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
DBNDD1_chr16_89999871_90024456	90003470	TACCTTTA others(543): Show TACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCC CGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	412	0.0024	-550	c.23 others(11): Show c.2315_*2864del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1400		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003501	ATGACTCC others(543): Show ATGACTCCCTCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGA CTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGG TGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACG TGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGATTCCCTCCCCC GGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCT CCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC TCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCT T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	412	0.0024	-550	c.22 others(11): Show c.2284_*2833del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1369		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003525	TACCTTTA others(543): Show TACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCC CGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCC TGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTTTGACTCCCTCCCCCGGCCCGGGC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	412	0.0024	-550	c.22 others(11): Show c.2260_*2809del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1345		chr16	TogoVar
DHRS12_chr13_51762993_51809163	51774349	TGTATTCT others(543): Show TGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTAC ATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTA CAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGT ATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTA CAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTA CATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACA GTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTAT TCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAG TATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACA TGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTAC A	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	420	0.0024	-550	c.364 others(15): Show c.364-865_364-316del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1016968	TGCCTCCA others(543): Show TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTG TGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCC TCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGAC CAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCC ACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACT GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGTGTGTATGACCAGGACAGACGGTGCCTCCACTGTG TGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGA C	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	-550	c.73+ others(19): Show c.73+109019_73+109568del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH1_chr8_659200_736224	675937	GCGCGGCG others(543): Show GCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCC CCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAG AGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAG A	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01256.hp1 others(7): Show HG00099.hp1 HG00099.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG02602.hp1 HG02647.hp2 NA18989.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0010c0015	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0003c0004t0002 a0010c0015t0001	a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0002t0001g0005 others(6): Show a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0002t0001g0005 a0001c0002t0001g0030 a0001c0002t0001g0076 a0001c0002t0001g0113 a0001c0002t0002g0279 a0003c0004t0002g0291 a0010c0015t0001g0084	10	378	0.0265	-550	c.305 others(17): Show c.305-2440_305-1891del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FLT3_chr13_27998274_28105576	28051794	TCTTGGCC others(543): Show TCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGTGCCCAG CCTAGAATTTCTTACTTATAAGATAATTCTACTTTAAAATCAGTATCTTT CTTTTTGCCCCAACCAGATGCCCAGGGAGCCAACAATCCTGGAACGTAGA GGGACTTTTACTTGTGTAGCATGATGCCCAGGAAGGGCCCTGCAGTTGAT TTGAGGGGTTCCAAAAAGCCCCTTACCAAAAAAATCCTTGTCCTCCCTGT GAAGCCCACATTGGCCATTCTGTATTACTTATTTATTTTATTTTTTTAAT TTTATTTATTTATTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTG GAGTGCAATGGCGTGATCTTGGCTCACCACAACCTTTGCCTCCCAGGTTC AAGAGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGTATTTTAGGTGCCT GCCACCACACCCAGTTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCA CCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGTCCA C	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02809.hp1 others(3): Show HG02109.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03540.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0275 a0006c0009t0001g0276 a0006c0009t0001g0277 others(3): Show a0006c0009t0001g0275 a0006c0009t0001g0276 a0006c0009t0001g0277 a0006c0009t0001g0279 a0006c0009t0001g0280 a0006c0009t0001g0287	6	292	0.0206	-550	c.614 others(15): Show c.614+201_614+750del	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	5/23			chr13	TogoVar
GSG1L_chr16_27782528_28068714	27805178	AGGAGGGC others(543): Show AGGAGGGCTGTGGGCACTGGGATTGGGGGTGGGGGGAGGGCTGTGGGCAC TGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGGTGGGGG GAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGG GATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGG GCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATT GGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGGTGGGGGGAGGGC TGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGG GGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTG GGCACTGGGATTGGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGT GGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGC ACTGGGATTGGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGTGGG G	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0153 a0001c0001t0016g0153	1	240	0.0042	-550	c.898 others(17): Show c.898+1759_898+2308del	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
