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
DDA1_chr19_17304563_17328298	17306948	CGGGTTCA others(253): Show CGGGTTCAAGCGATTCTCCTGCCTCACCCTCCCGAGTAGCTGGGATTACA GGCATGCGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGG TTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATCC GCCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCG CTCTGTCCCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAA CTCCCTCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02717.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0069 a0001c0001t0003g0027 a0001c0001t0003g0069	2	388	0.0052	-260	c.-27 others(11): Show c.-2706_-2447del	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding		2614		chr19	TogoVar
DPH7_chr9_137549444_137583925	137565812	TCTGTCTG others(253): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19000.hp1 HG01981.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0190 a0001c0001t0002g0297 a0001c0001t0001g0190 a0001c0001t0002g0297	2	340	0.0059	-260	c.641 others(15): Show c.641-918_641-659del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565834	GGGGTGAC others(253): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	340	0.0029	-260	c.641 others(15): Show c.641-940_641-681del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1087512	GTTATTAT others(253): Show GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0060 a0001c0001t0086g0060	1	162	0.0062	-260	c.108 others(19): Show c.1086+3957_1086+4216del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FNDC11_chr20_63549159_63561695	63559416	AGGAGTCA others(253): Show AGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCAG GGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGG GAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCA GGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATG GGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTC AGGGTCAGGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(92): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01261.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02735.hp1 HG02738.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0003c0011 a0004c0013	a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 a0003c0011t0001 a0004c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0002t0001g0002 a0001c0015t0001g0001 a0003c0011t0001g0001 a0004c0013t0001g0001	95	416	0.2284	-260	c.27 others(11): Show c.2797_*3056del	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2722		chr20	TogoVar
GYG2_chrX_2823930_2887818	2844999	ATATATTT others(253): Show ATATATTTATATACACATGTGTATGTATATTTATATACACATGTGTATGT ATATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTT ATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTAT ATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATAT ACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATATAC ACGTGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	316	0.0032	-260	c.149 others(17): Show c.149+1661_149+1920del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845015	ATGTGTAT others(253): Show ATGTGTATGTATATTTATATACACATGTGTATGTATATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18971.hp1 NA19003.hp2 others(1): Show NA18947.hp1 NA18971.hp1 NA19003.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0100 others(1): Show a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0100 a0002c0002t0004g0080	4	316	0.0127	-260	c.149 others(17): Show c.149+1685_149+1944del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845039	ATGTGTAT others(253): Show ATGTGTATGTATATATACACGTGTGTATGTATATTTATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0042 a0001c0003t0002g0042	1	316	0.0032	-260	c.149 others(17): Show c.149+1699_149+1958del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HEATR6_chr17_60036008_60083921	60042467	GCGTCCTG others(253): Show GCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGC GTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCT GTGAGGCACTGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTC AGCATCCTCGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0193 a0001c0001t0086g0193	1	250	0.0040	-260	c.83 others(10): Show c.836_*1095del	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	836		chr17	TogoVar
