Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CHMP1A_chr16_89639435_89662708	89647614	TGCGGGGT others(413): Show TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03834.hp2 NA18949.hp2 others(2): Show HG01106.hp1 HG03834.hp2 NA18949.hp2 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0197 others(2): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0003g0053	5	392	0.0128	-420	c.253 others(15): Show c.253-703_253-284del		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6						chr16	TogoVar
CNN2_chr19_1021608_1044065	1034448	GAGCGTGG others(413): Show GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGT GGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGG TGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGT GGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGG GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACA CGGTGTCTGGTGTAGACGGTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03516.hp2 NA19240.hp1 HG02572.hp2 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0009 a0001c0003t0010 a0001c0001t0005 a0001c0001t0009 a0001c0003t0010	a0001c0001t0005g0034 a0001c0001t0009g0220 a0001c0003t0010g0071 a0001c0001t0005g0034 a0001c0001t0009g0220 a0001c0003t0010g0071	3	390	0.0077	-420	c.391 others(17): Show c.391-1667_391-1248del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
COL23A1_chr5_178232618_178595393	178525130	AGGACCCG others(413): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02895.hp2 HG02976.hp2 others(3): Show HG02015.hp1 HG02895.hp2 HG02976.hp2 HG03139.hp1 NA18950.hp1 NA19060.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0004c0006	a0001c0001t0003 a0002c0002t0001 a0002c0003t0002 others(2): Show a0001c0001t0003 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003 a0004c0006t0003	a0001c0001t0003g0116 a0002c0002t0001g0181 a0002c0002t0001g0191 others(3): Show a0001c0001t0003g0116 a0002c0002t0001g0181 a0002c0002t0001g0191 a0002c0003t0002g0209 a0002c0003t0003g0157 a0004c0006t0003g0128	6	236	0.0254	-420	c.361 others(19): Show c.361+35132_361+35551del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
CTDP1_chr18_79674803_79759503	79745531	GGTTCTGT others(413): Show GGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCC CGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGT CCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGC CCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTT CTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTG CGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCT CCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGC GTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGT GCCCGCGTCCCTCCCGTGCGC	G G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0103 a0003c0005t0002g0103	1	378	0.0027	-420	c.274 others(19): Show c.2748-8113_2748-7694del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP4F11_chr19_15907377_15939529	15931729	GGAATGAG others(413): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0174 a0002c0001t0174	a0002c0001t0174g0203 a0002c0001t0174g0203	1	386	0.0026	-420	c.198 others(17): Show c.198+2062_199-2129del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933409	GGAATGAG others(413): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02895.hp1 HG00741.hp2 HG02895.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0091 a0002c0001t0159 a0002c0001t0091 a0002c0001t0159	a0002c0001t0091g0153 a0002c0001t0159g0380 a0002c0001t0091g0153 a0002c0001t0159g0380	2	386	0.0052	-420	c.198 others(15): Show c.198+382_198+801del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
DLGAP2_chr8_732628_1713476	1315834	GTTTAAAA others(413): Show GTTTAAAAATAGAGCCTGTGCGAGTGCAGCGTCTCTCCAACGGTGGTCTA CACTCGAGAAACTTGGCAGCTTTTAAAAATAGAGCGTGTGCGAGTGCAGC CTCTCTCCAACAGTGGTCTACACTCGAGAAACTTCGCAGCTTTTAAAAAT AGAGGCTGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCTACACTCGAGAC ACTTGGCAGCTTTTAAAAATAGAGCGTGTGTGAGTGCAGCGTCTCTCCCA CAGTGGTCTACACTCGAGACACTCGGCAGCTTTTAAAAATAGAGCGTGTG CGAGTGCAGCGTCTCCCCAACAGTGGTCTACACTCGAGAAACTCAGCAGC GTTTAAAAATAGAGCCTGTACGAGTGCAGCGTCTCTCCAACAGTGGTCTA CACTCGAGAAACTCGGCAGCT	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02895.hp2 HG02976.hp1 HG02698.hp2 HG02895.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0007 a0002c0001 a0002c0004 a0002c0007	a0002c0001t0002 a0002c0004t0018 a0002c0007t0008 a0002c0001t0002 a0002c0004t0018 a0002c0007t0008	a0002c0001t0002g0032 a0002c0004t0018g0010 a0002c0007t0008g0040 a0002c0001t0002g0032 a0002c0004t0018g0010 a0002c0007t0008g0040	3	40	0.0750	-420	c.106 others(19): Show c.106+56966_106+57385del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1691791	TCGGCCCT others(413): Show TCGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCT GGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAA CGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTAC CGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAG GGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGG ATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCC CTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTA AACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGT ACCGAGGCAGGGAGGCGGATA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0040 a0002c0007t0008g0040	1	40	0.0250	-420	c.279 others(17): Show c.2796+412_2796+831del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137567546	ACTCTGTC others(413): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGAC TCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19087.hp2 HG03669.