LMF1_chr16_848634_975984	953177	ACACCCCA others(543): Show ACACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCTTCCTACACGTTCACACAGACACGGACCCCAAACCAG CCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGT TCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCACACAGACAC CCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCC TCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACAC AGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATGT CCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACAC C	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0191 a0001c0001t0013g0191	1	294	0.0034	-550	c.503 others(16): Show c.503+630_503+1179del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953340	TTCCTACA others(543): Show TTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTC CACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACG GACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCA GCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACATATCCA CACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAAC CAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTCCTACA CGTCCACACAGACACCCCAAACCAGCCTCCTACATGTCCACACAGACACC CACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCA GCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATG TCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACA CCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGC C	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	294	0.0034	-550	c.503 others(16): Show c.503+467_503+1016del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MAD1L1_chr7_1810795_2237945	2035548	CGGGACAG others(543): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTGGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGG CATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTC CCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCA GGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGG GTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAG CTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGA CAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGT T	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	264	0.0038	-550	c.121 others(21): Show c.1219-21456_1219-20907del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MED11_chr17_4726428_4738607	4737417	AAAAAATA others(543): Show AAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGCAATCCCAG CTACTCGGAAGGCTGTGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGG CTGCAGTGAGCTGAGGGCACCATTGCACTCCAGCCTGGGCGACAGAGCAA GACTCCATTAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCATCAAGAAAT AAGGTGATGGATGATGGATAGAAGAATGAATAGATGGATACTTAATAAAG CAAATATCGTGTAATTGCTGTAAAATTGATAGTGTAAAATATATGTTTAT GTAAATATGTAAAATATACATATATAAATAAAATTGTAGAATCTAGGTGG AGGCACTGGATATTCAGTGTGCCATTCTTTCAACTTTTGTATATGTGTAA ATTTTCATAATAAAATATTGGAAAAGAAAAATAGGCCAGGTGTGGTGGCT CACGCCTGTAATCCTAGCACTTTTGGAGGCCGAGGCGGGTGGATCACAAG GCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTAC T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02965.hp1 others(4): Show HG02451.hp2 HG02723.hp2 HG02965.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0017 a0001c0001t0003g0008 a0001c0001t0003g0017	7	432	0.0162	-550	c.42 others(11): Show c.4231_*4780del	MED11	ENSG00000161920.11	transcript	ENST00000293777.6	protein_coding		3811		chr17	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(543): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03139.hp2 HG01192.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0255 a0001c0006t0010g0268 a0001c0006t0010g0255 a0001c0006t0010g0268	2	302	0.0066	-550	c.-84 others(17): Show c.-84-1722_-84-1173del	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PKP3_chr11_389209_409908	401753	CCGCCCCG others(543): Show CCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCA CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCG CTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGG CTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCC CCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACT GACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCC CGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGC TCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCC CCGCTCACCCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCC GGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGAC CCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCC G	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0004 a0003c0019 a0006c0035 a0001c0004 a0003c0019 a0006c0035	a0001c0004t0001 a0003c0019t0001 a0006c0035t0001 a0001c0004t0001 a0003c0019t0001 a0006c0035t0001	a0001c0004t0001g0200 a0003c0019t0001g0186 a0006c0035t0001g0185 a0001c0004t0001g0200 a0003c0019t0001g0186 a0006c0035t0001g0185	3	216	0.0139	-550	c.173 others(18): Show c.1737+1049_1738-775del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
RAB40C_chr16_585066_634268	611595	CGGGACAG others(543): Show CGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTG GCCTGTAGAATCAAGAGCAGAGACAGCCGCCCTGGCCTGTAGAATCAAGA GCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCC TGGCCTGTAGATTCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAA GAGCAAGGGACAGCCGCCTTCGCCTGTAGAATCAAGAGCAGGGACAGCCG CCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAA TCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACA GCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCCTGGCCTGT AGAATCAAGAGCAAGGGACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGG GACAGCCGCCCTGGCCTGTAGCATCAAGAGCAAGGGACAGCCGCCCTGGC CTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGC A	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	350	0.0029	-550	c.143 others(17): Show c.143-5543_143-4994del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RNASE10_chr14_20500537_20518884	20506441	GGGGGGTC others(543): Show GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG TGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGC CAGCCGCCCAGTCCAGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGGGGAG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG T	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0099 a0001c0001t0014 a0001c0001t0099	a0001c0001t0014g0090 a0001c0001t0099g0089 a0001c0001t0014g0090 a0001c0001t0099g0089	2	396	0.0051	-550	c.