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
RIMBP2_chr12_130391133_130721299	130646094	TCCACCTC others(269): Show TCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCA CTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACC TCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCTCCCTCACCACCTG CCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCTCCC TCACCACCTCCCTCACCACCTCCCTCA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01071.hp2 others(4): Show HG00280.hp1 HG01070.hp1 HG01071.hp2 HG02622.hp1 HG02818.hp2 HG03471.hp2 HG03710.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0043 others(1): Show a0001c0001 a0001c0002 a0001c0043 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0043t0001 a0005c0013t0003	a0001c0001t0001g0025 a0001c0001t0001g0146 a0001c0001t0002g0091 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0146 a0001c0001t0002g0091 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0043t0001g0108 a0005c0013t0003g0141	7	180	0.0389	-276	c.-35 others(21): Show c.-351-17914_-351-17639del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNF213_chr17_80255852_80403794	80260541	CCGGCGGC others(269): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGG CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGG CGGCGGCGGGCAGGGCGGGGCCGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0096 a0002c0002t0005g0096	1	292	0.0034	-276	c.-46 others(9): Show c.-469_-194del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding		310		chr17	TogoVar
RNF213_chr17_80255852_80403794	80314328	ATGGTGGT others(269): Show ATGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGA GGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTAC TGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTG GAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGT GGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGG TGGTGGTGGAGGTAATGGAGGTGATGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03688.hp1 HG03704.hp2 others(3): Show HG00673.hp1 HG03688.hp1 HG03704.hp2 NA18950.hp2 NA18966.hp2 NA19004.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0072	a0001c0001 a0001c0053 a0002c0027 others(2): Show a0001c0001 a0001c0053 a0002c0027 a0007c0008 a0072c0067	a0001c0001t0001 a0001c0001t0002 a0001c0053t0029 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0053t0029 a0002c0027t0007 a0007c0008t0003 a0072c0067t0008	a0001c0001t0001g0264 a0001c0001t0002g0153 a0001c0053t0029g0205 others(3): Show a0001c0001t0001g0264 a0001c0001t0002g0153 a0001c0053t0029g0205 a0002c0027t0007g0064 a0007c0008t0003g0199 a0072c0067t0008g0206	6	292	0.0206	-276	c.281 others(19): Show c.2811+1447_2811+1722del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	303477	CAGGGAGG others(269): Show CAGGGAGGAAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTTTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTTTCAGGAAAGAGATGGGGAGGGAGGGAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTCTCAGGAAAGAGGTGGGG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02135.hp2 NA18940.hp2 others(5): Show HG02080.hp1 HG02135.hp2 NA18940.hp2 NA18959.hp2 NA18995.hp1 NA18999.hp2 NA19005.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0012 a0001c0001t0014 a0001c0004t0001 others(2): Show a0001c0001t0012 a0001c0001t0014 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026	a0001c0001t0012g0053 a0001c0001t0014g0023 a0001c0004t0001g0046 others(5): Show a0001c0001t0012g0053 a0001c0001t0014g0023 a0001c0004t0001g0046 a0001c0004t0001g0050 a0001c0004t0001g0062 a0001c0004t0001g0078 a0001c0004t0004g0014 a0001c0004t0026g0013	8	133	0.0602	-276	c.351 others(19): Show c.351+15667_351+15942del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	303891	GAGGGAGG others(269): Show GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTTTCAGGAAAG AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTCTCAGGAAAGAGTGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02027.hp1 NA19056.hp2 HG01943.hp1 HG02027.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0111 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0002g0111 a0001c0001t0004g0008 a0001c0001t0004g0021	3	133	0.0226	-276	c.351 others(19): Show c.351+15253_351+15528del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS6KA6_chrX_84053350_84193199	84191687	TATATATA others(269): Show TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0097 a0002c0002t0098 a0002c0002t0097 a0002c0002t0098	a0002c0002t0097g0161 a0002c0002t0098g0160 a0002c0002t0097g0161 a0002c0002t0098g0160	2	272	0.0074	-276	c.-40 others(11): Show c.-4064_-3789del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3489		chrX	TogoVar