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0248 a0001c0001t0001g0206 a0001c0001t0001g0248	2	340	0.0059	-420	c.641 others(17): Show c.641-2812_641-2393del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DUXA_chr19_57149021_57172485	57168982	CAATTACC others(413): Show CAATTACCATAATCAAATCAAGCTGATTGATGTATTTACCACCTCAAACC ACACCCTTTGTGTGTGTGTACATATATATTACATTATATTATATTTACTC CAATTATTGTATTTACTTTTTAGCTTTATTGAGGTACAGTTAACAAAAAT GATATAAATGATATATATTTTAAATATACAGTTTGAATTTTGAAATACAC AAAAGATATAATTACCATAATCAAATCAAGCTGATTGATGTATTTACCAC CTCAAACCACACCCTTTGTGTGTGTGTACATATATATTACATTATATTAT ATTTACTCCAATTAAATATTGTATTTACTTTTTAGCTTTATTGAGGTACA GTTGACAAAAATGATATAAATGATATATATTTTAAATATACAGTTTGAAT TTTGAAATACACAAAAGATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00741.hp1 others(32): Show HG00099.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02300.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp2 NA19030.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0029 others(27): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0391 a0001c0001t0001g0394 a0001c0001t0001g0395 a0001c0001t0002g0115 a0001c0001t0002g0375 a0001c0001t0002g0382 a0001c0001t0002g0383 a0001c0001t0002g0384 a0001c0001t0002g0385 a0001c0001t0002g0388 a0001c0001t0002g0389 a0001c0001t0002g0390 a0001c0001t0002g0392 a0001c0001t0002g0393 a0001c0001t0002g0396 a0001c0003t0002g0118	35	446	0.0785	-420	c.-19 others(11): Show c.-1959_-1540del		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					1498		chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306373	CTCTCCCA others(413): Show CTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCT TCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCA GAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACA AAGAGGCTCCTCCCTGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGA CAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTG GCCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCT CTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGC CAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTA CAAAGAGGCTCCTCCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01261.hp1 others(12): Show HG00544.hp2 HG00741.hp1 HG01261.hp1 HG01952.hp2 HG03654.hp1 HG03704.hp1 HG03834.hp2 HG04199.hp2 NA18952.hp2 NA18953.hp1 NA18961.hp1 NA18973.hp2 NA19056.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0286 a0001c0001t0003g0031 a0001c0001t0003g0197 others(11): Show a0001c0001t0001g0286 a0001c0001t0003g0031 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0213 a0001c0001t0003g0234 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0324 a0001c0001t0003g0344 a0001c0001t0003g0352 a0001c0001t0005g0106 a0001c0001t0005g0143	15	396	0.0379	-420	c.461 others(17): Show c.461+1586_461+2005del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306636	CGCCAGAG others(413): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTAT CTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACT AAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCT CCCTGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGA TTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCAC GTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTC CCCCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG02717.hp1 others(1): Show HG01891.hp2 HG02622.hp1 HG02717.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0300 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0300 a0001c0001t0002g0110	4	396	0.0101	-420	c.461 others(17): Show c.461+1838_461+2257del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
ESYT2_chr7_158725997_158834509	158803810	TGAGAAGG others(413): Show TGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGC GCGCGACAAACCCAAACCACGGAGAAGGGTGAGGCGCGCGACAAACCCAA ACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGT GAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAA CCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACTGTTGAGA AGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCG ACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGT CGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGC GCGCGACAAACCCAAACCGCC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0056 a0001c0001t0001g0061	2	370	0.0054	-420	c.331 others(17): Show c.331-5158_331-4739del		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22						chr7	TogoVar
