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
UGT1A8_chr2_233612633_233778300	233725264	G G	GGCAGAGG others(20): Show GGCAGAGGCAGAGGCAGAGGCAGAGGCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	290	0.0035	27	c.856 others(46): Show c.856-41769_856-41768insCAGAGGCAGAGGCAGAGGCAGAGGCA G	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725264	G G	GGCAGAGG others(20): Show GGCAGAGGCAGAGGCAGAGGCAGAGGCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	318	0.0031	27	c.856 others(46): Show c.856-41769_856-41768insCAGAGGCAGAGGCAGAGGCAGAGGCA G	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067822	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	410	0.0024	27	c.-10 others(38): Show c.-1034_-1033insTCTCTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		941		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	410	0.0024	27	c.-10 others(38): Show c.-1077_-1076insTCTCTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
UGT8_chr4_114593807_114683225	114597754	G G	GATATATA others(20): Show GATATATATATATATATATATGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(28): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00642.hp2 HG00733.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01361.hp1 HG01496.hp2 HG02155.hp1 HG02280.hp1 HG02559.hp1 HG02698.hp1 HG02698.hp2 HG03195.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18950.hp2 NA18954.hp2 NA18986.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp1 NA19064.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0010 a0001c0001 a0002c0002 a0006c0010	a0001c0001t0001 a0002c0002t0002 a0006c0010t0002 a0001c0001t0001 a0002c0002t0002 a0006c0010t0002	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0028 others(27): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0001g0102 a0002c0002t0002g0004 a0002c0002t0002g0010 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0153 a0002c0002t0002g0163 a0002c0002t0002g0177 a0002c0002t0002g0232 a0006c0010t0002g0023	31	280	0.1107	27	c.-12 others(38): Show c.-1223_-1222insATATATATATATATATATATGATATAT	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		1052		chr4	TogoVar
UGT8_chr4_114593807_114683225	114597768	T T	TATATATG others(20): Show TATATATGATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	280	0.0036	27	c.-12 others(38): Show c.-1209_-1208insATATATGATATATATATATATATATAA	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		1038		chr4	TogoVar
UHMK1_chr1_162492818_162534631	162506565	C C	CATTTTTG others(20): Show CATTTTTGTTTCCTTGAGTGTCCTATAT	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0163 a0001c0001t0045g0163	1	412	0.0024	27	c.848 others(44): Show c.848+2721_848+2747dupTTTGTTTCCTTGAGTGTCCTATATATT	UHMK1	ENSG00000152332.16	transcript	ENST00000489294.2	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
UHRF2_chr9_6408199_6512054	6445981	C C	CTTTGTTT others(20): Show CTTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	318	0.0031	27	c.644 others(46): Show c.644+11811_644+11812insGTTTTTTTTTTTTTTTTTTTTTTTTT T	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0004 a0009c0010t0002g0004	1	72	0.0139	27	c.322 others(48): Show c.3227-43515_3227-43514insATATATATATATATTTTTTTTTTT TTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATAAATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02451.hp1 HG02818.hp1 others(2): Show HG01169.hp1 HG02451.hp1 HG02818.hp1 HG02976.hp2 HG03209.