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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
VSIG8_chr1_159849316_159867657	159857659	ACTGATAA others(176): Show ACTGATAACCCAAGGAAACCCCAACAGGTCCCAGAGTCCCTGATCTTCCA CTCACCCCCGACTGCCCTCATCCAGGGCCCTCTCACCTTGGTTTATGGAG CTGTGGAAGGACTCCTGGTAGGACAGCTCTGAGTGGTAGCTGTGCTGGGA GGTGTAAGACCCAGCTCGATAGGGGTAATGGTGC	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18747.hp2 NA18747.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0113 a0006c0010t0002g0113	1	458	0.0022	-183	c.555 others(10): Show c.555_652+85del	p.His others(5): Show p.His186fs	VSIG8	ENSG00000243284.1	transcript	ENST00000368100.1	protein_coding	4/7	555/1245	185/414			chr1	TogoVar
ZNF618_chr9_113871309_114061593	113955203	CTTAGAGA others(176): Show CTTAGAGAGTTTGACTGGCTGTTGCCACCCTGACTCACCCCGTGGAAGTC ACTGTAAGCTCATGACTGCCCTAATGAATTCAAGGTACCAGATTTCCACA CCCCACCCCCACACTGCAAAGAAAACAGAATTGTAGAATAATTTCAAAAT AGTCTGGTTGTCTAGATTTCTCAGCAGGCACCCA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18906.hp2 HG02647.hp2 NA18906.hp2	a0001 a0001	a0001c0011 a0001c0019 a0001c0011 a0001c0019	a0001c0011t0030 a0001c0019t0093 a0001c0011t0030 a0001c0019t0093	a0001c0011t0030g0164 a0001c0019t0093g0163 a0001c0011t0030g0164 a0001c0019t0093g0163	2	264	0.0076	-183	c.34- others(17): Show c.34-13911_34-13729del		ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14				INFO_REALIGN_3_PRIME	chr9	TogoVar
AARSD1_chr17_42945526_42969454	42967167	TTATATAA others(175): Show TTATATAATATATAATATAATATATAAAATATATATTATATAATATATAA TATAATATATAAAATATATATTATATAATATATAATATAATATATAAAAT ATATATTATATAATATATAATATAATATATAAAATATATATTATATAATA TATAATATAATATATAAAATATATATTATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02886.hp1 others(4): Show HG02647.hp1 HG02723.hp2 HG02886.hp1 HG03209.hp1 HG03654.hp2 HG04204.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0071	7	324	0.0216	-182	c.-29 others(11): Show c.-2909_-2728del		AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding				2714		chr17	TogoVar
ABCG1_chr21_42214140_42302244	42283837	TCCCCCCG others(175): Show TCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGAC AGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTC CCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCC CCACCTCTGTCCCGCCTGGACAGTTGCGAAGTC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	354	0.0028	-182	c.735 others(15): Show c.735-546_735-365del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14				INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42284018	TCCCCCCC others(175): Show TCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGA CAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGT CCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCC CCCACCTCTGTCCCGCCTGGACAGTTGCAAAGT	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	354	0.0028	-182	c.735 others(15): Show c.735-535_735-354del		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14				INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAP2_chr3_195269745_195448020	195303418	AATACATA others(175): Show AATACATACATACATACAAATTAGCTAGGCATGGTGGTGCACACCTGTGG TCCCAGCTACTCAGAAGGCTGAGGCATGAGAATCACTTAAACCCAGGAGG CAGAGGTTGCAGTGAGCCAAGATCATGACACCGTACTCCAGCCTGGGTGA CAGAGTGAGACTCCATCATATGTACATAAATAC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	324	0.0031	-182	c.111 others(19): Show c.1117-1426_1117-1245del		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	13/22					chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288210	TCTGCTCC others(175): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02074.hp1 NA19077.hp2 others(2): Show HG01952.hp1 HG02074.hp1 NA19077.hp2 NA19087.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0004c0009t0003 a0001c0001t0002 a0001c0001t0003 a0004c0009t0003	a0001c0001t0002g0001 a0001c0001t0002g0153 a0001c0001t0002g0180 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0153 a0001c0001t0002g0180 a0001c0001t0003g0002 a0004c0009t0003g0124	5	295	0.0170	-182	c.51 others(11): Show c.5172_*5353del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding				4180		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289494	TGTCTCTG others(175): Show TGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	295	0.0034	-182	c.38 others(11): Show c.3888_*4069del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding				2896		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289946	TCCCGTGT others(175): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 NA18954.hp1 NA18966.hp1 others(2): Show HG02300.hp1 NA18954.hp1 NA18966.hp1 NA19009.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0050 a0001c0001t0001g0170 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0170 a0001c0001t0001g0183 a0001c0001t0003g0002	5	295	0.0170	-182	c.34 others(11): Show c.3436_*3617del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding				2444		chr1	TogoVar
