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
CDH4_chr20_61247261_61945617	61784003	AATGTAAG others(492): Show AATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTCTTG TGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCC CTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGAC AGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCA GTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAG AATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTCTTG TGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCC CTCCGATATCCTGTGCCCCCAGGAGAATGTAATCCCAGTTCCTCGGGACA GTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCA GTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0039 a0001c0001t0018g0039	1	106	0.0094	-499	c.576 others(19): Show c.576+10823_576+11321del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784136	TCCCAGTT others(492): Show TCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCC AGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTG TCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGA GGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCG GGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAT CCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCA AGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATA TCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGA GGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCG GGACAGTTCTCCAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0046 a0001c0007t0046	a0001c0007t0046g0066 a0001c0007t0046g0066	1	106	0.0094	-499	c.576 others(19): Show c.576+10965_576+11463del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
GAL3ST2_chr2_241771822_241809287	241806908	CCACCTTC others(492): Show CCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA19089.hp1 HG01891.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0087 a0002c0002t0001g0008 a0001c0001t0001g0087 a0002c0002t0001g0008	2	314	0.0064	-499	c.27 others(11): Show c.2743_*3241del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2622		chr2	TogoVar
IDI1_chr10_1034419_1054119	1047071	CTGTCTAC others(492): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	438	0.0023	-499	c.140 others(17): Show c.140+1294_140+1792del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
KIR3DL1_chr19_54811468_54835778	54832885	ATGGGCCT others(492): Show ATGGGCCTGGAGTGGAGATCTGGGCCTAGAGATGGAGTGATGAGCCTAGA AGTGGAGATCTGCGCCTGGAGTGGAGATCTGGGCCTGGAGTGAAGATCTG GGCCTGGAGTGGAGATATGGGCCTGGAGTGGGGATAGGAACCTGGAGTGG AGAGAGGAACCTGGAGGAGAGATAGGAACCTGGAGGGGAGGTAGGAGCCT AGGGTGGAGATATGGGACTGGAGTGGAGATATGGGACTGGAGTGGAGATA TGGGCCTGGAGTGGAGTTATGGGCCTGGAGTGAAGTTATGGGCCTGGAGG TGGAGATACGGGCCTGGAGTGGAGATATGAGCCTGGAGTGGAGATATGGT CCTGGAGTGGAGATATGGGCCTGGAGTGGAGATATGGGTCTGCAGTGGAG TTATGGGCCTGGAGTGAAGTTATGGGCCTGGAGGTGGAGATATGGGCCTG GAGTGGAGATATGGGACTAGAGTGGAGATAGGGGCCTGGAGGTGGAGATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0026 a0002 a0026	a0002c0002 a0002c0038 a0026c0037 a0002c0002 a0002c0038 a0026c0037	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(2): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0038t0002 a0026c0037t0002	a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0028 others(24): Show a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0121 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0012g0002 a0002c0002t0013g0002 a0002c0038t0002g0123 a0026c0037t0002g0125	62	395	0.1570	-499	c.26 others(11): Show c.2611_*3109del	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding		2108		chr19	TogoVar
LAMA3_chr18_23684453_23960066	23709456	TGTTTTTT others(492): Show TGTTTTTTTCTCCTGCCTTTAAAAAAATCCTTCTTGTTCTTGTCTCTTGC CCATTTTTTACTTTCAATTCTTGTGGAAAACACCAGGTTGAGTCAGAAAT AGCAGAGACTTATAAATATATAAGACCTTTTATTTTGTGTATGACCATGA AGCAGTAAAGTTGGTATAAGCGTCTGTTGGAAGATATGGCTACAGAAAAA ATAAAGTGGCCTGTCCCAGTGATACTCATGGGAAGGAAAGAGCCTCCTCA ATGATCTTCCATCTGAGAAGTCCCATGGATTCTTTTCTCTTCTGCTCCAC AAGTTTGATTGTCTTTTCTTTCTTTCTTTCTTTTTTTCTGGTGAATTAGC CAGCCAGACTCAGTTTAGATGATCCCAATTTTGTTGGCAACATCCAAAGC ATTGTAATCAGGAGCCAGTTGAACATATGCCTTCTTCTCTCCATCAGGCC TAATCAGGGTGTTGACTTTGGCCACATCAATGTCATAGAGCTTCTTCACA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0173 a0001c0023t0001g0173	1	280	0.0036	-499	c.295 others(17): Show c.295-4462_295-3964del	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	1/74		INFO_REALIGN_3_PRIME	chr18	TogoVar
MYOM2_chr8_2040046_2150456	2085779	CCCCTACT others(492): Show CCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCG TGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTG CGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATC TCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGA TCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTC GTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTAC TGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCC CCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGG CCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTGG CCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02165.hp2 NA19085.hp1 others(1): Show HG00673.hp1 HG02165.hp2 NA19085.hp1 NA19088.hp2	a0003 a0012 a0057 a0003 a0012 a0057	a0003c0001 a0012c0151 a0057c0167 a0003c0001 a0012c0151 a0057c0167	a0003c0001t0001 a0012c0151t0001 a0057c0167t0001 a0003c0001t0001 a0012c0151t0001 a0057c0167t0001	a0003c0001t0001g0235 a0003c0001t0001g0266 a0012c0151t0001g0294 others(1): Show a0003c0001t0001g0235 a0003c0001t0001g0266 a0012c0151t0001g0294 a0057c0167t0001g0399	4	403	0.0099	-499	c.164 others(17): Show c.1644+393_1644+891del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241806908	CCACCTTC others(492): Show CCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02055.hp1 others(1): Show HG01192.hp2 HG01891.hp1 HG02055.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0002c0003 a0001c0004 a0001c0005 a0002c0003	a0001c0004t0001 a0001c0005t0001 a0002c0003t0002 a0001c0004t0001 a0001c0005t0001 a0002c0003t0002	a0001c0004t0001g0005 a0001c0004t0001g0109 a0001c0005t0001g0115 others(1): Show a0001c0004t0001g0005 a0001c0004t0001g0109 a0001c0005t0001g0115 a0002c0003t0002g0013	4	319	0.0125	-499	c.-23 others(11): Show c.-2369_-1871del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2284		chr2	TogoVar
