Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ULK2_chr17_19765830_19872936	19858719	C C	CAGAACTT others(15): Show CAGAACTTTGGGAGGCCGAAGCA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	286	0.0035	22	c.225 others(39): Show c.225+6062_225+6083dupTGCTTCGGCCTCCCAAAGTTCT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	3/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41311894	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0005 a0004c0002t0005	a0004c0002t0005g0068 a0004c0002t0005g0068	1	70	0.0143	22	c.367 others(43): Show c.3679-62321_3679-62320insCATATATATATATATATATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41317063	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0005 a0004c0002t0005	a0004c0002t0005g0067 a0004c0002t0005g0067	1	21	0.0476	22	c.367 others(43): Show c.3679-67511_3679-67490dupAAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41431547	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01515.hp1 HG02145.hp1 others(6): Show HG01169.hp1 HG01515.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02572.hp2 HG02818.hp1 HG04115.hp1 NA18522.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0017	a0001c0001 a0002c0004 a0003c0003 others(3): Show a0001c0001 a0002c0004 a0003c0003 a0005c0006 a0008c0010 a0017c0012	a0001c0001t0001 a0002c0004t0002 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0004t0002 a0003c0003t0001 a0005c0006t0004 a0008c0010t0002 a0017c0012t0001	a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0053 a0002c0004t0002g0014 a0002c0004t0002g0015 a0003c0003t0001g0060 a0005c0006t0004g0002 a0008c0010t0002g0004 a0017c0012t0001g0063	9	35	0.2571	22	c.349 others(43): Show c.3492+23949_3492+23950insAAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506764	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0037 a0012c0020t0001g0037	1	55	0.0182	22	c.322 others(43): Show c.3227-43512_3227-43511insTTTTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	21	0.0476	22	c.322 others(43): Show c.3227-43515_3227-43514insATTTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41657818	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp1 HG03453.hp1 HG06807.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0012 a0002c0009t0002g0018 a0002c0009t0002g0012 a0002c0009t0002g0018	2	9	0.2222	22	c.307 others(41): Show c.3071+5788_3071+5789insTTTTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41658733	A A	ACACACAC others(15): Show ACACACACACACACACACACTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02896.hp1 HG03453.hp1 HG00621.hp2 HG02896.hp1 HG03453.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0009 a0007c0005 a0001c0001 a0002c0009 a0007c0005	a0001c0001t0003 a0002c0009t0002 a0007c0005t0001 a0001c0001t0003 a0002c0009t0002 a0007c0005t0001	a0001c0001t0003g0072 a0002c0009t0002g0018 a0007c0005t0001g0065 a0001c0001t0003g0072 a0002c0009t0002g0018 a0007c0005t0001g0065	3	69	0.0435	22	c.307 others(41): Show c.3071+4873_3071+4874insACAGTGTGTGTGTGTGTGTGTG	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41766189	A A	ATTCTCTG others(15): Show ATTCTCTGGGAGATTCAAGAACC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01515.hp1 HG02258.hp1 others(4): Show HG01169.hp2 HG01515.hp1 HG02258.hp1 HG02451.hp2 HG03209.hp1 HG03486.hp1 HG04184.hp2	a0003 a0019 a0003 a0019	a0003c0003 a0003c0016 a0019c0017 a0003c0003 a0003c0016 a0019c0017	a0003c0003t0001 a0003c0003t0006 a0003c0016t0001 others(1): Show a0003c0003t0001 a0003c0003t0006 a0003c0016t0001 a0019c0017t0001	a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 others(4): Show a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0006g0058 a0003c0016t0001g0057 a0019c0017t0001g0022	7	70	0.1000	22	c.219 others(43): Show c.2194-11702_2194-11701insGGTTCTTGAATCTCCCAGAGAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	21/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41891165	G G	GCGGGGAA others(15): Show GCGGGGAAAGAAGGGACGGGAGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0001 a0019c0017t0001	a0019c0017t0001g0022 a0019c0017t0001g0022	1	63	0.0159	22	c.157 others(41): Show c.1577+4352_1577+4353insGCTCCCGTCCCTTCTTTCCCCG	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41901479	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01071.hp1 HG01169.hp2 others(10): Show HG00621.hp1 HG01071.hp1 HG01169.hp2 HG01433.hp2 HG01515.hp1 HG02165.hp1 HG02257.hp2 HG02735.hp1 HG02895.