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
TPRA1_chr3_127566232_127595733	127580768	C C	CTCTGGGT others(7): Show CTCTGGGTGTCCTCT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	424	0.0024	14	c.-17 others(29): Show c.-17-606_-17-605insAGAGGACACCCAGA	TPRA1	ENSG00000163870.16	transcript	ENST00000355552.8	protein_coding	1/10			chr3	TogoVar
TPRG1_chr3_189166971_189330304	189204947	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02965.hp1 NA18965.hp2 HG02738.hp2 HG02965.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0254 a0001c0001t0006g0269 a0001c0001t0009g0215 a0001c0001t0006g0254 a0001c0001t0006g0269 a0001c0001t0009g0215	3	115	0.0261	14	c.-9- others(29): Show c.-9-2412_-9-2399dupCACACACACACACA	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPRG1_chr3_189166971_189330304	189204947	T T	TCTCACAC others(7): Show TCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18960.hp1 NA19001.hp1 others(1): Show HG00558.hp1 NA18960.hp1 NA19001.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019	a0001c0001t0005g0232 a0001c0001t0006g0220 a0001c0001t0006g0229 others(1): Show a0001c0001t0005g0232 a0001c0001t0006g0220 a0001c0001t0006g0229 a0001c0001t0019g0219	4	116	0.0345	14	c.-9- others(29): Show c.-9-2428_-9-2427insTCACACACACACAC	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPRG1_chr3_189166971_189330304	189206808	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00733.hp1 others(31): Show HG00140.hp2 HG00609.hp2 HG00733.hp1 HG01070.hp2 HG01496.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18961.hp2 NA18965.hp2 NA18973.hp1 NA18985.hp1 NA18994.hp2 NA19002.hp2 NA19007.hp2 NA19079.hp1 NA19081.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022	a0001c0001t0001g0103 a0001c0001t0002g0041 a0001c0001t0002g0042 others(31): Show a0001c0001t0001g0103 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0068 a0001c0001t0004g0204 a0001c0001t0004g0216 a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0246 a0001c0001t0005g0196 a0001c0001t0005g0206 a0001c0001t0005g0217 a0001c0001t0005g0240 a0001c0001t0006g0189 a0001c0001t0006g0207 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0233 a0001c0001t0006g0239 a0001c0001t0006g0254 a0001c0001t0009g0205 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0009g0249 a0001c0001t0011g0056 a0001c0001t0018g0211 a0001c0001t0018g0224 a0001c0001t0019g0243 a0001c0001t0019g0248 a0001c0001t0020g0200 a0001c0001t0020g0237 a0001c0001t0020g0241 a0001c0001t0022g0244 a0001c0001t0022g0245	34	109	0.3119	14	c.-9- others(27): Show c.-9-560_-9-547dupTGTGTGTGTGTGTG	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPRG1_chr3_189166971_189330304	189231265	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	130	0.0077	14	c.303 others(31): Show c.303-7461_303-7448dupATATATATATATAT	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPRG1_chr3_189166971_189330304	189231943	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01109.hp1 others(1): Show HG00738.hp2 HG01081.hp1 HG01109.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0012 a0001c0002t0052 a0001c0001t0005 a0001c0001t0012 a0001c0002t0052	a0001c0001t0005g0261 a0001c0001t0005g0263 a0001c0001t0012g0025 others(1): Show a0001c0001t0005g0261 a0001c0001t0005g0263 a0001c0001t0012g0025 a0001c0002t0052g0262	4	126	0.0317	14	c.303 others(31): Show c.303-6772_303-6759dupGTGTGTGTGTGTGT	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPRG1_chr3_189166971_189330304	189250513	C C	CCCCCCCC others(7): Show CCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	260	0.0038	14	c.479 others(33): Show c.479+11608_479+11609insCCCCCCCCCGCCCC	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TPR_chr1_186306652_186380253	186375993	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02129.hp1 HG02080.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0231 a0001c0001t0001g0232	2	61	0.0328	14	c.-97 others(23): Show c.-979_-966dupACACACACACACAC	TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding		741		chr1	TogoVar
TPSD1_chr16_1251069_1264008	1253135	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp1 others(11): Show HG00099.hp2 HG00140.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01169.hp1 HG01943.hp1 HG02300.hp1 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03239.hp1 HG03540.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0020 a0003c0003t0003 a0003c0003t0007 others(2): Show a0001c0001t0020 a0003c0003t0003 a0003c0003t0007 a0004c0004t0006 a0005c0005t0005	a0001c0001t0020g0001 a0003c0003t0003g0003 a0003c0003t0007g0003 others(2): Show a0001c0001t0020g0001 a0003c0003t0003g0003 a0003c0003t0007g0003 a0004c0004t0006g0002 a0005c0005t0005g0004	14	22	0.6364	14	c.-31 others(25): Show c.-3146_-3145insTTTTTTTTTTTTTT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		2933		chr16	TogoVar
