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
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(195): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0021 a0003c0003t0002g0021	1	218	0.0046	202	c.32- others(215): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113449180	G G	GTCAGAGA others(195): Show GTCAGAGAGGCTCACCCGGAAGGAGGCAGCCCCAGTCAGAGAGGCTCACC CGGAAGGAGGCAGCCCCAGTCAGAGAGGCTCACCGGGAAGGAGGGACCCT GTTCAGAGAGACACACCCGGAAGGAGTGAGCCCCGGTCAGAGAGGCTCAC CCGGAAGGAGGGAGCCCTGTTCAGAGAGACACACCCGGAAGGAGGGACCC TGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03491.hp2 HG03492.hp2 others(1): Show HG01934.hp2 HG03491.hp2 HG03492.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0018 a0002c0002t0002 a0001c0001t0001 a0001c0001t0018 a0002c0002t0002	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0018g0126 others(1): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0018g0126 a0002c0002t0002g0092	4	262	0.0153	202	c.214 others(219): Show c.214+3842_214+4043dupACAGGGTCCCTCCTTCCGGGTGTGTCTC TCTGAACAGGGCTCCCTCCTTCCGGGTGAGCCTCTCTGACCGGGGCTCAC TCCTTCCGGGTGTGTCTCTCTGAACAGGGTCCCTCCTTCCCGGTGAGCCT CTCTGACTGGGGCTGCCTCCTTCCGGGTGAGCCTCTCTGACTGGGGCTGC CTCCTTCCGGGTGAGCCTCTCTGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	1/7			chr13	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(195): Show ATATAGTATATATATTCTATATACAGAATATATATACTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATATAGAATATATATATA GTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATAT AGAATATATATAATATATATTCTGTATATAGAATATATATACTATATTAA TTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01975.hp2 HG02273.hp1 others(1): Show HG01496.hp2 HG01975.hp2 HG02273.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0001 a0001c0001t0006 a0001c0001t0012	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0006g0233 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0006g0233 a0001c0001t0012g0235	4	236	0.0170	202	c.409 others(221): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATTATATATATTCTATATACAGAATATATATACTATA TATATTCTATATACAGAATATATATACTATATATATATTCTATATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530285	T T	TATTCTAT others(195): Show TATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATATT CTATATACGTATTTCCATATATTCTATATACGTATTTCCATATAGATATT CTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGA TATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATA TAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	236	0.0042	202	c.409 others(221): Show c.409+14486_409+14487insCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTAT ATAGAATATATGGAAATACGTATATAGAATATATGGAAATACGTATATAG AATATATGGAAATACGTATATAGAAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	420817	C C	CCACGCAG others(195): Show CCACGCAGCACGCCCAGACCCACGCACGCAGCCACCCACCCACGCAGCAC GCCCAGACCCACACACGCAGCCACCCACCCACGCAGCACGCCCAGACCCA CGCACGCAGCCACCCACCCACGCAGCACGCACAGACCCACGCACGCAGCA CGCACAGACCCACGCACGCAGCCACCCACCCACGCAGCACGCACAGACCC ACG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0095 a0002c0002t0006g0095	1	268	0.0037	202	c.442 others(219): Show c.442-1904_442-1903insACGCCCAGACCCACGCACGCAGCCACCC ACCCACGCAGCACGCCCAGACCCACACACGCAGCCACCCACCCACGCAGC ACGCCCAGACCCACGCACGCAGCCACCCACCCACGCAGCACGCACAGACC CACGCACGCAGCACGCACAGACCCACGCACGCAGCCACCCACCCACGCAG CACGCACAGACCCACGCACGCAGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	420817	C C	CCACGCAG others(195): Show CCACGCAGCACGCCCAGACCCACGCACGCAGCCACCCACCCACGCAGCAC GCCCAGACCCACGCACGCAGCCACCCACCCACGCAGCACGCCCAGACCCA CGCACGCAGCCACCCACCCACGCAGCACGCACAGACCCACGCACGCAGCA CGCACAGACCCACGCACGCAGCCACCCACCCACGCAGCACGCACAGACCC ACG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(130): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18983.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19043.hp2 NA19058.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0015	a0001c0001 a0001c0009 a0002c0002 others(13): Show a0001c0001 a0001c0009 a0002c0002 a0002c0011 a0002c0019 a0003c0004 a0004c0003 a0005c0005 a0006c0006 a0007c0007 a0008c0013 a0009c0022 a0010c0020 a0011c0021 a0012c0018 a0015c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0045 a0001c0001t0046 a0001c0009t0036 a0002c0002t0001 a0002c0002t0006 a0002c0002t0010 a0002c0002t0011 a0002c0002t0019 a0002c0002t0026 a0002c0002t0043 a0002c0002t0044 a0002c0002t0047 a0002c0002t0049 a0002c0002t0051 a0002c0002t0052 a0002c0011t0001 a0002c0019t0001 a0003c0004t0004 a0003c0004t0054 a0004c0003t0001 a0004c0003t0007 a0004c0003t0009 a0004c0003t0010 a0004c0003t0014 a0004c0003t0018 a0004c0003t0023 a0004c0003t0027 