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
DIP2C_chr10_269201_694668	322976	CTGTTAGA others(238): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCAGTGTTGT TAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	88	0.0114	-245	c.392 others(19): Show c.3924+3785_3924+4029del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DPEP1_chr16_89608642_89643433	89618963	GCCCCCCT others(238): Show GCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCT CCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	250	0.0040	-245	c.-10 others(19): Show c.-107+5250_-107+5494del	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ERICH1_chr8_659200_736224	675514	GTGAGGAC others(238): Show GTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	378	0.0027	-245	c.305 others(17): Show c.305-1712_305-1468del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675817	CGAGGACA others(238): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02615.hp1 HG03471.hp1 others(1): Show HG01361.hp2 HG02615.hp1 HG03471.hp1 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0002 a0005c0007t0001 a0001c0002t0002 a0005c0007t0001	a0001c0002t0002g0347 a0005c0007t0001g0238 a0005c0007t0001g0239 others(1): Show a0001c0002t0002g0347 a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240	4	378	0.0106	-245	c.305 others(17): Show c.305-2015_305-1771del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERMARD_chr6_169746622_169786600	169782478	GTACCCTC others(238): Show GTACCCTCTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCGGATG GACCCTTTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCTGATGT ACCCTTTCCGAGTGGTCGGTGTGAGTCTCACTCTGCAGTCTTCTGATTTG CCCTTTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCTGATGTAC CCTTTCCGAGTGGTCGGTGTGAGTCTCACCCTGCAGTCTTCTGGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02735.hp2 HG02615.hp1 HG02735.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0153 a0001c0001t0001g0002 a0002c0002t0001g0153	2	379	0.0053	-245	c.96 others(10): Show c.966_*1210del	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding		879		chr6	TogoVar
ESYT2_chr7_158725997_158834509	158803844	TCGAGAAG others(238): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCACGGAGAAGGGTGAGG CGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGG TGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAA ACCCAAACTGTTGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18998.hp1 NA18957.hp1 NA18998.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0340 a0003c0003t0004g0341 a0003c0003t0004g0340 a0003c0003t0004g0341	2	370	0.0054	-245	c.331 others(17): Show c.331-5017_331-4773del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158803880	GGAGAAGG others(238): Show GGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGC GCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAA ACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGT GAGGCGCGCGACAAACCCAAACTGTTGAGAAGGGTGAGGCGCGCGACAAA CCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTC	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	370	0.0027	-245	c.331 others(17): Show c.331-5053_331-4809del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857096	TTATATAT others(238): Show TTATATATATATATATGTGTATATATATATGTATATATATATACACATAC ACGTATATATATATATATATATATATATATATATATATATATATATATAT ATATATTTTACCTCTACTTAACCTCCCTGGATGATTGTCTTAGTGTCACA TATATATATATATATATATATATATATACACGTATATATATATATATATA TACACGTATATATATATATATATATACACGTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	102	0.0098	-245	c.173 others(21): Show c.1735-38487_1735-38243del	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
GGT5_chr22_24214660_24250082	24238755	TATGGAAT others(238): Show TATGGAATATATATATATATATATAATATATATTATATATTTATATATAT ATAATATATTATATATATATATATATATTTATATATATATATTATATATA TTATATATATAATATATATAATATATATTATATATTTTATATATATATAT ATTATATATATTATATATATAATATATATTATATAATATATATATATATA TATAATATATATATAGCCCATGACACAGTCCTCAGGAGATCCTTGA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0237 a0002c0002t0001g0237	1	420	0.0024	-245	c.174 others(17): Show c.174-4996_174-4752del	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11			chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46631389	ACTCCTGG others(238): Show ACTCCTGGGGACCGGGGATGGGTAGAACCTCACAGCCTGTGTCCTTTCGT CTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTC TCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCT CCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTC CTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG02486.