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0004c0004 a0005c0013 others(1): Show a0001c0001 a0004c0004 a0005c0013 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0004c0004t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0004c0004t0002 a0005c0013t0002 a0006c0005t0001	a0001c0001t0001g0053 a0001c0001t0003g0069 a0004c0004t0002g0014 others(2): Show a0001c0001t0001g0053 a0001c0001t0003g0069 a0004c0004t0002g0014 a0005c0013t0002g0017 a0006c0005t0001g0064	5	72	0.0694	27	c.322 others(48): Show c.3227-43515_3227-43514insATATTTATATATATATTTTTTTTT TTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41901479	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG06807.hp2 HG02622.hp1 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052	3	72	0.0417	27	c.118 others(44): Show c.1183-651_1183-650insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	12/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7679071	C C	CATATATT others(20): Show CATATATTTATATATTTAGTTTATAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0158 a0001c0002t0063g0158	1	250	0.0040	27	c.82+ others(42): Show c.82+5644_82+5645insAATATATTTATATATTTAGTTTATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679134	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01496.hp2 HG02965.hp1 HG00140.hp2 HG01496.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0001 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0060 a0001c0001t0007g0232 a0001c0001t0014g0009 a0001c0001t0001g0060 a0001c0001t0007g0232 a0001c0001t0014g0009	3	250	0.0120	27	c.82+ others(42): Show c.82+5704_82+5705insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679165	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01123.hp2 others(21): Show HG00280.hp1 HG00597.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01891.hp2 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG02135.hp2 HG02615.hp1 HG02818.hp2 HG02922.hp2 HG04115.hp2 HG04204.hp1 NA18960.hp2 NA18986.hp2 NA18988.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0026 a0001c0001t0029 a0001c0001t0065 a0001c0001t0067 a0001c0004t0041	a0001c0001t0001g0054 a0001c0001t0001g0117 a0001c0001t0001g0118 others(21): Show a0001c0001t0001g0054 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0085 a0001c0001t0002g0167 a0001c0001t0005g0008 a0001c0001t0008g0053 a0001c0001t0009g0193 a0001c0001t0009g0194 a0001c0001t0011g0044 a0001c0001t0011g0045 a0001c0001t0013g0084 a0001c0001t0013g0124 a0001c0001t0019g0078 a0001c0001t0019g0082 a0001c0001t0019g0192 a0001c0001t0026g0056 a0001c0001t0026g0191 a0001c0001t0029g0233 a0001c0001t0065g0214 a0001c0001t0067g0222 a0001c0004t0041g0210	24	250	0.0960	27	c.82+ others(42): Show c.82+5735_82+5736insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679196	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp1 HG01109.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0068 a0001c0001t0064 a0001c0001t0068	a0001c0001t0064g0190 a0001c0001t0068g0141 a0001c0001t0064g0190 a0001c0001t0068g0141	2	250	0.0080	27	c.82+ others(42): Show c.82+5766_82+5767insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679227	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG02145.hp1 others(8): Show HG00733.hp2 HG00741.hp1 HG02145.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG03516.hp2 HG03669.hp1 NA19063.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0029 a0001c0001t0071 a0001c0001t0075	a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0005g0034 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0005g0034 a0001c0001t0011g0040 a0001c0001t0013g0129 a0001c0001t0014g0015 a0001c0001t0014g0110 a0001c0001t0021g0042 a0001c0001t0029g0217 a0001c0001t0071g0004 a0001c0001t0075g0016	11	250	0.0440	27	c.82+ others(42): Show c.82+5797_82+5798insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679258	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG02451.