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18522.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0018 a0020	a0001c0001 a0003c0003 a0006c0007 others(2): Show a0001c0001 a0003c0003 a0006c0007 a0018c0021 a0020c0018	a0001c0001t0001 a0003c0003t0001 a0003c0003t0006 others(3): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0006 a0006c0007t0001 a0018c0021t0001 a0020c0018t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0038 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0003c0003t0001g0060 a0003c0003t0006g0058 a0006c0007t0001g0034 a0018c0021t0001g0045 a0020c0018t0001g0050	13	28	0.4643	22	c.118 others(39): Show c.1183-651_1183-650insAAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	12/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7767128	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp2 HG03927.hp2 others(6): Show HG00438.hp1 HG01175.hp2 HG03927.hp2 NA18949.hp1 NA18957.hp1 NA18960.hp1 NA18988.hp1 NA19004.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0023	a0001c0001t0002g0067 a0001c0001t0003g0126 a0001c0001t0003g0205 others(6): Show a0001c0001t0002g0067 a0001c0001t0003g0126 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0006g0170 a0001c0001t0006g0177 a0001c0001t0010g0092 a0001c0001t0010g0168 a0001c0001t0023g0203	9	155	0.0581	22	c.83- others(39): Show c.83-34528_83-34527insTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7775445	T T	TGCCTCTC others(15): Show TGCCTCTCATTCTCTTTCCTGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	248	0.0040	22	c.83- others(39): Show c.83-26224_83-26223insCCTCTCATTCTCTTTCCTGCCG	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7777574	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp1 HG02622.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0080 a0001c0001t0040 a0001c0001t0080	a0001c0001t0040g0224 a0001c0001t0080g0147 a0001c0001t0040g0224 a0001c0001t0080g0147	2	71	0.0282	22	c.83- others(39): Show c.83-24089_83-24068dupATATATATATATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42069229	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0021 a0021	a0021c0034 a0021c0034	a0021c0034t0009 a0021c0034t0009	a0021c0034t0009g0086 a0021c0034t0009g0086	1	91	0.0110	22	c.-20 others(33): Show c.-2088_-2087insACACACACACACACACACACAC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding		2087		chr21	TogoVar
UMPS_chr3_124725452_124754273	124746755	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0018 a0001c0001t0065g0018	1	8	0.1250	22	c.26 others(33): Show c.2692_*2713dupTGTGTGTGTGTGTGTGTGTGTG	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	6/6	2714	INFO_REALIGN_3_PRIME	chr3	TogoVar
UNC119_chr17_28541708_28557624	28541743	T T	TAGCTAGC others(15): Show TAGCTAGCTGACTGTGGCTATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	22	c.55 others(33): Show c.5553_*5554insTCATAGCCACAGTCAGCTAGCT	UNC119	ENSG00000109103.12	transcript	ENST00000335765.9	protein_coding		4964		chr17	TogoVar
UNC13A_chr19_17596336_17693354	17678787	A A	AGAGGTAG others(15): Show AGAGGTAGAATGTGACGGGATCG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	318	0.0031	22	c.23- others(37): Show c.23-2768_23-2747dupCGATCCCGTCACATTCTACCTC	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	1/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35157648	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02615.hp1 others(5): Show HG02109.