HELZ2_chr20_63553086_63579239	63559416	AGGAGTCA others(253): Show AGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCAG GGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGG GAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCA GGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATG GGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTC AGGGTCAGGTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(76): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01261.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02735.hp1 HG02738.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18986.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19079.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0005 others(14): Show a0001 a0002 a0005 a0006 a0011 a0019 a0039 a0040 a0041 a0042 a0046 a0052 a0062 a0064 a0070 a0079 a0083	a0001c0006 a0001c0022 a0002c0002 others(21): Show a0001c0006 a0001c0022 a0002c0002 a0002c0005 a0002c0091 a0002c0098 a0002c0099 a0005c0007 a0006c0009 a0006c0051 a0011c0028 a0011c0104 a0019c0029 a0039c0092 a0040c0093 a0041c0103 a0042c0102 a0046c0094 a0052c0069 a0062c0047 a0064c0052 a0070c0058 a0079c0084 a0083c0132	a0001c0006t0003 a0001c0006t0008 a0001c0006t0010 others(44): Show a0001c0006t0003 a0001c0006t0008 a0001c0006t0010 a0001c0022t0038 a0001c0022t0095 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0002t0022 a0002c0002t0058 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0005t0005 a0002c0005t0006 a0002c0005t0011 a0002c0005t0017 a0002c0005t0018 a0002c0005t0059 a0002c0005t0065 a0002c0005t0106 a0002c0091t0005 a0002c0098t0005 a0002c0099t0007 a0005c0007t0005 a0005c0007t0007 a0005c0007t0032 a0006c0009t0001 a0006c0009t0002 a0006c0009t0003 a0006c0051t0002 a0011c0028t0027 a0011c0104t0021 a0019c0029t0006 a0039c0092t0007 a0040c0093t0027 a0041c0103t0007 a0042c0102t0066 a0046c0094t0034 a0052c0069t0010 a0062c0047t0017 a0064c0052t0080 a0070c0058t0002 a0079c0084t0003 a0083c0132t0020	a0001c0006t0003g0057 a0001c0006t0003g0180 a0001c0006t0003g0181 others(66): Show a0001c0006t0003g0057 a0001c0006t0003g0180 a0001c0006t0003g0181 a0001c0006t0003g0194 a0001c0006t0008g0173 a0001c0006t0008g0178 a0001c0006t0008g0192 a0001c0006t0010g0193 a0001c0022t0038g0046 a0001c0022t0095g0136 a0002c0002t0005g0006 a0002c0002t0005g0270 a0002c0002t0005g0279 a0002c0002t0005g0282 a0002c0002t0006g0031 a0002c0002t0006g0325 a0002c0002t0007g0007 a0002c0002t0007g0332 a0002c0002t0011g0273 a0002c0002t0011g0275 a0002c0002t0022g0310 a0002c0002t0058g0307 a0002c0002t0060g0304 a0002c0002t0061g0308 a0002c0002t0062g0309 a0002c0002t0063g0037 a0002c0005t0005g0029 a0002c0005t0005g0272 a0002c0005t0005g0346 a0002c0005t0006g0030 a0002c0005t0006g0041 a0002c0005t0006g0336 a0002c0005t0006g0337 a0002c0005t0011g0324 a0002c0005t0011g0338 a0002c0005t0017g0335 a0002c0005t0018g0301 a0002c0005t0059g0285 a0002c0005t0065g0284 a0002c0005t0106g0277 a0002c0091t0005g0290 a0002c0098t0005g0342 a0002c0099t0007g0038 a0005c0007t0005g0035 a0005c0007t0005g0288 a0005c0007t0005g0289 a0005c0007t0007g0318 a0005c0007t0032g0034 a0006c0009t0001g0048 a0006c0009t0002g0015 a0006c0009t0002g0112 a0006c0009t0002g0113 a0006c0009t0002g0149 a0006c0009t0003g0049 a0006c0051t0002g0121 a0011c0028t0027g0319 a0011c0104t0021g0043 a0019c0029t0006g0322 a0039c0092t0007g0293 a0040c0093t0027g0294 a0041c0103t0007g0316 a0042c0102t0066g0104 a0046c0094t0034g0296 a0052c0069t0010g0050 a0062c0047t0017g0287 a0064c0052t0080g0044 a0070c0058t0002g0124 a0079c0084t0003g0260 a0083c0132t0020g0042	79	390	0.2026	-260	c.782 others(16): Show c.7825+252_7826-47del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
IRF4_chr6_386752_416443	396649	GATGCCAG others(253): Show GATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTC TCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCG TCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTAACCC CGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACC CCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTA CCCCCGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0123 a0001c0001t0053g0123	1	460	0.0022	-260	c.493 others(14): Show c.493-355_493-96del	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIAA0753_chr17_6573147_6645711	6578801	TTGGAAAA others(253): Show TTGGAAAACATGATCTGTAAGATGTTGGAGGACCAGGCTATGATGGTTCT TAAGTTTCTTCCTTTCTCTGGGGAGACACAGAGGTCTTCGCGCCATCCAT CTGTTCCCTACTCCCACTTGGGTTCCTTTGTGGTATGAAATAGAGACACT TCTGACCTCATCGGAGACACAGCGAGGTCTGTACCTTCACCCAGGCACAG GAGAAGGCCTGGTCCTCTCCTGATTCCTCAAACTTCCTCTGAATCCAGAG AAAGTTTTTTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0140 a0002c0002t0015g0140	1	370	0.0027	-260	c.68 others(9): Show c.686_*945del	KIAA0753	ENSG00000198920.11	transcript	ENST00000361413.8	protein_coding	19/19	686		chr17	TogoVar