NSL1_chr1_212721153_212796777	212779304	AGCCAGCC others(492): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTCCCG GCCAGCCGCCCCATCTCAGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCACGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGTGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGTCAGCTGCCCCATCTGGGAGGTGAG GGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCACTGCC CGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18980.hp2 NA19055.hp1 others(1): Show NA18948.hp1 NA18980.hp2 NA19055.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0072 a0001c0001t0101 a0001c0001t0006 a0001c0001t0072 a0001c0001t0101	a0001c0001t0006g0257 a0001c0001t0006g0260 a0001c0001t0072g0258 others(1): Show a0001c0001t0006g0257 a0001c0001t0006g0260 a0001c0001t0072g0258 a0001c0001t0101g0259	4	364	0.0110	-499	c.499 others(17): Show c.499+2569_499+3067del	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar
PLEKHA7_chr11_16772297_17019414	16916364	TCTACCGC others(492): Show TCTACCGCAGAAAACCATGCTCAGAACATGGGCTCTGACACCTAAAGACC TGGATTCGAATCTCAGCCCCACTACTTACAAGCTGTGTGCTGTTGGGCCT GATTAACTTAAGTCTCATTTCCCTCAATCATAGGATGAGGAAAACAGTCC CTACCTCAGGCAATTGTTTTGAAGATTAGATCGGACAATGTGTAAAAAAG CCACGGCAGTGCCTGGAACAATCAACTCTATTATCACACAACCCTGAAGA GGAAACAGGACTTTTCAACCTATCTCCCCAATTATGCAAGGCCCAAAAGG CTTAAGTCTGAAAACAGCCACAGAGACTGCACCAATTTAGATGGAACCAG CTTTCTCCCTTGCAAGGACTGCCAGTAAGCTCCACCTAGTTTTCTGATCT GACTGAGATGACATTGATGCTCTTTTTTTCCCACCATAAAGGCTCTTCCC TGCCCACCTTCCTCCAACTTATCCTCAGTGGCACCCCTGAGGTCAGGCTG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	244	0.0041	-499	c.222 others(19): Show c.222-45681_222-45183del	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43280962	GGCCACCC others(492): Show GGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGC CACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCAT CCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCAC CCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCT GTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGT CACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCAT CTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTC CCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTC CCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCT CAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCATCTCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18969.hp2 NA19007.hp2 others(1): Show HG03540.hp2 NA18969.hp2 NA19007.hp2 NA19009.hp1	a0001 a0008 a0001 a0008	a0001c0024 a0008c0017 a0001c0024 a0008c0017	a0001c0024t0083 a0008c0017t0024 a0008c0017t0057 others(1): Show a0001c0024t0083 a0008c0017t0024 a0008c0017t0057 a0008c0017t0058	a0001c0024t0083g0194 a0008c0017t0024g0162 a0008c0017t0057g0121 others(1): Show a0001c0024t0083g0194 a0008c0017t0024g0162 a0008c0017t0057g0121 a0008c0017t0058g0165	4	280	0.0143	-499	c.484 others(18): Show c.484+9585_484+10083del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SLC66A2_chr18_79897420_79956653	79920541	CAGGAACC others(492): Show CAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGG GAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAG AGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCG AGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTC AAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAG GAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAA CCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGA GGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02559.hp1 HG02615.hp2 others(2): Show HG01981.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0020 a0001c0001t0013 a0001c0001t0020	a0001c0001t0013g0040 a0001c0001t0013g0049 a0001c0001t0013g0059 others(2): Show a0001c0001t0013g0040 a0001c0001t0013g0049 a0001c0001t0013g0059 a0001c0001t0013g0117 a0001c0001t0020g0181	5	352	0.0142	-499	c.392 others(17): Show c.392-1640_392-1142del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SMYD3_chr1_245744347_246512279	246389255	GGGACCTC others(492): Show GGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGA AGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCA CCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCAT TCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTA GAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGG GACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAG TCAGTTTCTAGAGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCAC CTCGAGGTTGAAGTCAGTTTCTAGAGGACCTCCTTGTAGAAAGCATTCAT TCTTGAAAATCACCTCAAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTA GAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTAGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0126 a0002c0004t0001g0126	1	150	0.0067	-499	c.165 others(19): Show c.165-34660_165-34162del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNX8_chr7_2246770_2319441	2267784	TGTGAGGA others(492): Show TGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTC TCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGC CGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATAGT CTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATGTGAGG AGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTG CCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCACCA CCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGCGTCAGCCCTCCGC CCGGCCAGCCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCGAGA CCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02615.hp2 HG02965.hp2 others(7): Show HG01081.hp2 HG02615.hp2 HG02965.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0008 a0002c0004t0008 a0001c0001t0008 a0002c0004t0008	a0001c0001t0008g0001 a0001c0001t0008g0048 a0001c0001t0008g0096 others(6): Show a0001c0001t0008g0001 a0001c0001t0008g0048 a0001c0001t0008g0096 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0008g0125 a0001c0001t0008g0162 a0001c0001t0008g0170 a0002c0004t0008g0365	10	370	0.0270	-499	c.621 others(17): Show c.621+1276_621+1774del	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar
