Joint Open Genome and Omics Platform (JoGo)

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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
DOCK1_chr10_126900428_127457516	126947513	G G	GTGGTGGT others(33): Show GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0132 a0001c0011t0001g0132	1	54	0.0185	40	c.47- others(57): Show c.47-23179_47-23178insGGTGGTTGGTAGTATTACTGTTGGTGGT GATGGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(33): Show TTGGTGGTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0006 a0001c0042t0006	a0001c0042t0006g0018 a0001c0042t0006g0018	1	38	0.0263	40	c.47- others(57): Show c.47-23091_47-23090insGTGGTGGTGGTGGTAGTTGGTAGTATTA CTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948181	G G	GTGGTGGT others(33): Show GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0131 a0002c0029t0001g0131	1	117	0.0085	40	c.47- others(57): Show c.47-22519_47-22518insGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127093198	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0123 a0001c0028t0001g0123	1	115	0.0087	40	c.244 others(61): Show c.2446-13010_2446-13009insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127347846	T T	TCCCTCCC others(33): Show TCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0050 a0003c0050	a0003c0050t0003 a0003c0050t0003	a0003c0050t0003g0129 a0003c0050t0003g0129	1	127	0.0079	40	c.322 others(59): Show c.3224+4104_3224+4105insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51016121	T T	TCATATAT others(33): Show TCATATATATCATATATATGATATATATATCATATATATCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19007.hp1 HG00597.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0141 a0001c0001t0002g0142	2	122	0.0164	40	c.316 others(59): Show c.316-48327_316-48326insCATATATATCATATATATGATATATA TATCATATATATCA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51016147	T T	TCATATAT others(33): Show TCATATATATCATATATATGATATATATATCATATATATCA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	152	0.0066	40	c.316 others(59): Show c.316-48301_316-48300insCATATATATCATATATATGATATATA TATCATATATATCA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51016166	C C	CATATATA others(33): Show CATATATATATCATATATTTCTATATATGATATATATATCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	194	0.0052	40	c.316 others(59): Show c.316-48282_316-48281insATATATATATCATATATTTCTATATA TGATATATATATCA	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK4_chr7_111721110_112211399	111926120	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	70	0.0143	40	c.106 others(59): Show c.1066+9419_1066+9420insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	12/52			chr7	TogoVar
DOCK4_chr7_111721110_112211399	111983862	G G	GCGCGCGC others(33): Show GCGCGCGCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	26	0.0385	40	c.549 others(55): Show c.549+443_549+444insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGCGCGCG	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	7/52			chr7	TogoVar
DOCK7_chr1_62449726_62693386	62524931	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	6	0.1667	40	c.393 others(59): Show c.3936+3219_3936+3220insTATATATATATATATATATATATATA TATATATATATATA	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	31/49			chr1	TogoVar
DOK3_chr5_177496904_177514826	177497008	G G	GGGGGAGG others(33): Show GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	198	0.0051	40	c.69 others(51): Show c.6974_*6975insTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCC	DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding		4895		chr5	TogoVar