AGMO_chr7_15195317_15567015	15354334	GTATATAC others(175): Show GTATATACACGCGTGTATATAGACGTGTGTATATAGACGTGTGTATACAC GTGTGTGTATACACGTGTGTGTACACACGTGTGTGTATACACACACGTGT GTGTATACACACGTGTGTGTATACACACGTGTGTGTATACACACGTGTGT ATATACACACGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0011 a0004c0008t0011	a0004c0008t0011g0226 a0004c0008t0011g0226	1	236	0.0042	-182	c.126 others(21): Show c.1263+10998_1263+11179del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12					chr7	TogoVar
ALOXE3_chr17_8090900_8123514	8107816	AGAAAGAA others(175): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	422	0.0024	-182	c.168 others(17): Show c.1684+470_1684+651del		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15					chr17	TogoVar
ASB3_chr2_53664980_53791953	53671695	GTTGCAGT others(175): Show GTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGA GGGAAACTCCTTCTCAAAAAAAAAAAGAAAAGAATCATATGATAGCAGTT TCATTTTCCAAGATGAAAAGTGTTAAATAAAGAAGTTAATGTCTGCTTTT ATGTGAATCGGACCAAAGCCTTTTGTTAATTCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp1 HG01081.hp1 others(15): Show HG00408.hp2 HG01074.hp1 HG01081.hp1 HG01515.hp2 HG02451.hp2 HG02572.hp2 HG02683.hp2 HG02818.hp1 HG02922.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 others(15): Show a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0274 a0001c0001t0001g0311 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0334 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0324	18	350	0.0514	-182	c.137 others(19): Show c.1370-1187_1370-1006del		ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	9/9					chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82975582	TATGGAGA others(175): Show TATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGA CCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCAT CCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAG CCGGACTCCATCCTCCCAGGGACCAGAGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01257.hp2 others(13): Show HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG02451.hp1 HG02559.hp1 HG02886.hp1 HG03041.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 a0001c0002t0001 a0001c0003t0015 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0002c0010t0007	a0001c0001t0001g0186 a0001c0001t0002g0178 a0001c0001t0004g0247 others(12): Show a0001c0001t0001g0186 a0001c0001t0002g0178 a0001c0001t0004g0247 a0001c0001t0005g0256 a0001c0001t0014g0248 a0001c0001t0017g0177 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0003t0015g0198 a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0017g0145 a0002c0010t0007g0004 a0002c0010t0007g0216	16	266	0.0602	-182	c.460 others(18): Show c.460-10018_460-9837del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12					chr17	TogoVar
CAMK2B_chr7_44212154_44330594	44227368	GGGGGACA others(175): Show GGGGGACAGACGGAGTGTGGGGGACAGAGGGAGAGTCTGGGGGACAGAGG GGGTGTGGGGGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGGGGAC AGAAGGGGGTATGGGGGGCAGGGGGTGGAGGACAGAGGAGGGTGTGGGGG ACAGAGGGGGATATGGGGGACAGAGGGAGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	242	0.0041	-182	c.146 others(17): Show c.1469-906_1469-725del		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23					chr7	TogoVar
CCDC127_chr5_191868_223153	212428	TGGACAGC others(175): Show TGGACAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCC ACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCA ATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGACGAGA CAGCACCACACACCCATCAGGATGGGGCAGACG	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0153 a0006c0005t0153	a0006c0005t0153g0074 a0006c0005t0153g0074	1	406	0.0025	-182	c.121 others(17): Show c.121+4119_121+4300del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2					chr5	TogoVar
CCDC127_chr5_191868_223153	212751	TGAGACAG others(175): Show TGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGT GAGCATGCTGAGATGCTCGACATTGCACACTGCAGCCACGATGAGACAGC ACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCT GAGATGCTCGACATTGCACACTGCAGCCACGAC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02071.hp2 HG03669.hp1 others(4): Show HG01361.hp2 HG02071.hp2 HG03669.hp1 NA18941.hp1 NA18968.hp2 NA18988.hp1 NA19064.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0153 a0001c0001t0001 a0006c0005t0153	a0001c0001t0001g0018 a0001c0001t0001g0057 a0001c0001t0001g0070 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0006c0005t0153g0074	7	406	0.0172	-182	c.121 others(17): Show c.121+3796_121+3977del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2					chr5	TogoVar