a0004c0003t0034 a0005c0005t0008 a0005c0005t0015 a0006c0006t0021 a0006c0006t0030 a0006c0006t0031 a0007c0007t0023 a0007c0007t0035 a0008c0013t0001 a0009c0022t0001 a0010c0020t0001 a0011c0021t0019 a0012c0018t0017 a0015c0016t0015	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 others(130): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0002g0058 a0001c0001t0002g0178 a0001c0001t0002g0196 a0001c0001t0006g0037 a0001c0001t0006g0262 a0001c0001t0007g0219 a0001c0001t0017g0034 a0001c0001t0017g0264 a0001c0001t0018g0086 a0001c0001t0018g0106 a0001c0001t0027g0153 a0001c0001t0045g0026 a0001c0001t0046g0252 a0001c0009t0036g0033 a0002c0002t0001g0010 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0067 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0091 a0002c0002t0001g0101 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0116 a0002c0002t0001g0121 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0216 a0002c0002t0001g0255 a0002c0002t0006g0008 a0002c0002t0006g0020 a0002c0002t0006g0047 a0002c0002t0006g0076 a0002c0002t0006g0079 a0002c0002t0006g0120 a0002c0002t0006g0144 a0002c0002t0006g0209 a0002c0002t0006g0218 a0002c0002t0010g0015 a0002c0002t0010g0096 a0002c0002t0010g0145 a0002c0002t0010g0207 a0002c0002t0011g0022 a0002c0002t0011g0040 a0002c0002t0011g0163 a0002c0002t0011g0197 a0002c0002t0011g0213 a0002c0002t0019g0007 a0002c0002t0019g0211 a0002c0002t0026g0119 a0002c0002t0026g0136 a0002c0002t0043g0166 a0002c0002t0044g0046 a0002c0002t0047g0077 a0002c0002t0049g0160 a0002c0002t0051g0097 a0002c0002t0052g0194 a0002c0011t0001g0085 a0002c0019t0001g0134 a0003c0004t0004g0164 a0003c0004t0004g0169 a0003c0004t0004g0183 a0003c0004t0004g0204 a0003c0004t0054g0165 a0004c0003t0001g0083 a0004c0003t0007g0221 a0004c0003t0007g0230 a0004c0003t0007g0235 a0004c0003t0007g0237 a0004c0003t0007g0246 a0004c0003t0007g0266 a0004c0003t0009g0224 a0004c0003t0009g0232 a0004c0003t0009g0233 a0004c0003t0009g0245 a0004c0003t0009g0248 a0004c0003t0010g0157 a0004c0003t0014g0220 a0004c0003t0014g0236 a0004c0003t0014g0240 a0004c0003t0014g0244 a0004c0003t0018g0098 a0004c0003t0023g0228 a0004c0003t0027g0092 a0004c0003t0034g0229 a0005c0005t0008g0036 a0005c0005t0008g0049 a0005c0005t0008g0056 a0005c0005t0008g0057 a0005c0005t0008g0060 a0005c0005t0008g0061 a0005c0005t0008g0108 a0005c0005t0015g0118 a0005c0005t0015g0182 a0006c0006t0021g0231 a0006c0006t0021g0234 a0006c0006t0030g0241 a0006c0006t0031g0226 a0007c0007t0023g0225 a0007c0007t0035g0222 a0008c0013t0001g0021 a0009c0022t0001g0023 a0010c0020t0001g0170 a0011c0021t0019g0111 a0012c0018t0017g0265 a0015c0016t0015g0189	133	268	0.4963	202	c.442 others(219): Show c.442-1904_442-1903insACGCCCAGACCCACGCACGCAGCCACCC ACCCACGCAGCACGCCCAGACCCACGCACGCAGCCACCCACCCACGCAGC ACGCCCAGACCCACGCACGCAGCCACCCACCCACGCAGCACGCACAGACC CACGCACGCAGCACGCACAGACCCACGCACGCAGCCACCCACCCACGCAG CACGCACAGACCCACGCACGCAGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(195): Show TATACATATATAAATATATATATACATATATAAATATATATATACATATA TAAATATATATATACATATATAAATATATATACATATATAAATATATATA TACATATATAAATATATATACATATATAAATATATATACATATATAAATA TATATACATATATAAATATATATATACATATATAAATATATATACATATA TAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	462	0.0022	202	c.151 others(219): Show c.151+5682_151+5683insTTATATATGTATATATATTTATATATGT ATATATATATTTATATATGTATATATATTTATATATGTATATATATTTAT ATATGTATATATATTTATATATGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATATTTATATATGTATATATATATTTATATAT GTATATATATATTTATATATGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(195): Show TATACATATATAAATATATATATACATATATAAATATATATATACATATA TAAATATATATATACATATATAAATATATATACATATATAAATATATATA TACATATATAAATATATATACATATATAAATATATATATACATATATAAA TATATATACATATATAAATATATATACATATATAAATATATATACATATA TAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18612.hp1 NA18944.hp1 others(8): Show HG01993.hp2 NA18612.hp1 NA18944.hp1 NA18969.hp1 NA18971.hp2 NA18981.hp1 NA18982.hp2 NA19001.hp1 NA19006.hp1 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 others(8): Show a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0266 a0001c0001t0003g0271 a0001c0001t0003g0328 a0001c0001t0021g0439	11	462	0.0238	202	c.151 others(219): Show c.151+5682_151+5683insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATATTTAT ATATGTATATATATTTATATATGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATATTTATATATGTATATATATATTTATATAT GTATATATATATTTATATATGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATAAC others(195): Show TATATAACATGTTATATATATTATATATAACATGTTATATATATTATATA TAACATGTTATATATATTATATATAACATGTTATATATAATATATATGTT