SCAMP4_chr19_1900399_1931013	1923736	AGCCTCCC others(269): Show AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCGCACCTGGCTAA TTATTTTGTTTTTGTATTTTTGGTAGAGACAGGTTTTCACCGTGTTAGCC AGGATGGTCTCAATCTCCTGACCTCGTGATCCTCCCGCCTCGGCCTCCCG AAGTGCTGGGATGACAGGCGTGAGCCACCGTGCCCGGCCTATTTTTTATA TTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTC CAGAGCTCAGACAGTCTGTCTGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG03098.hp2 HG02258.hp1 HG02922.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0081 a0001c0001t0010g0008 a0001c0001t0010g0081	3	442	0.0068	-276	c.514 others(14): Show c.514-362_514-87del	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SLC9A3_chr5_465456_529449	467880	ATGTCTGA others(269): Show ATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTAT CTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGA CATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCCTGTCTGACATC CCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCT CAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGC CTGGAGGGCGCCCTCCTGATCCCCTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG03471.hp2 HG04115.hp2 others(3): Show HG01517.hp2 HG03471.hp2 HG04115.hp2 NA18522.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0019 a0003c0032	a0001c0001t0021 a0001c0003t0009 a0001c0009t0009 others(2): Show a0001c0001t0021 a0001c0003t0009 a0001c0009t0009 a0001c0019t0009 a0003c0032t0007	a0001c0001t0021g0127 a0001c0003t0009g0007 a0001c0009t0009g0081 others(3): Show a0001c0001t0021g0127 a0001c0003t0009g0007 a0001c0009t0009g0081 a0001c0009t0009g0090 a0001c0019t0009g0008 a0003c0032t0007g0161	6	218	0.0275	-276	c.52 others(11): Show c.5223_*5498del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2575		chr5	TogoVar
SNX29_chr16_11971734_12579287	12261714	GCGTCCCC others(269): Show GCGTCCCCGGCTGGAGTGAGTGTTTGCTGAGCTCGGGTCTGTGCGTGCGT CCCCGGCTGGAGTGAGTGTTTGCTGAGCTCGGGTCTGTGCACGTGTCCCC GGCTGGAGTAAGTGTTTGCTCTGAGCTCCGGTCTGTGCGTGCATCCCTGG CTGGAGTGAGTGTTTGCTGAGCTCGGGTCTGTGCATGCGTCCCCGGCTGG AGTGAGTGGTTCCTGAGCCCAGGTCTGCACGTGTCCCCGGCTGGAGTGAG TGTTTGCTGAGCTCGGGTCTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0074 a0001c0004t0074	a0001c0004t0074g0159 a0001c0004t0074g0159	1	176	0.0057	-276	c.167 others(21): Show c.1679-16176_1679-15901del	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
STON1_chr2_48525154_48603513	48555325	CCCCCCCC others(269): Show CCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTACCGGA CGGGGCCACTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCACGGA CGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGAC AGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp1 HG01993.hp2 others(8): Show HG01496.hp1 HG01515.hp1 HG01993.hp2 HG02615.hp1 HG02683.hp2 HG03017.hp1 HG03654.hp2 NA18747.hp2 NA18951.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0003t0008 a0001c0001t0001 a0001c0001t0010 a0001c0003t0008	a0001c0001t0001g0144 a0001c0001t0001g0182 a0001c0001t0001g0260 others(8): Show a0001c0001t0001g0144 a0001c0001t0001g0182 a0001c0001t0001g0260 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0347 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0010g0047 a0001c0003t0008g0161 a0001c0003t0008g0163	11	376	0.0293	-276	c.-48 others(19): Show c.-48+25149_-47-24947del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48556582	CCTCCCTC others(269): Show CCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCA TCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGCACGGCT GCCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGGCTGACCCCCCCAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0205 a0001c0003t0002g0205	1	376	0.0027	-276	c.-47 others(19): Show c.-47-23995_-47-23720del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