FOXN3_chr14_89151177_89422233	89362251	AGCACCAC others(413): Show AGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCAC CACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCA CCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGC ACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCAC CAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCT CCACCACCACCACCACCATCTCTACGACCACCACCACCACCATCTCCACC ACCACCTCCACCACCACCACCACCACCATCTCTACGACCACCACCACCAC CACCATCTCTACGACCACCACCACCTCCACCACCATCTCCACCACCACCA CCACCATCTCCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	230	0.0044	-420	c.544 others(19): Show c.544-11863_544-11444del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FRYL_chr4_48492357_48785279	48659498	AGGGAGAA others(413): Show AGGGAGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00741.hp2 others(10): Show HG00099.hp2 HG00140.hp2 HG00741.hp2 HG01074.hp2 HG01175.hp1 HG01192.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG03710.hp2 NA19007.hp1	a0001 a0019 a0001 a0019	a0001c0002 a0019c0015 a0001c0002 a0019c0015	a0001c0002t0001 a0001c0002t0008 a0019c0015t0001 a0001c0002t0001 a0001c0002t0008 a0019c0015t0001	a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0025 others(10): Show a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0074 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0193 a0001c0002t0008g0076 a0019c0015t0001g0093	13	282	0.0461	-420	c.-81 others(19): Show c.-81+24755_-80-25009del		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
FRYL_chr4_48492357_48785279	48659499	GGGAGAAG others(413): Show GGGAGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02015.hp1 HG03831.hp1 others(2): Show HG01891.hp1 HG02015.hp1 HG03831.hp1 HG04204.hp2 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0001g0075 others(2): Show a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0001g0075 a0001c0002t0001g0089 a0001c0002t0003g0088	5	282	0.0177	-420	c.-81 others(19): Show c.-81+24754_-80-25010del		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
GALR1_chr18_77244848_77282900	77258446	GTGGTGGT others(413): Show GTGGTGGTGATGATGGTGGTGGTATTGGTGGTGGTGATGGTGGTGGGTGG TAGTGGTGGTGATGATGGTGATCATTGTGGTGATGGTGGCGATTGTGGTG GTGATGGTGGTGGTCATAGTGGGGGTGGTGGTGGTCATGGTGGTGATGGT GGTGGTCATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGG TGGTCATAGTGGTGGTGGTGGTGGTCATGGTGGTGATGGTGATGGTGGTG GTGGTCATGTGATGGTGGTGCTGGTGATGGTGGTGATGGTGATGATGGTT ATGGTGGTGATGATGGCAATTGTGATAGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTCATAGTGGTGGTGGTGCTGGTGATGGTGGTGATGG TGGTGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0122 a0001c0002t0122	a0001c0002t0122g0214 a0001c0002t0122g0214	1	366	0.0027	-420	c.732 others(17): Show c.732+2243_732+2662del		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
HIC1_chr17_2050103_2068241	2052437	GGGGGTTA others(413): Show GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0001 a0001c0002t0053g0001	1	414	0.0024	-420	c.-28 others(11): Show c.-2821_-2402del		HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding					2665		chr17	TogoVar
HIC1_chr17_2050103_2068241	2052647	GGGGGTTA others(413): Show GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00639.hp2 others(80): Show HG00280.hp2 HG00438.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02135.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02559.hp1 HG02683.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03017.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04199.hp1 NA18747.hp1 NA18943.hp2 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18963.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18995.hp1 NA18997.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0006c0010 a0007c0007 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0039 a0001c0001t0044 a0001c0001t0081 a0001c0001t0082 a0001c0001t0089 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0017 a0001c0002t0047 a0001c0002t0050 a0001c0002t0055 a0002c0003t0002 a0006c0010t0006 a0007c0007t0026 a0008c0016t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0003g0001 a0001c0001t0005g0002 a0001c0001t0006g0002 a0001c0001t0007g0003 a0001c0001t0008g0001 a0001c0001t0009g0002 a0001c0001t0010g0003 a0001c0001t0032g0002 a0001c0001t0034g0001 a0001c0001t0036g0001 a0001c0001t0039g0002 a0001c0001t0044g0003 a0001c0001t0081g0002 a0001c0001t0082g0002 a0001c0001t0089g0002 a0001c0002t0001g0001 a0001c0002t0003g0001 a0001c0002t0007g0001 a0001c0002t0017g0001 a0001c0002t0047g0001 a0001c0002t0050g0001 a0001c0002t0055g0001 a0002c0003t0002g0004 a0006c0010t0006g0002 a0007c0007t0026g0003 a0008c0016t0002g0002	83	414	0.2005	-420	c.-26 others(11): Show c.-2611_-2192del		HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding					2455		chr17	TogoVar