ATATATTATATATAATATATGTTATATATTATATATAATATATGTTATAT ATAATATATATAACATATGTTATATATAATATATATAATATATGTGATAT ATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0106 a0001c0001t0007g0106	1	284	0.0035	202	c.891 others(221): Show c.891+27342_891+27343insCATGTTATATATATTATATATAACAT GTTATATATATTATATATAACATGTTATATATATTATATATAACATGTTA TATATAATATATATGTTATATATTATATATAATATATGTTATATATTATA TATAATATATGTTATATATAATATATATAACATATGTTATATATAATATA TATAATATATGTGATATATAATATAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(195): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGGAGGGGGGGGGAGGGGG GAGAGGGGAGAGGGGAGAGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGG GAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGAGAGGGG AGA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	356	0.0028	202	c.667 others(217): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCTCTCCCCTCTCCCCTCTCCCCCCTCCCCCCCCCTCCCCCTCCCCC TTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTC TCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANGEL1_chr14_76781009_76817882	76793397	G G	GGAGAGGG others(195): Show GGAGAGGGGGAGAGGGAGGGGAGGGTAGGGGAGGGGAGGGGAGAGGAGGG GAGGGGGAGGGGAGAGGAGGGGAGGGGAGAGGAGGGGGAGGGGAGAGGAG GGGAGGGAGGAGGGGAGAGGAGGGGAGGGGAGGGGGAGGAGGGAGGGGAG GGGAGGGAGAGGAGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGGAGG GGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	396	0.0025	202	c.161 others(221): Show c.1619-2032_1619-2031insTCCCCTCCCCCTCCCCTCCCCTCCTC TCCCCTCCCCTCCCTCCTCTCCCTCCCCTCCCCTCCCTCCTCCCCCTCCC CTCCCCTCCTCTCCCCTCCTCCCTCCCCTCCTCTCCCCTCCCCCTCCTCT CCCCTCCCCTCCTCTCCCCTCCCCCTCCCCTCCTCTCCCCTCCCCTCCCC TACCCTCCCCTCCCTCTCCCCCTCTC	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/9			chr14	TogoVar
ANKRD62_chr18_12088843_12134764	12094523	C C	CTGTGGTG others(195): Show CTGTGGTGGGGGTAGAGTTGGGTGAGGGACTGTGGTGGGGAGTGGAGTGA GGGTGGGTTGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGGGACT GTGGTGGGGGTAGAGTTGGGTGGGGGACTGTATTAGGAGGTGGAGTTGGG TGGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGGGA CTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp1 others(69): Show HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp2 HG01981.hp1 HG02055.hp2 HG02109.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03492.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18940.hp2 NA18946.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19065.hp2 NA19068.hp2 NA19083.hp2 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0012	a0002c0003 a0002c0012 a0003c0004 others(4): Show a0002c0003 a0002c0012 a0003c0004 a0004c0005 a0005c0006 a0005c0019 a0012c0017	a0002c0003t0016 a0002c0003t0032 a0002c0003t0035 others(11): Show a0002c0003t0016 a0002c0003t0032 a0002c0003t0035 a0002c0012t0016 a0003c0004t0003 a0003c0004t0006 a0003c0004t0013 a0004c0005t0003 a0004c0005t0006 a0005c0006t0006 a0005c0006t0021 a0005c0006t0038 a0005c0019t0006 a0012c0017t0003	a0002c0003t0016g0037 a0002c0003t0032g0096 a0002c0003t0035g0037 others(35): Show a0002c0003t0016g0037 a0002c0003t0032g0096 a0002c0003t0035g0037 a0002c0012t0016g0041 a0003c0004t0003g0001 a0003c0004t0003g0009 a0003c0004t0003g0018 a0003c0004t0003g0028 a0003c0004t0003g0036 a0003c0004t0003g0039 a0003c0004t0003g0042 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0082 a0003c0004t0003g0084 a0003c0004t0003g0087 a0003c0004t0003g0090 a0003c0004t0003g0091 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0006g0040 a0003c0004t0013g0078 a0003c0004t0013g0079 a0004c0005t0003g0001 a0004c0005t0003g0088 a0004c0005t0003g0092 a0004c0005t0006g0001 a0004c0005t0006g0089 a0005c0006t0006g0038 a0005c0006t0006g0085 a0005c0006t0006g0086 a0005c0006t0021g0083 a0005c0006t0021g0097 a0005c0006t0021g0098 a0005c0006t0038g0077 a0005c0019t0006g0038 a0012c0017t0003g0018	72	392	0.1837	202	c.218 others(217): Show c.218+290_218+291insTGGTGGGGGTAGAGTTGGGTGAGGGACTGT GGTGGGGAGTGGAGTGAGGGTGGGTTGGGGTGGAGGACTGGTGGGGGGTG GGATGGGGTGGGGGACTGTGGTGGGGGTAGAGTTGGGTGGGGGACTGTAT TAGGAGGTGGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGGTGGGGGG TGGGATGGGGTGGGGGACTGTG	ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(195): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTC TTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCTTTCTTCCT CCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp1 HG03579.hp1 HG02257.hp1 HG03209.