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0042 a0001c0001t0001 a0001c0001t0042	a0001c0001t0001g0114 a0001c0001t0042g0157 a0001c0001t0001g0114 a0001c0001t0042g0157	2	250	0.0080	27	c.82+ others(42): Show c.82+5828_82+5829insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679289	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01167.hp1 others(14): Show HG00733.hp1 HG01069.hp1 HG01167.hp1 HG01192.hp2 HG01261.hp1 HG01884.hp1 HG01928.hp1 HG02056.hp1 HG02109.hp2 HG02615.hp2 HG02622.hp1 HG03654.hp1 NA18747.hp1 NA19000.hp1 NA19005.hp2 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0038 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0072 a0001c0001t0083	a0001c0001t0003g0107 a0001c0001t0004g0131 a0001c0001t0004g0144 others(14): Show a0001c0001t0003g0107 a0001c0001t0004g0131 a0001c0001t0004g0144 a0001c0001t0006g0134 a0001c0001t0010g0140 a0001c0001t0015g0139 a0001c0001t0016g0127 a0001c0001t0017g0135 a0001c0001t0018g0106 a0001c0001t0024g0143 a0001c0001t0038g0089 a0001c0001t0046g0138 a0001c0001t0050g0136 a0001c0001t0051g0130 a0001c0001t0052g0137 a0001c0001t0072g0024 a0001c0001t0083g0132	17	250	0.0680	27	c.82+ others(42): Show c.82+5859_82+5860insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679302	G G	GTTTATAG others(20): Show GTTTATAGATACATGTTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 NA18975.hp2 others(1): Show HG01123.hp1 HG01255.hp1 NA18975.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0038 a0001c0001t0003 a0001c0001t0018 a0001c0001t0038	a0001c0001t0003g0200 a0001c0001t0003g0208 a0001c0001t0018g0198 others(1): Show a0001c0001t0003g0200 a0001c0001t0003g0208 a0001c0001t0018g0198 a0001c0001t0038g0199	4	250	0.0160	27	c.82+ others(42): Show c.82+5859_82+5860insCATGTTTATATATTTAATTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679567	A A	ATATTTAA others(20): Show ATATTTAATTTATAGATAAATATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0149 a0001c0001t0078g0149	1	250	0.0040	27	c.82+ others(42): Show c.82+6117_82+6118insTTAATTTATAGATAAATATATATTTAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7796244	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0190 a0001c0001t0064g0190	1	250	0.0040	27	c.83- others(42): Show c.83-5402_83-5401insTTTTTTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03579.hp2 HG02622.hp2 HG03579.hp2	a0023 a0084 a0023 a0084	a0023c0118 a0084c0119 a0023c0118 a0084c0119	a0023c0118t0001 a0084c0119t0013 a0023c0118t0001 a0084c0119t0013	a0023c0118t0001g0274 a0084c0119t0013g0279 a0023c0118t0001g0274 a0084c0119t0013g0279	2	400	0.0050	27	c.932 others(44): Show c.932-3814_932-3813insTTTTTTTTTTTTTTTTTTTTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMOD_chr16_20328051_20357715	20345442	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	404	0.0025	27	c.118 others(44): Show c.1182+683_1182+684insAGAAAGAAAGAGAAAGAAAGAAAGAAA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UNC13A_chr19_17596336_17693354	17631184	T T	TTCCTCCC others(20): Show TTCCTCCCTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0273 a0002c0005t0001g0273	1	320	0.0031	27	c.342 others(44): Show c.3429-435_3429-434insGGGAGGGAGGGAGGGAAGGAGGGAGGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0001 a0001c0013t0001g0001	1	224	0.0045	27	c.152 others(42): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATATAT others(20): Show ATATATATAAATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	158	0.0063	27	c.298 others(48): Show c.2983+22239_2983+22240insATATATAAATTTTTTTTTTTTTTT TTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54132074	C C	CTTTTTTT others(20): Show CTTTTTTTTTCTTTTTCTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00735.hp1 others(26): Show HG00099.hp1 HG00423.hp2 HG00735.hp1 HG01243.hp1 HG01255.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02109.hp1 HG02132.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG03654.hp1 NA18522.hp1 NA18939.hp1 NA18952.hp2 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA19030.hp1 NA19081.