CDC73_chr1_193117031_193259815	193161730	ATATATAA others(175): Show ATATATAATATATATCATATTATATTGTATATAATATATATCATATTATA TTGTATATAATATATATCATATTATATTGTATATAATATATATCATATTA TATTGTATATAATATATATCATATTATATTGTATATAATATATATCATAT TATATTGTATATAATATATATCATATTATATTG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	274	0.0037	-182	c.972 others(17): Show c.972+9488_972+9669del		CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16				INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP112_chr17_65630537_66197133	65712374	TTAGATCT others(175): Show TTAGATCTCTAAGGAGACTGAAATATTCTGTATTTATATGTCAGGTGGAA CGCTGCCTGGAGAAATGACGGCTAACATTGCTTATATCTCAGGCAGAAAT AGTTTCAAGTACTTTTGATTTATGGCATATTAAAAATGCTTGCAGAAATA ACATAAAACAGGACAGGGCTATTCGCGTCACTA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0043 a0002c0001t0001g0043	1	112	0.0089	-182	c.260 others(21): Show c.2608-23338_2608-23157del		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	23/26					chr17	TogoVar
CEP72_chr5_607340_658553	648179	ATGAGGTG others(175): Show ATGAGGTGTGACCACGAGGCATGGACTGTGAGATGGGACTGTGAGGTATG TGACCATGGGGTGTGGGCTGTGAGGTATCAACCCTGAGTGTGAGATGTGA CTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTATGACTGTGAGGCA TGGACTGTGAGGTGTGACTGTGAGGTGTGACTG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02451.hp2 others(3): Show HG01256.hp2 HG01258.hp1 HG02451.hp2 NA19010.hp1 NA20129.hp1 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0002 a0003c0005t0002 a0003c0003t0002 a0003c0005t0002	a0003c0003t0002g0020 a0003c0003t0002g0022 a0003c0003t0002g0023 others(3): Show a0003c0003t0002g0020 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0005t0002g0014 a0003c0005t0002g0019	6	91	0.0659	-182	c.177 others(17): Show c.1778+357_1778+538del		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11				INFO_REALIGN_3_PRIME	chr5	TogoVar
CERCAM_chr9_128415857_128442347	128437888	CACATACA others(175): Show CACATACACGTATATACACGTATATACACATACACGTATATACACGTATA TACACACACGTATATACACGTATATACACACACGTATATACACGTATATA CACACACGTATATACACGTATATACACACACGTATATACACGTATATACA CACACGTATATACACGTATATACACACACGTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02559.hp1 others(9): Show HG01109.hp2 HG02145.hp2 HG02559.hp1 HG02809.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0011 a0002c0004 others(1): Show a0001c0003 a0001c0011 a0002c0004 a0002c0005	a0001c0003t0003 a0001c0011t0002 a0002c0004t0002 others(1): Show a0001c0003t0003 a0001c0011t0002 a0002c0004t0002 a0002c0005t0002	a0001c0003t0003g0198 a0001c0011t0002g0189 a0002c0004t0002g0192 others(5): Show a0001c0003t0003g0198 a0001c0011t0002g0189 a0002c0004t0002g0192 a0002c0004t0002g0193 a0002c0004t0002g0194 a0002c0005t0002g0009 a0002c0005t0002g0208 a0002c0005t0002g0209	12	400	0.0300	-182	c.10 others(11): Show c.1041_*1222del		CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding				542		chr9	TogoVar
CLN8_chr8_1758789_1791570	1763462	GCCGCGCC others(175): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01361.hp1 others(21): Show HG00741.hp2 HG01099.hp1 HG01361.hp1 HG01884.hp2 HG02109.hp1 HG02258.hp2 HG02572.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG03491.hp1 HG03834.hp1 HG03942.hp2 HG04204.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18968.hp2 NA19005.hp1 NA19066.hp1 NA19082.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0038 a0001c0001t0064 a0001c0001t0089 a0001c0001t0099 a0001c0001t0100 a0001c0001t0110 a0001c0001t0115	a0001c0001t0001g0019 a0001c0001t0003g0005 a0001c0001t0004g0004 others(15): Show a0001c0001t0001g0019 a0001c0001t0003g0005 a0001c0001t0004g0004 a0001c0001t0005g0003 a0001c0001t0005g0075 a0001c0001t0005g0129 a0001c0001t0007g0002 a0001c0001t0007g0020 a0001c0001t0007g0088 a0001c0001t0009g0020 a0001c0001t0016g0024 a0001c0001t0038g0015 a0001c0001t0064g0099 a0001c0001t0089g0084 a0001c0001t0099g0004 a0001c0001t0100g0033 a0001c0001t0110g0003 a0001c0001t0115g0032	24	413	0.0581	-182	c.-54 others(9): Show c.-546_-365del		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding				326		chr8	TogoVar