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp1 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0006 a0001c0001 a0002c0003 a0005c0006	a0001c0001t0003 a0002c0003t0001 a0005c0006t0001 a0001c0001t0003 a0002c0003t0001 a0005c0006t0001	a0001c0001t0003g0165 a0002c0003t0001g0193 a0002c0003t0001g0204 others(5): Show a0001c0001t0003g0165 a0002c0003t0001g0193 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0208 a0005c0006t0001g0194 a0005c0006t0001g0196 a0005c0006t0001g0202	8	14	0.5714	22	c.-46 others(33): Show c.-4636_-4635insTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4360		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02976.hp1 NA18993.hp2 HG00544.hp1 HG02976.hp1 NA18993.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0002c0010 a0016c0037 a0001c0001 a0002c0010 a0016c0037	a0001c0001t0001 a0002c0010t0001 a0016c0037t0001 a0001c0001t0001 a0002c0010t0001 a0016c0037t0001	a0001c0001t0001g0004 a0002c0010t0001g0032 a0016c0037t0001g0131 a0001c0001t0001g0004 a0002c0010t0001g0032 a0016c0037t0001g0131	3	30	0.1000	22	c.152 others(37): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297547	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0201 a0005c0006t0001g0201	1	185	0.0054	22	c.761 others(39): Show c.761+1637_761+1638insTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297561	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01358.hp1 HG02280.hp2 others(7): Show HG00280.hp2 HG01358.hp1 HG02280.hp2 HG03017.hp2 HG03471.hp2 HG04184.hp2 NA19063.hp1 NA19068.hp1 NA20300.hp2 NA20805.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0002c0004 a0002c0010 others(2): Show a0002c0003 a0002c0004 a0002c0010 a0002c0011 a0013c0017	a0002c0003t0001 a0002c0004t0001 a0002c0010t0001 others(2): Show a0002c0003t0001 a0002c0004t0001 a0002c0010t0001 a0002c0011t0001 a0013c0017t0001	a0002c0003t0001g0026 a0002c0003t0001g0193 a0002c0003t0001g0207 others(7): Show a0002c0003t0001g0026 a0002c0003t0001g0193 a0002c0003t0001g0207 a0002c0004t0001g0030 a0002c0004t0001g0073 a0002c0004t0001g0213 a0002c0004t0001g0214 a0002c0010t0001g0035 a0002c0011t0001g0175 a0013c0017t0001g0022	10	175	0.0571	22	c.761 others(39): Show c.761+1637_761+1638insTTTTTTTGTTTTTTTGTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35380978	C C	CTTGGGTT others(15): Show CTTGGGTTGGCCCCTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp2 HG02922.hp2 others(5): Show HG01175.hp1 HG02257.hp2 HG02922.hp2 HG03098.hp2 NA18951.hp2 NA18998.hp2 NA19043.hp1 NA20129.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0002 a0006c0008t0002g0003 a0006c0008t0002g0008 others(5): Show a0006c0008t0002g0002 a0006c0008t0002g0003 a0006c0008t0002g0008 a0006c0008t0002g0009 a0006c0008t0002g0010 a0006c0008t0002g0011 a0006c0008t0002g0025 a0006c0008t0002g0057	8	222	0.0360	22	c.103 others(41): Show c.10376-101_10376-100insTTTGGGTTGGCCCCTTCTTTTC	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35380996	T T	TTTCCTTG others(15): Show TTTCCTTGGGTTGGCCCCTTCTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0213 a0002c0004t0001g0213	1	209	0.0048	22	c.103 others(39): Show c.10376-92_10376-71dupGGCCCCTTCTCTTCCTTGGGTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATAAATTT others(15): Show ATAAATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0015 a0001c0001t0056g0015	1	19	0.0526	22	c.298 others(43): Show c.2983+22239_2983+22240insAAATTTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54147789	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0058 a0001c0034t0058	a0001c0034t0058g0149 a0001c0034t0058g0149	1	44	0.0227	22	c.307 others(41): Show c.3071+4106_3071+4127dupGTGTGTGTGTGTGTGTGTGTGT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54250751	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18906.hp2 HG02572.hp2 NA18906.hp2	a0001 a0014 a0001 a0014	a0001c0002 a0014c0030 a0001c0002 a0014c0030	a0001c0002t0001 a0014c0030t0014 a0001c0002t0001 a0014c0030t0014	a0001c0002t0001g0018 a0014c0030t0014g0084 a0001c0002t0001g0018 a0014c0030t0014g0084	2	134	0.0149	22	c.344 others(39): Show c.3448+308_3448+309insCTTTCTTTCTTTCTTTCTTTCT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54332305	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03579.hp2 HG03098.hp1 HG03225.hp1 HG03579.