LMF1_chr16_848634_975984	960854	CACAGACT others(253): Show CACAGACTCACGGTGACAACACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0017 a0017	a0017c0050 a0017c0050	a0017c0050t0001 a0017c0050t0001	a0017c0050t0001g0051 a0017c0050t0001g0051	1	294	0.0034	-260	c.194 others(17): Show c.194-6448_194-6189del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198004765	ACATCTAT others(253): Show ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00544.hp1 others(37): Show HG00140.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp2 HG01346.hp2 HG01433.hp2 HG01928.hp2 HG02040.hp1 HG02145.hp1 HG02155.hp2 HG02738.hp2 HG03239.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18979.hp1 NA18986.hp2 NA18992.hp1 NA19003.hp1 NA19066.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0139 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0008g0168 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0011g0204 a0001c0001t0011g0207 a0001c0001t0011g0214 a0001c0001t0015g0172 a0001c0001t0036g0135 a0001c0001t0038g0002 a0001c0001t0039g0164	40	258	0.1550	-260	c.131 others(19): Show c.1319+1900_1319+2159del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRFN2_chr6_40386591_40592364	40491568	GTGTTTCC others(253): Show GTGTTTCCCTCACTCTATTTTGCCGTGTGACTGTGGGTAGGTAGGCAGCT TACCCTCTCTGAGTGTGTTTCCCTCTCTCCATTTTGCTGTGTGACTGTGG GTAGGTAGGCAGCTTACCCTCTCTGAGTGTGTTTCCCTCACTCTATTTTG CCGTGTGACTGTGGGTAGGTAGGCAGCTTACCCTCTCTGAGTGTCTGTTT CCCTCACTCTATTTTGCCGTGTGACTGTGGGTAGGTAGGCAGCTTACCCT CTCTGAGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0072 a0002c0005t0001g0192 a0001c0001t0001g0072 a0002c0005t0001g0192	2	228	0.0088	-260	c.-18 others(19): Show c.-18-58697_-18-58438del	LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2			chr6	TogoVar
MAML3_chr4_139711753_140159184	139842653	GATTATAG others(253): Show GATTATAGGTGTGTGCCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAG AGATGAGGTTTCACCGTGTTGGTCAGGCTCGAACTCCTGGCCTCAAGTTA TCCGCTTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTC ACTGTAACCTCCGCCTCCTGGTTCAAGTGATTCTCTTGCCTCAGCCTCCC GAGTAGCTGGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0099 a0001c0002t0005g0099	1	152	0.0066	-260	c.207 others(21): Show c.2079+46444_2079+46703del	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MRPL34_chr19_17300872_17311843	17306948	CGGGTTCA others(253): Show CGGGTTCAAGCGATTCTCCTGCCTCACCCTCCCGAGTAGCTGGGATTACA GGCATGCGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGG TTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATCC GCCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCG CTCTGTCCCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAA CTCCCTCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02717.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	382	0.0052	-260	c.57 others(9): Show c.570_*829del	MRPL34	ENSG00000130312.7	transcript	ENST00000252602.2	protein_coding		106		chr19	TogoVar
MYOM2_chr8_2040046_2150456	2086037	TGCGTGGC others(253): Show TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGA TCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTC GTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTG TCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCAC TGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCACCCCACTG TCGTGATCTCC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0042 a0042	a0042c0192 a0042c0192	a0042c0192t0002 a0042c0192t0002	a0042c0192t0002g0148 a0042c0192t0002g0148	1	403	0.0025	-260	c.164 others(17): Show c.1644+675_1644+934del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158667723	CCTTACCT others(253): Show CCTTACCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGT CCCTCCGCCTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	378	0.0027	-260	c.148 others(19): Show c.1480-3233_1480-2974del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEIL2_chr8_11764710_11792345	11782837	TGTAACGA others(253): Show TGTAACGATGTGGGGATGTGTGTATGTGTGTATGATCCAGCCACAGAGTG TGCTCTATGTTGTGGTAACGATGTGGGGATGTGTGTATGTGTGTATGATC CAGCCACAGAGTGTCCTCTGACTATGTTGTGGTAATGATGTGGGGATGTG TGTATGTGTGCATGATCCAGCCACAGAGTGTGCTCTGACTATACTGTGGT AACGATGTGGGGATGTCTGTATGTGTGTATGATCCAGCCACAGAGTGTGC TCTATGTTGTG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0120 a0001c0001t0022g0120	1	446	0.0022	-260	c.492 others(14): Show c.492-331_492-72del	NEIL2	ENSG00000154328.16	transcript	ENST00000284503.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