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0054 a0001c0001t0013 a0001c0001t0054	a0001c0001t0013g0055 a0001c0001t0054g0251 a0001c0001t0013g0055 a0001c0001t0054g0251	2	328	0.0061	-245	c.162 others(17): Show c.162+4461_162+4705del	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	AGCCTGTG others(238): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGC CTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCC TGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	328	0.0031	-245	c.162 others(17): Show c.162+4797_162+5041del	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GZMA_chr5_55097646_55115252	55105972	CAAAATAA others(238): Show CAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAA ATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG00735.hp2 others(21): Show HG00438.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01169.hp2 HG02055.hp1 HG02056.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0067 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0002t0001g0038	24	390	0.0615	-245	c.215 others(15): Show c.215+378_215+622del	GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
HDAC4_chr2_239043168_239406020	239068848	ACACTTGC others(238): Show ACACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG CACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGC ACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCA CTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCAC TTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	242	0.0041	-245	c.275 others(17): Show c.2751-486_2751-242del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
IRS2_chr13_109747695_109791583	109765544	AACTCCCC others(238): Show AACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGATCCA ACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAA CTCCCCACCAAGCATGTAGATATCCCAGCCTCCTCCACCTTGGCTCCAAC TCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACTTTGGCTCCTCCT CCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	398	0.0025	-245	c.401 others(19): Show c.4013-9481_4013-9237del	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
IRS2_chr13_109747695_109791583	109766225	ACTCCAAC others(238): Show ACTCCAACTCCCCACCAAACATGTAGATATCCCAGCCTCATCCACCCTGG CTCCGACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGAC TCCAACTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACT CCGACTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTC CGACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0175 a0001c0005t0010g0175	1	398	0.0025	-245	c.401 others(20): Show c.4013-10162_4013-9918del	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
IRS2_chr13_109747695_109791583	109766439	GCATGTAG others(238): Show GCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAG CATGTAGATATCCCAGCCTCATCCACCCTGACTCCGACTCCCCACCAAGC ATGTAGATATCCCAGCCTCATCCACCTTGGCTCCAACTCCCCACCAAGCA TGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAGCAT GTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03195.hp1 HG06807.hp2 HG01243.hp2 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0015 a0001c0004t0048 a0001c0001t0015 a0001c0004t0048	a0001c0001t0015g0018 a0001c0004t0048g0294 a0001c0001t0015g0018 a0001c0004t0048g0294	3	398	0.0075	-245	c.401 others(21): Show c.4013-10376_4013-10132del	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
ITGB2_chr21_44880953_44925899	44912781	ACCCCAGG others(238): Show ACCCCAGGGTGCAGGGTCCAGCCAGCTTCAGGACTCCCCCAGGGTGCAGG GTCCAGCCGGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCA GGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCAGGACTCCCCCAGGGT GCAGGGTCCAGCCGGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCGG CTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCAGGACTC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp1 HG04115.hp1 others(2): Show HG01070.hp1 HG01243.hp1 HG04115.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0014 a0001c0039 a0001c0005 a0001c0014 a0001c0039	a0001c0005t0002 a0001c0014t0001 a0001c0014t0002 others(1): Show a0001c0005t0002 a0001c0014t0001 a0001c0014t0002 a0001c0039t0001	a0001c0005t0002g0210 a0001c0014t0001g0321 a0001c0014t0002g0261 others(2): Show a0001c0005t0002g0210 a0001c0014t0001g0321 a0001c0014t0002g0261 a0001c0014t0002g0351 a0001c0039t0001g0331	5	444	0.0113	-245	c.-3- others(15): Show c.-3-2241_-3-1997del	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
