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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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
ADPRHL1_chr13_113394611_113458488	113413063	A A	AACTCGGT others(29): Show AACTCGGTTCACCCACCGCCAACAGCGCCCCACGGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 HG03098.hp1 NA19240.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0006c0007 a0004c0005 a0006c0007	a0004c0005t0103 a0006c0007t0013 a0004c0005t0103 a0006c0007t0013	a0004c0005t0103g0253 a0006c0007t0013g0056 a0004c0005t0103g0253 a0006c0007t0013g0056	2	262	0.0076	36	c.106 others(55): Show c.1062-4844_1062-4843insCTCCGTGGGGCGCTGTTGGCGGTGGG TGAACCGAGT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113413063	A A	AGCTCGGT others(29): Show AGCTCGGTTCACCCACCGCCAACAGCGCCCCACGGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0030 a0030	a0030c0036 a0030c0036	a0030c0036t0092 a0030c0036t0092	a0030c0036t0092g0163 a0030c0036t0092g0163	1	262	0.0038	36	c.106 others(55): Show c.1062-4844_1062-4843insCTCCGTGGGGCGCTGTTGGCGGTGGG TGAACCGAGC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADRA1B_chr5_159911482_159978012	159963288	G G	GTATATAT others(29): Show GTATATATATATATATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	384	0.0026	36	c.950 others(53): Show c.950-8576_950-8575insGTATATATATATATATATATATATATAT ATATATAT	ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADSS1_chr14_104719229_104752310	104720512	T T	TCCTCGTG others(29): Show TCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01123.hp1 others(8): Show HG00621.hp2 HG00735.hp2 HG01123.hp1 HG01257.hp2 HG02602.hp2 HG03688.hp2 HG04184.hp2 NA18944.hp2 NA18967.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0060 others(8): Show a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0100 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0139 a0001c0002t0001g0179 a0001c0002t0001g0246	11	402	0.0274	36	c.-37 others(47): Show c.-3759_-3758insCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCG TC	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3716		chr14	TogoVar
ADSS1_chr14_104719229_104752310	104720719	T T	TCCTCGTG others(29): Show TCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG02451.hp1 others(7): Show HG00735.hp1 HG01243.hp2 HG02451.hp1 HG03209.hp2 HG03540.hp2 NA18970.hp1 NA18974.hp1 NA18978.hp1 NA18983.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0008	a0001c0001t0001g0024 a0001c0001t0001g0142 a0001c0001t0001g0143 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0002g0051 a0001c0002t0001g0229 a0001c0003t0008g0255	10	402	0.0249	36	c.-35 others(47): Show c.-3552_-3551insCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCG TC	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3509		chr14	TogoVar
ADSS1_chr14_104719229_104752310	104721065	T T	TCCTCCTG others(29): Show TCCTCCTGTGGATGCTGCTGTGGACGTCTGCGTCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG02451.hp1 others(7): Show HG00735.hp1 HG01243.hp2 HG02451.hp1 HG03209.hp2 HG03540.hp2 NA18970.hp1 NA18974.hp1 NA18978.hp1 NA19060.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0008	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0142 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0002g0051 a0001c0002t0001g0229 a0001c0003t0008g0255	10	402	0.0249	36	c.-32 others(47): Show c.-3206_-3205insCCTCCTGTGGATGCTGCTGTGGACGTCTGCGTCG TC	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3163		chr14	TogoVar
ADSS2_chr1_244403494_244456909	244444514	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01358.hp2 HG01070.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0293 a0001c0001t0001g0294	2	408	0.0049	36	c.184 others(53): Show c.184-6747_184-6746insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	1/12			chr1	TogoVar
AEBP2_chr12_19434492_19527227	19524028	T T	TCCTCCAT others(29): Show TCCTCCATCTCTCCCTCCCTCCATCTCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02572.hp2 NA19240.hp1 HG02055.hp1 HG02572.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0042 a0001c0001t0017g0043 a0001c0001t0017g0044 a0001c0001t0017g0042 a0001c0001t0017g0043 a0001c0001t0017g0044	3	404	0.0074	36	c.59 others(47): Show c.5911_*5912insCCTCCATCTCTCCCTCCCTCCATCTCTCCCTCCC TC	AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding		1802		chr12	TogoVar