-6+ others(13): Show c.-6+437_-6+986del	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3AL_chr17_207389_357807	235151	AGGGTTCA others(543): Show AGGGTTCAAAGCTGGGGTCAGCTGAGGCTCTGCAGTAACAAGAGGGATCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCACTAACAAGACGGGTCC AGGGTCCAAAGCTGGGGTCGGCCGAGGCTCTACACTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCACTAACAAGACGGATCC AGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACACTAACAAGACAGGTCC CGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCAGTAACAAGAGGGATGC AGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCACTAACAAGACGGATCC AGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGACGGGTCC CGGGTTCAAAGCTGGGGTCGGTGGAGGCTCCACACTAACAAGACGGATCC CGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCACACTAACAAGATGGATCC AGGGTTCAAAGCTGGGGTCAGCGGAGGCTCTACACTAACAAGACAGGTCC C	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	133	0.0075	-550	c.613 others(19): Show c.613+11410_613+11959del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SIGIRR_chr11_400716_419999	401753	CCGCCCCG others(543): Show CCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCA CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCG CTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGG CTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCC CCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACT GACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCC CGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGC TCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCC CCGCTCACCCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCC GGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGAC CCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCC G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 NA19240.hp2 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0235 a0001c0001t0002g0036 a0001c0001t0001g0235 a0001c0001t0002g0036	2	242	0.0083	-550	c.35 others(11): Show c.3593_*4142del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3962		chr11	TogoVar
ZMYND15_chr17_4734833_4751113	4737417	AAAAAATA others(543): Show AAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGCAATCCCAG CTACTCGGAAGGCTGTGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGG CTGCAGTGAGCTGAGGGCACCATTGCACTCCAGCCTGGGCGACAGAGCAA GACTCCATTAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCATCAAGAAAT AAGGTGATGGATGATGGATAGAAGAATGAATAGATGGATACTTAATAAAG CAAATATCGTGTAATTGCTGTAAAATTGATAGTGTAAAATATATGTTTAT GTAAATATGTAAAATATACATATATAAATAAAATTGTAGAATCTAGGTGG AGGCACTGGATATTCAGTGTGCCATTCTTTCAACTTTTGTATATGTGTAA ATTTTCATAATAAAATATTGGAAAAGAAAAATAGGCCAGGTGTGGTGGCT CACGCCTGTAATCCTAGCACTTTTGGAGGCCGAGGCGGGTGGATCACAAG GCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTAC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG02965.hp1 others(4): Show HG02451.hp2 HG02723.hp1 HG02965.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0011c0019 a0001c0001 a0001c0003 a0011c0019	a0001c0001t0001 a0001c0003t0001 a0011c0019t0001 a0001c0001t0001 a0001c0003t0001 a0011c0019t0001	a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0003t0001g0028 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0003t0001g0028 a0011c0019t0001g0011	7	458	0.0153	-550	c.-26 others(11): Show c.-2663_-2114del	ZMYND15	ENSG00000141497.14	transcript	ENST00000433935.6	protein_coding		2415		chr17	TogoVar
AGGF1_chr5_77025404_77070234	77042651	ATCCCGGA others(542): Show ATCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	438	0.0023	-549	c.870 others(17): Show c.870+3015_871-3065del	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
BCL11A_chr2_60452194_60558654	60467363	ATGGTGGT others(542): Show ATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGATGGT ACTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGG TGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATG GTACTGGTGGTGATGGTGATGGTGATGGTACTGGTGATGGTGGTGGTGGT AGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAG TGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATG GTACTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTACTGGTGGT GATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGG TGGTGGTGGAGATGGTGGTGTTGATGGTGATGGTACTGGTGGTGATGGTA CTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGCTACTGGTGGTGAT GGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02897.hp1 HG03098.hp2 others(2): Show HG02615.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0099 a0001c0001t0007g0112 a0001c0001t0007g0113 others(2): Show a0001c0001t0007g0099 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0139 a0001c0001t0010g0060	5	262	0.0191	-549	c.487 others(16): Show c.487+820_487+1368del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL2_chr18_63118346_63324769	63212067	CCTGTAAT others(542): Show CCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA GGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTT GCAGTGAGCCAAGAGCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCTGTCTCAAACAAACAAACAAACAACAACAACAAAAAAAACACAAA AAAACTCCATTTAGTAGCTTTGAAAATTCCAAGTTTCCTTTAAAGAAGGG AGGTAAGGAAGGAAATTATGATGCATTTAACAGCCACGTGAAGTAGACAG TCTCATTTTAGAGATCAGAAAACCAAGGGTAGAGAGTGAGTATCACAATA GGTGGCCACAAGCCACAGTGGGAACTCAGGGAGCTTAGGTCAGGATTCCA AGCTTTCTCAAATAAAAGTTGCTACCTTGGCCGGGTGCGGTGGCTCACAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG00642.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0044 a0001c0001t0002 a0001c0001t0044	a0001c0001t0002g0004 a0001c0001t0044g0109 a0001c0001t0002g0004 a0001c0001t0044g0109	2	264	0.0076	-549	c.586 others(19): Show c.586-83857_586-83309del	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