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0016 a0001c0003t0002 a0001c0003t0004 a0001c0003t0016	a0001c0003t0002g0008 a0001c0003t0004g0035 a0001c0003t0016g0036 a0001c0003t0002g0008 a0001c0003t0004g0035 a0001c0003t0016g0036	3	48	0.0625	202	c.252 others(223): Show c.2526+14945_2526+14946insGGGAGGAAGAAAGGAAGGAAGAAA GGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAGGAAAGGAAAGAA AGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAGGAG GGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGG GAGAAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(195): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAG GGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGT GGGTATCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCT GGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCT GCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	286	0.0035	202	c.539 others(217): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACG CCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATA CCCGCGGACGCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(195): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGG GGCTCCCGCGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTG CAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	286	0.0035	202	c.539 others(217): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431443	G G	GGGGGTGT others(195): Show GGGGGTGTAGGGGCTCCCGCGGGTACCTGGGGGCGTCTGCGGGGGTGTGG GGGCTCCCGTGGGTATCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCC GCGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCT GGGGGCTTCTGCAAGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCC GCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0014 a0001c0006t0003g0014	1	286	0.0035	202	c.539 others(217): Show c.539+250_539+251insTGCGGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCTTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCC CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGGTA CCCGCGGGAGCCCCTACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
AOC2_chr17_42839580_42855707	42848524	A A	AATATATA others(195): Show AATATATATATACATATATATATATATATGTATATATATATATATACATG TATATATATATATGTATATATATATATATACATGTATATATATATATGTA TATATATATATATACATGTATATATATATATACGTATATATATATATACA TGTATATATATATATGTATATATATATATATACATGTATATATATATATA CGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	290	0.0035	202	c.158 others(219): Show c.1589-551_1589-550insCATATATATATATATATGTATATATATA TATATACATGTATATATATATATGTATATATATATATATACATGTATATA TATATATGTATATATATATATATACATGTATATATATATATACGTATATA TATATATACATGTATATATATATATGTATATATATATATATACATGTATA TATATATATACGTATATATATATA	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC3_chr17_42846199_42863124	42848524	A A	AATATATA others(195): Show AATATATATATACATATATATATATATATGTATATATATATATATACATG TATATATATATATGTATATATATATATATACATGTATATATATATATGTA TATATATATATATACATGTATATATATATATACGTATATATATATATACA TGTATATATATATATGTATATATATATATATACATGTATATATATATATA CGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0008 a0002c0007t0002g0008	1	284	0.0035	202	c.-28 others(213): Show c.-2820_-2819insATATATATATACATATATATATATATATGTATAT ATATATATATACATGTATATATATATATGTATATATATATATATACATGT ATATATATATATGTATATATATATATATACATGTATATATATATATACGT ATATATATATATACATGTATATATATATATGTATATATATATATATACAT GTATATATATATATACGT	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding		2674		chr17	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(195): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATAATATATATTATATATAATTGTATATATAAT ATATATTATATATATAATTGTATATATAATATATATTATATATATAATTG TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	384	0.0026	202	c.-12 others(213): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATAATATATATTATATAT AATTGTATATATAATATATATTATATATATAATTGTATATATAATATATA TTATATATATAATTGTAT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
APOOL_chrX_84998877_85098315	85088095	T T	TACATATT others(195): Show TACATATTTATACATATATGTATACATACGTATTTATACATATATATGTA TAAATACGTATTTATACATATATATGTATAAATACATACATATTTATACA TATATATGTATAAATACATACATATATATGTATAAATACATACATATTTA TACATATATATGTATAAATACATACATATTTATACATATATATGTATAAA TAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0236 a0001c0001t0034g0236	1	256	0.0039	202	c.41 others(211): Show c.418_*419insCATATTTATACATATATGTATACATACGTATTTATA CATATATATGTATAAATACGTATTTATACATATATATGTATAAATACATA CATATTTATACATATATATGTATAAATACATACATATATATGTATAAATA CATACATATTTATACATATATATGTATAAATACATACATATTTATACATA TATATGTATAAATACA	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	419	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGDIG_chr16_275591_288010	285931	C C	CCCCAACC others(195): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCC AACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCCAACCCCAACCCAA CCCCAACCCCAACCCCAACCCAACCCCAACCCCAACCCCAACCCCAACCC CAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA19089.hp2 NA18959.