AFAP1L2_chr10_114289824_114409502	114305184	C C	CGCAGATG others(29): Show CGCAGATGAAGGAGGGGGCGGGGCTGCGGGAGGGCAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0196 a0001c0004t0001g0196	1	262	0.0038	36	c.107 others(53): Show c.1073-290_1073-255dupATGCCCTCCCGCAGCCCCGCCCCCTCCT TCATCTGC	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	10/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114306328	C C	CGGGGGCA others(29): Show CGGGGGCAGGAGGGGACGCGGGGGCAGGAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02257.hp2 others(5): Show HG01109.hp2 HG01884.hp2 HG02257.hp2 HG02451.hp1 HG03130.hp2 HG03139.hp1 NA19043.hp1 NA19240.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0007 a0003c0026 a0002c0005 a0003c0007 a0003c0026	a0002c0005t0003 a0002c0005t0005 a0003c0007t0006 others(1): Show a0002c0005t0003 a0002c0005t0005 a0003c0007t0006 a0003c0026t0015	a0002c0005t0003g0194 a0002c0005t0005g0239 a0003c0007t0006g0025 others(5): Show a0002c0005t0003g0194 a0002c0005t0005g0239 a0003c0007t0006g0025 a0003c0007t0006g0110 a0003c0007t0006g0151 a0003c0007t0006g0193 a0003c0007t0006g0251 a0003c0026t0015g0157	8	262	0.0305	36	c.107 others(55): Show c.1073-1399_1073-1398insACCTCCCCTCCTGCCCCCGCGTCCCC TCCTGCCCCC	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	10/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02083.hp2 HG02622.hp1 others(4): Show HG02027.hp2 HG02083.hp2 HG02622.hp1 HG04228.hp1 NA18747.hp2 NA18979.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0016 a0001c0003t0003 a0001c0001t0001 a0001c0001t0016 a0001c0003t0003	a0001c0001t0001g0108 a0001c0001t0001g0141 a0001c0001t0001g0143 others(4): Show a0001c0001t0001g0108 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0001t0001g0180 a0001c0001t0016g0135 a0001c0003t0003g0103	7	262	0.0267	36	c.316 others(53): Show c.316-3887_316-3886insTATATATATATATATATATATATATATA TATATATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTATATAT others(29): Show TTATATATATATATATATATATATTTATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03942.hp1 HG01070.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0001g0172 a0001c0001t0001g0191	2	262	0.0076	36	c.316 others(53): Show c.316-3887_316-3886insTATATATATATAAATATATATATATATA TATATATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AFAP1_chr4_7753714_7944861	7848099	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0309 a0001c0004t0007g0309	1	318	0.0031	36	c.335 others(53): Show c.335-4750_335-4749insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	4/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7918679	G G	GAGACGCT others(29): Show GAGACGCTCGGCCCAGGTCACCAGGAAACAGGGCTGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02148.hp1 NA18982.hp2 HG01192.hp2 HG02148.hp1 NA18982.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0016 a0007c0029 a0001c0001 a0001c0016 a0007c0029	a0001c0001t0045 a0001c0016t0002 a0007c0029t0002 a0001c0001t0045 a0001c0016t0002 a0007c0029t0002	a0001c0001t0045g0030 a0001c0016t0002g0031 a0007c0029t0002g0032 a0001c0001t0045g0030 a0001c0016t0002g0031 a0007c0029t0002g0032	3	318	0.0094	36	c.-3+ others(53): Show c.-3+20976_-3+20977insGCAGCCCTGTTTCCTGGTGACCTGGGCC GAGCGTCT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17			chr4	TogoVar
AFF2_chrX_148495617_149005663	148581025	G G	GTGTATAT others(29): Show GTGTATATATACACACATATATACACATATGTGTATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02280.hp2 others(5): Show HG01109.hp1 HG02257.hp2 HG02280.hp2 HG02886.hp1 HG03209.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0010 a0001c0001t0066 a0001c0001t0077 others(5): Show a0001c0001t0010 a0001c0001t0066 a0001c0001t0077 a0001c0002t0091 a0001c0002t0102 a0001c0002t0111 a0001c0003t0079 a0001c0005t0023	a0001c0001t0010g0124 a0001c0001t0066g0015 a0001c0001t0077g0095 others(5): Show a0001c0001t0010g0124 a0001c0001t0066g0015 a0001c0001t0077g0095 a0001c0002t0091g0136 a0001c0002t0102g0094 a0001c0002t0111g0096 a0001c0003t0079g0161 a0001c0005t0023g0129	8	169	0.0473	36	c.48- others(53): Show c.48-70949_48-70914dupCATATGTGTATATGTATATATACACACA TATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(29): Show TACGTATACGTATACACACATATACGTATACGTATAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01074.hp1 others(25): Show HG00639.hp2 HG00642.hp1 HG01074.hp1 HG01167.hp1 HG01256.hp1 HG01261.hp1 HG01928.hp1 HG02040.hp1 HG02132.hp1 HG02602.hp1 HG03490.hp1 HG03688.hp1 NA18944.hp1 NA18952.hp1 NA18959.