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0010	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0033 a0001c0040 a0002c0018 a0004c0009 a0005c0011 a0007c0010 a0010c0028	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 others(21): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0037 a0001c0002t0001 a0001c0002t0005 a0001c0002t0020 a0001c0002t0023 a0001c0002t0034 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0053 a0001c0007t0012 a0001c0033t0033 a0001c0040t0026 a0002c0018t0004 a0004c0009t0026 a0005c0011t0003 a0007c0010t0002 a0010c0028t0019	a0001c0001t0002g0102 a0001c0001t0002g0141 a0001c0001t0007g0006 others(26): Show a0001c0001t0002g0102 a0001c0001t0002g0141 a0001c0001t0007g0006 a0001c0001t0007g0152 a0001c0001t0011g0077 a0001c0001t0018g0033 a0001c0001t0019g0025 a0001c0001t0025g0004 a0001c0001t0037g0158 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0005g0123 a0001c0002t0020g0020 a0001c0002t0020g0024 a0001c0002t0020g0041 a0001c0002t0023g0064 a0001c0002t0034g0079 a0001c0003t0001g0019 a0001c0003t0002g0088 a0001c0003t0005g0120 a0001c0003t0053g0058 a0001c0007t0012g0154 a0001c0033t0033g0093 a0001c0040t0026g0027 a0002c0018t0004g0046 a0004c0009t0026g0021 a0005c0011t0003g0078 a0007c0010t0002g0139 a0010c0028t0019g0008	29	158	0.1835	27	c.298 others(48): Show c.2984-10935_2984-10934insCTTTTTCTTTTTCTTTTTTTTTTT TTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54175508	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	158	0.0063	27	c.307 others(48): Show c.3071+31846_3071+31847insTTTTTTTTTTTTTTTTTTTTTTTT TTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54250750	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0051 a0001c0002t0022 a0001c0002t0051	a0001c0002t0022g0092 a0001c0002t0051g0157 a0001c0002t0022g0092 a0001c0002t0051g0157	2	158	0.0127	27	c.344 others(44): Show c.3448+308_3448+309insCTTTCTTTCTTTCTTTCTTTCTTTCTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54482614	A A	AATTCCAC others(20): Show AATTCCACTGTTCTCTCCCAGATGCTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00639.hp1 others(66): Show HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00735.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01993.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18947.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18964.hp2 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA19030.hp1 NA19081.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0011 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0021 a0001c0034 a0001c0035 a0001c0040 a0001c0041 a0002c0016 a0002c0019 a0003c0037 a0003c0038 a0004c0009 a0004c0026 a0005c0011 a0011c0039 a0014c0025 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0030 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0051 a0001c0002t0060 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0021 a0001c0003t0039 a0001c0003t0050 a0001c0003t0053 a0001c0004t0018 a0001c0004t0028 a0001c0004t0052 a0001c0004t0055 a0001c0006t0027 a0001c0006t0049 a0001c0007t0001 a0001c0007t0012 a0001c0007t0016 a0001c0021t0013 a0001c0034t0058 a0001c0035t0001 a0001c0040t0026 a0001c0041t0025 a0002c0016t0004 a0002c0019t0031 a0002c0019t0054 a0003c0037t0008 a0003c0038t0011 a0004c0009t0005 a0004c0026t0001 a0005c0011t0003 a0011c0039t0001 a0014c0025t0018 a0015c0024t0028	a0001c0001t0001g0003 a0001c0001t0002g0067 a0001c0001t0002g0102 others(66): Show a0001c0001t0001g0003 a0001c0001t0002g0067 a0001c0001t0002g0102 a0001c0001t0006g0137 a0001c0001t0007g0016 a0001c0001t0011g0077 a0001c0001t0011g0150 a0001c0001t0012g0056 a0001c0001t0016g0115 a0001c0001t0018g0033 a0001c0001t0019g0025 a0001c0001t0019g0042 a0001c0001t0025g0004 a0001c0001t0030g0142 a0001c0001t0037g0158 a0001c0002t0001g0005 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0002g0082 a0001c0002t0005g0126 a0001c0002t0022g0092 a0001c0002t0023g0064 a0001c0002t0024g0116 a0001c0002t0051g0157 a0001c0002t0060g0146 a0001c0003t0001g0019 a0001c0003t0003g0065 a0001c0003t0004g0011 a0001c0003t0005g0120 a0001c0003t0005g0128 a0001c0003t0009g0110 a0001c0003t0009g0114 a0001c0003t0009g0119 a0001c0003t0010g0009 a0001c0003t0010g0023 a0001c0003t0010g0026 a0001c0003t0021g0155 a0001c0003t0039g0101 a0001c0003t0050g0012 a0001c0003t0053g0058 