DCBLD2_chr3_98790941_98906695	98837059	CCATCTCC others(542): Show CCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCC CACCTCCCTCCCAGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCAGGGGGGCTGACACCCCCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	330	0.0030	-549	c.571 others(19): Show c.571+11853_572-11694del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DOCK8_chr9_209865_470255	380030	TGCAGGGG others(542): Show TGCAGGGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCA GGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGG CTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGC ACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCT GCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGT GGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCG CTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGA TGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTA GGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACC CCAGCACTCTAGGAGGCTGAGATGGCAGGATCACTTGGAGCAGTGGCTCA CATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02895.hp2 others(5): Show HG01243.hp1 HG02055.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0015 others(2): Show a0001 a0002 a0015 a0028 a0049	a0001c0066 a0002c0113 a0002c0115 others(4): Show a0001c0066 a0002c0113 a0002c0115 a0015c0018 a0015c0069 a0028c0116 a0049c0153	a0001c0066t0014 a0002c0113t0001 a0002c0115t0001 others(4): Show a0001c0066t0014 a0002c0113t0001 a0002c0115t0001 a0015c0018t0002 a0015c0069t0002 a0028c0116t0002 a0049c0153t0001	a0001c0066t0014g0084 a0002c0113t0001g0235 a0002c0115t0001g0037 others(5): Show a0001c0066t0014g0084 a0002c0113t0001g0235 a0002c0115t0001g0037 a0015c0018t0002g0007 a0015c0018t0002g0011 a0015c0069t0002g0008 a0028c0116t0002g0233 a0049c0153t0001g0171	8	256	0.0313	-549	c.260 others(17): Show c.2605+100_2605+648del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
RNASE10_chr14_20500537_20518884	20506407	TGCCCGGC others(542): Show TGCCCGGCCAGCCGTCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCAGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCAGTCCAG GAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCTGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03834.hp1 HG04115.hp2 HG02735.hp2 HG03834.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0039 a0001c0001t0004g0088 a0001c0001t0014g0039 a0001c0001t0004g0039 a0001c0001t0004g0088 a0001c0001t0014g0039	3	396	0.0076	-549	c.-6+ others(13): Show c.-6+402_-6+950del	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3AL_chr17_207389_357807	255256	GCGTCTGT others(542): Show GCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGAC TACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCC ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCAC GGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCAACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	133	0.0075	-549	c.439 others(17): Show c.439-8520_439-7972del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43280986	TCAGTCAC others(542): Show TCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCA GCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCAC CCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCT TCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCT GTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTC ACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACC TCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCAC CTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTC CTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCT TGGCCACCCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCCTCT TTGGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01070.hp2 others(41): Show HG00639.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01975.hp2 HG02109.hp1 HG02155.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02818.hp1 HG02896.hp1 HG03041.hp1 HG03130.hp1 HG03516.hp2 HG03579.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18943.hp1 NA18948.hp2 NA18962.hp1 NA18971.hp1 NA18995.hp2 NA18998.hp2 NA19030.hp1 NA19064.hp2 NA19065.hp1 NA19087.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0011 a0017 a0018	a0001c0003 a0001c0004 a0001c0006 others(14): Show a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0018 a0001c0019 a0001c0053 a0002c0002 a0002c0005 a0002c0009 a0003c0001 a0003c0007 a0004c0011 a0007c0023 a0011c0026 a0017c0061 a0018c0060	a0001c0003t0003 a0001c0003t0006 a0001c0004t0004 others(25): Show a0001c0003t0003 a0001c0003t0006 a0001c0004t0004 a0001c0006t0011 a0001c0006t0015 a0001c0006t0019 a0001c0006t0075 a0001c0010t0092 a0001c0018t0008 a0001c0019t0008 a0001c0053t0063 a0002c0002t0002 a0002c0002t0010 a0002c0002t0012 a0002c0005t0023 a0002c0005t0049 a0002c0009t0028 a0003c0001t0001 a0003c0001t0021 a0003c0007t0001 a0003c0007t0002 a0003c0007t0044 a0004c0011t0006 a0007c0023t0082 a0011c0026t0046 a0011c0026t0052 a0017c0061t0001 a0018c0060t0005	a0001c0003t0003g0231 a0001c0003t0003g0266 a0001c0003t0006g0133 others(41): Show a0001c0003t0003g0231 a0001c0003t0003g0266 a0001c0003t0006g0133 a0001c0004t0004g0124 a0001c0004t0004g0252 a0001c0006t0011g0223 a0001c0006t0015g0005 a0001c0006t0019g0067 a0001c0006t0019g0168 a0001c0006t0075g0024 a0001c0010t0092g0274 a0001c0018t0008g0242 a0001c0018t0008g0257 a0001c0019t0008g0051 a0001c0019t0008g0052 a0001c0019t0008g0264 a0001c0053t0063g0234 a0002c0002t0002g0111 a0002c0002t0010g0147 a0002c0002t0012g0045 a0002c0002t0012g0172 a0002c0005t0023g0156 a0002c0005t0049g0164 a0002c0009t0028g0004 a0003c0001t0001g0084 a0003c0001t0001g0093 a0003c0001t0001g0110 a0003c0001t0001g0112 a0003c0001t0001g0125 a0003c0001t0001g0135 a0003c0001t0001g0148 a0003c0001t0001g0195 a0003c0001t0021g0188 a0003c0007t0001g0226 a0003c0007t0002g0229 a0003c0007t0044g0210 a0004c0011t0006g0068 a0004c0011t0006g0169 a0004c0011t0006g0237 a0007c0023t0082g0073 a0011c0026t0046g0057 a0011c0026t0052g0074 a0017c0061t0001g0039 a0018c0060t0005g0038	44	280	0.1571	-549	c.484 others(18): Show c.484+9511_484+10059del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291926	CCCCCATG others(542): Show CCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTC TGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCG TGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACA CTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGT GTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCC CCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCAT GCACACTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 HG03239.hp1 others(2): Show HG02717.hp2 HG03041.hp1 HG03239.hp1 NA18939.