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18988.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19056.hp1 NA19068.hp1 NA19086.hp1 NA19091.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0008 a0004c0006 a0001c0001 a0003c0008 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0001t0036 a0001c0001t0041 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0070 a0001c0001t0090 a0001c0001t0100 a0001c0001t0121 a0001c0001t0123 a0003c0008t0045 a0004c0006t0012	a0001c0001t0002g0020 a0001c0001t0002g0166 a0001c0001t0003g0063 others(25): Show a0001c0001t0002g0020 a0001c0001t0002g0166 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0004g0041 a0001c0001t0007g0038 a0001c0001t0007g0048 a0001c0001t0009g0143 a0001c0001t0013g0034 a0001c0001t0017g0040 a0001c0001t0024g0091 a0001c0001t0036g0139 a0001c0001t0041g0071 a0001c0001t0048g0013 a0001c0001t0049g0105 a0001c0001t0050g0026 a0001c0001t0056g0023 a0001c0001t0058g0097 a0001c0001t0060g0067 a0001c0001t0061g0098 a0001c0001t0070g0044 a0001c0001t0090g0099 a0001c0001t0100g0140 a0001c0001t0121g0046 a0001c0001t0123g0090 a0003c0008t0045g0010 a0004c0006t0012g0011	28	169	0.1657	36	c.48- others(53): Show c.48-70722_48-70721insGTATACGTATACACACATATACGTATAC GTATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(29): Show TACGTATACGTATACACACATATACGTATACGTGTAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0079 a0001c0001t0114g0079	1	169	0.0059	36	c.48- others(53): Show c.48-70722_48-70721insGTATACGTATACACACATATACGTATAC GTGTACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581390	A A	ATACACAT others(29): Show ATACACATATATACGTATACGTGTACACACATATACG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp1 HG02451.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0078 a0001c0002t0101 a0001c0002t0078 a0001c0002t0101	a0001c0002t0078g0152 a0001c0002t0101g0160 a0001c0002t0078g0152 a0001c0002t0101g0160	2	169	0.0118	36	c.48- others(53): Show c.48-70607_48-70606insCACATATATACGTATACGTGTACACACA TATACGTA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	99626427	T T	TCCTCCCT others(29): Show TCCTCCCTCCCTCTCCTTCCCTTCCCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp2 HG03195.hp1 HG02809.hp2 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0004 a0001c0004t0014 a0001c0005t0005 a0001c0004t0004 a0001c0004t0014 a0001c0005t0005	a0001c0004t0004g0097 a0001c0004t0014g0004 a0001c0005t0005g0092 a0001c0004t0004g0097 a0001c0004t0014g0004 a0001c0005t0005g0092	3	100	0.0300	36	c.118 others(57): Show c.1184+23198_1184+23199insGAGGAAGGAAGGGGAAGGGAAGGA GAGGGAGGGAGG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	99648917	A A	ACACACAC others(29): Show ACACACACACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0088 a0001c0001t0011g0088	1	100	0.0100	36	c.118 others(53): Show c.1184+708_1184+709insAGAGAGAGAGAGAGAGTGTGTGTGTGTG TGTGTGTG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AFF3_chr2_99540419_100147590	99648917	A A	ACACACAC others(29): Show ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	100	0.0100	36	c.118 others(53): Show c.1184+708_1184+709insAGAGAGAGAGAGAGAGAGAGAGAGTGTG TGTGTGTG	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24			chr2	TogoVar
AGAP1_chr2_235489043_236136793	236025908	G G	GTGGGTGG others(29): Show GTGGGTGGGTGGGTGGGTGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0007 a0001c0016t0007	a0001c0016t0007g0089 a0001c0016t0007g0089	1	98	0.0102	36	c.164 others(57): Show c.1646-10650_1646-10649insGTGGGTGGGTGGGTGGATGGATGG ATGGATGGATGG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86262078	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0042 a0001c0012t0042	a0001c0012t0042g0063 a0001c0012t0042g0063	1	132	0.0076	36	c.970 others(51): Show c.970-684_970-683insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	132	0.0076	36	c.222 others(55): Show c.2220+6966_2220+6967insTATATATATATATATATATATATATA TATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG02976.hp2 others(2): Show HG01192.hp2 HG01346.hp1 HG02976.hp2 HG03098.hp2 HG03239.