TPO_chr2_1408463_1548673	1535466	ATCAGCCC others(492): Show ATCAGCCCCACTCCGTGCAACCTCCGCCTATCCCTCCCACTGGGTGCAAC CTCCCCAAATCCCCGTGTGCCACTTCCCCAAATCACCACATTGTGAGCAA CCTCCCCAAATCCCCCCACTGCGAAGACCTCCTCAAATTGCCCCGCAGTG TACAACCTCCTCAAATCCTCCCTCGCTGTGTGCAACCTCCTCAAATCCCC CCACTCTGTGCAACCTCCCCACATGCCCCCAGTGTGTGCAACCTCCCGAA ATCCACCCAGTGTGTGCAACCTCCCCAAATCCCCCCACTCTGTGCAACCT CCCGAAATCCCCCCAACTCTGTGCAACCTCCGCCATCCCTCCCACTGTGT GCAACCTGCTCAAATCCCCAAACTGTGTGCAACCTCCCCGAATCCCCCCA ACTTTGTGCAACCTCAAGTCCCCGAATGTGTGCAACCCCCCCAAATCCCG TGTGCAACCTCCCCAAATCCCCCACACTATGTGCAACCTCCTCAAATCCC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG02080.hp2 others(12): Show HG00408.hp2 HG00423.hp1 HG02080.hp2 HG03654.hp2 HG04204.hp2 NA18612.hp2 NA18985.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0019	a0001c0001 a0002c0015 a0003c0003 others(3): Show a0001c0001 a0002c0015 a0003c0003 a0003c0006 a0004c0005 a0019c0024	a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 others(5): Show a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0004c0005t0005 a0019c0024t0005	a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 others(11): Show a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0103 a0003c0006t0011g0085 a0004c0005t0005g0071 a0019c0024t0005g0009	15	130	0.1154	-499	c.261 others(19): Show c.2619-5127_2619-4629del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133291455	CCCCGTGT others(492): Show CCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGG AGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGT GTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCT CCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCAT GCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT CCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCC TCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0196 a0001c0001t0001g0171 a0001c0001t0001g0196	2	284	0.0070	-499	c.121 others(18): Show c.1214+545_1214+1043del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ABCB5_chr7_20610667_20762008	20720127	GAAAATCA others(491): Show GAAAATCATTTTGTGTCAGAAAGTAAGGACATATTCCAAAACTGATAGGT ATATGTCAAAGGACAAAGCCAACGTGAAGGGACTTCCACTGGCTACATCT GGGATAATTTGAGTCAAAATAAATGATTATAGTAACAGGTTATAAACAAC TGAAGAAATTTAAAAGTCATTAGTTCATACTACAATAAATAAGTTGAAAG TTTGATGAGAAATTGGATTTTGACATAGCTTCAAAGTGCTTCAAGACATT TATTAATTACAAAGGGAGAAAGAACAACTTCATAGCGGAGAAACCTGGAA GAAACCATCTTAATTAATTATTACAAGTGAACAATGCCTGGAATGGGACC AATCAAAACTGCGTGCCACTTGATAGGATGCAATGAGAAGAACACAGCAT CACTTCTCTAAGATGCATAATTTGAATCTAATTGTGAGGAAATATCAGAT AAGCTAAAATTGAGAAATTTCTACCAGATATCTGGCTCGCGATCTTCAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0031 a0031	a0031c0109 a0031c0109	a0031c0109t0022 a0031c0109t0022	a0031c0109t0022g0356 a0031c0109t0022g0356	1	360	0.0028	-498	c.242 others(19): Show c.2422-2884_2422-2387del	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
AP1S3_chr2_223750326_223842582	223817623	AAGAAAAG others(491): Show AAGAAAAGAAAACTATTTGGAAGAGTTTGGGACCACATCTCTGGGGAAAG ATGCCCTGTTTGGCTTCTCTGAGTATCCGCTGTTGATTTATTTAACTGGA ATGGAGATAGACACAACAGCTATGAGCTGAAGAACATCAGAGACTATTTG GCCCACTAACTCTTACTACTCTGATTCTAAGCTCTCCCAAGAAATTTTCT GATCATCATCTAACTTCCCAGGAGACCTTTTTCCAAAAAAAGACAAATAT GATGACCAAATAATAAGAACATGGTATTCTACACGACAATTACATTCATC AATAAAAATGACCCACTGCATGGCAGGTGTGATGCTGGGCACTTTTATAT ACATTATATTGTTTAATCCACAAATCTAGGCAATGTGTCATATTGAAGAC AAAAAAGATTAAGTTGTTGGCAGTTGAAAGACTTTCCCAGAATTATCAAA ATATAGGTGGCAGGGTAGGTATCAAATGCAGCTTGGATTCTATACTTCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp2 HG02451.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0053 a0001c0001t0047 a0001c0001t0053	a0001c0001t0047g0322 a0001c0001t0053g0321 a0001c0001t0047g0322 a0001c0001t0053g0321	2	340	0.0059	-498	c.3+1 others(15): Show c.3+19327_3+19824del	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
CAMK1D_chr10_12344547_12840545	12775622	AGGTGAGA others(491): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18989.hp2 NA18990.hp1 others(1): Show NA18977.hp1 NA18989.hp2 NA18990.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0048	a0001c0001t0001g0051 a0001c0001t0002g0193 a0001c0001t0005g0054 others(1): Show a0001c0001t0001g0051 a0001c0001t0002g0193 a0001c0001t0005g0054 a0001c0001t0048g0182	4	214	0.0187	-498	c.565 others(17): Show c.565+5825_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPH7_chr9_137549444_137583925	137565662	TCTGTCTG others(491): Show TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	340	0.0029	-498	c.641 others(16): Show c.641-1006_641-509del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241807027	TCCCCCCT others(491): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCC CTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	314	0.0032	-498	c.28 others(11): Show c.2862_*3359del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2741		chr2	TogoVar