COL18A1_chr21_45400165_45518720	45437334	TCAGACAC others(175): Show TCAGACACACAGGCACTCTCCTGCGCACACACACACACTCAGACACACAG GCACTCTCCTGCACACACACACTCACACTCAGACACACAGGCACTCTCCT GCACACACACACTCACTCACAGACAGACACACAGGCACTCTCCTGCACAC ACTCACACTCACACACAGGCACTCTCCTGCACA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG01258.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0287 a0001c0003t0001g0110 a0001c0003t0001g0287	2	292	0.0069	-182	c.107 others(19): Show c.107-30905_107-30724del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41				INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116129494	GTATATAT others(175): Show GTATATATATACTATATACTAATGTAATATACATTAGTATATATATACTA TATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAAT ATACATTAGTATATATATACTATATACTAATGTAATATACATTAGTATAT ATATACTATATACTAATGTAATATACATTAGTA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0343 a0001c0002t0001g0343	1	350	0.0029	-182	c.400 others(17): Show c.400-4565_400-4384del		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587950	CCCGTGTT others(175): Show CCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGG CCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0340 a0004c0020t0001g0340	1	348	0.0029	-182	c.928 others(15): Show c.928-723_928-542del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
DCAKD_chr17_45018344_45056632	45051706	GGGCCGGG others(175): Show GGGCCGGGAGAGGTTGGGTGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGG CGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGG AGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGG CGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0156 a0001c0002t0015g0156	1	408	0.0025	-182	c.-64 others(9): Show c.-642_-461del		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding				75		chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051892	CGCGGGAG others(175): Show CGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCG GGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGG CGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAG GTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0330 a0001c0001t0003g0330	1	408	0.0025	-182	c.-82 others(9): Show c.-828_-647del		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding				261		chr17	TogoVar
DCTD_chr4_182885091_182922386	182889524	GCCCCTAG others(175): Show GCCCCTAGACATATTTATCAATGTGATGTGATGAAAATGACACACTCCAT CCTAACAGGACTCACAACTCTTGTGACTTGCGGCAATAGAGAAATCTCTA ATTTTCTACCTTTAAGTCTACTGATTCTTTTTTCCACATACCTTTTGTTT TATGTATTTTGGAGCAAACACAGGGCGAGGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0134 a0001c0002t0004g0134	1	376	0.0027	-182	c.16 others(11): Show c.1693_*1874del		DCTD	ENSG00000129187.15	transcript	ENST00000438320.7	protein_coding				566		chr4	TogoVar
DNAH17_chr17_78418697_78582396	78509047	ACTTCTCC others(175): Show ACTTCTCCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAAGC GCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTTGTATTTTT AGCAAAGATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGA TCTTGTGATCCACCCACCTTGGCCTCCCCAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(130): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18959.hp2 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(90): Show a0002 a0003 a0005 a0009 a0010 a0011 a0013 a0015 a0018 a0020 a0021 a0023 a0025 a0026 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0076 a0077 a0078 a0079 a0082 a0083 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0102 a0108 a0109 a0110 a0111 a0114 a0117 a0121 a0122 a0123 a0124 a0125 a0126 a0127 a0130 a0132 a0135 a0137 a0138 a0139 a0140 a0144 a0147 a0150	a0002c0003 a0002c0038 a0002c0050 others(123): Show a0002c0003 a0002c0038 a0002c0050 a0002c0087 a0002c0089 a0002c0094 a0002c0161 a0002c0178 a0002c0179 a0002c0182 a0002c0230 a0003c0006 a0003c0014 a0003c0044 a0003c0083 a0003c0085 a0003c0099 a0003c0145 a0003c0189 a0005c0021 a0005c0053 a0005c0067 a0005c0119 a0005c0120 a0005c0186 a0005c0226 a0009c0140 a0009c0141 a0009c0142 a0009c0144 a0010c0090 a0010c0091 a0010c0212 a0010c0213 a0011c0007 a0011c0207 a0013c0012 a0015c0135 a0015c0136 a0018c0039 a0018c0102 a0020c0013 a0021c0033 a0021c0228 a0023c0016 a0025c0017 a0026c0019 a0028c0200 a0029c0201 a0030c0162 a0031c0163 a0032c0041 a0033c0074 a0034c0073 a0035c0104 a0036c0203 a0037c0204 a0038c0218 a0039c0121 a0040c0187 a0041c0122 a0042c0123 a0043c0118 a0044c0037 a0045c0220 a0046c0116 a0047c0219 a0048c0117 a0049c0217 a0050c0170 a0051c0158 a0066c0137 a0067c0056 a0068c0055 a0069c0057 a0070c0108 a0071c0216 a0072c0215 a0073c0107 a0074c0106 a0076c0221 a0077c0143 a0078c0139 a0079c0173 a0082c0174 a0083c0078 a0086c0045 a0087c0229 a0088c0096 a0089c0086 a0090c0095 a0091c0214 a0092c0092 a0093c0181 a0094c0093 a0095c0088 a0096c0180 a0097c0098 a0098c0097 a0099c0177 a0100c0084 a0101c0211 a0102c0209 a0108c0183 a0109c0047 a0110c0185 a0111c0164 a0114c0146 