TAFA5_chr22_48484553_48756932	48681814	TCCACATG others(269): Show TCCACATGTAGACTCTCCCACTCCTGCTTGATCAAACACCAGCACCCCGT CGTTGGGGGCTGGACATTGAGGGGAAATGGCCTTAGGTTCTCGCACAGAT CCGTCCACTGTCCTAGGAGCTGTGGAGTCTTTGCGAGGGTACGGGAGCTC CCCGTCAAGCAGACGTTGTTGTGGACTCACTGGAGACTCGGGGCCTCCCA GGGCCTGAGGCTGCGGCTCCCCAAGGCCGTCCTCAGCTTCCCATCGATCC CATTCGTGGAGCACAGTGGGTGTTTGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(71): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02056.hp2 HG02129.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02723.hp1 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18747.hp2 NA18944.hp2 NA18952.hp1 NA18971.hp2 NA18994.hp1 NA18995.hp2 NA19002.hp2 NA19030.hp2 NA19060.hp1 NA19065.hp1 NA19074.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0002t0002	a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0069 others(71): Show a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0150 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0217 a0001c0001t0001g0232 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0147 a0001c0001t0002g0159 a0001c0001t0002g0167 a0001c0001t0002g0213 a0001c0001t0002g0223 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0063 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0110 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0149 a0001c0001t0003g0168 a0001c0001t0003g0178 a0001c0001t0003g0228 a0001c0001t0003g0238 a0001c0001t0003g0250 a0001c0001t0004g0199 a0001c0001t0005g0080 a0001c0001t0005g0104 a0001c0001t0005g0244 a0001c0001t0005g0246 a0001c0001t0006g0095 a0001c0001t0006g0135 a0001c0001t0006g0208 a0001c0001t0007g0023 a0001c0001t0010g0176 a0001c0001t0010g0224 a0001c0001t0010g0242 a0001c0001t0014g0145 a0001c0001t0017g0029 a0001c0001t0019g0090 a0001c0001t0021g0229 a0001c0001t0023g0116 a0001c0001t0030g0169 a0001c0001t0034g0044 a0001c0001t0035g0227 a0001c0002t0002g0091	74	258	0.2868	-276	c.263 others(19): Show c.263-25902_263-25627del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3			chr22	TogoVar
TPO_chr2_1408463_1548673	1529426	TGAGCAAC others(269): Show TGAGCAACCTTCCCAAATCCCCCCACTGTGTGCAATCTCCCCATATCCCC CCACTGTGAGCAACCTCCCCAAATCCCACTTGTTGCAACCTCCCCAAATC CCCCCACTGTGAGCAATCTCCCCAAATGCCCCACCGTGTGCAACCTCCTC AAATCCCCCACCACTCAGAGCAACCTTCTCAAATCCCCCCAATGTGAGCA ACCTCCTCAAATCCCCGTACTGTGTGCAACCTCCTATCACCCCCACTGTG TGCAACCTCCTCAAATCCCCCCACTGC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 HG02040.hp1 NA18962.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0013 a0002c0002 a0006c0013	a0002c0002t0009 a0006c0013t0012 a0002c0002t0009 a0006c0013t0012	a0002c0002t0009g0062 a0006c0013t0012g0067 a0002c0002t0009g0062 a0006c0013t0012g0067	2	130	0.0154	-276	c.261 others(21): Show c.2619-11166_2619-10891del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK2_chr17_19765830_19872936	19825582	CGCCTGTA others(269): Show CGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATCACTTGAA ACCAGGAAGCAGAGGTTGTACCACTGCACTCCAGCCTGAGTGACAGAGCA AGACTCCGTTTAAAAAAAAAAGTAGCTGGGTGTGGTGGCTCACACCTGTA ATTCCAGCACTTTGTGGGGCTGAGGCGGGTGGATCACCTGAGGTCCGGAG TTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA CAAAATTAGCCGGGCATGGTGGCGCAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	288	0.0035	-276	c.835 others(15): Show c.835+281_836-401del	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	11/26			chr17	TogoVar
VPS53_chr17_503668_719839	513814	CCATTTCC others(269): Show CCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCAT TTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCTCATTTCC AGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCA GGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCTCATTTCCAGCAGGTT ATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTATTC CGAGTGCTCTTCCTAGGGAAGGAATCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0145 a0002c0003t0145	a0002c0003t0145g0187 a0002c0003t0145g0187	1	232	0.0043	-276	c.50 others(11): Show c.5038_*5313del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	5038		chr17	TogoVar
WDR7_chr18_56646359_57034792	57024511	GATTTCAC others(269): Show GATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCC CTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG AGCTATGATAGTTATGTCCCTTATAGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0022 a0001c0013t0002g0022	1	144	0.0069	-276	c.427 others(19): Show c.4270-2427_4270-2152del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024624	GCTATGAT others(269): Show GCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTT ATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTAT TCTCAGGCAGGAATAGGGATATGTGAA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0068 a0001c0001t0006g0068	1	144	0.0069	-276	c.427 others(19): Show c.4270-2346_4270-2071del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024658	TATCCCTA others(269): Show TATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATG TCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATAT GTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCT CAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGA TTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGAT AGTTATGTCCCTTATAGAATTTCACAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp1 HG03579.hp1 HG02896.hp2 HG02922.hp1 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0009 a0004c0008 a0001c0003 a0001c0009 a0004c0008	a0001c0003t0031 a0001c0009t0012 a0004c0008t0022 a0001c0003t0031 a0001c0009t0012 a0004c0008t0022	a0001c0003t0031g0099 a0001c0009t0012g0079 a0004c0008t0022g0092 a0001c0003t0031g0099 a0001c0009t0012g0079 a0004c0008t0022g0092	3	144	0.0208	-276	c.427 others(19): Show c.4270-2331_4270-2056del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024673	ACAGGAAT others(269): Show ACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGT TATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTA TTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTAT AGAATTTCACAAATCCCTATTCTCAGG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	144	0.0069	-276	c.427 others(19): Show c.4270-2324_4270-2049del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF276_chr16_89716537_89745925	89732723	GCCGTTTG others(269): Show GCCGTTTGCCCCTGACCCTGCTGTACCATGCCCTCGCCCTCTGCTGTGTT CACCCTGACCCTGCTGTACCCTGCGCCCTCACCCTCTGCTGTGTTCACCT GACCCTGCTGTGTCCTGCGCCCTTGCCCTCTGCTGTGCTCGCCCTGACCC TGCTGTACCCCGCTGTACCCTGCGCCCTCGCCCTCTGCTGTGTTCACCCC GACCCTGCTGTACCCTGCGCCCTCATCCTCTGCTGTGCCCTCCCCCTCTG CTGTGTTCGCCCTGACCCTGCTGTACC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(65): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02135.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18968.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18994.hp2 NA19002.hp2 NA19003.hp2 NA19062.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp2 NA19087.hp1 NA20805.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0021 a0013c0023	a0001c0001t0001 a0002c0002t0003 a0002c0002t0006 others(14): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0035 a0002c0003t0005 a0002c0003t0009 a0002c0003t0014 a0002c0003t0015 a0002c0003t0025 a0002c0003t0044 a0002c0003t0045 a0002c0003t0056 a0002c0021t0014 a0013c0023t0003	a0001c0001t0001g0246 a0002c0002t0003g0017 a0002c0002t0003g0018 others(57): Show a0001c0001t0001g0246 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0051 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0289 a0002c0002t0003g0291 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0006g0290 a0002c0002t0022g0058 a0002c0002t0023g0288 a0002c0002t0024g0068 a0002c0002t0035g0292 a0002c0003t0005g0006 a0002c0003t0005g0008 a0002c0003t0005g0031 a0002c0003t0005g0032 a0002c0003t0005g0124 a0002c0003t0005g0126 a0002c0003t0005g0127 a0002c0003t0005g0129 a0002c0003t0005g0133 a0002c0003t0005g0135 a0002c0003t0005g0136 a0002c0003t0005g0137 a0002c0003t0005g0138 a0002c0003t0005g0140 a0002c0003t0005g0296 a0002c0003t0009g0006 a0002c0003t0009g0008 a0002c0003t0009g0123 a0002c0003t0009g0128 a0002c0003t0009g0130 a0002c0003t0009g0139 a0002c0003t0009g0141 a0002c0003t0014g0006 a0002c0003t0014g0132 a0002c0003t0015g0125 a0002c0003t0015g0134 a0002c0003t0015g0144 a0002c0003t0025g0006 a0002c0003t0044g0143 a0002c0003t0045g0008 a0002c0003t0056g0142 a0002c0021t0014g0131 a0013c0023t0003g0062	68	420	0.1619	-276	c.117 others(17): Show c.1170-577_1170-302del	ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF516_chr18_76352682_76500242	76394473	AGGCAGGT others(269): Show AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0287 a0001c0001t0036g0287	1	346	0.0029	-276	c.181 others(21): Show c.1811-14446_1811-14171del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
CAMK2B_chr7_44212154_44330594	44227461	GGGGGACA others(268): Show GGGGGACAGAAGGGGGTATGGGGGGCAGGGGGTGGAGGACAGAGGAGGGT GTGGGGGACAGAGGGGGATATGGGGGACAGAGGGAGTGTAGGGGACAGAG GAGGGTCTGGGGGGCAGAGGGAGAGTGTGGGGGACAGGGGGTGTGGGGGA CAGAGGGAGTGTGGGGGACAGAGGAGGGTCTGGAGGACAGAGGGAGAGTG TAGGGAACAGAGGGGGTGTGGGGGACAGAAAAGGGCGTGAAGGGACCAAG GTGGGTGTGGGGGACAGAGGGGTATA	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0200 a0002c0005t0003g0200	1	242	0.0041	-275	c.146 others(18): Show c.1468+1060_1469-818del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CDK12_chr17_39456486_39539544	39498933	TTCTTTCT others(268): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00673.hp1 others(12): Show HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00738.hp2 HG02040.hp2 HG02080.hp2 HG02165.hp1 HG02165.hp2 HG02895.hp2 HG02896.hp1 HG03453.hp1 HG03486.hp1 NA18939.hp1 NA18983.