IL2RA_chr10_6005689_6067367	6055407	CTTGGCCA others(491): Show CTTGGCCATCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAC CGCCCTTAATCCATTTAATCCTGAGTGGACACAGCACATGTTTCAGAGAG CACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGA ATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACCTCTCT CTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTC CCGCCTTTCCATTCCACAAAGCCGCCATTGTCATCCTGGCCCGCTCTCAA TGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCCCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCCGACTCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0002c0005 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0026 a0001c0003t0002 a0001c0003t0007 a0001c0003t0029 a0001c0004t0008 a0001c0004t0013 a0001c0006t0001 a0001c0007t0008 a0002c0005t0001 a0003c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0041 others(297): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0211 a0001c0001t0001g0243 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0335 a0001c0001t0001g0346 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0374 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0085 a0001c0001t0002g0099 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0270 a0001c0001t0002g0276 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0352 a0001c0001t0002g0356 a0001c0001t0002g0361 a0001c0001t0002g0364 a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0375 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0057 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0087 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0292 a0001c0001t0003g0315 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0344 a0001c0001t0003g0347 a0001c0001t0003g0376 a0001c0001t0003g0384 a0001c0001t0003g0393 a0001c0001t0004g0016 a0001c0001t0004g0020 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0101 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0207 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0242 a0001c0001t0004g0272 a0001c0001t0004g0274 a0001c0001t0004g0277 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0332 a0001c0001t0005g0271 a0001c0001t0005g0320 a0001c0001t0005g0326 a0001c0001t0005g0363 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0054 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0007g0028 a0001c0001t0007g0030 a0001c0001t0007g0040 a0001c0001t0007g0049 a0001c0001t0007g0061 a0001c0001t0007g0063 a0001c0001t0007g0070 a0001c0001t0007g0076 a0001c0001t0007g0089 a0001c0001t0007g0097 a0001c0001t0007g0105 a0001c0001t0007g0110 a0001c0001t0007g0269 a0001c0001t0007g0275 a0001c0001t0008g0005 a0001c0001t0008g0060 a0001c0001t0008g0088 a0001c0001t0008g0212 a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0304 a0001c0001t0008g0325 a0001c0001t0009g0036 a0001c0001t0009g0293 a0001c0001t0009g0392 a0001c0001t0010g0004 a0001c0001t0010g0021 a0001c0001t0010g0025 a0001c0001t0010g0029 a0001c0001t0010g0330 a0001c0001t0011g0022 a0001c0001t0011g0204 a0001c0001t0011g0285 a0001c0001t0011g0286 a0001c0001t0012g0068 a0001c0001t0012g0078 a0001c0001t0012g0086 a0001c0001t0014g0127 a0001c0001t0014g0205 a0001c0001t0016g0027 a0001c0001t0018g0290 a0001c0001t0019g0019 a0001c0001t0020g0248 a0001c0001t0021g0331 a0001c0001t0024g0316 a0001c0001t0025g0333 a0001c0001t0027g0231 a0001c0001t0028g0071 a0001c0002t0002g0279 a0001c0002t0003g0245 a0001c0002t0003g0247 a0001c0002t0003g0287 a0001c0002t0004g0249 a0001c0002t0005g0001 a0001c0002t0005g0244 a0001c0002t0005g0246 a0001c0002t0005g0250 a0001c0002t0005g0251 a0001c0002t0005g0252 a0001c0002t0005g0253 a0001c0002t0005g0254 a0001c0002t0005g0255 a0001c0002t0005g0256 a0001c0002t0005g0257 a0001c0002t0005g0258 a0001c0002t0005g0260 a0001c0002t0005g0262 a0001c0002t0005g0263 a0001c0002t0005g0278 a0001c0002t0005g0282 a0001c0002t0005g0365 a0001c0002t0005g0366 a0001c0002t0005g0369 a0001c0002t0026g0261 a0001c0003t0002g0008 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0039 a0001c0003t0002g0046 a0001c0003t0002g0100 a0001c0003t0002g0102 a0001c0003t0002g0104 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0119 a0001c0003t0002g0273 a0001c0003t0007g0115 a0001c0003t0007g0118 a0001c0003t0029g0394 a0001c0004t0008g0327 a0001c0004t0013g0280 a0001c0006t0001g0073 a0001c0006t0001g0075 a0001c0007t0008g0047 a0002c0005t0001g0017 a0002c0005t0001g0026 a0003c0008t0001g0043	317	414	0.7657	-498	c.64+ others(15): Show c.64+6183_64+6680del	IL2RA	ENSG00000134460.19	transcript	ENST00000379959.8	protein_coding	1/7			chr10	TogoVar
KLK4_chr19_50901351_50916395	50913567	CATCTTTC others(491): Show CATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTC TGTCTCCGCACCTGTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATC TCTGTCTCTGTCTCTCTGTCTGTCTCTGCACCTGTGTCTGTCCATCTTTC TCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTC CGCACCTGTGTGTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATC TCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCACCTGTGTCTCTGTCCATC TTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTG TGGCTTCGCACCTGTCTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCC CATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTC CATCTTTCTCTGTCTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	414	0.0024	-498	c.-27 others(11): Show c.-2738_-2241del	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		2173		chr19	TogoVar
NEU4_chr2_241804193_241822413	241807027	TCCCCCCT others(491): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCC CTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0126 a0002c0003t0002g0126	1	319	0.0031	-498	c.-22 others(11): Show c.-2250_-1753del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2165		chr2	TogoVar
PERM1_chr1_970198_987093	977342	CCCCCACC others(491): Show CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGA ACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCC CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTC CCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACC CCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGC TCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAAC CCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01243.hp1 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0018 a0003c0003 a0003c0018	a0003c0003t0001 a0003c0018t0001 a0003c0003t0001 a0003c0018t0001	a0003c0003t0001g0259 a0003c0018t0001g0237 a0003c0003t0001g0259 a0003c0018t0001g0237	2	408	0.0049	-498	c.214 others(18): Show c.2149+1041_2150-719del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977342	CCCCCACC others(491): Show CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGA ACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCC CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTC CCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACC CCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGC TCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAAC CCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01243.hp1 HG01243.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0006 a0001c0011 a0002c0006	a0001c0011t0011 a0002c0006t0030 a0001c0011t0011 a0002c0006t0030	a0001c0011t0011g0009 a0002c0006t0030g0115 a0001c0011t0011g0009 a0002c0006t0030g0115	2	422	0.0047	-498	c.27 others(11): Show c.2768_*3265del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1478		chr1	TogoVar