HS3ST2_chr16_22809162_22921338	22818686	CCTTGCCT others(413): Show CCTTGCCTGCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTC CTTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCCTCCTTCCTTCC TTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTC ATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTT CCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCC TTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	350	0.0029	-420	c.485 others(17): Show c.485+3593_485+4012del		HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNG2_chr18_79792938_79905100	79808327	GCTGACCA others(413): Show GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTC GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGACACA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp2 HG02723.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0222 a0001c0001t0001g0223	2	312	0.0064	-420	c.-11 others(21): Show c.-115+10357_-115+10776del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808387	ACTGACCA others(413): Show ACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGGACAC ACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00673.hp1 others(16): Show HG00099.hp2 HG00140.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01496.hp1 HG01517.hp1 HG02027.hp1 HG02040.hp2 HG02280.hp1 HG02602.hp2 NA18952.hp1 NA18973.hp1 NA18994.hp1 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0006 a0004c0008 a0007c0014	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0004t0001 a0003c0006t0001 a0004c0008t0001 a0004c0008t0004 a0007c0014t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0037 others(16): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0085 a0001c0001t0001g0118 a0001c0003t0001g0036 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0004t0001g0039 a0002c0004t0001g0070 a0003c0006t0001g0004 a0003c0006t0001g0041 a0004c0008t0001g0042 a0004c0008t0004g0016 a0007c0014t0001g0045	19	312	0.0609	-420	c.-11 others(21): Show c.-115+10477_-115+10896del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808499	GGGGCCTC others(413): Show GGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTG AGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGT CCGCGCTCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATG GGCCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGGACACACTGACCACACT CCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACAC TGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCC GGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTG AGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGT CCGCGCTCTGAGAAGCTGCCA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	312	0.0032	-420	c.-11 others(21): Show c.-115+10489_-115+10908del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
LMNB2_chr19_2423166_2461959	2433185	TTTCCGGT others(413): Show TTTCCGGTCACCTTGTCCCCTGCCTCGTATTGGCCGGCGGCCCCGTCACC CTGACCCTGATCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCC CGGTCATTCCGGTCACCTTGTCCCCTGCCTCGTATTGGCCGGCGGCCCCG TCACCCTGACCCTGATCACCCCCATCAGCTGGGTCACCCCGTTACCCCCA TGCCCCAGTCATTCCGGTCACCTTGTCCCCTGCCTCGCATTGGCCGACAG CCCCGTCACCCTGACCCTGGTCACCCCCATCAGCTGGGTCACCCCGTTAC CCCCATGCCCCGGTCATTCCGGTCACCTTGTCCCCTGCCTCGCATTGGCC GACGGCCCCGTCACCCTGACCCTGGTCACCCCCATCAGCTGGGTCACCCC GTTACCCCCATGCCCCGGTCA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02717.hp2 others(2): Show HG01891.hp1 HG02647.hp1 HG02717.hp2 HG02970.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0027 a0001c0004t0002g0305 a0001c0004t0002g0306 others(1): Show a0001c0004t0002g0027 a0001c0004t0002g0305 a0001c0004t0002g0306 a0001c0004t0002g0307	5	356	0.0140	-420	c.148 others(17): Show c.1482+221_1482+640del		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11						chr19	TogoVar
LRRC24_chr8_144517388_144532033	144531294	AAGGGCAC others(413): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATA GCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	-420	c.-48 others(11): Show c.-4814_-4395del		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding					4262		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531530	AAGGGCAC others(413): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	1	398	0.0025	-420	c.-50 others(11): Show c.-5050_-4631del		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding					4498		chr8	TogoVar
LYRM4_chr6_5103419_5265950	5135001	GCTCCCGG others(413): Show GCTCCCGGGGCTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTG CGGATCGCTCCCGGGACTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGG AGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGG CTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACTC CCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGT TCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCTGGGGCTGTGGAGGG TGCGGTTCACTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGACTGT GGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTCCCGG GGCTGTGGAGGGTGCGGTTCA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0012 a0002c0002t0004g0012	1	286	0.0035	-420	c.208 others(19): Show c.208-25930_208-25511del		LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2						chr6	TogoVar
MBP_chr18_76973833_77137783	77018341	TATCCATC others(413): Show TATCCATCCATCCATACACATACCCACCTACCCATCCATCCATCCATCCC CCATCCACTCATCCATCCACCCACCCACCATCTATCCACTCATGCATGCA TGCATCCATCAATTCATCCATTCGTCATCCATCCATCCACATATCAGTCC ATTTACCCATCCATCCATCTATCCATCCATCCATACACACACCCACCTAC CCATCCATCTATCCATCCCCCATCCACTCATCCATCCATTCATCCATCCA CCCACCCCTCCATCTATCCACTCATCCATCCATCCATCCATCCATCCATC CACATATCAGTCCATTTACCCATTTATCCATCTATCCATCCATTCCATCC ATCCCCCATCCACTCATACATCCATTCATCCATCCATCCACCCCTCCATC TATCCACTCATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18950.hp2 NA18962.hp2 others(5): Show HG00621.hp2 NA18950.hp2 NA18962.hp2 NA18993.hp1 NA19000.hp1 NA19006.hp1 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0031	a0001c0001t0001g0167 a0001c0001t0003g0074 a0001c0001t0003g0124 others(5): Show a0001c0001t0001g0167 a0001c0001t0003g0074 a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0005g0298 a0001c0001t0006g0295 a0001c0001t0008g0353 a0001c0001t0031g0113	8	396	0.0202	-420	c.140 others(17): Show c.140-1493_140-1074del		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8						chr18	TogoVar