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0002 a0001c0001t0019g0002 a0001c0001t0001g0002 a0001c0001t0019g0002	2	442	0.0045	202	c.31 others(213): Show c.3117_*3118insCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAA CCCCAACCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCAACC CCAACCCCAACCCAACCCCAACCCCAACCCCAACCCAACCCCAACCCCAA CCCCAACCCCAACCCCAA	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2922		chr16	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(195): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCATCCCCCCTC CCCCTCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCCTCTCCCCCTC CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCC CCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	264	0.0038	202	c.102 others(219): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCCC TCCCCCTCCCCATCCCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCCCCT CCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(195): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCA CCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCC CCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	264	0.0038	202	c.102 others(219): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCACCTCCCCCTCCCGCTCCCCCTCCCCCTCC CCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASMTL_chrX_1398139_1457909	1430998	T T	TAAATATA others(195): Show TAAATATATAAAATAAACATATATTTTATACAAATGTATTCATATACATA TATTTATATATTTATATACTTTTATAATATAAAAATATATTTTATATAAT TATATATTTATATAACACATAATACATTATATATTATATATAATTAATAT GTATTACATATATTTAATTAATATATAATTTACATATAATCACACTTAAT TTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0001 a0005c0027t0001	a0005c0027t0001g0175 a0005c0027t0001g0175	1	185	0.0054	202	c.509 others(219): Show c.509+1270_509+1271insTAAATTAAGTGTGATTATATGTAAATTA TATATTAATTAAATATATGTAATACATATTAATTATATATAATATATAAT GTATTATGTGTTATATAAATATATAATTATATAAAATATATTTTTATATT ATAAAAGTATATAAATATATAAATATATGTATATGAATACATTTGTATAA AATATATGTTTATTTTATATATTT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	6/12			chrX	TogoVar
ATP11A_chr13_112685038_112892168	112804042	T T	TCCCTTCC others(195): Show TCCCTTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTC CCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCT TCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTC CCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCC TTC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0096 a0001c0002t0030g0096	1	254	0.0039	202	c.163 others(217): Show c.163-911_163-910insTCCTTTTCCTCCTTTCTTCCCTTCCTTCCC TCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCC CCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCC TCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATC CCCTCTCTGCCCTCCTTCCCCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79357292	C C	CGTGTGAG others(195): Show CGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAG GGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGT GCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTG TCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02809.hp1 others(2): Show HG02572.hp1 HG02717.hp2 HG02809.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0014 a0001c0011 a0001c0014	a0001c0011t0006 a0001c0014t0006 a0001c0011t0006 a0001c0014t0006	a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 others(2): Show a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0014t0006g0017 a0001c0014t0006g0093	5	298	0.0168	202	c.290 others(221): Show c.2904-2039_2904-2038insATGCTCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAG GGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGT GCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTG TCTGTGTGAGGGACCCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357382	C C	CCTGTGTG others(195): Show CCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTG TGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGG TCTAGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTG GAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGG TGT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19043.hp1 NA19001.