PRKCA_chr17_66297613_66815743	66798941	GTGGTGGT others(491): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0057 a0001c0002t0010g0057	1	178	0.0056	-498	c.185 others(19): Show c.1855-4917_1855-4420del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166481620	TTGCTGAG others(491): Show TTGCTGAGTTCTCTGATGAGATGGTAGACTGTACATATACCTCTCTGATA GATCTTAAAGTATGTGCTGCAGCGCGGAGAGCTCTGCTGAGTTCTCTGAT AAGATGGTAGACTGTACGTATACCTCTCTGATCAATCTTAAAGTATGTGC TACAGAGTGGAGGCCTCTGCTGAGTTCTCTGATAAGATGGCAGACTGCAG GTATACCTCTCTGATCGATCTTAAAGTATGTGCTGCAGTGTGGAGAGCTC TGCTGAGCTCTCTGATAAGATGGTAGACTGTATGTATACCTCTCTGATCA ATCTTAAAGTATGTGCTGCAGAGTGGAGGCCTCTGCTGAGTTCTCTGGTA AGATGGCAGACTGCACGTATACCTCTCTGATCGATCTTAAAGTATGTGCT GCAGCTTGGAGAGCTCTGCTGAGCTCTCTGATAAGATGGTAGACTGTACA TATACCTCTCTGATCAATCTTAAAGTATGTGCTGCAGAGTGGAGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19005.hp1 HG00544.hp2 NA19005.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0001 a0001c0014t0003 a0001c0004t0001 a0001c0014t0003	a0001c0004t0001g0087 a0001c0014t0003g0213 a0001c0004t0001g0087 a0001c0014t0003g0213	2	244	0.0082	-498	c.907 others(17): Show c.907+6715_907+7212del	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
SDK1_chr7_3296252_4274000	3962868	CCACAGCT others(491): Show CCACAGCTACCTGACCTGGACGTATCCAGTGAGTACACTCAGCCCCATGG CTACCTGGATGTAACCAGTGGGTACACCCAGGCTCACAGCTACCTGACCT GGACGTATCCAGTGAGTACACTCAGCTCCATGGCTACCTGGATGTAACCA CTGGGTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGT ACACTCAGCCCCATGGCTACCTGGATGTAACCAGTGGGTACACCCAGGCT CACAGCTACCTGATCTGGACGTATCCAGTGAGTACATTCAGCCCCATGGC TACCTGGATGTAATCAGTGGGTACACCCAGGCTCACAGCTACCTGACCTG GACGTATCCAGTGAGTACATTCAGCCCCATGGCTACCTGGATGTAACCAG TGGGTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGTA CATTCAGCCCCATGGCTATCTGGATGTAACCAGTGGGTACACCCAGGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00639.hp2 others(36): Show HG00408.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03688.hp1 HG03710.hp1 HG04228.hp2 NA18906.hp1 NA19043.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012 a0014 a0015 a0017 a0018 a0020 a0021 a0023 a0028 a0030 a0032	a0001c0002 a0001c0007 a0001c0008 others(32): Show a0001c0002 a0001c0007 a0001c0008 a0001c0032 a0001c0039 a0001c0040 a0001c0048 a0001c0062 a0001c0064 a0002c0009 a0002c0029 a0002c0041 a0002c0042 a0002c0043 a0003c0001 a0003c0033 a0004c0055 a0004c0056 a0004c0058 a0004c0065 a0005c0003 a0006c0006 a0007c0016 a0007c0077 a0012c0086 a0014c0083 a0015c0085 a0017c0024 a0018c0028 a0020c0089 a0021c0045 a0023c0035 a0028c0052 a0030c0073 a0032c0075	a0001c0002t0002 a0001c0002t0004 a0001c0002t0040 others(36): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0040 a0001c0007t0003 a0001c0008t0007 a0001c0032t0058 a0001c0039t0050 a0001c0040t0001 a0001c0048t0001 a0001c0062t0053 a0001c0064t0006 a0002c0009t0004 a0002c0009t0056 a0002c0029t0005 a0002c0041t0007 a0002c0042t0002 a0002c0043t0035 a0003c0001t0063 a0003c0033t0002 a0004c0055t0055 a0004c0056t0006 a0004c0058t0012 a0004c0065t0037 a0005c0003t0003 a0006c0006t0001 a0006c0006t0012 a0007c0016t0001 a0007c0077t0003 a0012c0086t0046 a0014c0083t0044 a0015c0085t0043 a0017c0024t0061 a0018c0028t0049 a0020c0089t0047 a0021c0045t0015 a0023c0035t0005 a0028c0052t0032 a0030c0073t0001 a0032c0075t0008	a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0002t0040g0084 others(36): Show a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0002t0040g0084 a0001c0007t0003g0033 a0001c0008t0007g0067 a0001c0032t0058g0043 a0001c0039t0050g0022 a0001c0040t0001g0040 a0001c0048t0001g0029 a0001c0062t0053g0042 a0001c0064t0006g0111 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0029t0005g0094 a0002c0041t0007g0108 a0002c0042t0002g0105 a0002c0043t0035g0079 a0003c0001t0063g0032 a0003c0033t0002g0103 a0004c0055t0055g0021 a0004c0056t0006g0098 a0004c0058t0012g0063 a0004c0065t0037g0065 a0005c0003t0003g0069 a0006c0006t0001g0036 a0006c0006t0012g0115 a0007c0016t0001g0114 a0007c0077t0003g0099 a0012c0086t0046g0012 a0014c0083t0044g0004 a0015c0085t0043g0010 a0017c0024t0061g0013 a0018c0028t0049g0035 a0020c0089t0047g0056 a0021c0045t0015g0046 a0023c0035t0005g0058 a0028c0052t0032g0107 a0030c0073t0001g0015 a0032c0075t0008g0016	39	116	0.3362	-498	c.142 others(16): Show c.1429+84_1429+581del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	9/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3963253	CCTGGATG others(491): Show CCTGGATGTAACCAGTGGGTACACCCAGGCTCACAGCTACCTGACCTGGA CGTATCCAGTGAGTACATTCAGCCCCATGGCTATCTGGATGTAACCAGTG GGTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGTACA CTCAGCCCCATGGCTACCTGGATGTAACCACTGGGTACACCCAGGCTTAC AGCTACCTGACCTGGACGTATCCAGTGAGTACACTCAGCCCCATGGCTAC CTGGATGTAACCAGTGGGTACACCCAGGCTCACAGCTACCTGATCTGGAC GTATCCAGTGAGTACATTCAGCCCCATGGCTACCTGGATGTAATCAGTGG GTACACCCAGGCTCACAGCTACCTGACCTGGACGTATCCAGTGAGTACAT TCAGCCCCATGGCTACCTGGATGTAACCAGTGGGTACACCCAGGCTCACA GCTACCTGACCTGGACGTATCCAGTGAGTACATTCAGCCCCATGGCTAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0009 a0009	a0009c0079 a0009c0079	a0009c0079t0054 a0009c0079t0054	a0009c0079t0054g0073 a0009c0079t0054g0073	1	116	0.0086	-498	c.142 others(17): Show c.1429+465_1429+962del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	