MUC4_chr3_195741771_195816929	195777269	CCCATACC others(413): Show CCCATACCTTCCACATCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCATACCTT CCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02717.hp1 others(2): Show HG02451.hp2 HG02647.hp2 HG02717.hp1 HG03098.hp2 HG03225.hp2	a0068 a0069 a0071 others(2): Show a0068 a0069 a0071 a0072 a0105	a0068c0171 a0069c0172 a0071c0175 others(2): Show a0068c0171 a0069c0172 a0071c0175 a0072c0173 a0105c0124	a0068c0171t0005 a0069c0172t0005 a0071c0175t0005 others(2): Show a0068c0171t0005 a0069c0172t0005 a0071c0175t0005 a0072c0173t0004 a0105c0124t0003	a0068c0171t0005g0229 a0069c0172t0005g0230 a0071c0175t0005g0227 others(2): Show a0068c0171t0005g0229 a0069c0172t0005g0230 a0071c0175t0005g0227 a0072c0173t0004g0225 a0105c0124t0003g0116	5	249	0.0201	-420	c.129 others(20): Show c.12943+614_12943+1033del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MYOM2_chr8_2040046_2150456	2085538	CGTGGCCC others(413): Show CGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATC TCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTG TCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCAC TGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04204.hp2 NA18747.hp2 HG03669.hp1 HG04204.hp2 NA18747.hp2	a0002 a0008 a0056 a0002 a0008 a0056	a0002c0017 a0008c0008 a0056c0168 a0002c0017 a0008c0008 a0056c0168	a0002c0017t0001 a0008c0008t0001 a0056c0168t0002 a0002c0017t0001 a0008c0008t0001 a0056c0168t0002	a0002c0017t0001g0330 a0008c0008t0001g0245 a0056c0168t0002g0318 a0002c0017t0001g0330 a0008c0008t0001g0245 a0056c0168t0002g0318	3	403	0.0074	-420	c.164 others(17): Show c.1644+157_1644+576del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085858	CCCCCACT others(413): Show CCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTG TGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTT TGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTG TTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCC ACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCC CCACTGTCATGATCTCTGGCA	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0051 a0004c0051	a0004c0051t0001 a0004c0051t0001	a0004c0051t0001g0360 a0004c0051t0001g0360	1	403	0.0025	-420	c.164 others(17): Show c.1644+478_1644+897del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP1R12B_chr1_202343699_202597702	202391560	CTCAGGTG others(413): Show CTCAGGTGTATTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02280.hp2 others(1): Show HG01243.hp1 HG02258.hp1 HG02280.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0034 a0001c0001t0105 a0001c0001t0009 a0001c0001t0034 a0001c0001t0105	a0001c0001t0009g0062 a0001c0001t0034g0044 a0001c0001t0034g0045 others(1): Show a0001c0001t0009g0062 a0001c0001t0034g0044 a0001c0001t0034g0045 a0001c0001t0105g0014	4	254	0.0158	-420	c.292 others(19): Show c.292-25217_292-24798del		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(413): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(103): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01993.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG04199.hp1 NA18943.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18970.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19074.hp1 NA19075.hp2 NA19078.hp2 NA19079.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0009 a0005c0007 a0006c0004 a0007c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(51): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0104 a0001c0003t0028 a0002c0002t0007 a0003c0009t0007 a0005c0007t0009 a0006c0004t0010 a0007c0005t0010	a0001c0001t0002g0094 a0001c0001t0002g0158 a0001c0001t0003g0013 others(103): Show a0001c0001t0002g0094 a0001c0001t0002g0158 a0001c0001t0003g0013 a0001c0001t0003g0021 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0127 a0001c0001t0007g0040 a0001c0001t0007g0049 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0009g0065 a0001c0001t0009g0066 a0001c0001t0009g0157 a0001c0001t0010g0080 a0001c0001t0010g0082 a0001c0001t0010g0083 a0001c0001t0011g0107 a0001c0001t0011g0114 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0011g0125 a0001c0001t0013g0093 a0001c0001t0013g0116 a0001c0001t0013g0126 a0001c0001t0016g0022 a0001c0001t0016g0025 a0001c0001t0018g0039 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0022g0105 a0001c0001t0022g0112 a0001c0001t0023g0106 a0001c0001t0023g0110 a0001c0001t0029g0123 a0001c0001t0029g0124 a0001c0001t0030g0115 a0001c0001t0030g0122 a0001c0001t0032g0057 a0001c0001t0032g0058 a0001c0001t0033g0090 a0001c0001t0035g0028 a0001c0001t0036g0017 a0001c0001t0036g0074 a0001c0001t0052g0128 a0001c0001t0053g0109 a0001c0001t0054g0111 a0001c0001t0055g0113 a0001c0001t0066g0117 