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
CDKAL1_chr6_20529457_21237404	21205830	C C	CTTTTTTT others(302): Show CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGAGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACTGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATC TGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCGC GCCCAGCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0019 a0001c0009t0004g0019	1	196	0.0051	309	c.154 others(328): Show c.1548+4578_1548+4579insTTTGAGACAGAGTCTTGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGAGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACTGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGAT CTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCG CGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(302): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTT CCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCT TACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTC CTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0008 a0006c0009t0001g0008	1	354	0.0028	309	c.69 others(320): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132888375	T T	TCACCCCT others(302): Show TCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCTGCCTTCACCCCTGCCGCC TGCACCCCTGCCGCCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCAC CCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCGCCGCCTTCACCCCTGC CGCCTGCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCT GCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCCCGCCGCCTTCACCC CTGCCGCCTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0014 a0012c0025t0002g0014	1	246	0.0041	309	c.330 others(328): Show c.3305-2417_3305-2416insCAGGCGGCAGGGGTGAAGGCGGCGGG GTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGCA GGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGCGG CGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGG TGAAGGCGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAG GCAGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAG GTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHRM3_chr1_239381568_239920450	239729732	T T	TAAAAATG others(302): Show TAAAAATGCGTGATGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC TGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0026 a0001c0001t0035g0026	1	116	0.0086	309	c.-14 others(330): Show c.-147+51460_-147+51461insCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCTGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAATGCGTGATGTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLPTM1L_chr5_1312752_1350099	1333123	C C	CGGATAAG others(302): Show CGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGAC TACTGTACACACACCGGATGAGGATAAGGGGGGACTACTGTACACACACC GGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGG GGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATAC ACACGGGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATAAGGGG GGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACA CACCGGATGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03688.hp2 HG02738.hp1 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0251 a0002c0003t0004g0253 a0002c0003t0004g0251 a0002c0003t0004g0253	2	370	0.0054	309	c.891 others(326): Show c.891+1165_891+1166insTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCGGTGTGTC TACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCC TTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGT GTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTGTACAGTAGTC CCCCCTTATCCTCATCCGGTGTGTGTACAGTAGTCCCCCCTTATCCTCAT CCGGTGTGTATACAGTAGTCCCCCCTTATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(302): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCC CCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0144 a0003c0010t0001g0144	1	223	0.0045	309	c.-42 others(320): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(302): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02895.hp2 others(3): Show HG02723.hp2 HG02886.hp1 HG02895.hp2 HG03225.hp2 HG06807.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0007 a0002c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003	a0001c0001t0001g0086 a0001c0001t0001g0149 a0001c0001t0007g0152 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0149 a0001c0001t0007g0152 a0002c0005t0001g0168 a0002c0005t0002g0166 a0002c0005t0003g0266	6	324	0.0185	309	c.365 others(328): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL20A1_chr20_63288186_63339806	63294164	G G	GGGGATGC others(302): Show GGGGATGCGGTGGGGGGGAGGGGGGGAGTGCGGGGGGGAGGGGGGAGGGG TGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGAGGGAGGGGG AGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGGAGGGGGAGTGCGGGGG GAGGGGAGTGCGGGGGTAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGG GAGGGGGAGTGTGGGGGGGGAGGGAGGAGCGGGCGGGGAGGGGAGAGTGG AGGCCTGGGGAGCGGAGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCT GCCGAGGAGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0134 a0001c0001t0017g0134	1	290	0.0035	309	c.-11 others(324): Show c.