TPST1_chr7_66200334_66365443	66227028	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp2 HG02280.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0090 a0001c0001t0001g0095	2	132	0.0152	14	c.-10 others(35): Show c.-101-13287_-101-13274dupTTTTTTTTTTTTTT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66234400	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01361.hp2 HG01496.hp2 others(17): Show HG00609.hp2 HG01361.hp2 HG01496.hp2 HG02040.hp2 HG02055.hp1 HG02132.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03239.hp2 NA18906.hp2 NA18947.hp1 NA18953.hp1 NA19030.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0040 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0002g0020	20	114	0.1754	14	c.-10 others(33): Show c.-101-5907_-101-5894dupCACACACACACACA	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66234400	T T	TACACACA others(7): Show TACACACACACAGAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	95	0.0105	14	c.-10 others(33): Show c.-101-5914_-101-5913insGACACACACACACA	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66276365	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	143	0.0070	14	c.846 others(33): Show c.846-10143_846-10130dupATATATATATATAT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328859	G G	GCTCTCTC others(7): Show GCTCTCTCTCGCTCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0079 a0001c0001t0001g0081	2	272	0.0074	14	c.104 others(35): Show c.1045-23637_1045-23636insGCTCTCTCTCTCTC	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328886	C C	CTCTATAT others(7): Show CTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03492.hp1 NA19005.hp2 HG00558.hp2 HG03492.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0019	3	171	0.0175	14	c.104 others(35): Show c.1045-23618_1045-23617insCTATATATATATAT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328886	C C	CTCTCTAT others(7): Show CTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19002.hp1 NA19064.hp2 others(1): Show HG00280.hp1 NA19002.hp1 NA19064.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0127 others(1): Show a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0127 a0001c0001t0002g0137	4	172	0.0233	14	c.104 others(35): Show c.1045-23618_1045-23617insCTCTATATATATAT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328886	C C	CTCTCTCT others(7): Show CTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01496.hp2 HG02056.hp2 others(8): Show HG01169.hp2 HG01496.hp2 HG02056.hp2 HG02738.hp1 NA18944.hp1 NA18955.hp2 NA18971.hp1 NA18989.hp1 NA19011.hp2 NA19082.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0052 others(8): Show a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0002g0016 a0001c0001t0002g0039 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0126 a0001c0001t0002g0134 a0001c0001t0002g0146 a0001c0001t0002g0161	11	179	0.0615	14	c.104 others(35): Show c.1045-23618_1045-23617insCTCTCTATATATAT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328886	C C	CTCTCTCT others(7): Show CTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	169	0.0059	14	c.104 others(35): Show c.1045-23618_1045-23617insCTCTCTCTATATAT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328886	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03492.hp2 NA18960.hp2 others(3): Show HG02074.hp1 HG03492.hp2 NA18960.hp2 NA18972.hp2 NA19066.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0002g0011 a0001c0001t0002g0139 others(3): Show a0001c0001t0001g0072 a0001c0001t0002g0011 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0149	6	174	0.0345	14	c.104 others(35): Show c.1045-23618_1045-23617insCTCTCTCTCTATAT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328886	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	169	0.0059	14	c.104 others(35): Show c.1045-23618_1045-23617insCTCTCTCTCTCTAT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328906	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0007 a0001c0001t0002g0008	2	94	0.0213	14	c.104 others(35): Show c.1045-23598_1045-23597insATATATATATATTT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328906	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	93	0.0108	14	c.104 others(35): Show c.1045-23598_1045-23597insATATATATATTTTT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328906	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 NA19012.hp2 HG02723.hp2 HG02896.