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0013	a0001c0001 a0001c0004 a0003c0036 others(2): Show a0001c0001 a0001c0004 a0003c0036 a0008c0030 a0013c0045	a0001c0001t0011 a0001c0004t0001 a0003c0036t0005 others(2): Show a0001c0001t0011 a0001c0004t0001 a0003c0036t0005 a0008c0030t0010 a0013c0045t0001	a0001c0001t0011g0094 a0001c0004t0001g0120 a0003c0036t0005g0081 others(2): Show a0001c0001t0011g0094 a0001c0004t0001g0120 a0003c0036t0005g0081 a0008c0030t0010g0002 a0013c0045t0001g0085	5	132	0.0379	36	c.222 others(55): Show c.2220+6953_2220+6954insGTATATATATATATATATATATATAT ATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp1 NA18522.hp1 HG02630.hp2 HG03540.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0010 a0003c0029 a0001c0002 a0001c0010 a0003c0029	a0001c0002t0001 a0001c0010t0015 a0003c0029t0018 a0001c0002t0001 a0001c0010t0015 a0003c0029t0018	a0001c0002t0001g0128 a0001c0010t0015g0009 a0003c0029t0018g0007 a0001c0002t0001g0128 a0001c0010t0015g0009 a0003c0029t0018g0007	3	132	0.0227	36	c.222 others(55): Show c.2220+6953_2220+6954insGTGTATATATATATATATATATATAT ATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86364978	T T	TATATATA others(29): Show TATATATACACACACACATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0095 a0004c0009t0003g0095	1	132	0.0076	36	c.237 others(57): Show c.2375-32381_2375-32380insCACACACACATATATATATATACA CACACATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86633848	G G	GTATATAT others(29): Show GTATATATATATATATAATGTATATATATATAATGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0039 a0005c0016t0039	a0005c0016t0039g0130 a0005c0016t0039g0130	1	132	0.0076	36	c.299 others(57): Show c.2995-40411_2995-40410insTAATGTATATATATATAATGTATA TATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86633848	G G	GTATGTAT others(29): Show GTATGTATATATATATAATGTATATATATATAATGTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20300.hp1 HG02965.hp1 NA20300.hp1	a0003 a0003	a0003c0026 a0003c0041 a0003c0026 a0003c0041	a0003c0026t0023 a0003c0041t0017 a0003c0026t0023 a0003c0041t0017	a0003c0026t0023g0050 a0003c0041t0017g0117 a0003c0026t0023g0050 a0003c0041t0017g0117	2	132	0.0152	36	c.299 others(57): Show c.2995-40422_2995-40421insGTATATATATATAATGTATATATA TATAATGTATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86735653	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0012 a0010c0017t0012	a0010c0017t0012g0090 a0010c0017t0012g0090	1	132	0.0076	36	c.315 others(57): Show c.3158+61218_3158+61219insTATATATATATATATATATATATA TATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86808602	C C	CTCCCCTT others(29): Show CTCCCCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0060 a0002c0005t0060	a0002c0005t0060g0015 a0002c0005t0060g0015	1	132	0.0076	36	c.315 others(57): Show c.3159-98484_3159-98483insCCCCTTTCCTTCCTTCCTTCTTTC CTTCCTTCCCTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18989.hp1 HG02083.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0082 a0002c0002t0002g0031 a0002c0002t0002g0082	2	356	0.0056	36	c.848 others(51): Show c.848+373_848+374insATATATATATATATATATTTTTTTTTTTTT TTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	356	0.0028	36	c.848 others(51): Show c.848+373_848+374insATATATATATATATATATATTTTTTTTTTT TTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	356	0.0028	36	c.848 others(51): Show c.848+373_848+374insATATATATATATATATATATATTTTTTTTT TTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	356	0.0028	36	c.848 others(51): Show c.848+373_848+374insATATATATATATATATATATATATTTTTTT TTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135096564	G G	GATAGATA others(29): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01975.hp1 NA18990.hp2 HG00099.hp1 HG01975.hp1 NA18990.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0003 a0009c0014t0003 a0001c0001t0003 a0009c0014t0003	a0001c0001t0003g0246 a0001c0001t0003g0247 a0009c0014t0003g0232 a0001c0001t0003g0246 a0001c0001t0003g0247 a0009c0014t0003g0232	3	320	0.0094	36	c.211 others(57): Show c.2110+14793_2110+14794insGATAGATAGATAGATACATAGATA GATAGATAGATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135096568	G G	GATAGATA others(29): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01175.hp1 others(10): Show HG01074.hp1 HG01081.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01884.hp1 HG04228.hp2 NA18944.hp2 NA18965.hp2 NA18972.hp2 NA18984.hp1 NA18994.hp1 NA19065.