-11+893_-11+894insTGCGGTGGGGGGGAGGGGGGGAGTGCGGGG GGGAGGGGGGAGGGGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTG CGGGGAGGGAGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGGA GGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGTAGGGGGAGTGCGGGGGAA GGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGAGGAGCGGGCG GGGAGGGGAGAGTGGAGGCCTGGGGAGCGGAGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGA	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL5A2_chr2_189026898_189184761	189094695	C C	CAAGAAAC others(302): Show CAAGAAACATACCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	248	0.0040	309	c.457 others(326): Show c.457-2276_457-2275insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGGTATGTTTCTT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(302): Show TCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCACC CATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTC CATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCA TCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATC CGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCA CCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0310 a0001c0005t0002g0310	1	348	0.0029	309	c.13 others(320): Show c.1315_*1316insCTGTCCACCCATCTGTCCACCCATCCATCCACCC ATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCC ACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCAT CCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCC ATCCCCCCACCCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCAC TCACCCATCTGTCCACCCATTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CP_chr3_149167497_149226829	149191550	T T	TAAGATCA others(302): Show TAAGATCAGACACATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18906.hp1 HG01243.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0288 a0002c0002t0003g0290 a0002c0002t0003g0288 a0002c0002t0003g0290	2	376	0.0053	309	c.171 others(328): Show c.1714-3349_1714-3348insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGATGTGTCTGATCTT	CP	ENSG00000047457.14	transcript	ENST00000264613.11	protein_coding	9/18			chr3	TogoVar
CTNNBL1_chr20_37689030_37877118	37717097	C C	CATCTTTT others(302): Show CATCTTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGC CACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	266	0.0038	309	c.31- others(326): Show c.31-15774_31-15773insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAATCTTTTC	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(302): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATATAT TATATATTATATGTATATTATGTATACATAATATATTATATATTATATGT ATATTATGTATACATAATATATTATATATTATATGTATATTATGTATACA TAATATTTATATATTATATGTATATTATGTATACATAATATTTATATATT ATATGTATAT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0251 a0001c0001t0013g0251	1	344	0.0029	309	c.896 others(326): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAATATATTATGTATACATA ATATACATATAATATATAATATATTATGTATACATAATATACATATAATA TATAATATATTATGTATACATAATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(302): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATATAT TATATATTATATGTATATTATGTATACATAATATATTATATATTATATGT ATATTATGTATACATAATATTTATATATTATATGTATATTATGTATACAT AATATATTATATATTATATGTATATTATGTATACATAATATTTATATATT ATATGTATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19084.hp2 NA18947.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0265 a0001c0001t0003g0268	2	344	0.0058	309	c.896 others(326): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAAATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAATATATTATGTATACATA ATATACATATAATATATAATATATTATGTATACATAATATACATATAATA TATAATATATTATGTATACATAATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CXCL6_chr4_73831678_73843760	73842184	T T	TAATTATA others(302): Show TAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTTTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	444	0.0023	309	c.45 others(320): Show c.4543_*4544insAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTG	CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding		3425		chr4	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(302): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03239.hp2 HG03688.hp1 others(2): Show HG03017.hp1 HG03239.hp2 HG03688.hp1 NA18967.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0087 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089	5	292	0.0171	309	c.165 others(324): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGAGGGGGGA GGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGG GAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGG GGAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DAPP1_chr4_99811827_99875190	99819700	T T	TTCAATTA others(302): Show TTCAATTATTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02109.hp1 HG02602.hp2 others(10): Show HG00738.hp1 HG02109.hp1 HG02602.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp1 NA18967.hp1 NA18978.hp1 NA19056.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0011 a0001c0001t0001g0248 a0001c0001t0001g0249 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0024g0253	13	366	0.0355	309	c.101 others(326): Show c.101+2698_101+2699insTTTTTTTTTTTTTTTGGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCAATTATTTTT	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(302): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02723.hp2 HG01255.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0001g0191 a0001c0001t0001g0204	2	416	0.0048	309	c.500 others(326): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(302): Show TAGAAAGATCTGGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18959.hp1 NA18946.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0239 a0001c0001t0001g0245	2	416	0.0048	309	c.500 others(326): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCACCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(302): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	367	0.0027	309	c.-42 others(320): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(302): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	367	0.0027	309	c.-42 others(320): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(302): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	367	0.0027	309	c.-42 others(320): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGG GGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(302): Show CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGT GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	367	0.0027	309	c.-42 others(320): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DECR2_chr16_396885_417482	397739	T T	TGGGGGTG others(302): Show TGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	367	0.0027	309	c.-42 others(320): Show c.-4225_-4224insGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGG GTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4145		chr16	TogoVar