DOK5_chr20_54470593_54656169	54534819	G G	GTTTCTTT others(33): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp1 HG02559.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0007 a0001c0001t0007 a0001c0002t0007	a0001c0001t0007g0091 a0001c0002t0007g0119 a0001c0001t0007g0091 a0001c0002t0007g0119	2	56	0.0357	40	c.67- others(57): Show c.67-20083_67-20082insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69828884	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG02451.hp2 HG00642.hp1 HG01106.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0007 a0001c0003t0049 a0001c0001t0001 a0001c0002t0007 a0001c0003t0049	a0001c0001t0001g0065 a0001c0002t0007g0158 a0001c0003t0049g0131 a0001c0001t0001g0065 a0001c0002t0007g0158 a0001c0003t0049g0131	3	28	0.1071	40	c.857 others(59): Show c.857-12344_857-12343insTATATATATATATATATATATATATA TATATATATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DONSON_chr21_33572551_33593684	33583200	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19011.hp2 NA19084.hp2 NA18950.hp1 NA19011.hp2 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0285 a0001c0001t0001g0286 a0004c0004t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0004c0004t0001g0284	3	42	0.0714	40	c.964 others(55): Show c.964+287_964+288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9			chr21	TogoVar
DPEP1_chr16_89608642_89643433	89619785	C C	CTCCCTTC others(33): Show CTCCCTTCACCCCCTCCCTGCAGCCTGCTGTGCCCCCCACT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	241	0.0041	40	c.-10 others(59): Show c.-107+6066_-107+6067insTCCCTTCACCCCCTCCCTGCAGCCTG CTGTGCCCCCCACT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP2NB_chr16_68008436_68020911	68020851	G G	GTATGTAT others(33): Show GTATGTATGTGTATATATATATATATATATATATACGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	263	0.0038	40	c.-50 others(51): Show c.-5082_-5081insTATACGTATATATATATATATATATATATACACA TACATA	DPEP2NB	ENSG00000263201.1	transcript	ENST00000574912.1	protein_coding		4941		chr16	TogoVar
DPF3_chr14_72604034_72899101	72756906	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0002 a0001c0002t0011g0002	1	91	0.0110	40	c.194 others(57): Show c.194-3536_194-3535insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72861737	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAGAAAGAAAGAAAGAGAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	111	0.0090	40	c.32+ others(57): Show c.32+32319_32+32320insTTCTCTTTCTTTCTCTCTTTCTTTCTTT CTCTTTCTTTCT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72884940	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18942.hp1 NA18961.hp1 HG02056.hp2 NA18942.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0057 a0001c0001t0014 a0001c0001t0015 a0001c0001t0057	a0001c0001t0014g0135 a0001c0001t0015g0191 a0001c0001t0057g0225 a0001c0001t0014g0135 a0001c0001t0015g0191 a0001c0001t0057g0225	3	67	0.0448	40	c.32+ others(55): Show c.32+9116_32+9117insTATATATATATATATATATATATATATATA TATATATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72884940	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATGTATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0038 a0001c0001t0067g0038	1	65	0.0154	40	c.32+ others(55): Show c.32+9116_32+9117insTATATATATACATATATATATATATATATA TATATATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72884951	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0162 a0001c0001t0026g0162	1	231	0.0043	40	c.32+ others(55): Show c.32+9105_32+9106insGTATATATATATATATATATATATATATAT ATATATATAT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72884953	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG02080.hp1 others(2): Show HG00738.hp1 HG01496.hp2 HG02080.hp1 HG02602.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0041 a0001c0001t0062 others(2): Show a0001c0001t0002 a0001c0001t0041 a0001c0001t0062 a0001c0001t0104 a0001c0002t0078	a0001c0001t0002g0115 a0001c0001t0041g0078 a0001c0001t0062g0172 others(2): Show a0001c0001t0002g0115 a0001c0001t0041g0078 a0001c0001t0062g0172 a0001c0001t0104g0132 a0001c0002t0078g0167	5	193	0.0259	40	c.32+ others(55): Show c.32+9103_32+9104insGTATATATATATATATATATATATATATAT ATATATATAT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72884955	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0114 a0001c0002t0028g0114	1	230	0.0043	40	c.32+ others(55): Show c.32+9101_32+9102insGTGTATATATATATATATATATATATATAT ATATATATAT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	55	0.0182	40	c.312 others(59): Show c.312+41706_312+41707insATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02257.hp1 HG02015.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0002g0040 a0001c0001t0001g0029 a0001c0001t0002g0040	2	56	0.0357	40	c.312 others(59): Show c.312+41706_312+41707insATATATATATATATATATATATATTT TTTTTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPM1_chr20_50929870_50963532	50941396	T T	TCATATTA others(33): Show TCATATTATATATATTCATATATATATTCATATTATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19043.hp2 HG01261.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0264 a0001c0001t0003g0258 a0001c0001t0001g0264 a0001c0001t0003g0258	2	378	0.0053	40	c.495 others(55): Show c.495-464_495-463insTATATATAATATGAATATATATATGAATAT ATATAATATG	DPM1	ENSG00000000419.14	transcript	ENST00000371588.10	protein_coding	6/8			chr20	TogoVar