9/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMYD3_chr1_245744347_246512279	246388568	AGGGGACC others(491): Show AGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTAGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAA TCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATT CATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTT GTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCT GGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTC ATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTG TAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	150	0.0067	-498	c.165 others(19): Show c.165-33972_165-33475del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133291240	TCCGTGTC others(491): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCC CATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTC CCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCG TGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp1 HG02056.hp2 others(20): Show HG00438.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02976.hp1 HG03195.hp2 HG06807.hp2 NA18943.hp2 NA18952.hp1 NA18963.hp1 NA18990.hp1 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19083.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0002 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0004t0002 a0002c0003t0002 a0002c0003t0006	a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0136 others(20): Show a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0004t0002g0038 a0002c0003t0002g0072 a0002c0003t0002g0082 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0006g0080	23	284	0.0810	-498	c.121 others(18): Show c.1214+761_1214+1258del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TYK2_chr19_10345533_10385572	10385074	CTTTTTTG others(491): Show CTTTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GTCTTGAACTGCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGT GCTGGGTAATACTGGTGTGAGACACCGTGCCCGGCCTAGAGAGTGCCAGA TTTTTCAACAGCCATTGGGGCAATGCTCCGTGATTAGATGCTAGAACACA GTGGGCCGAGTGGGCCTGGGACCCGGTATTCCCCGCTCCCAAAGGAACTA GAAGGAAATGCCACATGAGGCGATTAATAATAACAATGCTAGTCATACTC CCAGTAACGATATCAATTCTAACAATGAGCTGGTGCGGTGGCTGGCACCT GTAATCCCAGCACTTTGAGAGACAGAGGCAGGAGGATCGCTTGAACCCAG GAGTCCCAGACCAGCCTGGGCAACATAGTGAAACCTCGTGTCTACAAAAA AAATTTAAAAATTAGCTGGGCATGGTGATACACGCCTGTAGTCCCAGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG03927.hp1 NA19070.hp1 HG02165.hp1 HG03927.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0189 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0189	3	376	0.0080	-498	c.-53 others(11): Show c.-5378_-4881del	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding		4503		chr19	TogoVar
ZNF525_chr19_53360705_53391590	53369383	TGCCCAGC others(491): Show TGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTG GCCAGGTTGGTCTCAAACTCCTGAACTCAGGTGATCCACCTGCCTTAACC TCCTAAAGTACTGGGATTACAAGCATGATCCATTGTTCCCGGCCACCCAT GTATTCTTGATGGAAACAATTTGCTTATGTCTTAGTTCTACAGCTGACCT TCTTTTCACTGTTTTTAAGGTCAATAGCTGTGGGTTCGCACTTCTGCATT TTATAAATGTTACTGTGATTTTCTTGTAAGGAAGAATTAAACGTCGGGAA CCAAAGGCAACAGAACCTTGCAAAAGAAGTTTCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAGT GGCGCGATCTGGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG00741.hp1 others(20): Show HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01496.hp2 HG02015.hp2 HG02717.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03486.hp1 HG03579.hp2 HG03942.hp1 NA18906.hp1 NA18975.hp2 NA19030.hp2 NA19064.hp1 NA19079.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0005c0008	a0001c0001t0055 a0002c0002t0002 a0002c0002t0007 others(8): Show a0001c0001t0055 a0002c0002t0002 a0002c0002t0007 a0002c0002t0014 a0002c0002t0035 a0002c0002t0043 a0002c0002t0046 a0002c0002t0063 a0002c0002t0067 a0003c0004t0026 a0005c0008t0014	a0001c0001t0055g0102 a0002c0002t0002g0005 a0002c0002t0002g0038 others(13): Show a0001c0001t0055g0102 a0002c0002t0002g0005 a0002c0002t0002g0038 a0002c0002t0002g0112 a0002c0002t0002g0120 a0002c0002t0007g0090 a0002c0002t0014g0035 a0002c0002t0014g0099 a0002c0002t0014g0104 a0002c0002t0035g0175 a0002c0002t0043g0005 a0002c0002t0046g0005 a0002c0002t0063g0101 a0002c0002t0067g0091 a0003c0004t0026g0174 a0005c0008t0014g0089	23	442	0.0520	-498	c.-67 others(17): Show c.-67-2800_-67-2303del	ZNF525	ENSG00000203326.12	transcript	ENST00000474037.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ASAP1_chr8_130047104_130448674	130049414	GGGGGCAG others(490): Show GGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGA GGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACAC ATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGC AGAGGGGAATACATGGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGA ACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGG GGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGG GGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACA TGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCA GAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0257 a0002c0002t0003g0257	1	308	0.0033	-497	c.48 others(11): Show c.4820_*5316del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2689		chr8	TogoVar
ASMT_chrX_1610059_1648081	1639540	CTGTGTGT others(490): Show CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	223	0.0045	-497	c.910 others(17): Show c.910+2989_911-2758del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640693	CTGTGTGT others(490): Show CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA GTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	223	0.0045	-497	c.911 others(17): Show c.911-2101_911-1605del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