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0035 a0001c0001t0001g0091	2	298	0.0067	202	c.290 others(221): Show c.2904-1961_2904-1960insATGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAG GGGTGTCCTGGGTCTAGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGT GCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCCC TGGGTCTGGAGGTGTCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357522	C C	CCTGGGTC others(195): Show CCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTC CGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTC TGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAG GGGTGCTCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGT GCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(8): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG02109.hp1 HG02293.hp2 HG02735.hp2 HG03540.hp2 HG06807.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0008 a0004c0036 a0001c0006 a0004c0008 a0004c0036	a0001c0006t0007 a0004c0008t0001 a0004c0036t0001 a0001c0006t0007 a0004c0008t0001 a0004c0036t0001	a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 others(7): Show a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 a0004c0008t0001g0001 a0004c0008t0001g0269 a0004c0008t0001g0270 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271	11	298	0.0369	202	c.290 others(221): Show c.2904-1734_2904-1733insCTGAGGGGTGCCCTGGGTCTGGAGGT GTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCC GTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGT GAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGG GATGCTCTGGGTCTGGAGGTGTCTGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357630	G G	GCCCTGGG others(195): Show GCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTC TGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGG TCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTG AGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGG GTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG00735.hp2 others(4): Show HG00323.hp2 HG00733.hp1 HG00735.hp2 HG01123.hp2 HG01517.hp2 HG02300.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(4): Show a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164	7	298	0.0235	202	c.290 others(221): Show c.2904-1659_2904-1658insCGTGTGAGGGACCCTGTGTGAGGGGT GCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTG TCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTG TGTGAGGGGTTCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTG AGGGGTGCTCTGGGTCTGGAGGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358054	C C	CGTGTGAG others(195): Show CGTGTGAGGAACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTG TGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAG GGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGA GGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTG TCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG00735.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0051 a0001c0001t0001g0021 a0001c0001t0001g0051	2	298	0.0067	202	c.290 others(221): Show c.2904-1292_2904-1291insAACCCTGTGTGAGGGGTGCCCTGGGT CTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGA GGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGG TGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCC CTGGGTCTGGAGGTGTCTGTGTGAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358316	C C	CCTGGGTC others(195): Show CCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGATGCCCTG GGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGATGCCCTGGGTCTGGAGGTGTCTGTGTGAG GGGTGTCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGT GCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0014t0006g0017 a0001c0014t0006g0093	2	298	0.0067	202	c.290 others(221): Show c.2904-1011_2904-1010insACCCTGTGTGAGGGATGCCCTGGGTC TGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAG GGACCCTGTGTGAGGGATGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGT GTCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTC TGGGTCTGGAGGTGTCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN7L1_chr7_105599772_105881599	105733678	C C	CCATCCAC others(195): Show CCATCCACATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCAT CCACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGTCC ATCCATCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCCAC CCATCCATCCATCCATCCATCCATCCATTCATCCATCCACCCATCCATCC ATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0083 a0001c0001t0014g0083	1	252	0.0040	202	c.355 others(221): Show c.355+54925_355+54926insAATGGATGGATGGGTGGATGGATGAA TGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATG GGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGA TGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATG AATGGATGGATGGGTGGATGTGGATG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AXDND1_chr1_179360971_179559735	179429004	C C	CGTCTCTA others(195): Show CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCC GACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0308 a0004c0005t0001g0308	1	356	0.0028	202	c.123 others(219): Show c.1231-514_1231-513insGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25			chr1	TogoVar