DPP10_chr2_114437641_115850780	114663668	T T	TATATATA others(33): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0046 a0003c0003t0001g0046	1	2	0.5000	40	c.60+ others(59): Show c.60+220831_60+220832insTATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115334230	G G	GTTTTTTT others(33): Show GTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp2 NA20300.hp1 HG02280.hp1 HG03579.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0001 a0005c0008 a0001c0002 a0002c0001 a0005c0008	a0001c0002t0013 a0002c0001t0002 a0005c0008t0010 a0001c0002t0013 a0002c0001t0002 a0005c0008t0010	a0001c0002t0013g0024 a0002c0001t0002g0032 a0005c0008t0010g0036 a0001c0002t0013g0024 a0002c0001t0002g0032 a0005c0008t0010g0036	3	15	0.2000	40	c.176 others(57): Show c.176-9571_176-9570insTTTTTTTGTTTTTTTTTTTTTTGTTTTT TTTTTTTTTTTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154074115	A A	ATATATAG others(33): Show ATATATAGATATCTATATAGAGAGATATCTATATATCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00673.hp2 others(14): Show HG00558.hp1 HG00558.hp2 HG00673.hp2 HG01071.hp1 HG01433.hp1 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp2 HG02280.hp1 HG02922.hp2 HG03453.hp2 HG03579.hp2 NA18747.hp2 NA19043.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(10): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0001c0017 a0001c0018 a0001c0024 a0001c0027 a0002c0002 a0002c0005 a0002c0013 a0002c0014 a0002c0026	a0001c0001t0005 a0001c0001t0016 a0001c0003t0007 others(14): Show a0001c0001t0005 a0001c0001t0016 a0001c0003t0007 a0001c0007t0005 a0001c0007t0019 a0001c0010t0010 a0001c0017t0020 a0001c0018t0009 a0001c0024t0028 a0001c0027t0027 a0002c0002t0002 a0002c0002t0022 a0002c0002t0029 a0002c0005t0024 a0002c0013t0018 a0002c0014t0025 a0002c0026t0026	a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0003t0007g0024 others(14): Show a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0003t0007g0024 a0001c0007t0005g0038 a0001c0007t0019g0037 a0001c0010t0010g0009 a0001c0017t0020g0033 a0001c0018t0009g0023 a0001c0024t0028g0002 a0001c0027t0027g0007 a0002c0002t0002g0021 a0002c0002t0022g0030 a0002c0002t0029g0003 a0002c0005t0024g0031 a0002c0013t0018g0026 a0002c0014t0025g0029 a0002c0026t0026g0006	17	36	0.4722	40	c.243 others(59): Show c.243+21070_243+21071insGAGAGATATCTATATATCTCTCTATA TAGATATCTATATA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154313685	G G	GTGTGTGT others(33): Show GTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0023 a0001c0018t0009g0023	1	12	0.0833	40	c.244 others(61): Show c.244-132528_244-132527insGTGTGTGTATATATATATATATAT ATATATATATATATAT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154668197	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0030 a0002c0002t0022g0030	1	11	0.0909	40	c.681 others(57): Show c.681-1141_681-1140insTATATATATATATATATATATATATATA TATATATATATA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPPA5_chr6_73348063_73359276	73352494	A A	ACACCTGT others(33): Show ACACCTGTAATCCCAGCTACTCACCCGTAATCCCAGCTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	40	c.82 others(49): Show c.825_*826insAGTAGCTGGGATTACGGGTGAGTAGCTGGGATTACA GGTG	DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding		568		chr6	TogoVar