JPH3_chr16_87597508_87703156	87614677	TGAGGAGC others(238): Show TGAGGAGCCGCGCGTCCCCTCCCGGGATAAACTCTGGTCCCTGCACACAC GAGGAGCCGCGCGTCCCCTCCCGGGATAAACGCTGGTCCCTGCACACACG AGGAGCCGCGTGTCCTCTCCCAGGATAAACGCTGGTCCCTGCACACGTGA GGAGCTGTGCGTCCCTTCCCGGGATAAACGCTGGTCCCTGCACACACGAG GAGCCGCGCGTCCCCTCCCGGGATAAACGCTGGTCCCTGCACACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	380	0.0026	-245	c.382 others(19): Show c.382+11181_382+11425del	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
LCN1_chr9_135516440_135531540	135527939	TAGACCTT others(238): Show TAGACCTTGTGACCTCACAGGTGCGTCCTCCCCACTGTGCCTCGGGTCAT AGACCTTGTGACCTCACAGGTGCGTCCTCCCCACTCTGCCTCATGTCACA GACCTTGTGACCTCACAGGTGCGTCCTCCCCACTATGCCTCATGTCACAG ACCTTGTGACCTCACAGGTGCGTCCTCCCCACTCTGCCTCATGTCACAGA CCTTGTGACCTCACAGGTGCGTCCTCCCCACTATGCCTCATGTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG02572.hp2 others(10): Show HG01255.hp2 HG01891.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02970.hp2 HG03453.hp1 HG06807.hp1 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0026 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068	13	436	0.0298	-245	c.15 others(11): Show c.1598_*1842del	LCN1	ENSG00000160349.10	transcript	ENST00000371781.4	protein_coding		1400		chr9	TogoVar
MAP3K15_chrX_19355059_19520508	19452163	GAGAAGAG others(238): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGA AGAGAAGAGAAGAGAGAAAAGAAAAGAGAAAAGAAAAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0013 a0002c0002t0008g0013	1	163	0.0061	-245	c.995 others(17): Show c.995+4505_995+4749del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MYZAP_chr15_57586904_57690364	57688157	TATGTGTG others(238): Show TATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATA TATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATA TTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACATA TATAATATGTGTGTACAATATACACATATATATAATATGTGTGTACAATA TACACATATATATAATATGTGTGTACAATATACACATATAATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 NA18522.hp1 HG00323.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0343 a0001c0003t0003g0146 a0001c0001t0001g0343 a0001c0003t0003g0146	2	352	0.0057	-245	c.36 others(11): Show c.3660_*3904del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2794		chr15	TogoVar
NEDD4L_chr18_58039226_58406539	58171193	CCCGCCTC others(238): Show CCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCA TCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAG CCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGG ACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGGACAC TGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0098 a0001c0002t0025g0098	1	118	0.0085	-245	c.122 others(17): Show c.122+5335_122+5579del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NOVA1_chr14_26438090_26603033	26476759	CAGGCTGG others(238): Show CAGGCTGGAGTACAATGGCGCGATCTTGGCTCACTGCAACCTCCACAACC AGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGCAGCTGTGACTACAG GCATGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGT TTCTCTATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGCTCTG CTCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02572.hp2 others(5): Show HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp2 HG02886.hp2 HG03209.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0004g0125 others(5): Show a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0004g0125 a0001c0001t0006g0037 a0001c0001t0007g0209 a0001c0001t0009g0039 a0001c0001t0010g0210 a0001c0001t0014g0038	8	244	0.0328	-245	c.447 others(17): Show c.447+2973_447+3217del	NOVA1	ENSG00000139910.20	transcript	ENST00000539517.7	protein_coding	3/4			chr14	TogoVar