a0001c0004t0018g0096 a0001c0004t0028g0148 a0001c0004t0052g0036 a0001c0004t0055g0095 a0001c0006t0027g0050 a0001c0006t0027g0052 a0001c0006t0049g0108 a0001c0007t0001g0029 a0001c0007t0012g0154 a0001c0007t0016g0135 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0034t0058g0149 a0001c0035t0001g0001 a0001c0040t0026g0027 a0001c0041t0025g0156 a0002c0016t0004g0053 a0002c0019t0031g0071 a0002c0019t0054g0059 a0003c0037t0008g0094 a0003c0038t0011g0002 a0004c0009t0005g0132 a0004c0026t0001g0022 a0005c0011t0003g0073 a0005c0011t0003g0078 a0011c0039t0001g0037 a0014c0025t0018g0030 a0015c0024t0028g0017	69	158	0.4367	27	c.493 others(48): Show c.4934-11986_4934-11960dupTGTTCTCTCCCAGATGCTGTATTC CAC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54482614	A A	AATTCCAC others(20): Show AATTCCACTGTTCTCTCCCGGATGCTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0081 a0001c0002t0008g0081	1	158	0.0063	27	c.493 others(48): Show c.4934-11976_4934-11975insGGATGCTGTATTCCACTGTTCTCT CCC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20905.hp2 HG02622.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0262 a0001c0001t0005g0062 a0001c0001t0005g0262	2	434	0.0046	27	c.115 others(46): Show c.1151+1945_1151+1946insAAAAAAAAAAAAAAAAAAAAAAAAAA A	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5A_chr5_176805559_176885898	176859736	G G	GTCCTTGC others(20): Show GTCCTTGCTAGAGGGCATAGCTGCTAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	268	0.0037	27	c.71- others(42): Show c.71-2888_71-2887insTCCTTGCTAGAGGGCATAGCTGCTAGA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14			chr5	TogoVar
UNC5C_chr4_95157504_95553973	95197061	T T	TTTATATA others(20): Show TTTATATATTATATTTATGTAATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 NA20300.hp2 HG02630.hp2 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0012 a0001c0021 a0001c0005 a0001c0012 a0001c0021	a0001c0005t0004 a0001c0012t0006 a0001c0021t0006 a0001c0005t0004 a0001c0012t0006 a0001c0021t0006	a0001c0005t0004g0054 a0001c0012t0006g0155 a0001c0021t0006g0083 a0001c0005t0004g0054 a0001c0012t0006g0155 a0001c0021t0006g0083	3	204	0.0147	27	c.213 others(46): Show c.2136+5669_2136+5670insTATATATTACATAAATATAATATATA A	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95267949	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03139.hp2 HG02055.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0059 a0001c0009t0001g0195 a0001c0003t0001g0059 a0001c0009t0001g0195	2	204	0.0098	27	c.594 others(46): Show c.594+10309_594+10310insAAAAAAAAAAAAAAAAAAAAAAAAAA A	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95424518	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0191 a0001c0003t0003g0191	1	204	0.0049	27	c.125 others(46): Show c.125-88888_125-88887insAAAAAAAAAAAAAAAAAAAAAAAAAA A	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35365591	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	64	0.0156	27	c.103 others(48): Show c.103+129730_103+129731insAAAAAAAAAAAAAAAAAAAAAAAA AAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35487593	A A	ACACACAC others(20): Show ACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	64	0.0156	27	c.104 others(46): Show c.104-61698_104-61697insACACACACACACACACACACACCCCC C	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35710934	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	64	0.0156	27	c.111 others(46): Show c.1117+4995_1117+4996insTTTTTTTTTTTTTTTTTTTTTTTTTT T	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC80_chr2_209766832_210004296	209808797	T T	TGCGCTAC others(20): Show TGCGCTACTCAGCGACCTCGTTGCCTCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(184): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(52): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0029 a0001c0031 a0001c0032 a0001c0034 a0001c0035 a0001c0038 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0045 a0001c0047 a0001c0048 