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0001g0097 a0001c0001t0002g0140 a0001c0001t0001g0032 a0001c0001t0001g0097 a0001c0001t0002g0140	3	95	0.0316	14	c.104 others(35): Show c.1045-23598_1045-23597insATATATATTTTTTT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST1_chr7_66200334_66365443	66328906	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	93	0.0108	14	c.104 others(35): Show c.1045-23598_1045-23597insATATATTTTTTTTT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST2_chr22_26516996_26595132	26530631	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp1 HG03540.hp2 others(1): Show HG02976.hp1 HG03209.hp1 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0040 a0001c0003t0021 a0001c0003t0039 others(1): Show a0001c0001t0040 a0001c0003t0021 a0001c0003t0039 a0001c0003t0043	a0001c0001t0040g0203 a0001c0003t0021g0268 a0001c0003t0039g0022 others(1): Show a0001c0001t0040g0203 a0001c0003t0021g0268 a0001c0003t0039g0022 a0001c0003t0043g0065	4	208	0.0192	14	c.109 others(33): Show c.1092+2063_1092+2064insTTTTTTTTTTTTTT	TPST2	ENSG00000128294.16	transcript	ENST00000338754.9	protein_coding	5/6			chr22	TogoVar
TPST2_chr22_26516996_26595132	26591890	T T	TACACACA others(7): Show TACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02622.hp1 HG03209.hp1 others(7): Show HG01261.hp1 HG02622.hp1 HG03209.hp1 HG03654.hp1 NA18943.hp2 NA18973.hp2 NA18994.hp2 NA19002.hp2 NA19062.hp1 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0003t0039 a0002c0002t0004 a0002c0002t0007 a0002c0013t0004	a0001c0001t0001g0027 a0001c0001t0006g0114 a0001c0001t0006g0120 others(7): Show a0001c0001t0001g0027 a0001c0001t0006g0114 a0001c0001t0006g0120 a0001c0001t0007g0080 a0001c0001t0007g0113 a0001c0001t0007g0122 a0001c0003t0039g0022 a0002c0002t0004g0118 a0002c0002t0007g0057 a0002c0013t0004g0029	10	45	0.2222	14	c.-20 others(25): Show c.-2012_-1999dupGTGTGTGTGTGTGT	TPST2	ENSG00000128294.16	transcript	ENST00000338754.9	protein_coding		1759		chr22	TogoVar
TPTE2_chr13_19417877_19566532	19437038	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0199 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0001g0199 a0001c0001t0002g0023 a0001c0001t0002g0024	3	28	0.1071	14	c.103 others(31): Show c.1036-746_1036-733dupGTGTGTGTGTGTGT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	17/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19443779	C C	CACACACA others(7): Show CACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	23	0.0435	14	c.974 others(31): Show c.974-5627_974-5626insCTGTGTGTGTGTGT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	16/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19453538	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01074.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0024 others(1): Show a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0030	4	9	0.4444	14	c.742 others(31): Show c.742-2327_742-2314dupATATATATATATAT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	13/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19506160	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	10	0.1000	14	c.-43 others(31): Show c.-43-2897_-43-2884dupAAAAAAAAAAAAAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19514592	A A	AGTGAGTG others(7): Show AGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	4	0.2500	14	c.-43 others(33): Show c.-43-11316_-43-11315insACACACACACTCAC	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19514592	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00673.hp1 others(13): Show HG00099.hp2 HG00323.hp1 HG00673.hp1 HG00738.hp1 HG01256.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG02129.hp1 HG02486.hp1 HG02922.hp1 HG06807.hp2 NA18944.hp2 NA18995.hp1 NA19063.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0147 others(13): Show a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0189 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0002g0031 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0094	16	19	0.8421	14	c.-43 others(33): Show c.