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0024 a0001c0001 a0011c0024	a0001c0001t0011 a0001c0001t0059 a0011c0024t0028 a0001c0001t0011 a0001c0001t0059 a0011c0024t0028	a0001c0001t0011g0150 a0001c0001t0059g0147 a0011c0024t0028g0017 a0001c0001t0011g0150 a0001c0001t0059g0147 a0011c0024t0028g0017	3	72	0.0417	22	c.449 others(39): Show c.4494+206_4494+227dupGTGTGTGTGTGTGTGTGTGTGT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54339640	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0043 a0001c0020t0001g0043	1	32	0.0313	22	c.471 others(41): Show c.4713+1154_4713+1175dupATATATATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	17/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54408199	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0015 a0001c0001t0056g0015	1	36	0.0278	22	c.484 others(41): Show c.4848-6774_4848-6753dupAAAAAAAAAAAAAAAAAAAAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	18/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455199	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0044 a0006c0013t0044	a0006c0013t0044g0062 a0006c0013t0044g0062	1	149	0.0067	22	c.493 others(43): Show c.4934-39408_4934-39407insATATATATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455203	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0130 a0001c0001t0045g0130	1	144	0.0069	22	c.493 others(43): Show c.4934-39404_4934-39403insATATATATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54624144	T T	TATCATAG others(15): Show TATCATAGGAGGTGTCTGAATCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0001 a0001c0035t0001g0001	1	156	0.0064	22	c.635 others(39): Show c.6359+194_6359+215dupATAGGAGGTGTCTGAATCAATC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13D_chr17_75822225_75849404	75827610	A A	AGGCCAGG others(15): Show AGGCCAGGAGGCAGATGGGCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG03139.hp1 others(1): Show HG02809.hp1 HG02965.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0038 a0001c0008t0004g0106 a0001c0008t0004g0234 a0001c0008t0004g0038 a0001c0008t0004g0106 a0001c0008t0004g0234	4	410	0.0098	22	c.33 others(31): Show c.333_*354dupCTGGCCCATCTGCCTCCTGGCC	UNC13D	ENSG00000092929.13	transcript	ENST00000207549.9	protein_coding	32/32	354		chr17	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp2 HG02258.hp2 others(9): Show HG00323.hp1 HG01192.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02895.hp1 HG03225.hp2 HG03471.hp1 HG06807.hp2 NA18977.hp1 NA18986.hp2 NA19010.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0014	a0001c0001 a0005c0007 a0009c0019 others(1): Show a0001c0001 a0005c0007 a0009c0019 a0014c0023	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0005c0007t0005 a0009c0019t0005 a0014c0023t0004	a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0251 others(9): Show a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0251 a0001c0001t0005g0151 a0001c0001t0005g0203 a0001c0001t0011g0243 a0005c0007t0005g0207 a0005c0007t0005g0255 a0005c0007t0005g0256 a0005c0007t0005g0258 a0009c0019t0005g0257 a0014c0023t0004g0208	12	20	0.6000	22	c.115 others(41): Show c.1151+1924_1151+1945dupAAAAAAAAAAAAAAAAAAAAAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC45B_chr17_35142817_35194343	35180253	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19054.hp1 NA19067.hp2 NA18950.hp2 NA19054.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0056 a0001c0001t0003g0232 a0001c0001t0008g0281 a0001c0001t0001g0056 a0001c0001t0003g0232 a0001c0001t0008g0281	3	167	0.0180	22	c.225 others(39): Show c.2256-291_2256-270dupGAGAGAGAGAGAGAGAGAGAGA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5A_chr5_176805559_176885898	176834665	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	31	0.0323	22	c.70+ others(39): Show c.70+23863_70+23884dupCTCTCTCTCTCTCTCTCTCTCT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176842492	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	201	0.0050	22	c.71- others(39): Show