a0002c0011 a0002c0018 a0002c0025 a0002c0033 a0002c0055 a0003c0019 a0003c0020 a0004c0049 a0004c0050 a0005c0037 a0005c0046 a0006c0017 a0007c0054 a0008c0053 a0009c0036 a0010c0044 a0011c0027 a0012c0028 a0013c0039 a0014c0030 a0015c0052 a0016c0051	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0003 a0001c0008t0002 a0001c0008t0004 a0001c0009t0001 a0001c0009t0019 a0001c0010t0001 a0001c0010t0008 a0001c0012t0001 a0001c0013t0002 a0001c0013t0011 a0001c0014t0001 a0001c0015t0001 a0001c0016t0002 a0001c0021t0015 a0001c0022t0018 a0001c0023t0002 a0001c0024t0001 a0001c0026t0006 a0001c0029t0001 a0001c0031t0003 a0001c0032t0003 a0001c0034t0003 a0001c0035t0001 a0001c0038t0004 a0001c0040t0002 a0001c0041t0002 a0001c0042t0003 a0001c0043t0001 a0001c0045t0001 a0001c0047t0002 a0001c0048t0001 a0002c0011t0001 a0002c0018t0001 a0002c0025t0001 a0002c0033t0001 a0002c0055t0001 a0003c0019t0001 a0003c0020t0006 a0004c0049t0002 a0004c0050t0002 a0005c0037t0003 a0005c0046t0001 a0006c0017t0001 a0006c0017t0002 a0007c0054t0002 a0008c0053t0001 a0009c0036t0001 a0010c0044t0001 a0011c0027t0001 a0012c0028t0008 a0013c0039t0003 a0014c0030t0002 a0015c0052t0003 a0016c0051t0001	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0064 others(184): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0087 a0001c0001t0002g0101 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0003g0022 a0001c0001t0003g0146 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0179 a0001c0001t0004g0143 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0174 a0001c0001t0004g0178 a0001c0001t0005g0149 a0001c0001t0006g0051 a0001c0001t0007g0029 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0010g0147 a0001c0001t0010g0148 a0001c0001t0012g0177 a0001c0001t0013g0059 a0001c0001t0014g0074 a0001c0001t0016g0099 a0001c0002t0001g0030 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0002g0053 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0003g0142 a0001c0002t0003g0167 a0001c0002t0003g0176 a0001c0002t0004g0152 a0001c0002t0005g0140 a0001c0002t0005g0141 a0001c0002t0005g0144 a0001c0002t0005g0164 a0001c0002t0009g0049 a0001c0002t0009g0069 a0001c0002t0009g0112 a0001c0002t0011g0052 a0001c0002t0020g0135 a0001c0003t0001g0078 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0084 a0001c0003t0002g0086 a0001c0003t0006g0021 a0001c0003t0006g0089 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0032 a0001c0004t0001g0082 a0001c0004t0001g0088 a0001c0004t0001g0139 a0001c0004t0002g0083 a0001c0005t0001g0076 a0001c0005t0001g0108 a0001c0005t0001g0138 a0001c0005t0001g0187 a0001c0005t0002g0080 a0001c0005t0007g0004 a0001c0006t0001g0001 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0002g0079 a0001c0006t0002g0180 a0001c0007t0001g0035 a0001c0007t0001g0038 a0001c0007t0003g0023 a0001c0008t0002g0107 a0001c0008t0004g0151 a0001c0008t0004g0161 a0001c0009t0001g0025 a0001c0009t0001g0026 a0001c0009t0019g0002 a0001c0010t0001g0024 a0001c0010t0008g0027 a0001c0010t0008g0028 a0001c0012t0001g0044 a0001c0012t0001g0077 a0001c0013t0002g0184 a0001c0013t0011g0182 a0001c0014t0001g0040 a0001c0014t0001g0042 a0001c0015t0001g0019 a0001c0015t0001g0020 a0001c0016t0002g0015 a0001c0016t0002g0085 a0001c0021t0015g0094 a0001c0022t0018g0181 a0001c0023t0002g0097 a0001c0024t0001g0081 a0001c0026t0006g0034 a0001c0029t0001g0045 a0001c0031t0003g0160 a0001c0032t0003g0175 a0001c0034t0003g0145 a0001c0035t0001g0185 a0001c0038t0004g0155 a0001c0040t0002g0120 a0001c0041t0002g0136 a0001c0042t0003g0162 a0001c0043t0001g0188 a0001c0045t0001g0039 a0001c0047t0002g0003 a0001c0048t0001g0046 a0002c0011t0001g0007 a0002c0011t0001g0008 a0002c0011t0001g0010 a0002c0018t0001g0005 a0002c0018t0001g0006 a0002c0025t0001g0036 a0002c0033t0001g0072 a0002c0055t0001g0009 a0003c0019t0001g0092 a0003c0020t0006g0093 a0004c0049t0002g0132 a0004c0050t0002g0127 a0005c0037t0003g0173 a0005c0046t0001g0102 a0006c0017t0001g0018 a0006c0017t0002g0017 