PLCXD1_chrX_276381_308356	297176	TCACATGG others(238): Show TCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATC ACATGGGGATCAGGACGTGGACATCTTTGGGGACATTATCCTGTCTATCA CATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCCAC ATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(11): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG01361.hp2 HG02080.hp1 HG02155.hp1 HG02165.hp1 NA18947.hp2 NA18950.hp2 NA18972.hp2 NA18988.hp1 NA18991.hp2 NA19011.hp2 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0007c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0028 a0001c0001t0061 a0001c0001t0068 a0001c0001t0071 a0001c0001t0079 a0001c0002t0019 a0001c0002t0039 a0001c0003t0014 a0001c0006t0003 a0007c0012t0005	a0001c0001t0001g0005 a0001c0001t0001g0158 a0001c0001t0005g0038 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0158 a0001c0001t0005g0038 a0001c0001t0007g0121 a0001c0001t0028g0070 a0001c0001t0061g0033 a0001c0001t0068g0034 a0001c0001t0071g0052 a0001c0001t0079g0001 a0001c0002t0019g0130 a0001c0002t0039g0127 a0001c0003t0014g0048 a0001c0006t0003g0118 a0007c0012t0005g0001	14	176	0.0796	-245	c.734 others(17): Show c.734-1873_734-1629del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297274	TCACATGG others(238): Show TCACATGGGGATCAGGACGTGGACATCTTTGGGGACATTATCCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCC ACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCCA CATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCAC ATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02559.hp2 HG02886.hp1 others(9): Show HG01346.hp2 HG02559.hp2 HG02886.hp1 HG02896.hp1 HG03017.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp1 HG03927.hp2 HG04199.hp1 NA18941.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 others(8): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0114 a0001c0003t0044	a0001c0001t0015g0073 a0001c0001t0016g0082 a0001c0001t0016g0098 others(9): Show a0001c0001t0015g0073 a0001c0001t0016g0082 a0001c0001t0016g0098 a0001c0001t0017g0007 a0001c0001t0025g0079 a0001c0001t0033g0078 a0001c0001t0034g0069 a0001c0001t0084g0091 a0001c0001t0085g0090 a0001c0001t0087g0060 a0001c0001t0114g0013 a0001c0003t0044g0115	12	176	0.0682	-245	c.734 others(17): Show c.734-1811_734-1567del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297406	CCATTATT others(238): Show CCATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGA CATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCT GTTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGT TATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	176	0.0114	-245	c.734 others(17): Show c.734-1677_734-1433del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298092	ACATTATT others(238): Show ACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGA CATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGAC ATTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACAT TATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGC	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	176	0.0057	-245	c.734 others(15): Show c.734-893_734-649del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	298491	TCTGTCTC others(238): Show TCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATT CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTC TGTCTATCACATGGGGATTACGACGTGGACATCTTTGGGGACATTATTCT GTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTG TCTATCACATGGGGATCAGGACGTGGACATCTTTGGGGCCATTATC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18959.hp1 HG01891.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0086 a0001c0001t0001 a0001c0001t0086	a0001c0001t0001g0046 a0001c0001t0086g0061 a0001c0001t0001g0046 a0001c0001t0086g0061	2	176	0.0114	-245	c.734 others(15): Show c.734-599_734-355del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PPP1R8_chr1_27825782_27856676	27853796	GGGGGTCA others(238): Show GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02647.hp2 HG02055.hp2 HG02145.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0026 a0001c0001t0001g0066 a0001c0001t0001g0072	3	340	0.0088	-245	c.33 others(11): Show c.3351_*3595del	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		2121		chr1	TogoVar
PRIMA1_chr14_93713298_93793485	93722106	GTGGTGGT others(238): Show GTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGG TAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03471.hp2 HG02717.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0021 a0001c0003t0032 a0001c0001t0021 a0001c0003t0032	a0001c0001t0021g0235 a0001c0003t0032g0333 a0001c0001t0021g0235 a0001c0003t0032g0333	2	397	0.0050	-245	c.360 others(15): Show c.360-805_360-561del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2094384	ATTCTGAG others(238): Show ATTCTGAGGCGCCCGCTGTGCCCGGCTCGTTGAACCTTGGGCGCTGCCCG TTCTGAGGCACCCGCTGTGCCCGGCTCGTTGAACCTTGGGCGCTGCCCGT TCTGAGGCGCCCTCTGTGCCCGGCTCGTTGAACCTTGGGCGCTGCCCGTT CTGAGGCGCCCTCTGTGCCCGGCTCGATGAACCTTGGGCGCTGCCCGTTC TGAGGCGCCCGCTGTGCCCGGCTCGATGAACCTTGGGCGCTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp2 HG02622.