DPPA5_chr6_73348063_73359276	73352499	T T	TGTAATCC others(33): Show TGTAATCCCAGCTACTCACCCGTAATCCCAGCTACTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00673.hp2 others(61): Show HG00099.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02132.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp1 HG03654.hp1 NA18612.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18970.hp1 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp2 NA19003.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19067.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19087.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0003t0001g0004 a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0003t0001g0004	64	400	0.1600	40	c.82 others(49): Show c.820_*821insGGGTGAGTAGCTGGGATTACGGGTGAGTAGCTGGGA TTAC	DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding		563		chr6	TogoVar
DPT_chr1_168690468_168734206	168725215	A A	ATTCCTTT others(33): Show ATTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp2 HG01109.hp2 others(49): Show HG00609.hp1 HG00735.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01433.hp2 HG01884.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG03195.hp1 HG03486.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp1 NA18939.hp2 NA18951.hp1 NA18956.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19057.hp1 NA19060.hp1 NA19079.hp2 NA19083.hp2 NA19088.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0003c0007t0010	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0143 others(33): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0143 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0028 a0001c0001t0002g0173 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0258 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0292 a0001c0001t0004g0136 a0001c0001t0004g0172 a0001c0001t0004g0195 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0269 a0001c0001t0004g0296 a0001c0001t0011g0163 a0001c0001t0021g0305 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0002g0070 a0001c0002t0002g0088 a0001c0002t0004g0087 a0003c0007t0010g0050	52	175	0.2971	40	c.305 others(57): Show c.305+3654_305+3655insAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAA	DPT	ENSG00000143196.5	transcript	ENST00000367817.4	protein_coding	1/3			chr1	TogoVar
DPT_chr1_168690468_168734206	168725253	C C	CCTTTCCT others(33): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0155 a0001c0001t0008g0155	1	428	0.0023	40	c.305 others(57): Show c.305+3616_305+3617insTAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAG	DPT	ENSG00000143196.5	transcript	ENST00000367817.4	protein_coding	1/3			chr1	TogoVar
DPY19L1_chr7_34923881_35042485	35037018	A A	AAGGGGAG others(33): Show AAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGAAGGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	172	0.0058	40	c.298 others(53): Show c.298+78_298+79insCCCCTTCCTTCCCCTCTCCTCCCCTCCCCTCC CCTCCCCT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	1/21			chr7	TogoVar
DPY19L1_chr7_34923881_35042485	35041486	G G	GTAATTCC others(33): Show GTAATTCCTGTTGTTGAGGGCTTACTGTGTCTTTAGTAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	326	0.0031	40	c.-40 others(51): Show c.-4093_-4092insATCTACTAAAGACACAGTAAGCCCTCAACAACAG GAATTA	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding		4002		chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63571898	A A	AAAATCAG others(33): Show AAAATCAGTAATAAAGATAAGACATTATTCAGATCTACTAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	360	0.0028	40	c.190 others(59): Show c.1901-1042_1901-1041insATAGTAGATCTGAATAATGTCTTATC TTTATTACTGATTT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	19/21			chr12	TogoVar
DPY30_chr2_32018905_32044805	32019911	T T	TAAACATA others(33): Show TAAACATATACATATATTTGTACATATATATGTATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02258.hp2 HG03453.hp2 HG02155.hp2 HG02258.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0181 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0181	3	382	0.0079	40	c.42 others(51): Show c.4233_*4272dupTTACATATACATATATATGTACAAATATATGTAT ATGTTT	DPY30	ENSG00000162961.14	transcript	ENST00000342166.10	protein_coding		3993		chr2	TogoVar