a0007c0054t0002g0123 a0008c0053t0001g0031 a0009c0036t0001g0063 a0010c0044t0001g0186 a0011c0027t0001g0033 a0012c0028t0008g0037 a0013c0039t0003g0153 a0014c0030t0002g0065 a0015c0052t0003g0150 a0016c0051t0001g0183	187	188	0.9947	27	c.939 others(44): Show c.939-4781_939-4780insGCTACTCAGCGACCTCGTTGCCTCGGC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	7/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209903566	A A	ATATATAG others(20): Show ATATATAGTATATATGTAATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0001 a0011c0027t0001	a0011c0027t0001g0033 a0011c0027t0001g0033	1	188	0.0053	27	c.458 others(46): Show c.4582-1193_4582-1192insGTATATATGTAATATATATACTATAT A	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209979316	T T	TTAAATTG others(20): Show TTAAATTGTGCCATTACACTATGAAGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0177 a0001c0001t0012g0177	1	188	0.0053	27	c.911 others(44): Show c.9118+608_9118+609insTAAATTGTGCCATTACACTATGAAGGC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	59/64			chr2	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA20129.hp1 HG00280.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0244 a0002c0003t0001g0122 a0001c0002t0001g0244 a0002c0003t0001g0122	2	334	0.0060	27	c.337 others(46): Show c.3379-2168_3379-2142dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF3A_chr13_114276601_114310817	114281899	T T	TGGAGGGA others(20): Show TGGAGGGAGGGGAGGGAGGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG03942.hp1 others(9): Show HG01106.hp2 HG01192.hp1 HG03942.hp1 HG04115.hp2 NA18906.hp2 NA18940.hp2 NA18957.hp1 NA18973.hp2 NA18985.hp1 NA19012.hp1 NA19062.hp1 NA19070.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(8): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0002c0002t0001g0008 a0002c0002t0001g0056 a0002c0002t0001g0057 a0003c0003t0001g0054 a0003c0003t0001g0055	12	450	0.0267	27	c.207 others(40): Show c.207+56_207+82dupAGGGAGGGGAGGGAGGGGAGGGAGGGG	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	420	0.0024	27	c.42 others(38): Show c.4225_*4226insTATATATATATATATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UQCC1_chr20_35297578_35416973	35338888	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0043 a0002c0002t0003g0043	1	256	0.0039	27	c.573 others(44): Show c.573+8275_573+8276insATATATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp1 HG03041.hp2 others(1): Show HG02630.hp1 HG02970.hp1 HG03041.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0007t0001 a0002c0002t0003 a0001c0001t0001 a0001c0007t0001 a0002c0002t0003	a0001c0001t0001g0194 a0001c0007t0001g0147 a0002c0002t0003g0044 others(1): Show a0001c0001t0001g0194 a0001c0007t0001g0147 a0002c0002t0003g0044 a0002c0002t0003g0051	4	256	0.0156	27	c.573 others(44): Show c.573+8271_573+8272insATATATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02257.hp1 HG02818.hp2 others(2): Show HG02129.hp1 HG02257.hp1 HG02818.hp2 HG03654.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0144 a0001c0001t0001g0203 a0002c0002t0001g0089 others(2): Show a0001c0001t0001g0144 a0001c0001t0001g0203 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0102	5	256	0.0195	27	c.24+ others(42): Show c.24+1235_24+1236insTTTTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35412617	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA19066.hp1 NA18969.hp2 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0094 a0002c0002t0001g0071 a0002c0002t0001g0094	2	256	0.0078	27	c.-65 others(36): Show c.-655_-654insTTTTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		645		chr20	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA19089.hp1 HG02293.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	388	0.0052	27	c.21 others(38): Show c.2134_*2135insAAAAAAAAAAAAAAAAAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar

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