c.71-20114_71-20113insATATATATATATATATATATAT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95258746	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	105	0.0095	22	c.595 others(39): Show c.595-8101_595-8080dupAAAAAAAAAAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354468	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0180 a0001c0012t0011g0180	1	165	0.0061	22	c.125 others(41): Show c.125-18838_125-18837insATATATATATATATATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95394651	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0195 a0001c0009t0001g0195	1	105	0.0095	22	c.125 others(41): Show c.125-59042_125-59021dupCACACACACACACACACACACA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95424518	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01192.hp2 HG01169.hp1 HG01192.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0044 a0001c0012t0003g0045 a0001c0012t0003g0044 a0001c0012t0003g0045	2	72	0.0278	22	c.125 others(41): Show c.125-88888_125-88887insAAAAAAAAAAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95448221	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0100 a0001c0003t0002g0100	1	167	0.0060	22	c.124 others(43): Show c.124+100512_124+100513insTCTCTCTCTCTCTCTCTCTCTC	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(15): Show CACACACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	21	0.0476	22	c.-52 others(33): Show c.-5273_-5272insACACACACACACACACACACAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35305575	C C	CTCTTTCT others(15): Show CTCTTTCTTTCTTTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG02083.hp1 others(12): Show HG00597.hp1 HG00597.hp2 HG02083.hp1 HG02083.hp2 HG02630.hp2 HG02897.hp2 HG02922.hp1 HG03209.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03688.hp2 NA18522.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0007 a0001c0002t0020 a0001c0003t0003 a0001c0008t0007 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0002g0023 a0001c0001t0016g0019 a0001c0002t0007g0003 a0001c0002t0020g0002 a0001c0003t0003g0008 a0001c0008t0007g0037 a0001c0009t0001g0036	15	39	0.3846	22	c.103 others(41): Show c.103+69689_103+69690insCTTTCTTTCTTTCTCTTTCTTT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35512535	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18983.hp2 HG03688.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0013 a0001c0009t0001g0036 a0001c0001t0001g0013 a0001c0009t0001g0036	2	58	0.0345	22	c.104 others(41): Show c.104-36756_104-36755insGTATATATATATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35512539	G G	GTATGTAT others(15): Show GTATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0037 a0001c0008t0007g0037	1	28	0.0357	22	c.104 others(41): Show c.104-36750_104-36749insGTATATATATATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35512569	A A	ATATATAT others(15): Show ATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03225.hp1 HG02083.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0032 a0001c0001t0006g0010 a0001c0001t0001g0032 a0001c0001t0006g0010	2	3	0.6667	22	c.104 others(41): Show c.104-36722_104-36721insATATATATATATATATATATCT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35587965	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03516.hp2 NA18522.hp1 others(1): Show HG01928.hp1 HG03516.hp2 NA18522.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0016 a0001c0002t0015 a0001c0001t0002 a0001c0001t0016 a0001c0002t0015	a0001c0001t0002g0044 a0001c0001t0002g0057 a0001c0001t0016g0019 others(1): Show a0001c0001t0002g0044 a0001c0001t0002g0057 a0001c0001t0016g0019 a0001c0002t0015g0043	4	10	0.4000	22	c.467 others(39): Show c.467-7581_467-7560dupTATATATATATATATATATATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TTTGTAAA others(15): Show TTTGTAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	24	0.0417	22	c.193 others(39): Show c.1936-593_1936-592insTTGTAAAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16			chr8	TogoVar

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