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0002 a0001c0001t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0118 a0001c0001t0001g0202 a0001c0004t0001g0048 others(1): Show a0001c0001t0001g0118 a0001c0001t0001g0202 a0001c0004t0001g0048 a0002c0003t0002g0008	5	284	0.0176	-549	c.121 others(16): Show c.1214+24_1214+572del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ULK4_chr3_41241599_41967103	41295189	AATGGAGC others(542): Show AATGGAGCAAACATAGTTTTTTCAAGAAATAGTGTTGGAACAACTGGATA TCCACATGCAAAACATGAATGCAGACACAGATCTTTTACTCTCACAAAAA TCAACTCAAAATGGATCACAGACCTAAATGTAAAATGCAAGACTTACAGA CCTCAATGTGAAATGCAAAACTATAAAACTCCTAAAAGATAACATAGGAA AACAAATCTAGATGACCTCGGGTATGACAATGACTTTTTAGATACAACAC CAAAGACATGATCCATGAAAGAAATAACTGATAAGCTGGGTTTTGTTAAA ACTTAAAACTTCTGCCACAGACTGGGAGAAAATATTTGCAAAAGACACAT CTGATAGACTGTTATAAAAAATACACAAAGAATTCTTAAAACTGAACAGT AAGAAAACAGTTGATAAAAAAAAAAAGCCAAAGACCATAACAGACACCTC ACCAAAGAAGATATATAGATGGCAAATAAGCATATGAAAAGATGCTCCAC ATCGTTTGACATCAAGAAATGTAAATTAAAACAATGATATACCACTACAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG01071.hp2 others(16): Show HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp1 HG01515.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02735.hp1 HG02818.hp1 HG02970.hp2 HG02976.hp2 HG03540.hp2 HG04115.hp1 HG04184.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0016 a0021	a0001c0001 a0002c0003 a0003c0002 others(7): Show a0001c0001 a0002c0003 a0003c0002 a0004c0004 a0005c0006 a0006c0005 a0007c0007 a0009c0010 a0016c0021 a0021c0024	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0003c0002t0005 a0004c0004t0002 a0005c0006t0004 a0006c0005t0001 a0007c0007t0001 a0009c0010t0002 a0016c0021t0001 a0021c0024t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 others(16): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0003g0070 a0002c0003t0001g0060 a0003c0002t0005g0067 a0004c0004t0002g0014 a0005c0006t0004g0001 a0006c0005t0001g0063 a0006c0005t0001g0064 a0007c0007t0001g0023 a0009c0010t0002g0004 a0016c0021t0001g0045 a0021c0024t0001g0027	19	72	0.2639	-549	c.367 others(21): Show c.3679-46164_3679-45616del	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
UPF2_chr10_11915022_12047809	11983624	AGCCTCCC others(542): Show AGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTT GGATTCTTATTTTTAATATACTATGTATTAAATATGATTTGCTAGTGTTT TACTTGGAATTTTTTTATTGACACTCAAAAGTGAGATTGGTCAATGCTTG TGATTTTCTTGTTCCTTCTTCTTAGAATTTTTAATATATGAAATAACACG TTTTCTATGCTCTGGAACAAGCGATATTATTTCTTCCTTAAAAGGCTAAA AATACTCAGTTAAGCTTCCTAGTTTTATTCTATTTAAGATGAAATTAATT GATAACTTTTTTTTTTTGAGACGGAGTTTCGTTCTCGTTGCCCAGGCTGG AGTGCAATGGCGCGATCTCGGCTCACCACAACCTCCACCTCCCGGGTTCA AGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTATGCA CCACCACACCCAGCTAAGTGTGTATTTTTAGTAGAGACGGGGTTTCTCCA TGTTGGTCAGGGTGGTCTGGAATCCTGACTTCAGGTGACCCGCCGCCTTT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0297	1	334	0.0030	-549	c.184 others(19): Show c.1845-5008_1845-4460del	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21			chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393495	GGGCAGGT others(542): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG GGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02615.hp2 others(2): Show HG02055.hp2 HG02280.hp2 HG02615.hp2 HG03453.hp1 HG03471.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0002 a0017c0049 a0001c0001 a0001c0002 a0017c0049	a0001c0001t0073 a0001c0001t0124 a0001c0002t0090 others(2): Show a0001c0001t0073 a0001c0001t0124 a0001c0002t0090 a0001c0002t0119 a0017c0049t0114	a0001c0001t0073g0020 a0001c0001t0124g0075 a0001c0002t0090g0119 others(2): Show a0001c0001t0073g0020 a0001c0001t0124g0075 a0001c0002t0090g0119 a0001c0002t0119g0018 a0017c0049t0114g0072	5	346	0.0145	-549	c.181 others(21): Show c.1811-13741_1811-13193del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADGRV1_chr5_90553797_91169437	90595113	GCTGACCC others(541): Show GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCTTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	158	0.0063	-548	c.23- others(17): Show c.23-19682_23-19135del	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	1/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ASB16_chr17_44165704_44184084	44180613	CCCCCCCG others(541): Show CCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCC GTCCGCGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGGAGGTGTGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	362	0.0028	-548	c.22 others(11): Show c.2224_*2771del	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding		1530		chr17	TogoVar
EPHA3_chr3_89102621_89487134	89422470	TCTGAAAC others(541): Show TCTGAAACAACCTTACTCCTCTGAGAACTCCTACAAATCAGACAATTCAC ACATAATTCATTTCTTCGCTTGTAACAAAATTAAACAGTACTACTTTACT ATTTTTAGATACTAAAGATCAAATGAGATTACATAAGAATATATTAAGTG GCAAAGAACTGTGCAAATCTAAATTACTCCTCTGGTTGTTTGAGATTTTA CCAATCAATTTGGGTGTATAGAAAAAAATTCTTGAAAATAATTCTTTTTT TGCTCAAAGATAAATCTGTTTATTATTGTTATTCGATTGTGTGCTTTGAA ACACTAGGTCAAATACAATGTATCATTTTCAAATCATTTGAAGAAAACTT TTCTTAAAGCTTTTTATTCAGTCATTGTATTTTCATTTAGCCACAAACAA TTTTAATGTTTTTGAGCCTGATGGTCTTAAACAGGAGAAGGTGAGAGAGT CTCTGATCTTCAAAGTAGCAGAAAGCGGGGGGCACAGGCTCTGCTCACAA CAAGGTACTAACATGTGTTATCAATTTTAGCTGAAGTTCAAAAGGATAG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0057 a0001c0001t0019g0057	1	200	0.0050	-548	c.207 others(19): Show c.2074+3081_2074+3628del	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	11/16			chr3	TogoVar
ERICH1_chr8_659200_736224	675211	GTGAGGAC others(541): Show GTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACA GAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	378	0.0027	-548	c.305 others(17): Show c.305-1712_305-1165del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
GRIK2_chr6_101388708_102075083	101970677	GCCCCATC others(541): Show GCCCCATCCCAATATTTACAGATGTGAACATCTGTAAACATTCTTTCTGC AAATACATCCTGCAATTGTATTTAGTTGGTCCTCAATTTCATCTAATGTC TGAGTCCTGTCTCTGCAGTTAAGTCCTGCCTCCTGAGTCAAGTCCCACCT CCTACCTCAATTTGAGTTTAAGTTGAAAAAACAAATTTTGCAGAAGTGAA GGCAAAAAATGAAGGCATATCCAAATGATACAAATGACAATCATTGTCAA TTAATCTTCTGTTTTTATAAGGGCAAATATGATTCCAGAAGCTCAGCATT ATTTTGGCATAATGGGAACTGTAGGAAAGGCAGATGATTTCCATAGTATT TATCACTGCATTCCTTGCTGTGTATTTCAAATTCTCTTGGAGTTTGTACT TCTAAATTTTAGAAAAAGTTGTGAATTTTGAAATTTTTTCAGAAATTGGA AAATATTTGTAGATCAAATTAAACAGAAAGCCAATGAGATATATTCACAT CTGTAAACATTCTTTTTTATTTCAAATATATTTTGTTAGCTAAAAAGTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0014 a0001c0006t0002g0078 a0001c0001t0002g0014 a0001c0006t0002g0078	2	116	0.0172	-548	c.208 others(21): Show c.2085+42047_2085+42594del	GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