AXIN1_chr16_282440_357723	285931	C C	CCCCAACC others(195): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCC AACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCCAACCCCAACCCAA CCCCAACCCCAACCCCAACCCAACCCCAACCCCAACCCCAACCCCAACCC CAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0020 a0001c0014t0020	a0001c0014t0020g0071 a0001c0014t0020g0071	1	378	0.0027	202	c.21 others(213): Show c.2190_*2191insTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGG GTTGGGGTTGGGGTTGGGGTTGGGTTGGGGTTGGGGTTGGGTTGGGGTTG GGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCG CGGGGTTGGTGTTGGGGTTGGGGTTGGGTTGGGGTTGGGGTTGGGGTTGG GAGAACCGCGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1508		chr16	TogoVar
B4GALNT4_chr11_364499_387117	374748	A A	AAGGGAGG others(195): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	184	0.0054	202	c.784 others(217): Show c.784-687_784-686insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGG AGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(195): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAAGGAG AGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGGAGG GGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGGAGGGAGAGGGGGAGGGA GATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGG GGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	298	0.0034	202	c.51+ others(215): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCCTCTCC CCCTCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCCTCCC CCTCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(195): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGGAGGGA GATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGATGGACTGG GGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0232 a0001c0004t0003g0232	1	298	0.0034	202	c.51+ others(215): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCCTCCCCTCCCCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATCCCCCCT CTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCCCCCTCC CCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(195): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGGGA GATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGATGGACTGG GGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp1 HG01074.hp2 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0240 a0001c0004t0003g0241 a0001c0004t0003g0240 a0001c0004t0003g0241	2	298	0.0067	202	c.51+ others(215): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATCCCCCCT CTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCCCCCTCC CCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(195): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGG GAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGGGA GATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGATGGACTGG GGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0293 a0001c0004t0003g0293	1	298	0.0034	202	c.51+ others(215): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATCCCCCCTC TCCCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCCCCCTCC CCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(195): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGGGAG GGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGAGGGGAGGGAGGGGG AGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGGGA GATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGATGGACTGG GGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0252 a0001c0007t0003g0252	1	298	0.0034	202	c.51+ others(215): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCATCCCCATCC CCCCTCTCCCTCCCCCTCCCCCTCCCCCCCCTCTCCCTCCCTCCCCCTCC CCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(195): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATTATATATATATTTATAT ATATATATATTATATATATTTATATATATATATATTATATATATATTTAT ATATATATTATATATATATTTATATATATATATATTATATATATATTTAT ATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0081 a0006c0006t0001g0081	1	216	0.0046	202	c.