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0113 a0001c0001t0001g0048 a0001c0001t0001g0113	2	286	0.0070	-245	c.334 others(19): Show c.334+34852_334+35096del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGPD4_chr2_107821892_107897544	107828834	CGGCGGCC others(238): Show CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGCGCTGCTCCC TGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCCGCGGCGGCCTC GATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTC TGTTGAGGCGGCGGCCTCTACCCGGCCCGGCGGCGGCCTCGATGGCTCAG GCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGA	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	374	0.0027	-245	c.72+ others(15): Show c.72+1756_72+2000del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAMD12_chr8_118372984_118626963	118409745	AAATTGGC others(238): Show AAATTGGCTCACATAAAATAGACTCAAAGTTAAAATAGTTCTTGAAAACC AGTAAGATAATGAAGCTGGCACATTTCACTCCAAAGTAAAACATTTAATT AGCTGCACTAATCATGTAAAAGCAACAATAATGTTCCACTCTTTAAGAAG ATGGCCTCTGCATTCAAAATTATCAAGAAAGACTAATTTATATGTTTATT TTATCCACCATTGTTAACTATGAATGTCATCATAAAGTACACGTAT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	188	0.0053	-245	c.322 others(19): Show c.322+29842_323-30046del	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	3/3			chr8	TogoVar
SLC12A7_chr5_1045384_1117063	1071082	GAGCCCCC others(238): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCC CAGTGAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0009 a0006c0019t0009	a0006c0019t0009g0013 a0006c0019t0009g0013	1	118	0.0085	-245	c.224 others(19): Show c.2241+2306_2241+2550del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(238): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCG CCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp1 NA19012.hp2 others(1): Show HG01071.hp2 HG01074.hp1 NA19012.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0011 a0001c0003t0008 a0002c0002t0002 a0001c0001t0011 a0001c0003t0008 a0002c0002t0002	a0001c0001t0011g0154 a0001c0003t0008g0038 a0001c0003t0008g0112 others(1): Show a0001c0001t0011g0154 a0001c0003t0008g0038 a0001c0003t0008g0112 a0002c0002t0002g0076	4	218	0.0184	-245	c.212 others(17): Show c.212-3551_212-3307del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMYD3_chr1_245744347_246512279	246275365	GTTTTTTA others(238): Show GTTTTTTACTAGCTGTATTAACACTGGCAAGTTATTTAATGTTTCTAGTG GAGTCTGATGCCCATGTTTGAATACTAACTCCGTTTTTTACTAGCTGTAT TAACACTGGCAGGTTATTTAATGTCTCTAGTGGAGTCTGATGCCCATGTT TGAATACTAACTCTGTTTTTCACTAGCCGTGTTAACACTGGCAAGTTATT TAATGTTTCTAGTGGAGTCTGATGCCCATGTTTGAATACTAACTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(64): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03491.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19000.hp2 NA19057.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0016 a0002c0017 a0004c0013 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0011t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 a0002c0017t0001 a0004c0013t0002 a0005c0015t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(64): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0037 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0006t0001g0035 a0001c0011t0002g0049 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0109 a0002c0003t0001g0148 a0002c0003t0002g0104 a0002c0003t0002g0131 a0002c0004t0001g0098 a0002c0004t0001g0121 a0002c0004t0001g0149 a0002c0005t0001g0138 a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0016t0001g0097 a0002c0017t0001g0122 a0004c0013t0002g0072 a0005c0015t0002g0094	67	150	0.4467	-245	c.531 others(19): Show c.531+51591_531+51835del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129855945	AGGGGAAC others(238): Show AGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp1 HG02109.hp1 others(2): Show HG00099.hp1 HG01891.hp1 HG02109.hp1 HG03471.