-43-11329_-43-11316dupACACACACACACAC	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19547720	C C	CATACATA others(7): Show CATACATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG03098.hp1 others(1): Show HG02572.hp2 HG02615.hp2 HG03098.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0140 a0001c0001t0001g0221 a0001c0001t0001g0222 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0221 a0001c0001t0001g0222 a0007c0010t0001g0136	4	57	0.0702	14	c.-44 others(31): Show c.-44+4850_-44+4851insATATATATATGTAT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19565207	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18968.hp2 NA18940.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0135 a0001c0007t0001g0133 a0001c0001t0001g0135 a0001c0007t0001g0133	2	5	0.4000	14	c.-40 others(25): Show c.-4023_-4022insAAAAAAAAAAAAAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding		3676		chr13	TogoVar
TPTE_chr21_10516583_10610716	10527153	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0002 a0012c0024t0002	a0012c0024t0002g0120 a0012c0024t0002g0120	1	182	0.0055	14	c.-10 others(31): Show c.-101-201_-101-200insACACACACACACAC	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10592805	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01346.hp1 HG02280.hp2 others(3): Show HG01256.hp2 HG01346.hp1 HG02280.hp2 HG02698.hp2 HG03195.hp2 HG03491.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0006 a0001c0003 a0005c0006	a0001c0003t0002 a0005c0006t0002 a0001c0003t0002 a0005c0006t0002	a0001c0003t0002g0138 a0005c0006t0002g0131 a0005c0006t0002g0132 others(3): Show a0001c0003t0002g0138 a0005c0006t0002g0131 a0005c0006t0002g0132 a0005c0006t0002g0133 a0005c0006t0002g0142 a0005c0006t0002g0196	6	113	0.0531	14	c.117 others(31): Show c.1170+447_1170+460dupGTGTGTGTGTGTGT	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPX2_chr20_31734290_31806800	31776050	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp2 HG02698.hp1 others(1): Show HG00323.hp1 HG01192.hp2 HG02698.hp1 NA19065.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0001 a0001c0001t0001 a0004c0010t0001	a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0176 a0004c0010t0001g0087	4	71	0.0563	14	c.730 others(28): Show c.730+90_730+103dupTTTTTTTTTTTTTT	TPX2	ENSG00000088325.16	transcript	ENST00000300403.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TPX2_chr20_31734290_31806800	31786401	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19030.hp1 HG02559.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0026 a0001c0003t0003g0027 a0001c0003t0001g0026 a0001c0003t0003g0027	2	268	0.0075	14	c.141 others(33): Show c.1413+2493_1413+2494insGTTTTTTTTTTTTT	TPX2	ENSG00000088325.16	transcript	ENST00000300403.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TPX2_chr20_31734290_31806800	31786406	T T	TTTTTTTT others(7): Show TTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA21309.hp1 HG02055.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0024 a0001c0003t0001g0025	2	268	0.0075	14	c.141 others(33): Show c.1413+2493_1413+2494insGTTTTGTTTTTTTT	TPX2	ENSG00000088325.16	transcript	ENST00000300403.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
TRA2A_chr7_23499780_23536981	23517477	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03041.hp2 HG04199.hp2 HG01109.hp2 HG03041.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0097	3	200	0.0150	14	c.171 others(29): Show c.171-963_171-950dupTTTTTTTTTTTTTT	TRA2A	ENSG00000164548.12	transcript	ENST00000297071.9	protein_coding	2/7			chr7	TogoVar
TRA2A_chr7_23499780_23536981	23517503	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00621.hp2 others(19): Show HG00140.hp1 HG00423.hp1 HG00621.hp2 HG00673.hp2 HG01106.hp2 HG02015.hp1 HG02074.hp2 HG02148.hp2 HG02165.hp2 HG03486.hp1 HG03710.hp1 NA18941.hp2 NA18945.hp1 NA18954.hp1 NA18959.hp2 NA19005.hp1 NA19007.hp1 NA19057.hp1 NA19067.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0082 others(16): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0347 a0001c0001t0006g0031	22	321	0.0685	14	c.171 others(29): Show c.171-976_171-975insCTTTTTTTTTTTTT	TRA2A	ENSG00000164548.12	transcript	ENST00000297071.9	protein_coding	2/7			chr7	TogoVar
TRA2A_chr7_23499780_23536981	23517503	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01934.hp1 NA18968.hp1 HG01928.hp2 HG01934.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0296 a0001c0001t0001g0024 a0001c0001t0001g0296	3	302	0.0099	14	c.171 others(29): Show c.171-976_171-975insCTCTTTTTTTTTTT	TRA2A	ENSG00000164548.12	transcript	ENST00000297071.9	protein_coding	2/7			chr7	TogoVar