PAQR5_chr15_69293912_69412780	69300581	CTTTCTTT others(253): Show CTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCC TTCCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTC TCTCTCTTTCTTTCTTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTTAGTTCGT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	284	0.0035	-260	c.-27 others(19): Show c.-277+1534_-277+1793del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300640	TCTTTCTT others(253): Show TCTTTCTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCT CCCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTT CTTTCTTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTTAGTTC GTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	284	0.0035	-260	c.-27 others(19): Show c.-277+1588_-277+1847del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300644	TCTTTCTT others(253): Show TCTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCT CTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTTCTTT CTTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTTAGTTCGTTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0263 a0001c0003t0003g0263	1	284	0.0035	-260	c.-27 others(19): Show c.-277+1592_-277+1851del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDZRN4_chr12_41183320_41579745	41402310	GTATATAT others(253): Show GTATATATATATACACACACTGTGTGTATATATATATATACACACAGTGT GTATATATATATATACACACACTGTGTATATATATATATACACACAGTGT GTATATATATATATACACACACAGTGTATATATATATATATACACACTCT GTGTGTATATATATATATACACACAGGGTGTATATATATATATATATACG CTGTGTGTATATATATATATATACTGAGTGTATACATATATATATATATA CTGAGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0056 a0008c0056	a0008c0056t0001 a0008c0056t0001	a0008c0056t0001g0160 a0008c0056t0001g0160	1	206	0.0049	-260	c.844 others(21): Show c.844-104133_844-103874del	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2121698	AGGGTCAC others(253): Show AGGGTCACGGTGGTAGTTAGGGTCACGGCGGTACTTAGGGTCACGGCGGT GGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGG CGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGTTAGGTTCATG GTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCAC GGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGG TCACGGCGGTG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	286	0.0035	-260	c.335 others(19): Show c.335-13562_335-13303del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTDSS2_chr11_445279_496399	485075	ACGTGTGC others(253): Show ACGTGTGCTTACTGTGCACAGGCGAGTGTAAACAGTGCACGGGCGCGTGT GCTCACTGTGTGCGCAGGCGAGTGTAAGTGCACGGGCGTGTGTGCTCACT GCGCAGGCGAGTGTAAACTGCACAGGCGCGTGTGTGCTCACTGTGCGCAG GCGAGTGTAAACTGCACGGGCGCGTGTGTGCTCACTGCGCAGGCGAGTTT AAACAGTGCACGGGCGCGTGTGTGCTCACTGTGTGCGCAGGCGAGTGTAA GTGCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	346	0.0029	-260	c.436 others(17): Show c.436-1857_436-1598del	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PXDN_chr2_1626887_1749515	1706976	TCACTGTT others(253): Show TCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACA ATCTGAGAGCATGCTTCAGTGTTCAGCGATCAGCTCTAAACATCACCTGC CCCACTAATTATACAATCTAAGAGCACGCTGCAGTGCTCACCAATCAGCT CTAAGCATCACCTGCCCCACTAATAATACAATCTGAGAGCACGCTTCAGT GTTCAGCGATCAGCTCTAAACATCACCTGCCCCACTAATTATACAATCTA AGAGCACGCTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00609.hp2 others(29): Show HG00438.hp2 HG00544.hp1 HG00609.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02165.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18991.hp2 NA19005.hp2 NA19007.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp2	a0001 a0010 a0011 others(1): Show a0001 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0001c0035 a0010c0031 a0011c0027 a0012c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0008t0002 a0001c0015t0003 a0001c0035t0003 a0010c0031t0002 a0011c0027t0002 a0012c0038t0001	a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0226 others(29): Show a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0266 a0001c0001t0002g0277 a0001c0001t0003g0241 a0001c0002t0003g0098 a0001c0002t0003g0100 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0239 a0001c0008t0002g0202 a0001c0008t0002g0273 a0001c0008t0002g0276 a0001c0008t0002g0319 a0001c0015t0003g0118 a0001c0035t0003g0099 a0010c0031t0002g0120 a0011c0027t0002g0129 a0012c0038t0001g0238	32	322	0.0994	-260	c.201 others(19): Show c.201-14102_201-13843del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAN_chr12_130867066_130882678	130882418	CACCTCTA others(253): Show CACCTCTAGGTACTCCCGAGAGTGCCTCCTCCATCACCACAGATCCGCGT AGCCTGCATCACTGATCTCACCTCTAGGTACTCCTGAGAACTCCTCCTCC GTCTGTGGATCTGCGTGGTCTCCATCACTGATCTCACCTCTAGGTACTCC CGAGAGTGCCTCCTCCATCACCACAGATCCGCGTAGCCTGCATCACTGAT CTCACCTCTAGGTACTCCTGAGAACTCCTCCTCTGTCTGTGGATCTGCGT GGTCTCCATCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	426	0.0024	-260	c.64 others(11): Show c.6493_*6752del	RAN	ENSG00000132341.12	transcript	ENST00000543796.6	protein_coding		4741		chr12	TogoVar