a0001c0001t0067g0064 a0001c0001t0069g0098 a0001c0001t0070g0136 a0001c0001t0071g0073 a0001c0001t0074g0088 a0001c0001t0075g0018 a0001c0001t0076g0051 a0001c0001t0078g0050 a0001c0001t0079g0046 a0001c0001t0080g0086 a0001c0001t0081g0077 a0001c0001t0082g0097 a0001c0001t0084g0003 a0001c0001t0085g0078 a0001c0001t0086g0027 a0001c0001t0087g0016 a0001c0001t0090g0020 a0001c0001t0092g0024 a0001c0001t0093g0047 a0001c0001t0094g0054 a0001c0001t0095g0038 a0001c0001t0096g0052 a0001c0001t0097g0019 a0001c0001t0098g0060 a0001c0001t0104g0101 a0001c0003t0028g0118 a0001c0003t0028g0121 a0002c0002t0007g0055 a0002c0002t0007g0056 a0003c0009t0007g0036 a0005c0007t0009g0099 a0006c0004t0010g0063 a0007c0005t0010g0061	106	254	0.4173	-420	c.292 others(19): Show c.292-25052_292-24633del		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM7_chr16_90051566_90082331	90052466	TTCTCTGT others(413): Show TTCTCTGTAGACCGGCCGGAACCACTGCCTGGTGAATCTCTGTAGACCGG CCGGAACCACTGCCTGGTGAATCTCTGTAGACCGGCCGGAACCACTGCCT GGTGAATCTCTGTAGACCGGCCGGAACCACTGCCTGGTGAATCTCTGTAG ACCGGCCGGAACCACTGCCTGGTGAATCTCTGTAGACCGGCCGGAACCAC TGCCTGGTCATTCTCTGTAGACCGGCCGGAACCACTGCCTGATCATTCTC TGTAGACCGGCCGGAAGCACTGCCTGGTCATTCTCTGTAGACCGGCCGGA ACCACTGCCTGGTGAATCTCTGTAGACCGGCCGGAACCACTGCCTGGTGA ATCTCTGTAGACCGGCCGGAACCACTGCCTGGTGAATCTCTGTAGACCGG CCGGAACCACTGCCTGGTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0002	1	392	0.0026	-420	c.54 others(11): Show c.5403_*5822del		PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding					4099		chr16	TogoVar
PRDM9_chr5_23502609_23533093	23526744	CGTCTGCA others(413): Show CGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGAAGTCACACCTCCTCA TTCACCAGAGGATACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGT GGGCGGGGCTTTAGCTGGCAGTCAGTCCTCCTCACTCACCAGAGGACACA CACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCC GGCAGTCAGTCCTCCTCACTCACCAGAGGAGACACACAGGGGAGAAGCCC TATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCCGGCAGTCAGTCCTCCT CACTCACCAGAGGAGACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGT GTGGGCGGGGCTTTAGCTGGCAGTCAGTCCTCCTCACTCACCAGAGGACA CACACAGGGGAGAAGCCCTAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03471.hp2 HG03471.hp2	a0047 a0047	a0047c0053 a0047c0053	a0047c0053t0001 a0047c0053t0001	a0047c0053t0001g0029 a0047c0053t0001g0029	1	424	0.0024	-420	c.169 others(9): Show c.1690_2109del	p.Lys others(13): Show p.Lys564_Trp703del	PRDM9	ENSG00000164256.11	transcript	ENST00000296682.4	protein_coding	11/11	1878/3193	1690/2685	564/894		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKAG2_chr7_151551127_151882115	151603123	ACGCTCCA others(413): Show ACGCTCCATACTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCAC ACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTC CTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGAC ACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCAC ACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGCACCCGCTCCGTC CTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGAC ACGCTCCATCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCAC ACGGAGGCACCCGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTC CTCACCGCACACGGAGGCACC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG03098.hp1 HG02280.hp2 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0010t0024 a0001c0001t0002 a0001c0010t0024	a0001c0001t0002g0101 a0001c0001t0002g0173 a0001c0010t0024g0162 a0001c0001t0002g0101 a0001c0001t0002g0173 a0001c0010t0024g0162	3	252	0.0119	-420	c.755 others(17): Show c.755-8089_755-7670del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15						chr7	TogoVar
RGPD2_chr2_87750960_87830796	87798902	TCCCAGAG others(413): Show TCCCAGAGATTTTTATTCCATAGGTTTACAGTAAGCAATCAAAAAATCAT AGTCCTCGGATAAAATACTGATACATGCTATAACACAGATGAACCTTGAA AACCTTGCTAAATGAAAGAAGCCAGTCACAAAAGACCACATACTACATGA TTCCATTTATGTGAAATGTTCAGAAGAGGCAAACCGGCCGGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02293.hp1 HG01099.hp1 HG02293.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0026 a0001c0010t0002g0044 a0001c0010t0002g0026 a0001c0010t0002g0044	2	176	0.0114	-420	c.106 others(18): Show c.1064-1148_1064-729del		RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	8/22						chr2	TogoVar
RNF223_chr1_1065967_1079306	1077301	CGGGAGGC others(413): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0023 a0002c0003t0015g0023	1	324	0.0031	-420	c.-37 others(11): Show c.-3715_-3296del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2996		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077449	GGGGGGAG others(413): Show GGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGC TGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATG GGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGC TGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGC TGAGGCTACGGGGACTCCGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	-420	c.-38 others(11): Show c.-3863_-3444del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3144		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077947	CGGGGACT others(413): Show CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTA TGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAC GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	324	0.0031	-420	c.-43 others(11): Show c.-4361_-3942del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3642		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078741	GGGGAGGC others(413): Show GGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	-420	c.-51 others(11): Show c.-5155_-4736del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4436		chr1	TogoVar