LARS2_chr3_45383576_45554407	45400768	TTCTTTCT others(541): Show TTCTTTCTGTTCTATTTGATATTTTCCATATTCTTTGAGCATGTATTTCT TTTCTTTTTTTTTTGAGGCGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTG CAGTGACGCAGTCTCGGCTCACTGCAACCTCCCCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCAC CACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGTTTCACTGTGTT AGCCAGGATGGTCTTGATTTCCTGGCCTCGTGATCCGCCCACCTTGGCCT CCCAAAGTGCTGTGATTACAGGTGTGAGCCACCATGCCCGGCAGAGCATG TATTTATTTTCTAATGGAAAAAAATAATTTTTTTAAGAAAAGATATTTGG GGAGTAACAACTCTGGGGAGTTGGGGAAAGTGCCACTAAAGAAGGAACAT CTGGTCTGGGCACCTGGCTCATGCCTGTAATTCCAGTGCTTTGGGAGGCC CAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGACCAGCCTGAGCAA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0135 a0007c0023t0001g0135	1	242	0.0041	-548	c.363 others(15): Show c.363+397_363+944del	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLA2G2C_chr1_20158055_20191518	20170696	AGGAGGCG others(541): Show AGGAGGCGGGTGCTGATGCCCTGGTACTGATGCGGAAGCCTCCTCCCACG CTAGTGCCCTGAGCAAGGCTCTGGACTCAGGAGCCCTGGTCAAGGCTTCA GGAGCAACTGGCTGCTTCTGCTCTGAAGGGGCAACGTGGGAAGAAAGTAC AGCCCAGGCCACGTACTTTCGGGTCCAACTCCCAGCCCTGGCTGGCACCT CCCACCACTGCCCAGCAGTGCCACTGCCTGGGGCTCCAGCCTCTGCTCCT CAACCTTTGCTCCACTCTCCCTCATCTCCTGGGGTCCTGGGCTGGGAGGG TGAAGAGCATTGAATAGAGAAGCTTCCCTGGGTGCAGAGAGCCTAGGCCA GCCCTGGCGAGTGCAGCCAGCCCACAGGAGCCCAGGGTGGAGGCTTGGGC TGGGCCAGCCAGGTGTCCCCACCCCTGTGGCAAAGACAGGTGGGAAGAGG CCATGGGAAACTCGATCCCTGGAGGCCACCTTCTCCAGTCCCCTCTCCCC ATCCCTCCCACCAGGCCCTGATCCCTTCCCCTCTCCTGAACATGGCCTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00621.hp2 others(82): Show HG00323.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01891.hp2 HG01981.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp1 NA18944.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18964.hp2 NA18970.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA19001.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0007 a0001c0001 a0003c0003 a0003c0007	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(1): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0003c0007t0001	a0001c0001t0001g0127 a0003c0003t0001g0002 a0003c0003t0001g0015 others(60): Show a0001c0001t0001g0127 a0003c0003t0001g0002 a0003c0003t0001g0015 a0003c0003t0001g0023 a0003c0003t0001g0026 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0032 a0003c0003t0001g0036 a0003c0003t0001g0050 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0086 a0003c0003t0001g0088 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0098 a0003c0003t0001g0103 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0114 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0129 a0003c0003t0001g0132 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0144 a0003c0003t0001g0169 a0003c0003t0001g0178 a0003c0003t0001g0204 a0003c0003t0001g0208 a0003c0003t0001g0210 a0003c0003t0001g0213 a0003c0003t0001g0223 a0003c0003t0001g0229 a0003c0003t0001g0249 a0003c0003t0001g0257 a0003c0003t0001g0269 a0003c0003t0002g0008 a0003c0003t0002g0063 a0003c0003t0002g0102 a0003c0003t0002g0138 a0003c0003t0002g0143 a0003c0003t0002g0275 a0003c0007t0001g0092	85	406	0.2094	-548	c.283 others(17): Show c.283+1550_283+2097del	PLA2G2C	ENSG00000187980.7	transcript	ENST00000679259.1	protein_coding	4/4			chr1	TogoVar
PTPRH_chr19_55176247_55214501	55207567	TGGAGGGC others(541): Show TGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAGGGGCTGGG GGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTG AGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCT GGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTC TGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGG TTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGAC TCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAG GGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCC TGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00621.hp2 others(91): Show HG00280.hp1 HG00438.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18983.hp2 NA18990.hp1 NA18994.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0021 a0024 a0027 a0028 a0029 a0033 a0035 a0042	a0001c0004 a0001c0014 a0002c0005 others(43): Show a0001c0004 a0001c0014 a0002c0005 a0002c0013 a0002c0035 a0002c0036 a0002c0081 a0002c0101 a0003c0007 a0003c0071 a0003c0072 a0003c0123 a0004c0016 a0004c0022 a0004c0066 a0004c0078 a0005c0006 a0005c0070 a0005c0082 a0007c0011 a0007c0073 a0008c0015 a0008c0027 a0009c0112 a0010c0037 a0010c0063 a0011c0020 a0011c0061 a0012c0067 a0012c0068 a0013c0034 a0014c0075 a0015c0021 a0016c0019 a0016c0054 a0018c0030 a0019c0029 a0019c0053 a0021c0056 a0024c0122 a0027c0057 a0028c0058 a0029c0074 a0033c0076 a0035c0077 a0042c0052	a0001c0004t0001 a0001c0014t0001 a0002c0005t0002 others(44): Show a0001c0004t0001 a0001c0014t0001 a0002c0005t0002 a0002c0013t0001 a0002c0035t0001 a0002c0036t0001 a0002c0081t0001 a0002c0101t0001 a0003c0007t0003 a0003c0071t0004 a0003c0072t0003 a0003c0123t0001 a0004c0016t0001 a0004c0022t0002 a0004c0066t0003 a0004c0078t0001 a0005c0006t0001 a0005c0070t0001 a0005c0082t0001 a0007c0011t0001 a0007c0073t0001 a0008c0015t0001 a0008c0027t0001 a0009c0112t0003 a0010c0037t0003 a0010c0037t0005 a0010c0063t0002 a0011c0020t0003 a0011c0061t0003 a0012c0067t0001 a0012c0068t0001 a0013c0034t0001 a0014c0075t0001 a0015c0021t0003 a0016c0019t0003 a0016c0054t0003 a0018c0030t0001 a0019c0029t0003 a0019c0053t0004 a0021c0056t0001 a0024c0122t0001 a0027c0057t0003 a0028c0058t0001 a0029c0074t0003 a0033c0076t0003 a0035c0077t0001 a0042c0052t0001	a0001c0004t0001g0003 a0001c0004t0001g0064 a0001c0004t0001g0067 others(75): Show a0001c0004t0001g0003 a0001c0004t0001g0064 a0001c0004t0001g0067 a0001c0004t0001g0085 a0001c0004t0001g0090 a0001c0004t0001g0093 a0001c0004t0001g0099 a0001c0004t0001g0104 a0001c0004t0001g0122 a0001c0014t0001g0092 a0002c0005t0002g0073 a0002c0005t0002g0074 