RBM20_chr10_110639336_110844468	110767084	CCCCCCCA others(253): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGACCCCCCCCACCTCCCTC CCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTAGCCGGG TGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	268	0.0037	-260	c.192 others(19): Show c.192-13710_192-13451del	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCUBE1_chr22_43192280_43348372	43280909	TCCTCAGC others(253): Show TCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTC TTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTT GGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGC CATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGT CACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTAT CCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0046 a0003c0001t0001g0046	1	280	0.0036	-260	c.484 others(18): Show c.484+9877_484+10136del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SMOC2_chr6_168436184_168672992	168560493	GGCCCTGA others(253): Show GGCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCA TTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGT CATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGT GTCATTTTCCT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	180	0.0056	-260	c.637 others(19): Show c.637+11300_637+11559del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560858	GCCCTGAG others(253): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19030.hp2 NA19091.hp1 others(1): Show HG02896.hp1 NA19030.hp2 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0001t0001 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0159 a0001c0001t0006g0160 a0001c0002t0002g0058 others(1): Show a0001c0001t0001g0159 a0001c0001t0006g0160 a0001c0002t0002g0058 a0001c0002t0002g0066	4	180	0.0222	-260	c.637 others(19): Show c.637+11681_637+11940del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561326	GCCCTGAG others(253): Show GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	180	0.0056	-260	c.637 others(19): Show c.637+12148_637+12407del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561560	ATTCTTGG others(253): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGG CTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp1 HG03195.hp2 others(1): Show HG00609.hp2 HG01167.hp1 HG03195.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0002t0002g0043	4	180	0.0222	-260	c.637 others(19): Show c.637+12381_637+12640del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561690	GCCCTGAG others(253): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18951.hp2 HG02572.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0124 a0001c0002t0002g0011 a0001c0001t0001g0124 a0001c0002t0002g0011	2	180	0.0111	-260	c.637 others(19): Show c.637+12537_637+12796del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561742	GCCCTGAG others(253): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	180	0.0056	-260	c.637 others(19): Show c.637+12551_637+12810del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562085	TGGAGGAG others(253): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTG TGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18960.hp1 NA19079.hp1 HG02083.hp1 NA18960.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0002t0002g0060 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0002t0002g0060	3	180	0.0167	-260	c.637 others(19): Show c.637+12901_637+13160del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106698	GCGTGCTG others(253): Show GCGTGCTGTCACTCGGGTGCAGGGTGTGGAGAGCTCCTTGATAATAATGG ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGA GTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAA TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp1 HG02559.hp1 HG02895.hp1	a0010 a0015 a0010 a0015	a0010c0012 a0015c0036 a0010c0012 a0015c0036	a0010c0012t0001 a0015c0036t0001 a0010c0012t0001 a0015c0036t0001	a0010c0012t0001g0066 a0015c0036t0001g0070 a0010c0012t0001g0066 a0015c0036t0001g0070	2	190	0.0105	-260	c.325 others(17): Show c.325+8313_325+8572del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107314	GAGTGGAC others(253): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTG CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TGCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02738.hp1 others(3): Show HG01891.hp2 HG02559.hp2 HG02738.hp1 HG02922.