RPH3AL_chr17_207389_357807	300010	GCCTGCAG others(413): Show GCCTGCAGAATCTCCCACCCACTCTAGAAGGGGCTGGCCCAGCCTAGGCC TGCAGAATCTCTCACCCACTCTAGCAGGGGCTGGCCCAGCCTAGGCCCGC AGAATCTCTCACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGGCCTGCAGA ATCTCTCACCCACTCTAGAAGGGGCTGGCCCAGCCTAGGCCTGCAGAATC TCTCACCCACTCTAGAAGGGGCTGGCCCAGCCTAGGCCTGCAGAATCTCT TACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCAC CCGGTCTAGCAGGGGCTGGCCCATAGGCCTGCAGAATCTCTCACCCGCTC TAGCAGGGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCACTCTAG AAGGGGCTGGCCCAGCCTAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(59): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG01070.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG03017.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18947.hp1 NA18951.hp1 NA18963.hp1 NA18963.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19056.hp1 NA19056.hp2 NA19079.hp1 NA19088.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0011 a0004c0007 a0005c0010 a0006c0009 a0007c0014 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0002t0003 a0001c0003t0001 a0001c0003t0030 a0001c0004t0001 a0002c0005t0005 a0002c0005t0023 a0003c0011t0001 a0004c0007t0007 a0005c0010t0003 a0006c0009t0001 a0007c0014t0018 a0008c0013t0003	a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0047 others(59): Show a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0002g0049 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0034 a0001c0001t0003g0051 a0001c0001t0003g0081 a0001c0001t0003g0101 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0005g0100 a0001c0001t0005g0132 a0001c0001t0007g0032 a0001c0001t0008g0042 a0001c0001t0008g0130 a0001c0001t0009g0066 a0001c0001t0011g0007 a0001c0001t0012g0005 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0014g0025 a0001c0001t0014g0106 a0001c0001t0015g0036 a0001c0001t0015g0041 a0001c0001t0016g0082 a0001c0001t0017g0070 a0001c0001t0017g0099 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0020g0127 a0001c0001t0021g0077 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0032g0004 a0001c0001t0033g0063 a0001c0001t0034g0018 a0001c0001t0037g0058 a0001c0002t0003g0033 a0001c0003t0001g0075 a0001c0003t0030g0122 a0001c0004t0001g0048 a0002c0005t0005g0035 a0002c0005t0023g0125 a0003c0011t0001g0016 a0004c0007t0007g0117 a0005c0010t0003g0085 a0006c0009t0001g0054 a0007c0014t0018g0102 a0008c0013t0003g0037	62	133	0.4662	-420	c.352 others(19): Show c.352-18576_352-18157del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SCML4_chr6_107697154_107829313	107782889	CAGGTGCT others(413): Show CAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGCTCTGAGTTTGCC TGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAG TTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGAGCTGG TCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGG TGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGAT GGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTG CCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTG AGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCT GGTCTGAGTTTGCCTGATGGG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0030 a0002c0006t0009g0030	1	250	0.0040	-420	c.-59 others(19): Show c.-59-10923_-59-10504del		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(413): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCG CCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC CCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGA CCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCC ACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18957.hp2 NA18943.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0003 a0002c0004t0006 a0002c0002t0003 a0002c0004t0006	a0002c0002t0003g0174 a0002c0004t0006g0173 a0002c0002t0003g0174 a0002c0004t0006g0173	2	218	0.0092	-420	c.212 others(17): Show c.212-3726_212-3307del		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
SULT4A1_chr22_43819509_43867513	43834488	AGCTTCCC others(413): Show AGCTTCCCACGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCT GCCCTGAGCTTCCCGCAGCCACACCGCGGCCCTGAGCTTCCCGCGCCCCC ACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGC GCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGGCCCTGAGCT TCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCACCCACACCGCGTCCC TGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCG CGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCC ACACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCC GCGCCCCCACCGCGTCCCTGT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02615.hp1 others(6): Show HG02055.hp1 HG02572.hp1 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG02965.hp1 HG03139.hp1 HG06807.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0237 a0001c0001t0002g0267 a0001c0001t0008g0012 others(3): Show a0001c0001t0002g0237 a0001c0001t0002g0267 a0001c0001t0008g0012 a0001c0001t0008g0132 a0001c0001t0008g0134 a0001c0001t0008g0135	9	386	0.0233	-420	c.509 others(16): Show c.509-1174_509-755del		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