a0117c0156 a0121c0148 a0122c0198 a0123c0155 a0124c0154 a0125c0153 a0126c0152 a0127c0035 a0130c0160 a0132c0224 a0135c0194 a0137c0197 a0138c0195 a0139c0196 a0140c0225 a0144c0030 a0147c0024 a0150c0231	a0002c0003t0001 a0002c0038t0001 a0002c0050t0002 others(123): Show a0002c0003t0001 a0002c0038t0001 a0002c0050t0002 a0002c0087t0001 a0002c0089t0001 a0002c0094t0001 a0002c0161t0003 a0002c0178t0001 a0002c0179t0001 a0002c0182t0001 a0002c0230t0001 a0003c0006t0001 a0003c0014t0001 a0003c0044t0001 a0003c0083t0001 a0003c0085t0001 a0003c0099t0002 a0003c0145t0002 a0003c0189t0001 a0005c0021t0001 a0005c0053t0001 a0005c0067t0001 a0005c0119t0001 a0005c0120t0001 a0005c0186t0001 a0005c0226t0002 a0009c0140t0001 a0009c0141t0001 a0009c0142t0001 a0009c0144t0001 a0010c0090t0001 a0010c0091t0005 a0010c0212t0001 a0010c0213t0001 a0011c0007t0002 a0011c0207t0001 a0013c0012t0002 a0015c0135t0001 a0015c0136t0001 a0018c0039t0001 a0018c0102t0001 a0020c0013t0001 a0021c0033t0001 a0021c0228t0001 a0023c0016t0001 a0025c0017t0001 a0026c0019t0001 a0028c0200t0001 a0029c0201t0001 a0030c0162t0002 a0031c0163t0001 a0032c0041t0001 a0033c0074t0001 a0034c0073t0001 a0035c0104t0001 a0036c0203t0001 a0037c0204t0002 a0038c0218t0001 a0039c0121t0001 a0040c0187t0002 a0041c0122t0001 a0042c0123t0001 a0043c0118t0001 a0044c0037t0002 a0045c0220t0001 a0046c0116t0001 a0047c0219t0001 a0048c0117t0001 a0049c0217t0001 a0050c0170t0001 a0051c0158t0001 a0066c0137t0002 a0067c0056t0001 a0068c0055t0001 a0069c0057t0001 a0070c0108t0001 a0071c0216t0001 a0072c0215t0001 a0073c0107t0001 a0074c0106t0001 a0076c0221t0001 a0077c0143t0001 a0078c0139t0001 a0079c0173t0001 a0082c0174t0002 a0083c0078t0001 a0086c0045t0001 a0087c0229t0002 a0088c0096t0001 a0089c0086t0001 a0090c0095t0001 a0091c0214t0001 a0092c0092t0001 a0093c0181t0001 a0094c0093t0001 a0095c0088t0002 a0096c0180t0001 a0097c0098t0001 a0098c0097t0001 a0099c0177t0001 a0100c0084t0001 a0101c0211t0001 a0102c0209t0001 a0108c0183t0002 a0109c0047t0001 a0110c0185t0001 a0111c0164t0003 a0114c0146t0001 a0117c0156t0002 a0121c0148t0001 a0122c0198t0001 a0123c0155t0002 a0124c0154t0001 a0125c0153t0001 a0126c0152t0001 a0127c0035t0001 a0130c0160t0002 a0132c0224t0001 a0135c0194t0007 a0137c0197t0001 a0138c0195t0001 a0139c0196t0001 a0140c0225t0001 a0144c0030t0001 a0147c0024t0001 a0150c0231t0001	a0002c0003t0001g0044 a0002c0003t0001g0174 a0002c0003t0001g0221 others(130): Show a0002c0003t0001g0044 a0002c0003t0001g0174 a0002c0003t0001g0221 a0002c0038t0001g0213 a0002c0050t0002g0004 a0002c0087t0001g0017 a0002c0089t0001g0037 a0002c0094t0001g0173 a0002c0161t0003g0246 a0002c0178t0001g0150 a0002c0179t0001g0151 a0002c0182t0001g0243 a0002c0230t0001g0187 a0003c0006t0001g0148 a0003c0006t0001g0149 a0003c0014t0001g0014 a0003c0014t0001g0015 a0003c0044t0001g0106 a0003c0083t0001g0152 a0003c0085t0001g0022 a0003c0099t0002g0133 a0003c0145t0002g0066 a0003c0189t0001g0199 a0005c0021t0001g0080 a0005c0053t0001g0176 a0005c0067t0001g0042 a0005c0119t0001g0020 a0005c0120t0001g0231 a0005c0186t0001g0086 a0005c0226t0002g0079 a0009c0140t0001g0071 a0009c0141t0001g0166 a0009c0142t0001g0035 a0009c0144t0001g0093 a0010c0090t0001g0039 a0010c0091t0005g0003 a0010c0212t0001g0025 a0010c0213t0001g0138 a0011c0007t0002g0045 a0011c0007t0002g0130 a0011c0207t0001g0117 a0013c0012t0002g0222 a0013c0012t0002g0223 a0015c0135t0001g0180 a0015c0136t0001g0191 a0018c0039t0001g0212 a0018c0102t0001g0196 a0020c0013t0001g0167 a0020c0013t0001g0184 a0021c0033t0001g0195 a0021c0228t0001g0016 a0023c0016t0001g0010 a0025c0017t0001g0078 a0026c0019t0001g0127 a0028c0200t0001g0046 a0029c0201t0001g0140 a0030c0162t0002g0033 a0031c0163t0001g0156 a0032c0041t0001g0009 a0033c0074t0001g0005 a0034c0073t0001g0074 a0035c0104t0001g0183 a0036c0203t0001g0146 a0037c0204t0002g0147 a0038c0218t0001g0123 a0039c0121t0001g0036 a0040c0187t0002g0168 a0041c0122t0001g0227 a0042c0123t0001g0224 a0043c0118t0001g0063 a0044c0037t0002g0101 a0045c0220t0001g0126 a0046c0116t0001g0075 a0047c0219t0001g0122 a0048c0117t0001g0034 a0049c0217t0001g0237 a0050c0170t0001g0206 a0051c0158t0001g0097 a0066c0137t0002g0085 a0067c0056t0001g0070 a0068c0055t0001g0007 a0069c0057t0001g0164 a0070c0108t0001g0076 a0071c0216t0001g0124 a0072c0215t0001g0100 a0073c0107t0001g0143 a0074c0106t0001g0103 a0076c0221t0001g0139 a0077c0143t0001g0232 a0078c0139t0001g0160 a0079c0173t0001g0244 a0082c0174t0002g0153 a0083c0078t0001g0067 a0086c0045t0001g0109 a0087c0229t0002g0008 a0088c0096t0001g0043 a0089c0086t0001g0238 a0090c0095t0001g0084 a0091c0214t0001g0137 a0092c0092t0001g0134 a0093c0181t0001g0234 a0094c0093t0001g0089 a0095c0088t0002g0099 a0096c0180t0001g0230 