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0033 a0003c0008 others(2): Show a0001c0001 a0002c0033 a0003c0008 a0005c0015 a0007c0016	a0001c0001t0001 a0002c0033t0001 a0003c0008t0001 others(2): Show a0001c0001t0001 a0002c0033t0001 a0003c0008t0001 a0005c0015t0001 a0007c0016t0001	a0001c0001t0001g0035 a0001c0001t0001g0102 a0002c0033t0001g0119 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0102 a0002c0033t0001g0119 a0003c0008t0001g0100 a0005c0015t0001g0103 a0007c0016t0001g0005	6	190	0.0316	-260	c.325 others(17): Show c.325+8947_325+9206del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107886	TAGTGGAC others(253): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01975.hp2 HG02293.hp2 others(5): Show HG01346.hp1 HG01975.hp2 HG02293.hp2 HG02738.hp2 HG04115.hp1 HG04184.hp1 NA18969.hp1 NA19000.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0021	a0001c0002 a0002c0005 a0003c0007 others(2): Show a0001c0002 a0002c0005 a0003c0007 a0006c0010 a0021c0030	a0001c0002t0001 a0002c0005t0001 a0003c0007t0001 others(2): Show a0001c0002t0001 a0002c0005t0001 a0003c0007t0001 a0006c0010t0001 a0021c0030t0001	a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0022 others(5): Show a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0022 a0002c0005t0001g0032 a0002c0005t0001g0107 a0003c0007t0001g0055 a0006c0010t0001g0012 a0021c0030t0001g0160	8	190	0.0421	-260	c.325 others(17): Show c.325+9519_325+9778del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108042	GAGTGGAC others(253): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp1 HG02258.hp2 HG03540.hp1	a0003 a0004 a0003 a0004	a0003c0026 a0004c0004 a0003c0026 a0004c0004	a0003c0026t0001 a0004c0004t0001 a0003c0026t0001 a0004c0004t0001	a0003c0026t0001g0097 a0004c0004t0001g0150 a0003c0026t0001g0097 a0004c0004t0001g0150	2	190	0.0105	-260	c.325 others(17): Show c.325+9684_325+9943del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108198	TAGTGGAC others(253): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTG CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03710.hp2 HG01192.hp2 HG03710.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0014 a0001c0002 a0004c0014	a0001c0002t0001 a0004c0014t0001 a0001c0002t0001 a0004c0014t0001	a0001c0002t0001g0023 a0004c0014t0001g0036 a0001c0002t0001g0023 a0004c0014t0001g0036	2	190	0.0105	-260	c.325 others(18): Show c.325+9831_325+10090del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108501	GCTTGGTA others(253): Show GCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp2 HG02451.hp2 HG03209.hp2	a0004 a0019 a0004 a0019	a0004c0004 a0019c0025 a0004c0004 a0019c0025	a0004c0004t0002 a0019c0025t0001 a0004c0004t0002 a0019c0025t0001	a0004c0004t0002g0074 a0019c0025t0001g0034 a0004c0004t0002g0074 a0019c0025t0001g0034	2	190	0.0105	-260	c.325 others(19): Show c.325+10100_325+10359del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108562	GAGTGGAC others(253): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TGCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01891.hp2 HG02145.hp1 others(7): Show HG01257.hp1 HG01891.hp2 HG02145.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02922.hp2 HG03239.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009	a0001c0001 a0002c0033 a0003c0007 others(5): Show a0001c0001 a0002c0033 a0003c0007 a0003c0008 a0004c0004 a0005c0015 a0007c0016 a0009c0029	a0001c0001t0001 a0002c0033t0001 a0003c0007t0001 others(5): Show a0001c0001t0001 a0002c0033t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0005c0015t0001 a0007c0016t0001 a0009c0029t0001	a0001c0001t0001g0102 a0001c0001t0001g0179 a0002c0033t0001g0119 others(7): Show a0001c0001t0001g0102 a0001c0001t0001g0179 a0002c0033t0001g0119 a0003c0007t0001g0108 a0003c0008t0001g0100 a0004c0004t0001g0151 a0004c0004t0001g0177 a0005c0015t0001g0103 a0007c0016t0001g0005 a0009c0029t0001g0152	10	190	0.0526	-260	c.325 others(19): Show c.325+10195_325+10454del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAT3_chr17_42308324_42393442	42338121	GGACCTGA others(253): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp2 HG02015.hp1 others(23): Show HG00544.hp1 HG01261.hp2 HG02015.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02895.hp2 HG02896.hp1 HG03490.hp1 HG04115.hp1 NA18612.hp1 NA18959.hp2 NA18962.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19074.hp2 NA19077.