DPYD_chr1_97072743_97926034	97221306	A A	ATGCAGAG others(33): Show ATGCAGAGACAAATTATAGAATAGAAATCAGGTAACATGGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03710.hp1 NA19043.hp1 HG02132.hp1 HG03710.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0002c0002t0002 a0003c0003t0002 a0001c0001t0003 a0002c0002t0002 a0003c0003t0002	a0001c0001t0003g0025 a0002c0002t0002g0005 a0003c0003t0002g0007 a0001c0001t0003g0025 a0002c0002t0002g0005 a0003c0003t0002g0007	3	50	0.0600	40	c.244 others(61): Show c.2442+13506_2442+13545dupACCATGTTACCTGATTTCTATTCT ATAATTTGTCTCTGCA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97376887	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	33	0.0303	40	c.197 others(59): Show c.1975-3244_1975-3243insTATATATATATATATATATATACACA CACACACACACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	15/22			chr1	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(33): Show TATATATATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03130.hp2 NA18906.hp1 HG02257.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0014 a0001c0002t0002 a0001c0002t0014	a0001c0002t0002g0076 a0001c0002t0002g0163 a0001c0002t0014g0050 a0001c0002t0002g0076 a0001c0002t0002g0163 a0001c0002t0014g0050	3	117	0.0256	40	c.669 others(55): Show c.669+382_669+383insTATATATATACACACACACACACACACACA CACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(33): Show TATATATATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19043.hp1 NA18961.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0026 a0001c0002t0002 a0001c0002t0026	a0001c0002t0002g0094 a0001c0002t0026g0133 a0001c0002t0002g0094 a0001c0002t0026g0133	2	116	0.0172	40	c.669 others(55): Show c.669+382_669+383insTATATATATATACACACACACACACACACA CACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(33): Show TATATATATATATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01361.hp1 HG01433.hp1 others(2): Show HG00642.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0028 others(1): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0028 a0001c0002t0029	a0001c0002t0002g0135 a0001c0002t0002g0142 a0001c0002t0006g0084 others(2): Show a0001c0002t0002g0135 a0001c0002t0002g0142 a0001c0002t0006g0084 a0001c0002t0028g0046 a0001c0002t0029g0139	5	119	0.0420	40	c.669 others(55): Show c.669+382_669+383insTATATATATATATACACACACACACACACA CACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(33): Show TATATATATATATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01928.hp1 NA18955.hp1 HG01257.hp2 HG01928.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0138 a0001c0002t0002g0223 a0001c0002t0002g0044 a0001c0002t0002g0138 a0001c0002t0002g0223	3	117	0.0256	40	c.669 others(55): Show c.669+382_669+383insTATATATATATATATACACACACACACACA CACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(33): Show TATATATATATATATATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01981.hp1 HG02486.hp1 others(1): Show HG00140.hp2 HG01981.hp1 HG02486.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0004 a0001c0002t0014 a0002c0003t0006 a0001c0002t0004 a0001c0002t0014 a0002c0003t0006	a0001c0002t0004g0095 a0001c0002t0004g0143 a0001c0002t0014g0037 others(1): Show a0001c0002t0004g0095 a0001c0002t0004g0143 a0001c0002t0014g0037 a0002c0003t0006g0093	4	118	0.0339	40	c.669 others(55): Show c.669+382_669+383insTATATATATATATATATACACACACACACA CACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18979.hp2 NA19085.hp2 HG00642.hp2 NA18979.hp2 NA19085.hp2	a0003 a0004 a0009 a0003 a0004 a0009	a0003c0005 a0004c0003 a0009c0013 a0003c0005 a0004c0003 a0009c0013	a0003c0005t0001 a0004c0003t0001 a0009c0013t0001 a0003c0005t0001 a0004c0003t0001 a0009c0013t0001	a0003c0005t0001g0296 a0004c0003t0001g0247 a0009c0013t0001g0198 a0003c0005t0001g0296 a0004c0003t0001g0247 a0009c0013t0001g0198	3	259	0.0116	40	c.889 others(55): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439934	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	375	0.0027	40	c.889 others(55): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATACATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01975.hp1 HG02145.hp2 others(1): Show HG01123.hp1 HG01975.hp1 HG02145.hp2 HG04204.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0001 a0001c0001t0001 a0007c0009t0001	a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0070 a0007c0009t0001g0177	4	258	0.0155	40	c.889 others(55): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATATACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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