a0097c0098t0001g0104 a0098c0097t0001g0105 a0099c0177t0001g0245 a0100c0084t0001g0177 a0101c0211t0001g0135 a0102c0209t0001g0125 a0108c0183t0002g0092 a0109c0047t0001g0091 a0110c0185t0001g0157 a0111c0164t0003g0247 a0114c0146t0001g0131 a0117c0156t0002g0161 a0121c0148t0001g0096 a0122c0198t0001g0235 a0123c0155t0002g0029 a0124c0154t0001g0087 a0125c0153t0001g0032 a0126c0152t0001g0030 a0127c0035t0001g0040 a0130c0160t0002g0115 a0132c0224t0001g0120 a0135c0194t0007g0107 a0137c0197t0001g0110 a0138c0195t0001g0242 a0139c0196t0001g0129 a0140c0225t0001g0006 a0144c0030t0001g0051 a0147c0024t0001g0186 a0150c0231t0001g0136	133	252	0.5278	-182	c.423 others(19): Show c.4236+1155_4237-1243del		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	27/80					chr17	TogoVar
DPEP1_chr16_89608642_89643433	89619063	CCCCCCCT others(175): Show CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC CTGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG02896.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0159 a0002c0002t0001g0160	2	250	0.0080	-182	c.-10 others(19): Show c.-107+5351_-107+5532del		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10				INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137565600	ACTCTGTC others(175): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	340	0.0029	-182	c.641 others(15): Show c.641-628_641-447del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137566422	ACTCTGTC others(175): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03209.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0002 a0002c0002t0001 a0001c0009t0002 a0002c0002t0001	a0001c0009t0002g0308 a0002c0002t0001g0234 a0001c0009t0002g0308 a0002c0002t0001g0234	2	340	0.0059	-182	c.641 others(17): Show c.641-1450_641-1269del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137566542	ACTCTGTC others(175): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	340	0.0029	-182	c.641 others(17): Show c.641-1570_641-1389del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137567664	ACTCTGTC others(175): Show ACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01496.hp2 HG00642.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0203 a0001c0001t0001g0122 a0001c0001t0001g0203	2	340	0.0059	-182	c.641 others(17): Show c.641-2692_641-2511del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137567694	ACTCTGTC others(175): Show ACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	340	0.0029	-182	c.641 others(17): Show c.641-2722_641-2541del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137567814	ACTCTGTC others(175): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	340	0.0029	-182	c.641 others(17): Show c.641-2842_641-2661del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137441019	CCCCCCCA others(175): Show CCCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCAGACCAG GACAGCCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACACCCCCTCAG ACAGAACAGTCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGCCCC CCAGACCAGGACAGCCCCCCCAGACCAGGACAG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02451.hp2 HG03453.hp1 others(1): Show HG01952.hp1 HG02451.hp2 HG03453.hp1 NA19030.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0001 a0007c0014t0010 a0001c0001t0001 a0007c0014t0010	a0001c0001t0001g0023 a0001c0001t0001g0138 a0001c0001t0001g0140 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0138 a0001c0001t0001g0140 a0007c0014t0010g0148	4	392	0.0102	-182	c.-21 others(14): Show c.-21+85_-21+266del		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9					chr9	TogoVar
FIGN_chr2_163597611_163741008	163660705	ATACACAT others(175): Show ATACACATATACATATATATGTATACACATATACATATATATGTATACAC ATATACATATATATGTATACACATATACATATATATGTATATAGATATAC ATATATATACATATACATATATATGTATACATATATACATATATATATGT ATACATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18993.hp1 NA18983.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0035 a0001c0008t0035 a0001c0001t0035 a0001c0008t0035	a0001c0001t0035g0246 a0001c0008t0035g0248 a0001c0001t0035g0246 a0001c0008t0035g0248	2	266	0.0075	-182	c.26- others(17): Show c.26-49081_26-48900del		FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2					chr2	TogoVar
FOXN3_chr14_89151177_89422233	89360753	ACCACCTC others(175): Show ACCACCTCCACCACTACCACCTCCACCACCACCTCCACCACCACCACCTC CAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCT CCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACC TCCACCACCACCACCTCCAGCACCACCTCCACC	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	230	0.0044	-182	c.544 others(18): Show c.544-10127_544-9946del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5					chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805864	TCCCCCCT others(175): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	314	0.0032	-182	c.16 others(11): Show c.1699_*1880del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1578		chr2	TogoVar