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0016 a0001c0001 a0002c0002 a0005c0016	a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0005c0016t0003	a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 others(10): Show a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0003g0204 a0001c0001t0003g0244 a0001c0001t0003g0273 a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0002t0002g0049 a0005c0016t0003g0215	13	320	0.0406	36	c.211 others(57): Show c.2110+14793_2110+14794insGATAGATAGATAGATAGATACATA GATAGATAGATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135096572	G G	GATAGATA others(29): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18964.hp1 NA18979.hp2 HG00621.hp2 NA18964.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0140 a0001c0001t0002g0188 a0001c0001t0003g0192 a0001c0001t0002g0140 a0001c0001t0002g0188 a0001c0001t0003g0192	3	320	0.0094	36	c.211 others(57): Show c.2110+14793_2110+14794insGATAGATAGATAGATAGATAGATA CATAGATAGATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGFG2_chr7_100534203_100573220	100551030	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	246	0.0041	36	c.431 others(51): Show c.431+550_431+551insGTATATATATATATATATATATATATATAT ATATAT	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGK_chr7_141546410_141660244	141602173	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	274	0.0037	36	c.297 others(51): Show c.297+897_297+932dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGMO_chr7_15195317_15567015	15198199	G G	GAGAGAGA others(29): Show GAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	236	0.0042	36	c.30 others(47): Show c.3085_*3086insGTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCT CT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding		2117		chr7	TogoVar
AGMO_chr7_15195317_15567015	15313489	A A	AGGATGGG others(29): Show AGGATGGGCAATTTTTACCAGCAGATGTGCTTATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0008 a0002c0004t0007g0008	1	236	0.0042	36	c.126 others(57): Show c.1263+51989_1263+52024dupAATATAAGCACATCTGCTGGTAAA AATTGCCCATCC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGPAT3_chr21_43860223_43992592	43917913	T T	TGTTGTAG others(29): Show TGTTGTAGGGGGTGTGGGTGTTGTGGGTGTTGTGGGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG02622.hp2 others(3): Show HG01167.hp2 HG01884.hp2 HG02622.hp2 HG03195.hp2 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0054 a0001c0001t0002 a0001c0001t0054	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0023 others(3): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0054g0022	6	342	0.0175	36	c.-49 others(55): Show c.-49+13917_-49+13952dupTGGGTGTTGTGGGGGTTGTAGGGGGT GTGGGTGTTG	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43961455	G G	GGTGAGCA others(29): Show GGTGAGCACGTAGACACTTTGTCTCATATGGAAAACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(136): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18952.hp2 NA18955.hp1 NA18968.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0051 a0001c0001t0054 a0001c0001t0060 a0001c0001t0062 a0001c0001t0068 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0002t0018 a0001c0002t0048 a0001c0009t0002	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0163 others(136): Show a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0200 a0001c0001t0001g0243 a0001c0001t0001g0269 a0001c0001t0001g0295 a0001c0001t0001g0334 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0078 a0001c0001t0002g0120 a0001c0001t0002g0149 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0002g0238 a0001c0001t0002g0246 a0001c0001t0002g0258 a0001c0001t0002g0267 a0001c0001t0002g0296 a0001c0001t0002g0307 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0003g0085 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0029 a0001c0001t0004g0038 a0001c0001t0004g0044 a0001c0001t0004g0079 a0001c0001t0004g0126 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0203 a0001c0001t0004g0240 a0001c0001t0004g0278 a0001c0001t0004g0281 a0001c0001t0004g0286 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0314 a0001c0001t0004g0317 a0001c0001t0004g0340 a0001c0001t0007g0192 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0329 