DLGAP2_chr8_732628_1713476	1642407	GCCGGTCC others(490): Show GCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTC ACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCTCGAACCCGCCAGCC CTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCG ACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCT GTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGC CGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCAC CCTCGAACCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCT CACCTGTGTCACCCCTCGAACCCGCCAGCCCTCACCTGTGTCACCCTCGA CCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTG TGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	-497	c.181 others(19): Show c.1810+9423_1810+9919del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERC1_chr12_986223_1500931	1090402	GAAAGTGC others(490): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTGTGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTG AGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTG TTGTTGTTGTTGTTGTTATTATTATTATTATTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02451.hp2 others(2): Show HG01109.hp1 HG01884.hp2 HG02451.hp2 HG02559.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0039 a0002c0002t0080 others(1): Show a0002c0002t0001 a0002c0002t0039 a0002c0002t0080 a0002c0002t0081	a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0039g0151 others(2): Show a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0039g0151 a0002c0002t0080g0127 a0002c0002t0081g0123	5	162	0.0309	-497	c.108 others(19): Show c.1086+6823_1086+7319del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18			chr12	TogoVar
HS3ST2_chr16_22809162_22921338	22844980	AAGTAGCT others(490): Show AAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTTGT ATTTTTAGTATAGACAGGATTTCACTGTGTTAGTTAGGATGGTCTGGATC TCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGTTGGGATTAC AGGCGTGAGCCACTGCGCCTGGCCTAAATCTTTTTTCTTGGTAAGTTACC CAATCTCAAGTACTTCTTTATAGCATTGGGAGAACAGACTAATATAGGGG GCAGTACAACTTCATCCACTAAGGCTCTGTAGACTACTGTAGCATCATTC CAGCTGCCAATGCTCTCATCACTTCTGCCATTCAGGAATTTCCTTTTTTG TGTGAACTCATCTATTTATTTGTGATTTTTTTTTTTTTTTGAGATGGAGT CTCACACTGTCACCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTG TAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02451.hp1 others(30): Show HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02723.hp1 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18955.hp2 NA18957.hp2 NA18967.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA19074.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0004t0002 a0001c0005t0002 a0001c0006t0006 a0001c0011t0011	a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0001g0167 others(30): Show a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0277 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0337 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0091 a0001c0002t0001g0108 a0001c0002t0001g0120 a0001c0003t0003g0018 a0001c0004t0002g0149 a0001c0004t0002g0266 a0001c0004t0002g0267 a0001c0004t0002g0307 a0001c0005t0002g0041 a0001c0005t0002g0060 a0001c0006t0006g0022 a0001c0011t0011g0003	33	350	0.0943	-497	c.485 others(19): Show c.485+29904_485+30400del	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNG2_chr18_79792938_79905100	79886231	GGGGACAC others(490): Show GGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACG GGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGT GGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATA GGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGG GAACATAGGGACGTGGGGACAGGGACACGGGACAGGGAGATGGGGATGGG AACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGG GGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGG GAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACG GGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGG GGACACAAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02647.hp2 HG02523.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0208 a0001c0001t0001g0173 a0001c0001t0001g0208	2	312	0.0064	-497	c.625 others(19): Show c.625-12582_625-12086del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFE2L3_chr7_26147198_26192137	26176675	GCGCTCCT others(490): Show GCGCTCCTCACTTCCCAGACGGGGTGGCCAGGCAGAGGCGCTCCTCACAT CCCAGACGATGGGCAGCCGGGCAGAGGCGCTCCTCACTTCCCAGACGGGG TGGCCAGGCAGAGGCGCTCCTCACTTCCCAGACGGGGTGGCCAGGCAGAG GCGCTCCTCACTTCCCAGACGATGGGTGGCCGGGCAGAGGCACTCCTCAC CTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGATG GGCGGCCAGGCAGAGATGCTCCTCACTTCCTAGACGGGGTGGCAGCCGGG CAGAGGCGCTCCTCACATCCCAGACGGGGTGGCCGGGCAGAGGCGCTCCT CACATCCCAGACGATGGGCGGCCAGGCAGAGATGCTCCTCACTTCCTAGA CGGGGTGGCAGCCGGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGCC GGGCAGAGGCGCTCCTTACATCCCAGACGATGGGTGGCCAGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03834.hp1 HG02738.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0208 a0001c0001t0001g0186 a0001c0001t0001g0208	2	400	0.0050	-497	c.571 others(16): Show c.571-1253_571-757del	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	870973	CTCCGCCT others(490): Show CTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGATTACAGGCGCGTGCCACCACGCCCGGCTAATTTTTGTGTTTTTAG TAGAGACGGGGTTTCTCCTTGTTGCTCTGGCTGGTCTCGAACTCCCGACC TCAGCCCTCTTTTTAAAATTTCTGCTAACTTGATAGGTGAAAAACAGTAG TTTATTTAATCTGCATTTCTCTGTATTTCAGATGCATGCTGCCTTTTTTG TAAATTCTAGTCTTCTTTTTGTTCATTTACCTTTTGGGATCTTAGTTTCC TTATGAATATTTGAGCTTTTTAGTATGTAAATAATAATCATGTGTCATTC TGTTACAGACATACTTTCCATTGTTGCTCTTAATTTTGTATTAACACTCA GATGCCCTGAGTCTTTCAGAGGTTTTTATTTTTTGAGACCGAGTCTCGCT CTGTCACCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAATG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0294 a0001c0006t0018g0294	1	418	0.0024	-497	c.214 others(18): Show c.2149-1454_2149-958del	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACAP3_chr1_1287391_1312930	1297193	ACGTGTGT others(489): Show ACGTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCGGTGGCACAT GTGTGCACGGGCTTGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGT GCACAGGCGCGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCAC GGGCTTGGGGCAGGGGCCATCCCCGGTGGCACGTGTGTGTGTGCACAGGC ACGGGGCAGGGGCCATCCCCAGTGGCACGTGTGTGTGTGCACAGGCGCGG GGCAGGGGCCATCCCCGGTGGCACATGTGTGCACGGGCTTGGGGCAGGGG CCATCCCCGGTGGCACGTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCAT CCCCGGTGGCACGTGTGTGTGTGCACGGGCTTGGGGCAGGGGCCATCCCC GGTGGCACGTGTGTGTGTGCACAGGCACGGGGCAGGGGCCATCCCCAGTG GCACGTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(78): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01081.hp2 HG01243.hp2 HG01358.