a0002c0005t0002g0075 a0002c0005t0002g0076 a0002c0005t0002g0077 a0002c0005t0002g0078 a0002c0005t0002g0105 a0002c0013t0001g0017 a0002c0035t0001g0086 a0002c0035t0001g0094 a0002c0036t0001g0095 a0002c0081t0001g0063 a0002c0101t0001g0055 a0003c0007t0003g0008 a0003c0007t0003g0016 a0003c0007t0003g0065 a0003c0007t0003g0083 a0003c0007t0003g0107 a0003c0007t0003g0108 a0003c0071t0004g0110 a0003c0072t0003g0084 a0003c0123t0001g0116 a0004c0016t0001g0096 a0004c0022t0002g0007 a0004c0066t0003g0080 a0004c0078t0001g0097 a0005c0006t0001g0053 a0005c0006t0001g0054 a0005c0006t0001g0066 a0005c0006t0001g0071 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0102 a0005c0070t0001g0101 a0005c0082t0001g0113 a0007c0011t0001g0087 a0007c0011t0001g0088 a0007c0073t0001g0072 a0008c0015t0001g0037 a0008c0027t0001g0015 a0009c0112t0003g0103 a0010c0037t0003g0032 a0010c0037t0005g0033 a0010c0063t0002g0069 a0011c0020t0003g0070 a0011c0020t0003g0123 a0011c0061t0003g0114 a0012c0067t0001g0079 a0012c0068t0001g0098 a0013c0034t0001g0089 a0014c0075t0001g0100 a0015c0021t0003g0006 a0016c0019t0003g0057 a0016c0019t0003g0058 a0016c0019t0003g0320 a0016c0054t0003g0059 a0018c0030t0001g0014 a0019c0029t0003g0061 a0019c0029t0003g0062 a0019c0053t0004g0056 a0021c0056t0001g0068 a0024c0122t0001g0115 a0027c0057t0003g0106 a0028c0058t0001g0109 a0029c0074t0003g0111 a0033c0076t0003g0091 a0035c0077t0001g0112 a0042c0052t0001g0060	94	378	0.2487	-548	c.52- others(13): Show c.52-916_52-369del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RBMY1A1_chrY_21529879_21554326	21546184	ATGAAATA others(541): Show ATGAAATATGATATCTCATTTTGGATTTGAAATGCATTTTCTGCACCCAT TAACTCATCATGCACATGGACCCTAGAACTTAAAGTATAATTAAAAAAAA AAGAAATGCGTCTTCTGAATCACTGAATATGAGTATGTGTCCCATGTGCA TCTTGGGCATTTGCCCATTTTATTTGGAGAAATATCCATTGAGATGTTTG GCCTTTTAATTTTGTTTAAGTTGTAAGTTAGTCATGTATCGGATACTAGA AGTTGAAAATTTAAAATTTGTTGCTTAAACTTATGCATACAGAAATCATC GAAGTTCCCGAGAAACTAGGGATTATGCTCCACCATCTAGAGGCCATGCA TACCGTGATTATGGTCATTCTCGTCGGGATGAAAGTTATTCTAGAGGATA CAGGTACTGTAACTTTTTGTGGATTTGTCAAATAGATTTCTTAAATTGTT CATTCCAACTAACATTGTATCAGGGCTCCAATTTATCTGCATCCTCTCCA ACACTTGTTATTTCCTGCTTTTGAAAATTTATTGCCATTCATCTGTGTG	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19043.hp1 NA19043.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0049 a0015c0019t0001g0049	1	64	0.0156	-548	c.770 others(15): Show c.770+206_881+201del	RBMY1A1	ENSG00000234414.8	transcript	ENST00000382707.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chrY	TogoVar
TCF3_chr19_1604292_1657615	1628323	GGGGATGA others(541): Show GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGG GCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAG CAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG GGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0098 a0001c0009t0098	a0001c0009t0098g0347 a0001c0009t0098g0347	1	352	0.0028	-548	c.299 others(16): Show c.299-1445_299-898del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273242	GACCGCCA others(541): Show GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCTGTGACCGATCGCCATCCACAGTCACCACACATCAGACCC CCGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCGGG ACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0192 a0001c0003t0001g0193	2	392	0.0051	-548	c.228 others(18): Show c.2287-1510_2287-963del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TUBGCP2_chr10_133273635_133313872	133291383	GTGTCCCG others(541): Show GTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCG TGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCC CGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCC CCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGA GCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGT CCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTA CCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCC GTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCC CCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0086 a0002c0003t0002g0086	1	284	0.0035	-548	c.121 others(18): Show c.1214+568_1214+1115del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TYW1_chr7_66991833_67244514	67179860	TATATATT others(541): Show TATATATTTTTTTTTTTTGGCGGGGGACAGGGTCTTGCTGTGTCACCCAG GCTGGAGTGCGTTGGTGTGATCATGGCTCACGGCAGCCTCCACCTCCCAA GCTCAAGCAATCCTCCTGCTTCAGCCATGCCCAGCTGTTGTATTTTTTGT AGTGATGGGGTCTCTTTATGTTGCCCAGGCTGGTCTCGAATTCCTGGCCT CAAGTAATCCTCCCATCTTGGTCTTCCAATGTGCTGAGATTACAGGCGTG AGCCAGTGCACCCAGCTGAAACACTAGGCATTTCATAATTATAAGTAGAA TATGCTTTCTCTTGAATTTTGAAATTGCTGATTGCTGGCATATAATAGCT AATATTTGGTATGATACGCTGCTGCCAAGCTTGGTTCCAGATTCCACATG CTAAATGCTACATTCAGGTAGAAACTAAGAACAGAGAGGTAATGATACCT AGTACATGGGTTGGGATTCATTCTGGCCCCCGTGTCCACATTTAACTCAC TACCGTATCCTTGGAAAGCTGTTGGTTTATATATATATATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02451.hp1 others(8): Show HG01884.hp1 HG01884.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp2 HG02922.hp1 HG03098.hp2 NA19030.hp2 NA19043.hp2	a0004 a0005 a0011 a0004 a0005 a0011	a0004c0006 a0004c0011 a0005c0010 others(2): Show a0004c0006 a0004c0011 a0005c0010 a0005c0017 a0011c0020	a0004c0006t0005 a0004c0011t0005 a0005c0010t0005 others(2): Show a0004c0006t0005 a0004c0011t0005 a0005c0010t0005 a0005c0017t0005 a0011c0020t0008	a0004c0006t0005g0008 a0004c0006t0005g0107 a0004c0006t0005g0108 others(8): Show a0004c0006t0005g0008 a0004c0006t0005g0107 a0004c0006t0005g0108 a0004c0006t0005g0222 a0004c0006t0005g0236 a0004c0006t0005g0250 a0004c0006t0005g0364 a0004c0011t0005g0354 a0005c0010t0005g0359 a0005c0017t0005g0122 a0011c0020t0008g0213	11	364	0.0302	-548	c.169 others(19): Show c.1699-3265_1699-2718del	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15			chr7	TogoVar