a0001c0001t0008g0039 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0143 a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0001t0010g0110 a0001c0001t0011g0021 a0001c0001t0011g0166 a0001c0001t0011g0204 a0001c0001t0012g0070 a0001c0001t0015g0115 a0001c0001t0015g0116 a0001c0001t0015g0117 a0001c0001t0015g0118 a0001c0001t0016g0071 a0001c0001t0016g0072 a0001c0001t0016g0075 a0001c0001t0017g0098 a0001c0001t0018g0081 a0001c0001t0020g0064 a0001c0001t0020g0065 a0001c0001t0020g0066 a0001c0001t0022g0032 a0001c0001t0022g0051 a0001c0001t0022g0055 a0001c0001t0024g0106 a0001c0001t0024g0107 a0001c0001t0025g0087 a0001c0001t0025g0108 a0001c0001t0026g0059 a0001c0001t0026g0191 a0001c0001t0027g0067 a0001c0001t0029g0083 a0001c0001t0029g0144 a0001c0001t0031g0195 a0001c0001t0031g0196 a0001c0001t0033g0212 a0001c0001t0033g0213 a0001c0001t0034g0105 a0001c0001t0036g0094 a0001c0001t0037g0304 a0001c0001t0038g0109 a0001c0001t0039g0102 a0001c0001t0040g0007 a0001c0001t0042g0092 a0001c0001t0043g0103 a0001c0001t0047g0025 a0001c0001t0051g0207 a0001c0001t0054g0022 a0001c0001t0060g0302 a0001c0001t0062g0313 a0001c0001t0068g0013 a0001c0001t0070g0134 a0001c0001t0072g0209 a0001c0001t0073g0053 a0001c0001t0074g0211 a0001c0001t0075g0008 a0001c0001t0076g0279 a0001c0001t0077g0254 a0001c0001t0078g0316 a0001c0001t0080g0187 a0001c0002t0018g0114 a0001c0002t0048g0298 a0001c0009t0002g0186	139	342	0.4064	36	c.178 others(53): Show c.178+1601_178+1636dupGCACGTAGACACTTTGTCTCATATGGAA AACAGTGA	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPS_chr2_177387773_177548834	177396942	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19010.hp2 HG02165.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0246 a0001c0001t0011g0248 a0001c0001t0011g0246 a0001c0001t0011g0248	2	258	0.0078	36	c.260 others(53): Show c.260+3907_260+3908insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177450963	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02602.hp1 HG02698.hp2 others(2): Show HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03704.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0002t0048 a0001c0003t0001 a0001c0002t0004 a0001c0002t0048 a0001c0003t0001	a0001c0002t0004g0009 a0001c0002t0004g0011 a0001c0002t0004g0013 others(2): Show a0001c0002t0004g0009 a0001c0002t0004g0011 a0001c0002t0004g0013 a0001c0002t0048g0008 a0001c0003t0001g0255	5	258	0.0194	36	c.870 others(53): Show c.870+5349_870+5350insATATATATATATATATATATATATATAT ATATATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177450964	A A	ATATATAT others(29): Show ATATATATATATATATATACACATATATGTATATATG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0174 a0001c0001t0024g0174	1	258	0.0039	36	c.870 others(53): Show c.870+5349_870+5350insATATATACACATATATGTATATATGTAT ATATATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177450964	A A	ATATATAT others(29): Show ATATATATATATATATATATACATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp2 HG01169.hp1 others(1): Show HG00642.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0051 a0001c0001t0003 a0001c0001t0015 a0001c0001t0051	a0001c0001t0003g0234 a0001c0001t0015g0223 a0001c0001t0015g0224 others(1): Show a0001c0001t0003g0234 a0001c0001t0015g0223 a0001c0001t0015g0224 a0001c0001t0051g0228	4	258	0.0155	36	c.870 others(53): Show c.870+5349_870+5350insATATATATACATATATGTATATATGTAT ATATATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGRN_chr1_1015120_1061116	1030569	A A	ATGTGTGT others(29): Show ATGTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0057 a0004c0057	a0004c0057t0003 a0004c0057t0003	a0004c0057t0003g0046 a0004c0057t0003g0046	1	210	0.0048	36	c.464 others(53): Show c.464-4697_464-4662dupCAGTGCATGGTGCTGTGAGATCAGCGTG TGTGTGTG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp2 HG02486.hp1 others(5): Show HG01167.hp2 HG02055.hp2 HG02486.hp1 HG03516.hp1 NA18955.hp1 NA18962.hp2 NA18993.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0104 others(5): Show a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0002g0153 a0001c0001t0002g0185 a0001c0001t0002g0289 a0001c0001t0006g0128	8	292	0.0274	36	c.364 others(55): Show c.364-13993_364-13992insATATATATATATATATATATATATAT ATATATATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar

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