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0029 a0002c0002t0011	a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0002g0027 others(23): Show a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0114 a0001c0001t0007g0038 a0001c0001t0007g0079 a0001c0001t0008g0140 a0001c0001t0009g0064 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0012g0037 a0001c0001t0012g0085 a0001c0001t0015g0128 a0001c0001t0015g0129 a0001c0001t0029g0053 a0002c0002t0011g0088	26	302	0.0861	-260	c.550 others(15): Show c.550+350_551-265del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338241	GGACCTGA others(253): Show GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 NA18966.hp2 others(1): Show HG00558.hp2 HG00673.hp2 NA18966.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0204 a0001c0001t0011g0162	4	302	0.0133	-260	c.550 others(15): Show c.550+230_551-385del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
TENM2_chr5_166974029_168269157	167974071	GAGGAAGG others(253): Show GAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGA AGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGA GGGAGGGAGGAAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGG GAGGGAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGG AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGA GGGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp1 NA19043.hp2 others(1): Show HG01891.hp1 HG03098.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0019 others(1): Show a0001c0005 a0001c0007 a0001c0019 a0001c0030	a0001c0005t0016 a0001c0007t0017 a0001c0019t0003 others(1): Show a0001c0005t0016 a0001c0007t0017 a0001c0019t0003 a0001c0030t0026	a0001c0005t0016g0012 a0001c0007t0017g0030 a0001c0019t0003g0022 others(1): Show a0001c0005t0016g0012 a0001c0007t0017g0030 a0001c0019t0003g0022 a0001c0030t0026g0014	4	54	0.0741	-260	c.948 others(19): Show c.948-18825_948-18566del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TPO_chr2_1408463_1548673	1531166	CCCCCACT others(253): Show CCCCCACTGTGAGCAACCTCCCCAAATCCCCACACTGTCTGCAACCACCC CAAATCGCCCCCACTGTGTGCAACCGCCTCATATTCCCCCCACTGTGTGG ACCCTTCTCAAATCCCCCCTAATGTCAGCAACTTCCCTAAATCCCCCAAC TGTGTTCAACCTCCCCAAATCCCTCCCACTGTGTGCAGCCTCCCCAAATC CTCCCGACTCTGTGCAACCTCCCAAAATTGCCCCCACTGTGTTCAACCTC CCCAAATCCCT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01167.hp2 others(23): Show HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG02004.hp2 HG02080.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG03654.hp2 HG04204.hp2 NA18962.hp2 NA18985.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0019	a0001c0001 a0002c0002 a0002c0015 others(7): Show a0001c0001 a0002c0002 a0002c0015 a0003c0003 a0003c0006 a0007c0026 a0008c0011 a0008c0016 a0008c0028 a0019c0024	a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 others(11): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 a0002c0015t0003 a0002c0015t0004 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0007c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003 a0019c0024t0005	a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 others(22): Show a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0006g0027 a0002c0015t0003g0111 a0002c0015t0004g0112 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0006t0004g0100 a0003c0006t0004g0103 a0003c0006t0011g0085 a0007c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003 a0019c0024t0005g0009	26	130	0.2000	-260	c.261 others(19): Show c.2619-9424_2619-9165del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIL_chr7_28948358_28963330	28961155	AGAGCTGG others(253): Show AGAGCTGGGAAGGACAGCCGTGGGCCAGTGAGTGACCTTTCACACTCTAA TCCTGGGCTTCTCAAATTTTGAAGACAGGCCTGTCTATATGCAGCTGTTT TTGGAGGGGAGAAAGTAAATGTACTTTGATTTTAGAAAGTACAAGAAGAA AAAAATCAGGAGTTTGAAGGAAAGTGGGTTTTTTGTTTTGTTTTGTTTTT TTCCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCA AGCCTCCTGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA19030.hp1 HG03486.hp1 NA19030.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0000 a0001c0010t0017g0000	2	422	0.0047	-260	c.-33 others(11): Show c.-3369_-3110del	TRIL	ENSG00000255690.3	transcript	ENST00000539664.3	protein_coding		2826		chr7	TogoVar
TRIP13_chr5_887884_923120	899592	GTCAGTGT others(253): Show GTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 NA19240.hp2 HG01891.hp2 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0151 a0001c0001t0002g0042 a0001c0001t0002g0151	3	402	0.0075	-260	c.389 others(15): Show c.389-839_389-580del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar

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