DIP2C_chr10_269201_694668	516502	G G	GGAGGGGG others(302): Show GGAGGGGGGAAGGGGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGACAG GGGAAGGGGGTAAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACGGG GTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGGGACAGGGGTAGG GTGGGGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACAGGGGTAGGGTG GGAGGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTG GGGGGGGACAGGGGGTAGGGTGGGGGGGGGACGGGGTAGGGTGGGGGGGG GGACGGGGTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	88	0.0114	309	c.86- others(326): Show c.86-29973_86-29972insTACCCCGTCCCCCCCCCCACCCTACCCC GTCCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCC CCCCTCCCACCCTACCCCTGTCCCCCCCCTCCCACCCTACCCCTGTCCCC CCCTCCCACCCTACCCCTGTCCCCCCCCCCACCCTACCCCTGTCCCCCCC CCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTCCCCCCCTCCCAC CCTACCCCCTGTCCCCCCCTTACCCCCTTCCCCTGTCCCACTGTCCACCT TACCCCCTTCCCCTTCGCCCCTTCCCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1015326	C C	CGACGCCT others(302): Show CGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGT GTGTGACCAGGACAGACGCCTCCACTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCAC TGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGA CAGACGCCTCCACTGTGTGAGACCAGGACAGACGCCTCCACTGTGTGTGT GACCAGGACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	309	c.73+ others(328): Show c.73+107379_73+107380insTGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGTGACCAGGACAGACG ACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GTGACCAGGACAGACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACC AGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGCCTCCACTGTGT GTGTGACCAGGACAGACGCCTCCACTGTGTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(302): Show AGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA AGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0009 a0002c0016t0009	a0002c0016t0009g0014 a0002c0016t0009g0014	1	126	0.0079	309	c.199 others(328): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(302): Show ATATATATATATATATATATATATATACACATACATATACATATATACAC ATACATATACATATATACACATACATATACATATATACACATACATATAT ATATACATATATATACATATATATATACGTATATATATATACGTGTATAT ATATACACGTATATATATATACGTGTGTATATATACACATATATATACAC ATATATATATATACACATATATATATACACATATATATATATACACATAT ATATATATACACATATATATATACACACATATATATATATATATATATAT ATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0001 a0018c0011t0001	a0018c0011t0001g0065 a0018c0011t0001g0065	1	266	0.0038	309	c.730 others(328): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT ATATATGTGTGTATATATATATGTGTATATATATATATGTGTATATATAT ATATGTGTATATATATATGTGTATATATATATATGTGTATATATATGTGT ATATATACACACGTATATATATATACGTGTATATATATACACGTATATAT ATATACGTATATATATATGTATATATATGTATATATATATGTATGTGTAT ATATGTATATGTATGTGTATATATGTATATGTATGTGTATATATGTATAT GTATGTGTATATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(302): Show ATATATATATATATATATATATATATACACATACATATACATATATACAC ATACATATACATATATACACATACATATACATATATACACATACATATAT ATATACATATATATACATATATATATACGTATATATATATATACGTGTAT ATATATACACGTATATATATATACGTGTGTATATATACACATATATATAT ACACATATATATATATACACATATATATATACACATATATATATATACAC ATATATATATATACACATATATATATACACACATATATATATATATATAT ATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0167 a0008c0007t0001g0167	1	266	0.0038	309	c.730 others(328): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT ATGTGTGTATATATATATGTGTATATATATATATGTGTATATATATATAT GTGTATATATATATGTGTATATATATATATGTGTATATATATATGTGTAT ATATACACACGTATATATATATACGTGTATATATATACACGTATATATAT ATATACGTATATATATATGTATATATATGTATATATATATGTATGTGTAT ATATGTATATGTATGTGTATATATGTATATGTATGTGTATATATGTATAT GTATGTGTATATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(302): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0006 a0001c0067t0006	a0001c0067t0006g0028 a0001c0067t0006g0028	1	136	0.0074	309	c.47- others(326): Show c.47-23091_47-23090insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	262448	T T	TAAAAAAA others(302): Show TAAAAAAAACCATGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0152 a0003c0001t0001g0152	1	256	0.0039	309	c.54- others(324): Show c.54-9164_54-9163insTGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAACCATGTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	262448	T T	TAAAAAAA others(302): Show TAAAAAAAACCATGTTTGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0012 a0012	a0012c0163 a0012c0163	a0012c0163t0001 a0012c0163t0001	a0012c0163t0001g0170 a0012c0163t0001g0170	1	256	0.0039	309	c.54- others(324): Show c.54-9164_54-9163insTGGCCGGGCGCGGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAACCATGTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400602	T T	TCACCACC others(302): Show TCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACC ACCACCACCTCCTCCACCATCACCACCACCTCCACCATCACCACCACCTC CACCACCACCACCTCCTCCACCATCACCACCACCTCCACCATCACCACCT CCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACTTC CTTCACCACCACCACCATCTTCACCGTCACCACCACCTCCACCACCACCA CCTCCTCCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0117 a0008c0117	a0008c0117t0001 a0008c0117t0001	a0008c0117t0001g0016 a0008c0117t0001g0016	1	256	0.0039	309	c.323 others(328): Show c.3234+1353_3234+1354insTCCACCACCACCACCACCTCCACCAC CACCACCTCCACCACCACCACCTCCTCCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCACCTCCTCCACCATCACCACCACCTCC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCAC CACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACTTCCTTCACCACCACCACCATCTTCACCGTCACCACCACC TCCACCACCACCACCTCCTCCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400611	C C	CCTCCACC others(302): Show CCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCA CCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCACCAGCACTTCCA CCACCACCAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0003 a0009c0017t0003	a0009c0017t0003g0020 a0009c0017t0003g0020	1	256	0.0039	309	c.323 others(328): Show c.3234+1353_3234+1354insTCCACCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCA CCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCT CCACCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC ACCTCCACCACCAGCACTTCCACCACCACCATC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400791	T T	TCACCACC others(302): Show TCACCACCACCACCTCCACCATCACCACCACCACCACCTCCACCATCACC ACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCCCCACTAC CAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACCACCA CCACCACCACCTCCTCCACCATCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCATCACCACCACCTCCACCACCACCACCACCTC CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0133 a0003c0001t0001g0133	1	256	0.0039	309	c.323 others(328): Show c.3234+1542_3234+1543insACCTCCACCATCACCACCACCACCAC CTCCACCATCACCACCTCCTCCACCATCACCACCACCTCCACCACCACCA CCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACC ACCATCACCACCACCACCACCACCTCCTCCACCATCACCATCACCACCAC CTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCCACCA CCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCTCCACCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89617661	C C	CGCGGCGG others(302): Show CGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCGGGTGCGGC GGCTCACACCTGTAATCCCAGCGCTTTGGGAGGTCGGGGCGCGGCGGCTC ACACCTGTAATCCCAGCGCTGTGGGAGGCCGGGCGCGGTGGCTCACACCT GTAATCCCAGCACTTTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAATC CCAGCACTGTGGGAGGCTGGGCGCGGCAGCTCACACCTGTAATCCCAGCG CTGTGGGAGGCTGGGCGTGCTGGCTCAGGGCTGTAATCCCAGCACTTTGG GAGGTCGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0050 a0003c0004t0002g0050	1	250	0.0040	309	c.-10 others(328): Show c.-107+3981_-107+3982insCGGGTGCGGCGGCTCACACCTGTAAT CCCAGCGCTTTGGGAGGTCGGGGCGCGGCGGCTCACACCTGTAATCCCAG CGCTGTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTT GGGAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGG CTGGGCGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGC GTGCTGGCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCG GCTCACACCTGTAATCCCAGCACTTTGGGAGGT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(302): Show CCTGTAATCCCAGCACTTTGGGAGGCCAGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG GCGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGC TGGCTCAGGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	250	0.0040	309	c.-10 others(328): Show c.-107+3980_-107+3981insCCAGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(302): Show CCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGA GGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGG GCGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGC TGGCTCAGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	250	0.0040	309	c.-10 others(328): Show c.-107+3980_-107+3981insCCGGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(302): Show CCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCT GTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGA GGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGG GCGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGC TGGCTCAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	250	0.0040	309	c.-10 others(328): Show c.-107+3980_-107+3981insCCGGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619055	G G	GCTCCCTG others(302): Show GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGGCTC CCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGC AGCCCGCTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0049 a0003c0004t0002g0049	1	250	0.0040	309	c.-10 others(328): Show c.-107+5337_-107+5338insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCTGCTCCCCTCTCTGCAGCCCGCTTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619208	C C	CTCCCTGC others(302): Show CTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGGCTCC CCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCA GCCCGCTTTCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0050 a0003c0004t0002g0050	1	250	0.0040	309	c.-10 others(328): Show c.-107+5489_-107+5490insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCTGCTCCCCTCTCTGCAGCCCGCTTTCCCCCTGCTCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DST_chr6_56452996_56959830	56890108	C C	CAAAAACG others(302): Show CAAAAACGGCTCAAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAG CACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0009 a0009	a0009c0056 a0009c0056	a0009c0056t0001 a0009c0056t0001	a0009c0056t0001g0016 a0009c0056t0001g0016	1	84	0.0119	309	c.417 others(328): Show c.417+10312_417+10313insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCC GCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCGGCTTGAGCCGTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	3/103			chr6	TogoVar