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02809.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19030.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0001c0016 others(4): Show a0001c0001 a0001c0003 a0001c0016 a0001c0019 a0001c0020 a0004c0009 a0006c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0003t0002 a0001c0016t0002 a0001c0019t0002 a0001c0020t0002 a0004c0009t0003 a0006c0014t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 others(53): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0003g0002 a0001c0001t0003g0123 a0001c0001t0003g0135 a0001c0001t0003g0143 a0001c0001t0008g0112 a0001c0001t0010g0148 a0001c0001t0013g0128 a0001c0003t0002g0010 a0001c0003t0002g0107 a0001c0003t0002g0119 a0001c0003t0002g0134 a0001c0016t0002g0108 a0001c0019t0002g0133 a0001c0020t0002g0110 a0004c0009t0003g0124 a0006c0014t0002g0140	81	295	0.2746	-496	c.112 others(17): Show c.1128+133_1129-561del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23			chr1	TogoVar
ANKRD11_chr16_89262630_89495561	89481698	ACACAACC others(489): Show ACACAACCCAACTCCAGTCATGCTTCCAGGTTAATCTGCTGTCATCTTCC ATCTTCTTGGATGGGCTTTCGTGTTCAGACACGTCTGGCTGACATTCTCA CGTTACATGCGGCCTTCCCAGCCTTTGTCCCCAGCCTTCCCGAAGTCGAA GATGCCCTTACTCTGATTTCTGCAGTGACATTCTACTGATTCTTTTTTTA AAACAGAAACATAGCTTACAGTTAAAAAAAAAAAAAATAGCACTTCTTCC CTTAAATCTCCCAGGTCACAGAGCCTTTCCCTCCTCTGATCTATGATCTC TCTTTTCATAAGAACCAATATTTAATGCAAGCTTTAGTCAACTAAATGCA TCTTTCTCCCAGATCTCAGAACAGGAGGCCACAGCACTGCACCCAGTGAG CAGCCAATGAACATCTGTGAAGGAAATCAGTGAAACATCAGAAAAAGCAG AGTTTGTCTAGTTTCAGAAGTCCCTTCTATAAAACATGTAGCTCCTT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0154 a0004c0004t0001g0154	1	310	0.0032	-496	c.-14 others(19): Show c.-145+8051_-145+8546del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD33B_chr5_10559070_10662816	10639397	CGCGGCGA others(489): Show CGCGGCGATGTTAGCGGGTGACGCGGGGTTGCGCGGCGATGTTAGGCGGT GACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCG ATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGG AGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAG CGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCG CGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGA CGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGAT GTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAG TTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCG GGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02056.hp1 NA18969.hp2 HG00408.hp2 HG02056.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0044 a0001c0001t0001g0249 a0001c0001t0031g0082 a0001c0001t0001g0044 a0001c0001t0001g0249 a0001c0001t0031g0082	3	324	0.0093	-496	c.637 others(17): Show c.637+1252_637+1747del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLIP1_chr12_122266469_122427669	122365112	CATTAGGA others(489): Show CATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAAAGTATAATAATAATAAAATAAAAATAAAAAAAAG AAAGGTGATATTGTAGACATCAAAGGAATGCGTACTGTTCAAAAAGGAAT GCCCCACAAGTGTTACCATGGCAAAAGTGGAAGTCTACAATGTTACCCAG CATGCTGTTGGCATTGTTGTAAACAAACAAGGGCAAGATTCTTGCCAAGA GAAATAATGTGCGTATGGAGCACATTAAGCACTCTAAGAGCCAAGATAGC TTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGA GCAAGGGACCTGGGTTCAACTCAAGCGCCAGCCTGCTCCACCCAGAGAAG CACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCTGCTGGAACCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02723.hp2 others(2): Show HG02109.hp2 HG02572.hp1 HG02723.hp2 HG02922.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0009 a0001c0004t0010 a0001c0004t0005 a0001c0004t0009 a0001c0004t0010	a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0009g0050 others(2): Show a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0009g0050 a0001c0004t0010g0047 a0001c0004t0010g0051	5	234	0.0214	-496	c.658 others(17): Show c.658-1501_658-1006del	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	3/25			chr12	TogoVar
DCBLD2_chr3_98790941_98906695	98837114	CCCTCCCA others(489): Show CCCTCCCAGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGG GCAGGGGGGCTGACACCCCCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp2 HG02818.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0307 a0001c0003t0003g0308 a0001c0003t0003g0307 a0001c0003t0003g0308	2	330	0.0061	-496	c.571 others(19): Show c.571+11851_572-11749del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DPH7_chr9_137549444_137583925	137565898	TCTGTCTG others(489): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 NA19005.hp1 HG01256.hp1 HG01258.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0088 a0001c0001t0001g0007 a0001c0001t0001g0088	3	340	0.0088	-496	c.641 others(16): Show c.641-1240_641-745del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
NTN5_chr19_48656407_48678017	48669144	TCATCACC others(489): Show TCATCACCACCATCACCACCACCACCATCACCACCATGACCACCATCATC ACCACCATCACCATCACCACCACCACCACCACGACCATCATCACCACCAC CACCATCACCACCACCACGACCATCATCACCACCACCACCATCACCACCA CCATCACCACCACCACCATCACCACCACCATCACCACCACCACCATCACC ACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCAT CACCACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCA CCATCACCACCATGACCACCATCATCACCACCATCACCACCATCACCATC ACCACCACCACGACCATCATCACCACCACCACCATCACCACCACCATCAC CACCACCACCATCACCACCACCATCACCACCATCACCACCACGACCACCA TCACCACCACCACCATCATCACCACCATCACCACCACCAGTCATCAC	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	412	0.0024	-496	c.631 others(16): Show c.631+716_631+1211del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar

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Search Results (Total: 10000 hits)