TRABD2B_chr1_47755528_48002385	47834577	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02572.hp1 HG02615.hp1 others(2): Show HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0002 a0001c0004t0029 a0001c0001t0003 a0001c0004t0002 a0001c0004t0029	a0001c0001t0003g0182 a0001c0004t0002g0011 a0001c0004t0002g0013 others(2): Show a0001c0001t0003g0182 a0001c0004t0002g0011 a0001c0004t0002g0013 a0001c0004t0002g0015 a0001c0004t0029g0014	5	148	0.0338	14	c.667 others(33): Show c.667-32959_667-32958insTGTGTGTGTGTGTG	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRABD2B_chr1_47755528_48002385	47846857	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG01515.hp1 others(11): Show HG01109.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01978.hp2 HG01981.hp2 NA18950.hp1 NA18955.hp1 NA18959.hp1 NA18980.hp2 NA18982.hp1 NA19009.hp1 NA19012.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 a0001c0001t0001 a0001c0001t0006 a0001c0001t0024	a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0194 others(11): Show a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0006g0074 a0001c0001t0024g0228	14	79	0.1772	14	c.667 others(33): Show c.667-45252_667-45239dupGTGTGTGTGTGTGT	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRABD2B_chr1_47755528_48002385	47846857	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02896.hp2 HG02897.hp2 others(3): Show HG01516.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp2 HG03225.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 others(1): Show a0001c0001 a0002c0003 a0002c0006 a0002c0016	a0001c0001t0001 a0001c0001t0013 a0002c0003t0039 others(3): Show a0001c0001t0001 a0001c0001t0013 a0002c0003t0039 a0002c0003t0043 a0002c0006t0005 a0002c0016t0016	a0001c0001t0001g0200 a0001c0001t0013g0180 a0002c0003t0039g0132 others(3): Show a0001c0001t0001g0200 a0001c0001t0013g0180 a0002c0003t0039g0132 a0002c0003t0043g0134 a0002c0006t0005g0111 a0002c0016t0016g0115	6	71	0.0845	14	c.667 others(33): Show c.667-45239_667-45238insGTGTGTGTGTGTAT	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRABD2B_chr1_47755528_48002385	47863372	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03688.hp1 HG04115.hp2 others(1): Show HG01884.hp2 HG03688.hp1 HG04115.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0065 a0001c0001t0006g0070 a0001c0001t0006g0077 others(1): Show a0001c0001t0006g0065 a0001c0001t0006g0070 a0001c0001t0006g0077 a0001c0001t0011g0080	4	28	0.1429	14	c.667 others(33): Show c.667-61767_667-61754dupTATATATATATATA	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRABD2B_chr1_47755528_48002385	47965194	C C	CGGGGGGC others(7): Show CGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18998.hp2 NA19066.hp1 HG02300.hp2 NA18998.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0009 a0001c0001t0017	a0001c0001t0009g0122 a0001c0001t0009g0128 a0001c0001t0017g0121 a0001c0001t0009g0122 a0001c0001t0009g0128 a0001c0001t0017g0121	3	239	0.0126	14	c.666 others(33): Show c.666+28826_666+28839dupCCCCCCCGCCCCCC	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRABD2B_chr1_47755528_48002385	47965200	G G	GCGGGGGG others(7): Show GCGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0073	1	239	0.0042	14	c.666 others(33): Show c.666+28833_666+28834insTCCCCCCCCCCCCG	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRABD2B_chr1_47755528_48002385	47965202	G G	GGGGGGGG others(7): Show GGGGGGGGGGGGGAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp1 HG01496.hp1 others(8): Show HG00438.hp1 HG01071.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp2 HG03688.hp1 HG04115.hp2 HG04204.hp2 NA18943.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0064 a0001c0001t0005g0062 a0001c0001t0005g0068 others(8): Show a0001c0001t0002g0064 a0001c0001t0005g0062 a0001c0001t0005g0068 a0001c0001t0006g0061 a0001c0001t0006g0065 a0001c0001t0006g0070 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0008g0066	11	207	0.0531	14	c.666 others(33): Show c.666+28831_666+28832insGTCCCCCCCCCCCC	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRABD2B_chr1_47755528_48002385	47965202	G G	GGGGGGGG others(7): Show GGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0129 a0001c0001t0017g0129	1	197	0.0051	14	c.666 others(33): Show c.666+28831_666+28832insGCCCCCCCCCCCCC	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar

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