GATA5_chr20_62458497_62480995	62476879	TTCTTTTT others(175): Show TTCTTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGA GCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTT CTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG02886.hp2 others(2): Show HG02486.hp1 HG02630.hp1 HG02886.hp2 HG02922.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0010 a0001c0003 a0004c0010	a0001c0003t0001 a0004c0010t0001 a0001c0003t0001 a0004c0010t0001	a0001c0003t0001g0188 a0004c0010t0001g0018 a0004c0010t0001g0019 a0001c0003t0001g0188 a0004c0010t0001g0018 a0004c0010t0001g0019	5	382	0.0131	-182	c.-11 others(10): Show c.-1153_-972del		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding				885		chr20	TogoVar
GEMIN4_chr17_739421_757264	753052	TTGGAGCG others(175): Show TTGGAGCGCGAAAAAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACG CGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGC GAACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAG TGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01123.hp2 HG01192.hp2 others(19): Show HG00733.hp2 HG01123.hp2 HG01192.hp2 HG01891.hp2 HG02135.hp2 HG02572.hp1 HG02615.hp1 HG02965.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp1 NA18747.hp2 NA18943.hp1 NA18955.hp1 NA18960.hp2 NA18984.hp1 NA18989.hp2 NA18994.hp1 NA18997.hp1 NA19010.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0012 a0021	a0001c0001 a0002c0004 a0004c0003 others(4): Show a0001c0001 a0002c0004 a0004c0003 a0006c0008 a0006c0013 a0012c0014 a0021c0025	a0001c0001t0001 a0002c0004t0001 a0004c0003t0004 others(4): Show a0001c0001t0001 a0002c0004t0001 a0004c0003t0004 a0006c0008t0001 a0006c0013t0001 a0012c0014t0005 a0021c0025t0001	a0001c0001t0001g0023 a0001c0001t0001g0065 a0001c0001t0001g0066 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0065 a0001c0001t0001g0066 a0002c0004t0001g0004 a0004c0003t0004g0089 a0006c0008t0001g0010 a0006c0013t0001g0016 a0012c0014t0005g0026 a0021c0025t0001g0088	22	434	0.0507	-182	c.-10 others(10): Show c.-1092_-911del		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding				789		chr17	TogoVar
GEMIN4_chr17_739421_757264	753166	GCAAGATG others(175): Show GCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACG AAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGG ACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAA GTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01069.hp2 others(29): Show HG00280.hp1 HG00323.hp2 HG01069.hp2 HG01099.hp2 HG01168.hp2 HG01496.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02970.hp1 HG03453.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG06807.hp1 NA18945.hp2 NA18952.hp1 NA18956.hp2 NA18965.hp1 NA18967.hp2 NA18978.hp1 NA18987.hp1 NA19006.hp2 NA19062.hp1 NA19070.hp1 NA19089.hp1	a0001 a0002 a0020 others(3): Show a0001 a0002 a0020 a0034 a0035 a0036	a0001c0001 a0001c0038 a0002c0006 others(4): Show a0001c0001 a0001c0038 a0002c0006 a0020c0024 a0034c0026 a0035c0045 a0036c0047	a0001c0001t0001 a0001c0001t0007 a0001c0038t0001 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0038t0001 a0002c0006t0001 a0020c0024t0001 a0034c0026t0001 a0035c0045t0001 a0036c0047t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0090 a0001c0001t0007g0030 a0001c0038t0001g0091 a0002c0006t0001g0041 a0020c0024t0001g0068 a0034c0026t0001g0072 a0035c0045t0001g0069 a0036c0047t0001g0102	32	434	0.0737	-182	c.-12 others(11): Show c.-1206_-1025del		GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding				903		chr17	TogoVar
GRK4_chr4_2958571_3045760	3016482	TACTCCAG others(175): Show TACTCCAGCCTGTGTACTCCAGCCTGGGTGACAGAGTGAGACTCAATCTC CAAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGTGTGTGACTGTAG TCCCAGCTACTCAGAAGGCTGTGGTGGGAGGATTGCTTGAACCCAGGTGG TCAGGGCTGCAGTGAGCCATTATTGCCCACTGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG02717.hp2 others(7): Show HG02145.hp1 HG02615.hp2 HG02717.hp2 HG03139.hp1 HG03453.hp2 HG06807.hp2 NA19043.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0004 a0008 a0018 a0004 a0008 a0018	a0004c0005 a0004c0009 a0008c0008 others(1): Show a0004c0005 a0004c0009 a0008c0008 a0018c0019	a0004c0005t0002 a0004c0009t0001 a0004c0009t0003 others(2): Show a0004c0005t0002 a0004c0009t0001 a0004c0009t0003 a0008c0008t0004 a0018c0019t0001	a0004c0005t0002g0044 a0004c0009t0001g0049 a0004c0009t0001g0050 others(7): Show a0004c0005t0002g0044 a0004c0009t0001g0049 a0004c0009t0001g0050 a0004c0009t0003g0145 a0004c0009t0003g0151 a0008c0008t0004g0008 a0008c0008t0004g0009 a0008c0008t0004g0010 a0008c0008t0004g0011 a0018c0019t0001g0057	10	268	0.0373	-182	c.741 others(17): Show c.741+2666_741+2847del		GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding	8/15				INFO_REALIGN_3_PRIME	chr4	TogoVar