ABCG1_chr21_42214140_42302244	42283665	AATGAGTG others(540): Show AATGAGTGGGGAACCCCCACCTCTTTCCCACCTGGACAGTTGTGAAGTAC CACCCACCACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGAC AGTTGTGAAGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTG TCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCC CCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAG TGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCC GCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCG AAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGAC CCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp2 HG03209.hp1 others(1): Show HG02280.hp2 HG02922.hp2 HG03209.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0076 a0001c0001t0001g0142 a0001c0001t0001g0316 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0142 a0001c0001t0001g0316 a0001c0001t0004g0265	4	354	0.0113	-547	c.735 others(15): Show c.735-883_735-337del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADGRA1_chr10_133082924_133136675	133111171	CGCCGTGA others(540): Show CGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC GGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp2 others(16): Show HG00140.hp2 HG00408.hp2 HG00558.hp2 HG01109.hp2 HG01515.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02293.hp2 HG03195.hp2 HG03490.hp1 NA18954.hp1 NA18964.hp2 NA18993.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19057.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0026 a0001c0001 a0001c0002 a0010c0026	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 a0010c0026t0023	a0001c0001t0002g0128 a0001c0001t0002g0200 a0001c0001t0003g0308 others(16): Show a0001c0001t0002g0128 a0001c0001t0002g0200 a0001c0001t0003g0308 a0001c0001t0017g0155 a0001c0002t0001g0070 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0100 a0001c0002t0001g0126 a0001c0002t0001g0145 a0001c0002t0001g0152 a0001c0002t0001g0174 a0001c0002t0001g0190 a0001c0002t0001g0195 a0001c0002t0001g0250 a0001c0002t0006g0350 a0001c0002t0014g0081 a0010c0026t0023g0109	19	368	0.0516	-547	c.401 others(17): Show c.401+8330_401+8876del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
DCBLD2_chr3_98790941_98906695	98836897	GGGGGCGG others(540): Show GGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCGGGCAGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCACCTCCCGGAC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01884.hp1 others(14): Show HG00735.hp1 HG01106.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0009 a0001c0014 others(1): Show a0001c0003 a0001c0009 a0001c0014 a0004c0008	a0001c0003t0008 a0001c0003t0013 a0001c0009t0003 others(2): Show a0001c0003t0008 a0001c0003t0013 a0001c0009t0003 a0001c0014t0003 a0004c0008t0003	a0001c0003t0008g0147 a0001c0003t0008g0148 a0001c0003t0008g0149 others(14): Show a0001c0003t0008g0147 a0001c0003t0008g0148 a0001c0003t0008g0149 a0001c0003t0008g0150 a0001c0003t0008g0151 a0001c0003t0008g0152 a0001c0003t0013g0139 a0001c0003t0013g0144 a0001c0003t0013g0145 a0001c0003t0013g0146 a0001c0009t0003g0282 a0001c0009t0003g0283 a0001c0009t0003g0284 a0001c0014t0003g0195 a0004c0008t0003g0316 a0004c0008t0003g0317 a0004c0008t0003g0319	17	330	0.0515	-547	c.571 others(19): Show c.571+12017_572-11532del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DNAJC1_chr10_21751548_22008730	21792720	CTGCTCTC others(540): Show CTGCTCTCCAGCCTGGGTGACAGAGTGAGACAACACCTCAAAAAAAAAAA AAAAAAAATTAGCTAACCAAATCCAGCACCATATAAAATGTATATACAAC ATGATCAAGTGGGAATGTAAGGTTGGTTTAACATCCAAAGATCAATTTAT ATACTATGCCATATTAATAAAACACAGGATAAAAATCATGTGATCATCTC AATAGATGAAGCAAAATCATGTGACAAAATCCAATGTCTATTCATGATAA AAATGCTCAAGCTAGAAATAGAAGGGAAGTTCCTTAGATAAAAAGCTTCT ATGAGCCTGGGCACGGTGGCTCATGCCTATAATCCCAGCATTTTGGGAGG CCAAGGAGGGCAGATCATCCGAGGTCAGGAGTTCAAGACCAGTCTGGCCA ACGTGGTGAAACCCTGTATCTACTAAAAATAGAAAAATTAGCTGGGCGTG GTGGTGAATGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAAT CACTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCTGAGATTGTGCCAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	164	0.0061	-547	c.109 others(21): Show c.1098+12713_1098+13259del	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	9/11			chr10	TogoVar
FOXQ1_chr6_1307098_1319758	1319211	CGCCTGTA others(540): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAG TTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTAC TAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGC ACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGAC TAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTA GCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAA GGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACAT GGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGC GCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCT GAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCAC TACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	1	406	0.0025	-547	c.52 others(11): Show c.5296_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4454		chr6	TogoVar
GPR158_chr10_25170001_25607229	25349357	TTAACTTA others(540): Show TTAACTTAAACACATTTGCAAAGTTTCTTTTCCCATATGATATGGTTCGG CTCTGTGTCCCCACCAAAATCTCATTTTGAGTTCCCAGTGTTGGAGGAAG GACCTGGTGGGAGGTGGTTGGATCATGAGGCAGATTTCCCCCTTGCTGTT CTCATAATAGTGAGTGAGTTCTCACAAGATCTGATTGTTTAAAAGTGTGT AGTACTTCCTTTAGCTCTCTCTTTCCTGCTCCATCATGGCAAGACATGTT TGCTTCCCCTTCACCTTCTTCCATGATTGTAAGTTTCCTGAGGCCTCCCA ACCATGCTTTCTGTACAGCCTGTGGAACTACGAGTCAGTTAAACCTCCTT TCTTCATATATTACGCAATTTCAGGTAGTTCTTAAGAGCAGTATGACAAT GGATTAATTCACCATGTAAGGGAACATATTCACAAGTTTCAGGGGTTAGG ATGCAGATGTCTTTGGATAGGGGCATGATTCAGCCTACAGAAGGTAGAGC TACCACAGCATCCCATGAAATCACACTGGTGATCTTTTCTGGTGAGAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02145.hp2 others(23): Show HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02148.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0013	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0006c0006 a0013c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0002c0002t0001 a0002c0002t0003 a0002c0002t0010 a0002c0002t0012 a0005c0005t0001 a0005c0005t0018 a0006c0006t0002 a0013c0015t0002	a0001c0001t0001g0046 a0001c0001t0001g0066 a0001c0001t0001g0094 others(23): Show a0001c0001t0001g0046 a0001c0001t0001g0066 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0118 a0001c0001t0005g0149 a0001c0001t0006g0095 a0001c0001t0010g0160 a0002c0002t0001g0024 a0002c0002t0001g0048 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0003g0015 a0002c0002t0003g0022 a0002c0002t0010g0159 a0002c0002t0010g0162 a0002c0002t0012g0017 a0005c0005t0001g0073 a0005c0005t0018g0072 a0006c0006t0002g0076 a0013c0015t0002g0116	26	162	0.1605	-547	c.100 others(21): Show c.1009-46550_1009-46004del	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)