0011 a0001c0015 others(5): Show a0001c0001 a0001c0011 a0001c0015 a0002c0002 a0007c0007 a0009c0009 a0016c0017 a0017c0019	a0001c0001t0001 a0001c0001t0003 a0001c0011t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0011t0001 a0001c0015t0001 a0002c0002t0001 a0007c0007t0001 a0009c0009t0001 a0016c0017t0001 a0017c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0026 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0271 a0001c0001t0001g0292 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0354 a0001c0001t0001g0424 a0001c0001t0001g0427 a0001c0001t0001g0434 a0001c0001t0003g0220 a0001c0011t0001g0110 a0001c0011t0001g0200 a0001c0011t0001g0204 a0001c0015t0001g0011 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0033 a0002c0002t0001g0056 a0002c0002t0001g0061 a0002c0002t0001g0070 a0002c0002t0001g0083 a0002c0002t0001g0141 a0002c0002t0001g0174 a0002c0002t0001g0219 a0002c0002t0001g0234 a0002c0002t0001g0256 a0002c0002t0001g0275 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0357 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0001g0366 a0002c0002t0001g0391 a0002c0002t0001g0437 a0007c0007t0001g0102 a0007c0007t0001g0198 a0007c0007t0001g0420 a0009c0009t0001g0435 a0009c0009t0001g0440 a0016c0017t0001g0140 a0017c0019t0001g0152	82	460	0.1783	573	c.193 others(590): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACATACACAGTCACATACAGACACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(566): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACGTACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0162 a0001c0011t0001g0162	1	460	0.0022	573	c.193 others(590): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACGTACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACATACACAGTCACATACAGACACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182041	C C	CCACACAC others(566): Show CCACACACACACATACACACTCACAGACACAACCACACCACACTCACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACTCACATACA GACACAACCACACCACACTCACACACACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACATACACACTCACATACAGACACAACCACAC CACACTCACACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACACATACACACTCACATACAGACACAACCACACCACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0314 a0007c0007t0001g0314	1	460	0.0022	573	c.193 others(590): Show c.1938+737_1938+738insCACTCACAGACACAACCACACCACACTC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACATACACACTCACATACAGACACAACCACACC ACACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CATACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(566): Show ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTC GCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCG CCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCTCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	410	0.0024	573	c.-22 others(590): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(566): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCTCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCCCTCTCCCCTCTCCCTCCCCTCCCC TCCCCTCTCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCC CTCCCTCCCCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	256	0.0039	573	c.-45 others(594): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCC CCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCTCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCTCCCCTCTCC CTCCCCTCCCCTCCCCTCTCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCTCCCCCCCTCCCCCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(566): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCT CCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCT TCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCC CCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCC CCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTT CTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCT TCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	354	0.0028	573	c.69 others(584): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTC CCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(566): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCTCTT CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCC TCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTC CCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCC TCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCC CCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCC TCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTC CTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCC CTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCT TCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0089 a0001c0001t0037g0089	1	270	0.0037	573	c.162 others(594): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCC TCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTC CCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCC TCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCC CCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCC TCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTC CCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCT CCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACT TCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTC CTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(566): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAATATATATAATTTTATATATTATATATAAATAT ATATATAATTTATATATAAATATATAAAATTATATATAAATATATATAAT TTATATATAAATATATATAATTTATATATATAAATAGATATAATTTTATA TATTTATTTATATAAATTTTATATATTTATATAAATAAATATATATTTAT ATATAAAAATTTATATACAAATATATATAAATATATACAAATATATATAT AAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	116	0.0086	573	c.56- others(590): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAATATATATAATT TTATATATTATATATAAATATATATATAATTTATATATAAATATATAAAA TTATATATAAATATATATAATTTATATATAAATATATATAATTTATATAT ATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTA TATAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATA AATATATACAAATATATATATAAATTTATATAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL18A1_chr21_45400165_45518720	45500816	G G	GGTGTGTA others(566): Show GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG TGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0220 a0001c0007t0002g0220	1	292	0.0034	573	c.268 others(592): Show c.2684-3164_2684-3163insGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTG TTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(566): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCATCCACCCA TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCACCCA TCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACC CACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCC CCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATC CCCCCACCCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCA CCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0316 a0001c0002t0002g0316	1	348	0.0029	573	c.13 others(584): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCAC CCATCCATCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCC ACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCAT CCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCC ATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACTCAC CCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(566): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGGAGAGAGGGAGGAATGGAGGAATGGAGGGATGG GGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGGAGGGGAGT GGAAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGG GAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAG GGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	216	0.0046	573	c.923 others(592): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCC CTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCAC TCCCCTCCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCC ATCCCTCCATTCCTCCATTCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DOCK8_chr9_209865_470255	400952	A A	ACCACCAC others(566): Show ACCACCACCACCACCTCCTCCACCATCACCACCTCCTTCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCAGCATCTTCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACCACCATCACCACCTCCTTCACCATCACCAC CTCCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCA TCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACC ATCACCACCTCCTTCACCATCACCACCTCCACCATCACCACCTCCTCCAC CATCACCACCTCCTCCACCATCACCACCATTAGCTCCACCATGACCACCT CCTTCACCATCACCACCATCACCT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0048 a0003c0001t0001g0048	1	256	0.0039	573	c.323 others(592): Show c.3234+1729_3234+1730insTCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCAC CTCCACCATCACCACCACCACCTCCACCACCACCACCACCTCCACCATCA CCACCACCACCATCACCACCTCCTTCACCATCACCACCTCCTCCACCATC ACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTC CACCACCACCACCACCTCCACCATCACCACCACCACCATCACCACCTCCT TCACCATCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCTCC TCCACCATCACCACCATTAGCTCCACCATGACCACCTCCTTCACCATCAC CACCATCACCTCCACCACCACCACCTCCTCCACCATCACCACCTCCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(566): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTC CTCCACTACCACCACCATCTTCACCATCACCACCACCACCTCCATCACCA CCACCTCCACCACCACCACCACCTCCATCACCACCACCACCACCACCACC ACCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCCTCACCACCTTCTCCACCA CCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATT ATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0011 a0011	a0011c0154 a0011c0154	a0011c0154t0001 a0011c0154t0001	a0011c0154t0001g0067 a0011c0154t0001g0067	1	256	0.0039	573	c.323 others(592): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCTCC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCA CCACCACCTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATC ACCACCACCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCAT CACCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCA CCATCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGC CCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DYSF_chr2_71448561_71691763	71618604	G G	GGTGTGTG others(566): Show GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT TGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGT GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTG TGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGTGTG TGTGTTTGTGTGGGGTAGAGTTGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	192	0.0052	573	c.441 others(592): Show c.4410+5197_4410+5198insTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT GTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGG TAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGG TAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGG TGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG TGTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)