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0004 a0002c0003t0026	a0001c0001t0001g0012 a0001c0001t0002g0038 a0001c0001t0020g0073 others(2): Show a0001c0001t0001g0012 a0001c0001t0002g0038 a0001c0001t0020g0073 a0001c0002t0004g0023 a0002c0003t0026g0093	5	94	0.0532	-245	c.79+ others(17): Show c.79+47071_79+47315del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM163_chr2_134450759_134724000	134607865	GACAGACC others(238): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	222	0.0045	-245	c.323 others(19): Show c.323-56019_323-55775del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMTC2_chr12_82681906_83139866	82900207	CTGTAGGA others(238): Show CTGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATA TACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATA TAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAAT GTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCG GAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG01884.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0034 a0001c0001t0011 a0001c0001t0034	a0001c0001t0011g0068 a0001c0001t0034g0001 a0001c0001t0011g0068 a0001c0001t0034g0001	2	96	0.0208	-245	c.148 others(19): Show c.1483+3711_1483+3955del	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRIM46_chr1_155168849_155189970	155188973	GGCGGTGG others(238): Show GGCGGTGGAGCCCGGGGGCCGGCCTGGTGTCCGGTGCCGAGGTGACACCG TGGGCTGGGGGGGCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGA GGTGACACCGTGTGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCTGTTTTAAATATACACCGTGGGCTGCGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG04199.hp2 NA18993.hp2 others(3): Show HG02897.hp1 HG04199.hp2 NA18993.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0002t0001g0009 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0012	6	348	0.0172	-245	c.47 others(11): Show c.4784_*5028del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4004		chr1	TogoVar
TSPAN9_chr12_3072379_3291559	3096439	TCCTTCTG others(238): Show TCCTTCTGAAGAGCAGAGGCCTTGGTTTTCCATTCACTGGTGCTTTCCCT GTTTTCTCATTGCCTGGCACCTGGTGGACACAGAAATATTTTTTGAATGA ATGAATGAATGAATATTGCACTTGTGATCTAAGAGATGTGGCCCTAATCT CATCCATTTCCCCAGGACACTTAGACACTTGCTTGCTTTAAAACCACCCA TCTTCATATTGCAGGGGTTTCAAACATTTCAGGAGAGGCAGTGAGG	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	288	0.0035	-245	c.-18 others(19): Show c.-18+12721_-18+12965del	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8			chr12	TogoVar
ZNF584_chr19_58403649_58423327	58410541	ATATATAT others(238): Show ATATATATATATATATATGTGTATATATATATGTATATATATGTATATAT ATGTATATATATGTATATATATGTGTATATATGTGTATATATGTGTATAT ATATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTATAT ATGTATATATATATGTATATATGTGTATATATATATGTATATATATATAT GTGTGTATATATATATATATATGTATATATATATATAATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01993.hp2 HG02735.hp1 others(1): Show HG00733.hp2 HG01993.hp2 HG02735.hp1 NA18953.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0253 a0003c0003t0004g0254 a0003c0003t0004g0255 others(1): Show a0003c0003t0004g0253 a0003c0003t0004g0254 a0003c0003t0004g0255 a0003c0003t0004g0266	4	426	0.0094	-245	c.169 others(15): Show c.169+452_169+696del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410545	ATATATAT others(238): Show ATATATATATATATGTGTATATATATATGTATATATATGTATATATATGT ATATATATGTATATATATGTGTATATATGTGTATATATGTGTATATATAT GTGTATATATGTGTATATATGTATATATGTGTATATATATGTATATATGT ATATATATATGTATATATGTGTATATATATATGTATATATATATATGTGT GTATATATATATATATATGTATATATATATATAATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0244 a0003c0005t0004g0244	1	426	0.0024	-245	c.169 others(15): Show c.169+456_169+700del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235110	CCTCCACT others(238): Show CCTCCACTCCAACCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCT CTGATTGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGG CCAAGTCTCCACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCC AGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACC GTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0124 a0003c0004t0001g0338 a0003c0004t0001g0124 a0003c0004t0001g0338	2	362	0.0055	-245	c.-12 others(20): Show c.-127-10182_-127-9938del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235145	CCTCCACT others(238): Show CCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGTCTCCACTCCAGCCT CTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACCGTGGG CCAAGTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCC AGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACG GTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACCGTGGGCCAAGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	362	0.0028	-245	c.-12 others(20): Show c.