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0044	a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0164 others(12): Show a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0006g0139 a0001c0001t0006g0204 a0001c0001t0007g0072 a0001c0001t0010g0107 a0001c0001t0044g0199	15	260	0.0577	-275	c.242 others(19): Show c.2420-2315_2420-2041del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CPNE4_chr3_131528569_132040014	131635818	CAAGAACT others(268): Show CAAGAACTACTGCAGGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01169.hp1 others(51): Show HG00738.hp1 HG01069.hp1 HG01169.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03516.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18971.hp2 NA18982.hp1 NA18990.hp2 NA19030.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0004 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 others(51): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0003g0037 a0001c0001t0005g0073 a0001c0001t0008g0064 a0001c0001t0009g0067 a0001c0001t0011g0093 a0001c0001t0013g0017 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0011g0094 a0001c0002t0012g0025 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0002g0089 a0001c0003t0003g0045 a0001c0003t0010g0087 a0001c0003t0016g0092 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0005t0001g0012 a0001c0005t0004g0024 a0001c0005t0004g0026 a0001c0005t0015g0091 a0001c0006t0004g0008	54	94	0.5745	-275	c.681 others(19): Show c.681+33582_681+33856del	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CROCC2_chr2_240901336_240998311	240908095	CGTGAGCT others(268): Show CGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCG GGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTCG GGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCG GGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0238 a0001c0024t0002g0238	1	350	0.0029	-275	c.78+ others(15): Show c.78+1577_78+1851del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DBNDD1_chr16_89999871_90024456	90003460	CGGCCCGG others(268): Show CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGA TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGG ACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02818.hp2 others(5): Show HG01884.hp2 HG02615.hp2 HG02818.hp2 HG03540.hp1 NA18960.hp2 NA18989.hp1 NA19004.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0011 a0001c0001t0001 a0001c0001t0003 a0001c0002t0011	a0001c0001t0001g0006 a0001c0001t0001g0101 a0001c0001t0001g0226 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0101 a0001c0001t0001g0226 a0001c0001t0003g0014 a0001c0001t0003g0028 a0001c0001t0003g0139 a0001c0002t0011g0059	8	412	0.0194	-275	c.26 others(11): Show c.2600_*2874del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1410		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003470	TACCTTTA others(268): Show TACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCC CGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02818.hp1 HG03209.hp1 others(1): Show HG02055.hp1 HG02818.hp1 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0194 a0001c0001t0001g0196	4	412	0.0097	-275	c.25 others(11): Show c.2590_*2864del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1400		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003515	CGGCCCGG others(268): Show CGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCC TCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTC TATGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	412	0.0024	-275	c.25 others(11): Show c.2545_*2819del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1355		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003525	TACCTTTA others(268): Show TACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCC CGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCC TGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	-275	c.25 others(11): Show c.2535_*2809del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1345		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003601	TGGGACTT others(268): Show TGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACG TGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCC GGGCCACCTTTACGTGCACGTGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	412	0.0024	-275	c.24 others(11): Show c.2459_*2733del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1269		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003845	CGGCCCGG others(268): Show CGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGATTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTTTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 NA19087.hp1 HG01192.