-2- others(219): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATAAATATATATATAATATATATAT ATATAAATATATATAATATATATATATATAAATATATATATAATATATAT AAATATATATATAATATATATATATAAAAATATATATATTATATATATAT ATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(195): Show ATATATTTATAATAAATATTATATATTATATATTTATTATAAATATTATA TATTATATATTTATAATAAATATTATATATTATATATTTATTATAAATAT TATATATTATATTTATAATAAATATTATATATTATATATTATATTTATAA TAAATATAATATATTATATATTATATTTATTATAAATATTATATATTATA TAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0165 a0001c0001t0006g0165	1	290	0.0035	202	c.426 others(221): Show c.426+35691_426+35692insTATTATAAATATTATATATTATATAT TTATAATAAATATTATATATTATATATTTATTATAAATATTATATATTAT ATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATAAT ATATTATATATTATATTTATTATAAATATTATATATTATATATTATATTT ATAATAAATATTATATATTATATATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRF1_chr14_105204286_105306001	105233249	A A	AGCAACAA others(195): Show AGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTA GTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCCGTGGCACCCTCA GGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCG TAGTCGCCCAGCTGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTC AGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	72	0.0139	202	c.695 others(219): Show c.695-4337_695-4336insCCTGAGGGTGCCACGGGGCTGCCAGGCT GTCCCCCGCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTC TCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGC TGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTC TCTCCTGAGATGCTAGGTTGTTGC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCCCC others(195): Show CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCC CCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	330	0.0030	202	c.431 others(219): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(195): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01258.hp1 others(31): Show HG00423.hp2 HG00673.hp1 HG01258.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG03710.hp1 HG04184.hp2 HG04204.hp1 NA18942.hp1 NA18946.hp2 NA18954.hp2 NA18965.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp2 NA19000.hp2 NA19001.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0014 a0006c0011 a0001c0001 a0003c0014 a0006c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0003c0014t0002 a0006c0011t0002	a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0238 others(31): Show a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0003g0185 a0001c0001t0008g0233 a0001c0001t0008g0234 a0003c0014t0002g0255 a0006c0011t0002g0304	34	330	0.1030	202	c.431 others(219): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(195): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTG CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC CGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02809.hp1 others(3): Show HG02257.hp2 HG02615.hp2 HG02809.hp1 HG02976.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0002t0001g0127 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0139 a0001c0002t0001g0160	6	330	0.0182	202	c.431 others(219): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTGCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCGT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(195): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC CGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	330	0.0030	202	c.431 others(219): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCGT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCTCCTC others(195): Show CTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC CCT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp2 HG02273.hp2 others(3): Show HG01928.hp1 HG01952.hp2 HG02273.hp2 HG02683.hp2 NA18952.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0169 others(3): Show a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0259 a0001c0001t0002g0271 a0001c0001t0002g0283	6	330	0.0182	202	c.431 others(219): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCTCCTC others(195): Show CTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC CCT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19066.hp1 NA18939.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0241 a0001c0001t0002g0246	2	330	0.0061	202	c.431 others(219): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTBD2_chr19_1980448_2020714	2015820	A A	AGGAGGAA others(195): Show AGGAGGAAGGGAGGGAGGAGGGAGGGGAGAGGGAGGGGGAGCGGAAGGAG GGAGGGGAGGAGGGAGGGAGGGGGAAAGGAGGGGAAGAGGGAGGGGAGAG AGGGAGGGGAAAGGAGGGGGAAGGAGGGAGGGGAGGAGGAGGGAGGAGGG AAGGAGGGGGAAGGAGGGAGGAGAGGGAGGGGAGAGGAGGGGGAGGGAGG GGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	364	0.0028	202	c.-11 others(211): Show c.-118_-117insCCCCCTCCCTCCCCCTCCTCTCCCCTCCCTCTCCTC CCTCCTTCCCCCTCCTTCCCTCCTCCCTCCTCCTCCCCTCCCTCCTTCCC CCTCCTTTCCCCTCCCTCTCTCCCCTCCCTCTTCCCCTCCTTTCCCCCTC CCTCCCTCCTCCCCTCCCTCCTTCCGCTCCCCCTCCCTCTCCCCTCCCTC CTCCCTCCCTTCCTCC	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		107		chr19	TogoVar

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