-127-10217_-127-9973del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235554	CGTGGGCC others(238): Show CGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTC CACTCCAGCCTCTGATTGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGA TGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACCGTGGGCCAA GTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGTC TCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02258.hp2 others(12): Show HG01884.hp1 HG01891.hp1 HG02258.hp2 HG02486.hp1 HG02622.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0062 a0001c0001t0001g0082 a0001c0001t0001g0093 others(12): Show a0001c0001t0001g0062 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0143 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0234 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0332 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0003t0001g0092	15	362	0.0414	-245	c.-12 others(21): Show c.-127-10626_-127-10382del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235693	CCGTGGGC others(238): Show CCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGCCT CCACTCCAGTCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTG ATGGACAGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCA AGCCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCATTCCAGC CTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	362	0.0028	-245	c.-12 others(21): Show c.-127-10765_-127-10521del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56236510	TCTCCACT others(238): Show TCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGCCT CTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGG CCAAGCCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCATTCC AGCCTCTGATGGACGGTGGGCCAAGCCTCCATTCCAGCCTCTGATGGACG GTGGGCCACGCCTCCACTCCAACCTCTGATTGACCGTGGGCCAAGC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	362	0.0028	-245	c.-12 others(21): Show c.-127-11582_-127-11338del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
CAMK2B_chr7_44212154_44330594	44227064	GGGGTCAT others(237): Show GGGGTCATGGGGGATGGGGGTGCGTGAGGGGACCAAGGTGGATGTGGGGG ACAGAGGGAGTGTGGAGGACAGAGGGGGATGTGGGGGACAGAGAGAGGTG CAGGGGACAGAGGAGGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAG GGGGATGTGGGGGACAGAGGGGAAGTGGAAGACAGAGGGGGTGTGGGGGA CAGAAGGCGGTGTGGGGAACAGAGGGGGAGGTGGGGGACAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00741.hp1 others(40): Show HG00323.hp1 HG00438.hp2 HG00741.hp1 HG01106.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA19005.hp2 NA19067.hp1 NA19068.hp2 NA19081.hp1 NA19084.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0015 a0001c0020 a0004c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0007t0001 a0001c0007t0009 a0001c0008t0001 a0001c0015t0001 a0001c0020t0001 a0004c0018t0001	a0001c0001t0001g0062 a0001c0001t0004g0063 a0001c0001t0009g0234 others(39): Show a0001c0001t0001g0062 a0001c0001t0004g0063 a0001c0001t0009g0234 a0001c0002t0001g0043 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0092 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0145 a0001c0002t0001g0151 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0181 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0001g0199 a0001c0002t0001g0208 a0001c0002t0001g0233 a0001c0002t0006g0003 a0001c0002t0006g0055 a0001c0002t0006g0115 a0001c0002t0006g0165 a0001c0002t0009g0085 a0001c0002t0009g0191 a0001c0002t0012g0044 a0001c0002t0012g0229 a0001c0002t0018g0082 a0001c0002t0019g0095 a0001c0002t0020g0074 a0001c0002t0021g0197 a0001c0007t0001g0051 a0001c0007t0009g0057 a0001c0008t0001g0012 a0001c0008t0001g0143 a0001c0008t0001g0202 a0001c0008t0001g0203 a0001c0015t0001g0073 a0001c0015t0001g0215 a0001c0020t0001g0235 a0004c0018t0001g0160	43	242	0.1777	-244	c.146 others(17): Show c.1469-664_1469-421del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CCDC6_chr10_59783747_59911556	59882070	CGCGGGGA others(237): Show CGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGA TGAAGGAATATGAAATGCCGGGGGGAGAAGGAAAGGTAAAGCCGCGGGGA GTAAGGAAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGCCGGGGGGAT GAATGGAAAGGTAATGCTCGGCGGGAGAATGGAAAGGAAAGCCGG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0015 a0001c0005t0004g0015	1	288	0.0035	-244	c.303 others(19): Show c.303+23808_303+24051del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar

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Search Results (Total: 10000 hits)