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0207 a0001c0001t0001g0091 a0001c0001t0001g0207	2	412	0.0049	-275	c.22 others(11): Show c.2215_*2489del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1025		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003931	CGGGACTT others(268): Show CGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTTTGACTCCCTCCCCCGGCCCGGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCC GGGCCACCTTTACGTGCACGTGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	412	0.0024	-275	c.21 others(11): Show c.2129_*2403del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		939		chr16	TogoVar
DDC_chr7_50453442_50570405	50459817	GTCCGGGA others(268): Show GTCCGGGAGGGAGGTGGGGGAATCAGCCCCCGGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCAT CCAGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATC TGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGA TCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20129.hp2 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	2	360	0.0056	-275	c.19 others(16): Show c.19-1249_*19-975del	DDC	ENSG00000132437.18	transcript	ENST00000444124.7	protein_coding	14/14			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51774431	CCTACATG others(268): Show CCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTA CAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTC CTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTC TCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACAGTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00597.hp2 others(94): Show HG00280.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18991.hp2 NA19003.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19079.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0003c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 others(66): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0245 a0001c0001t0001g0254 a0001c0001t0001g0262 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0002g0001 a0001c0001t0002g0199 a0001c0001t0004g0065 a0001c0001t0008g0328 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0237	97	420	0.2310	-275	c.364 others(15): Show c.364-672_364-398del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774981	CCTACATG others(268): Show CCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTA CAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTC CTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTC TCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACAGTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02135.hp2 NA18960.hp1 others(3): Show HG00621.hp2 HG02135.hp2 NA18960.hp1 NA18988.hp1 NA18995.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0148 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0148 a0001c0001t0001g0184 a0001c0001t0001g0268	6	420	0.0143	-275	c.364 others(16): Show c.364-1222_364-948del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1563096	ACTGTGTG others(268): Show ACTGTGTGGTGTTGGGGTGTCCGCGCCTCATTGCTGGGGGACTGTGTGGT GTTGGGGTGTCCGCGCCTCGTTACTGGGGGGCTGTGTGGTGTTGGGGTGT CTGCGCCTCGTTACTGGGGGACTGGTGTTGGAGTGTCTGCGCCTCGTTAC TGGGGGACTGTGTGGTGTTGGGTGTCTGCGCCTCGTTGCTGGGGGACTGT GTGGTGTTGGGGTGTCCGTGCCTCGTTACTGGGGGGCTGTGTGGTTTTGG GGTGTCCGCGCCTCATTACTGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	-275	c.123 others(19): Show c.1231-2558_1231-2284del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1563106	GTTGGGGT others(268): Show GTTGGGGTGTCCGCGCCTCATTGCTGGGGGACTGTGTGGTGTTGGGGTGT CCGCGCCTCGTTACTGGGGGGCTGTGTGGTGTTGGGGTGTCTGCGCCTCG TTACTGGGGGACTGGTGTTGGAGTGTCTGCGCCTCGTTACTGGGGGACTG TGTGGTGTTGGGTGTCTGCGCCTCGTTGCTGGGGGACTGTGTGGTGTTGG GGTGTCCGTGCCTCGTTACTGGGGGGCTGTGTGGTTTTGGGGTGTCCGCG CCTCATTACTGGGGGGCTGTGTGGTG	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp1 NA18906.hp1 HG02647.hp2 HG03486.hp1 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0008 a0002c0001 a0004c0008	a0002c0001t0002 a0002c0001t0005 a0004c0008t0016 a0002c0001t0002 a0002c0001t0005 a0004c0008t0016	a0002c0001t0002g0013 a0002c0001t0005g0035 a0004c0008t0016g0029 a0002c0001t0002g0013 a0002c0001t0005g0035 a0004c0008t0016g0029	3	40	0.0750	-275	c.123 others(19): Show c.1231-2558_1231-2284del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1563176	GCTGTGTG others(268): Show GCTGTGTGGTGTTGGGGTGTCTGCGCCTCGTTACTGGGGGACTGGTGTTG GAGTGTCTGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGTGTCTGCG CCTCGTTGCTGGGGGACTGTGTGGTGTTGGGGTGTCCGTGCCTCGTTACT GGGGGGCTGTGTGGTTTTGGGGTGTCCGCGCCTCATTACTGGGGGGCTGT GTGGTGTTGGGGTGTCCGCGCCTCGTTACTGGGGGGCTGTGTGGTGTTGG GGTGTCCGCGCCTCGTTACTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01361.hp1 HG02071.hp1 others(10): Show HG01071.hp2 HG01361.hp1 HG02071.hp1 HG02074.hp1 HG02258.