TCF25_chr16_89868592_89916379	89901927	CGGGCCTC others(413): Show CGGGCCTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTG GGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGA CTAACACGGTGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGTTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCAACATAGTGAGACTCCGTCTCAAAAAAAAAG AAAAAAAAAAAAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGG TGAAATCCCTCCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAG GGTGAAATCCCTCCTTAAGAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp1 HG02897.hp1 others(8): Show HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03209.hp1 HG03225.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0098 a0002c0003t0001g0005 a0002c0003t0001g0274 others(7): Show a0001c0001t0001g0098 a0002c0003t0001g0005 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0277 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0286 a0002c0003t0001g0290	11	300	0.0367	-420	c.138 others(19): Show c.1381+1142_1381+1561del		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
TTC5_chr14_20281227_20310951	20284755	GCATCAAG others(413): Show GCATCAAGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAATCAAA ACAGCATGGTACTGGTACCAAAACAGAGATATAGACCAATGGAACAGAAC AGAGCCCTCAGAAATAATGCTGCATATCTGCAACTATCTGATCTTCGACA AACCTGACAAAAACAAGAAATGGGGAAACAATTCCCTATTTAATAAATGG TGCTGGGAAAACTGGCTAGCCATATGGAGAAAGCTGAAACTGGATCCCTT CCTTACACCTTATACAAAAATTAACTCAAGATGGATTAAAGACTTACATG TTAGAACTAAAACCATAAAAACCCTAGAAGAAAATCTAGGCAATACCATT CAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACAAAAAGCAAT GGCAACAAAAGACAAAATTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0027 a0001c0002t0003g0027	1	416	0.0024	-420	c.44 others(11): Show c.4452_*4871del		TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding					1471		chr14	TogoVar
ZNF107_chr7_64661133_64716577	64707993	GTCCTCAA others(413): Show GTCCTCAAACCTTACTACACAAAAGATAATTCATACTGGAGAGAACCTCT ACAAATTTGAAGAACATGGAAAAGCTTTTAACCTATTCTCAAACATTACT AACCATAAGATAATTTATACTGGAGAGAAACCCCACAAATGTGAAGAATG TGGAAAAGCTTATAACCGATTCTCAAACCTAACTATACATAAGAGAATTC ATACGGGAGAGAAACCTTACCAATGTGCAGAATGTGGCAAAGCCTTTAAC TGCTCCTCAACCCTTAATAGACATAAGATAATTCATACTGGAGAGAAACC TTACAAATGTAAAGAATGTGGCAAAGCTTTTAACCTATCCTCAACCCTTA CTGCACATAAGAAAATTCATACTGGAGAGAAACCCTATAAATGTGAAGAA TGTGGCAAAGCTTTTAACCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp2 HG00597.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0016 a0008c0016t0001g0016	1	422	0.0024	-420	c.191 others(9): Show c.1917_2336del	p.Gln others(13): Show p.Gln639_Thr778del	ZNF107	ENSG00000196247.13	transcript	ENST00000620827.6	protein_coding	4/4	2067/5630	1917/2559	639/852		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF229_chr19_44421254_44453472	44428489	ACCAGTGT others(413): Show ACCAGTGTGGACCCTCTGATGACCTTGAAGATGTGAGCTCTGACTATAGC CCTTCCCACACACGTGGCATCTGTATGGCTTCTCGCCAGTGTGCACTCTC TTATGACTAAGGAGACCTGAGCCATATCTGAAACCCTTCCCACATTCACA ACAAGTGTAGGGTTTCTCTCCTGTGTGCAACCTCTGGTGGGTGCGAAGAT TAGAGCCATAACTGAATCCCTTGCCACACTGATCACACGTATAGGGCTTT TTTCCCGTGTGGACTCGCTGATGTTTGTGAAGGCTTGATGTGCACCTAAA GCCCTTTCCGCACTCTTGGCATCTGTAAGGTTTCTCGCCTGTGTGGACTC TCTGGTGAATGAGAAGCCCTGAGCTGTAACTGAAGCCTTTGCCACACTCA GCACATTTATAGGGTTTCTCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18939.hp2 NA19011.hp2 NA18939.hp2 NA19011.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0033 a0011c0013t0001g0033	2	433	0.0046	-420	c.187 others(9): Show c.1872_2291del	p.Glu others(13): Show p.Glu625_Gly764del	ZNF229	ENSG00000278318.5	transcript	ENST00000614049.5	protein_coding	6/6	2720/4956	1872/2478	624/825			chr19	TogoVar
ZNF517_chr8_144793913_144815084	144811957	GTAAAGCT others(413): Show GTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACA GAGTGGGAGAGACACCGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAA TGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACCGACAGTAAAGCTCA GCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAGA GACACTGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAA GGCTGAGACAGGGTGGGAGAGACAGGGACAATAAAGCTCAGCCAGGTGCA GACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACA GTAAAGCTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACA GGGTGGGAGAGACAGGGACAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02647.hp1 HG02886.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0027 a0002c0004t0029 a0002c0004t0027 a0002c0004t0029	a0002c0004t0027g0012 a0002c0004t0029g0012 a0002c0004t0027g0012 a0002c0004t0029g0012	2	408	0.0049	-420	c.35 others(11): Show c.3563_*3982del		ZNF517	ENSG00000197363.11	transcript	ENST00000359971.4	protein_coding					1874		chr8	TogoVar

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Search Results (Total: 10000 hits)