ECHDC2_chr1_52890910_52926740	52923161	T T	TAAAAAAA others(302): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA21309.hp1 HG01884.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0004g0167 a0002c0003t0001g0157 a0001c0001t0004g0167 a0002c0003t0001g0157	2	314	0.0064	309	c.-14 others(320): Show c.-1489_-1488insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCCTTTTTTTTTTTTTT	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding		1422		chr1	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(302): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	428	0.0023	309	c.83+ others(322): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPSTI1_chr13_42881388_42997241	42885377	T T	TAAAAAAA others(302): Show TAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAA AAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG03098.hp2 HG02258.hp2 HG02630.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0018 a0001c0002t0014 a0002c0006t0019 a0001c0001t0018 a0001c0002t0014 a0002c0006t0019	a0001c0001t0018g0017 a0001c0002t0014g0255 a0002c0006t0019g0200 a0001c0001t0018g0017 a0001c0002t0014g0255 a0002c0006t0019g0200	3	352	0.0085	309	c.31 others(320): Show c.3116_*3117insTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCTTTTTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		1010		chr13	TogoVar
ERBB4_chr2_211370717_212543802	211657217	T T	TAAAAATC others(302): Show TAAAAATCGAGGCCGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp2 NA19240.hp2 HG02895.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0007g0043 a0001c0001t0004g0008 a0001c0001t0004g0033 a0001c0001t0007g0043	3	56	0.0536	309	c.194 others(326): Show c.1946+536_1946+537insTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTGCGGCCTCGATTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	16/27			chr2	TogoVar
ESF1_chr20_13709325_13789919	13723498	T T	TCCTAGAT others(302): Show TCCTAGATGATATTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCAGCTATTTTTTTGTATTTTTAGTAGAGA CGGAGTTTCACTGTGTTATCCAGGATGGTCTCGATCTCCTGAACTCGTGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02886.hp1 others(3): Show HG02258.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0121 a0001c0001t0004g0122 others(2): Show a0001c0001t0004g0009 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124	6	390	0.0154	309	c.203 others(328): Show c.2039-4515_2039-4514insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGTTCAGGAGA TCGAGACCATCCTGGATAACACAGTGAAACTCCGTCTCTACTAAAAATAC AAAAAAATAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAATATCATCTAGG	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	11/13			chr20	TogoVar
ESF1_chr20_13709325_13789919	13723498	T T	TCCTAGAT others(302): Show TCCTAGATGATATTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCAGCTATTTTTTTGTATTTTTAGTAGAGA CGGAGTTTCACTGTGTTATCCAGGATGGTCTCGATCTCCTGAACTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(50): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01358.hp2 HG01515.hp2 HG01934.hp2 HG01978.hp2 HG02135.hp1 HG02165.hp2 HG02273.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp1 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG04228.hp1 NA18612.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18973.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19054.hp1 NA19057.hp1 NA19066.hp2 NA19072.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0010 others(1): Show a0001c0001 a0002c0003 a0002c0010 a0002c0017	a0001c0001t0002 a0002c0003t0001 a0002c0003t0007 others(2): Show a0001c0001t0002 a0002c0003t0001 a0002c0003t0007 a0002c0010t0001 a0002c0017t0001	a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 others(48): Show a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0129 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0167 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0363 a0002c0003t0001g0364 a0002c0003t0007g0161 a0002c0010t0001g0136 a0002c0017t0001g0166	53	390	0.1359	309	c.203 others(328): Show c.2039-4515_2039-4514insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGA TCGAGACCATCCTGGATAACACAGTGAAACTCCGTCTCTACTAAAAATAC AAAAAAATAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAATATCATCTAGG	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	11/13			chr20	TogoVar
EXD3_chr9_137301896_137428162	137329060	G G	GGGGCTAC others(302): Show GGGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGGTCACAC GGGACTACACGGGGCTACACGGGACTACACGGGGCTACACGGGACTACAC AGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACAC GGGACTACACGGGGCTACACGGGACTACACGGGACTACACGGGGTCACAC GGGACTACACGGGAGTACACGGGACTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGGCTACACGGGGTCACACGGGACTACAC GGGACTACAC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0033 a0016c0026t0001g0033	1	82	0.0122	309	c.199 others(328): Show c.1999-4918_1999-4917insGTGTAGTCCCGTGTAGTCCCGTGTGA CCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAG TCCCGTGTAGTCCCGTGTACTCCCGTGTAGTCCCGTGTGACCCCGTGTAG TCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAG TCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAG CCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EYA3_chr1_27965344_28093610	28055471	T T	TTTTTTTT others(302): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0028 a0001c0001t0016g0028	1	392	0.0026	309	c.33+ others(324): Show c.33+2522_33+2523insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	2/17			chr1	TogoVar

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Search Results (Total: 10000 hits)