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03492.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0006 others(1): Show a0002c0001 a0002c0004 a0002c0006 a0002c0007	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(9): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0002c0007t0008	a0002c0001t0001g0018 a0002c0001t0002g0032 a0002c0001t0003g0017 others(10): Show a0002c0001t0001g0018 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0007g0038 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0001t0020g0024 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0002c0007t0008g0040	13	40	0.3250	-275	c.123 others(19): Show c.1231-2486_1231-2212del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
F8_chrX_154830792_155027723	154831507	ACAAAACG others(268): Show ACAAAACGTATCCAGAATCCTGCCACTTCACACCACCTCCACTGCTACCC ACCATCATCTCTGTCTTTCTGCTTCCGTCCTTGCCTCCCTTAAGCCTCTT CTCCAGTGAGTGGCCAAAGAGATCTTGGTAGGTTGTAGGTCAGATTATGT CCTAGTTACTGCTGACCACATATCCTATGAGTCTCCTCTTGATCATCACT CCAACTTAGCCTCATTTCATTTTGAACAAGCTAGGCATGTTCCTACCTTG GGGCTTTTTAACTTGCTTTTCCCTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG03486.hp2 others(1): Show HG02976.hp2 HG03098.hp1 HG03486.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0002 a0002c0002t0005 a0002c0010t0005 a0001c0001t0002 a0002c0002t0005 a0002c0010t0005	a0001c0001t0002g0218 a0002c0002t0005g0215 a0002c0002t0005g0216 others(1): Show a0001c0001t0002g0218 a0002c0002t0005g0215 a0002c0002t0005g0216 a0002c0010t0005g0095	4	233	0.0172	-275	c.58 others(11): Show c.5815_*6089del	F8	ENSG00000185010.15	transcript	ENST00000360256.9	protein_coding		4284		chrX	TogoVar
GPD2_chr2_156431379_156591403	156451341	TGCTCCTC others(268): Show TGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCAGCTGGCAGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGAAGGGGCGGCTGGCCGAGCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGTCTGACCCCCCCACCTCCTTCCCG GACAGGGCGGCTGGCCCGGCAGAGGG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	254	0.0039	-275	c.-9+ others(17): Show c.-9+14978_-9+15252del	GPD2	ENSG00000115159.17	transcript	ENST00000438166.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPD2_chr2_156431379_156591403	156451491	GGAAGGGG others(268): Show GGAAGGGGCGGCTGGCCGAGCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGTCTGACCCCCCCACCTCCTTCCCG GACAGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCAGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0001g0203 a0001c0001t0001g0235	2	254	0.0079	-275	c.-9+ others(17): Show c.-9+14981_-9+15255del	GPD2	ENSG00000115159.17	transcript	ENST00000438166.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
H4C11_chr6_27819092_27829480	27826935	CGGGTTGG others(268): Show CGGGTTGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00621.hp2 others(46): Show HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01192.hp2 HG01255.hp2 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02683.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18983.hp1 NA18986.hp1 NA18997.hp2 NA18998.hp1 NA19007.hp1 NA19010.hp1 NA19054.hp2 NA19057.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0000 a0001c0005t0001g0000 a0001c0001t0001g0000 a0001c0005t0001g0000	49	396	0.1237	-275	c.25 others(11): Show c.2500_*2774del	H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding		2456		chr6	TogoVar
H4C12_chr6_27826174_27836560	27826935	CGGGTTGG others(268): Show CGGGTTGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00621.hp1 others(48): Show HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01192.hp2 HG01255.hp2 HG01952.hp2 HG01975.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02683.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19057.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	51	419	0.1217	-275	c.40 others(11): Show c.4006_*4280del	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		4238		chr6	TogoVar