IGLON5_chr19_51306644_51335891	51311053	TCTGAGGG others(175): Show TCTGAGGGAGGAGGGGCTGGGGGCCTGGGCTCCAGGGTCTGAGGGAGGAG GGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGGCTCCAGGGTCTGAGAGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA18994.hp2 HG03834.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0041 a0001c0001t0005 a0001c0001t0041	a0001c0001t0005g0001 a0001c0001t0041g0003 a0001c0001t0005g0001 a0001c0001t0041g0003	2	418	0.0048	-182	c.-79 others(9): Show c.-794_-613del		IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding				590		chr19	TogoVar
KCNMB2_chr3_178531436_178849429	178759910	ATATATAT others(175): Show ATATATATATATCCAAGAGGATATATCTATATATATATATATCCAAGAGG ATATATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATCTATATATATATATATATATATCCAAGAGGATATAT CTATATATATATATATAGCCAAGAGGATATATC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	232	0.0043	-182	c.-67 others(19): Show c.-67-47421_-67-47240del		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0232_chr4_6777727_6889164	6880011	CGCCTCAC others(175): Show CGCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAG GTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTC CCAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACTGTGTCACTGC AAACTCCCTTCCCAACACAGAGGTCTGCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0310 a0001c0001t0031g0310	1	362	0.0028	-182	c.400 others(17): Show c.4009-775_4009-594del		KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9					chr4	TogoVar
KIF1B_chr1_10205570_10386603	10352016	TTCAGAAG others(175): Show TTCAGAAGTTGCTGTTAGGTGAGAGTGGAATGGATTGGAACGGGGAGGTG TGAATAGCAGGTCAGAAGTTGCTGTTAGGTGAGAGTGGAATGGATTGGAA CAGGGGAGGTGTGAATAGCAGGTCAGAAGTTGCTGTTAGGTGAGAGTGGA ATGGATTGGAACGGGGGAGGTGTGAATAGCAGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02723.hp1 others(2): Show HG02451.hp1 HG02559.hp1 HG02723.hp1 NA18906.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0015 a0001c0002 a0001c0005 a0001c0015	a0001c0002t0009 a0001c0005t0014 a0001c0015t0030 a0001c0002t0009 a0001c0005t0014 a0001c0015t0030	a0001c0002t0009g0249 a0001c0005t0014g0122 a0001c0005t0014g0127 others(2): Show a0001c0002t0009g0249 a0001c0005t0014g0122 a0001c0005t0014g0127 a0001c0005t0014g0169 a0001c0015t0030g0128	5	300	0.0167	-182	c.395 others(17): Show c.3950-514_3950-333del		KIF1B	ENSG00000054523.20	transcript	ENST00000676179.1	protein_coding	37/48				INFO_REALIGN_3_PRIME	chr1	TogoVar
KLK14_chr19_51072897_51087887	51077746	GGGGCCTG others(175): Show GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTC CCGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT	G G	splice_region_variant splice_region_variant	LOW	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0046 a0002c0002t0006g0046	1	444	0.0023	-182	c.79 others(8): Show c.79_*260del		KLK14	ENSG00000129437.11	transcript	ENST00000650543.2	protein_coding	6/6					chr19	TogoVar
KLK7_chr19_50971468_50988917	50982888	ACCCCTCC others(175): Show ACCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCGCCTCCCT CAGACCTAGGAGTCCAGGCCCCCAGCTCCTCCTCCCTCAGACCTAGGAGT CCAGGTCCAAGTCCCTCCTCCCTCAGGCTCAGGAGTCCAGGCCCCAACCC CTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	384	0.0026	-182	c.-58 others(15): Show c.-58-613_-58-432del		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5					chr19	TogoVar
KNDC1_chr10_133155219_133231412	133223501	GTGCATGT others(175): Show GTGCATGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGT GCGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGT GTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTCTGTGTGTGT GTGAGAGCCCATCCAGGCATGCTCTTCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02622.hp2 HG02965.hp1 HG01123.hp2 HG02622.hp2 HG02965.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0006 a0003c0016t0006	a0003c0016t0006g0117 a0003c0016t0006g0118 a0003c0016t0006g0225 a0003c0016t0006g0117 a0003c0016t0006g0118 a0003c0016t0006g0225	3	332	0.0090	-182	c.501 others(18): Show c.5019-1155_5019-974del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29				INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)