INPP5A_chr10_132532787_132788480	132764630	ACGGGCCA others(268): Show ACGGGCCAGTCCTGCAGGGGTGGGAGGGTGTGCGTGGTGACACTCAGAAA CACGGCCGGGTCAGTCCTGCTGTGGTGGGAGGGTGTGTGTGGTGACACTC AGGAACACGGTCGGGCCAGTCCTGCTGCGGTGGGAGGGTGTGCGTGGTGA CACTCAGAAACACGGTCGGGCCAGTCCTGCAGGGTTGAGAGGGTGTGTGT GGTGACACTCAGAAACACGGCCGGGTCAGTCCTGCTGTGGTGGGAGGGTG TGCGTGGTGACACTCAGGAACACGGT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19240.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0016 a0001c0001t0016g0076 a0001c0001t0002g0016 a0001c0001t0016g0076	2	204	0.0098	-275	c.904 others(16): Show c.904-1096_904-822del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRPAP1_chr4_3498612_3537422	3509494	CGGAGACT others(268): Show CGGAGACTGTTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTG GACACCGGAGACTGTTGAGACGCCGACTGGAGTCACACACGGCAGTCAAC GCGTGGACACCGGAGACTGTTGAGACGCCGACTGGAGTCACACACGGCAG TCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACAC GGCAGTCAACGCGTGGACACTGGAGACTGCTGAGACGCCGACTGGAGTCA CACACGGCAGTCAACGCGTGGACACT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0098 a0002c0003t0098	a0002c0003t0098g0230 a0002c0003t0098g0230	1	420	0.0024	-275	c.32 others(11): Show c.3205_*3479del	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3205		chr4	TogoVar
MAD1L1_chr7_1810795_2237945	2035383	CGGGACAG others(268): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGG CATGAGCGCGGGAGCACTGACAAGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	264	0.0038	-275	c.121 others(21): Show c.1219-21016_1219-20742del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2035878	CGGGACAG others(268): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTTGGGACAGAGCTGGGGTCCAGGCTCCCAGG CATGAGCGCGGGAGCACTGACAAGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02738.hp2 others(3): Show HG02280.hp2 HG02630.hp1 HG02738.hp2 HG02922.hp2 HG03540.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0014 a0001c0001 a0001c0003 a0003c0014	a0001c0001t0001 a0001c0003t0001 a0003c0014t0001 a0001c0001t0001 a0001c0003t0001 a0003c0014t0001	a0001c0001t0001g0090 a0001c0001t0001g0172 a0001c0001t0001g0210 others(3): Show a0001c0001t0001g0090 a0001c0001t0001g0172 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0003t0001g0064 a0003c0014t0001g0067	6	264	0.0227	-275	c.121 others(21): Show c.1219-21511_1219-21237del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MYZAP_chr15_57586904_57690364	57688128	TATATATG others(268): Show TATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACA TATATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACA TATATATGTGTGTACAATATACACATATATTATGTGTGTACAATATACAC ATATATTATGTGTGTACAATATACACATATATAATATGTGTGTACAATAT ACACATATATATAATATGTGTGTACAATATACACATATATATAATATGTG TGTACAATATACACATATAATATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02523.hp2 NA18943.hp2 others(10): Show HG01928.hp2 HG02523.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18953.hp1 NA18955.hp2 NA18964.hp2 NA18986.hp2 NA18998.hp2 NA19030.hp1 NA19074.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0002t0002	a0001c0001t0001g0191 a0001c0001t0001g0224 a0001c0001t0001g0256 others(10): Show a0001c0001t0001g0191 a0001c0001t0001g0224 a0001c0001t0001g0256 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0338 a0001c0001t0002g0308 a0001c0001t0002g0323 a0001c0003t0002g0038 a0001c0003t0002g0046 a0001c0003t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0094	13	352	0.0369	-275	c.36 others(11): Show c.3631_*3905del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2765		chr15	TogoVar
NRIP3_chr11_8975576_9009001	8978466	TGCCCGGC others(268): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0156 a0001c0001t0025g0156	1	406	0.0025	-275	c.48 others(11): Show c.4804_*5078del	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		2109		chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31510607	CATACATA others(268): Show CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAA CATATATGTATATCTATATGTAACAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG03139.hp2 HG02145.hp2 HG02559.hp1 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0051 a0001c0004t0027 a0001c0004t0051	a0001c0004t0027g0022 a0001c0004t0027g0025 a0001c0004t0051g0004 a0001c0004t0027g0022 a0001c0004t0027g0025 a0001c0004t0051g0004	3	244	0.0123	-275	c.894 others(17): Show c.894-7064_894-6790del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar

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