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
GRTP1_chr13_113319163_113369130	113347281	G G	GATCTCTG others(23): Show GATCTCTGTGGCCGAGAGCAGACCCAGGAGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	288	0.0035	30	c.466 others(47): Show c.466-2323_466-2322insGCTCCTGGGTCTGCTCTCGGCCACAGAG AT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347381	C C	CGAGAGCG others(23): Show CGAGAGCGGACCTGGGAGGACCTCTGTGGCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	288	0.0035	30	c.466 others(47): Show c.466-2423_466-2422insTGCCACAGAGGTCCTCCCAGGTCCGCTC TC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347468	G G	GGCCAAGA others(23): Show GGCCAAGAACAGATCCGGGAGGACCTCTGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	288	0.0035	30	c.466 others(47): Show c.466-2510_466-2509insTTCAGAGGTCCTCCCGGATCTGTTCTTG GC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347594	A A	ACAGATCC others(23): Show ACAGATCCGGGAGGACCTCTGTGGCCGAGAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03239.hp2 NA18522.hp1 others(3): Show HG01975.hp1 HG03239.hp2 NA18522.hp1 NA18943.hp1 NA18954.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0187 a0001c0001t0001g0188 others(3): Show a0001c0001t0001g0105 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0001g0227 a0001c0001t0001g0259	6	288	0.0208	30	c.466 others(47): Show c.466-2636_466-2635insCTCTCGGCCACAGAGGTCCTCCCGGATC TG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347941	A A	AGGCCGAG others(23): Show AGGCCGAGAGCGGACCCGGGAGGACCTCTGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0097 a0002c0002t0001g0275 a0001c0001t0001g0097 a0002c0002t0001g0275	2	288	0.0069	30	c.465 others(47): Show c.465+2878_465+2907dupACAGAGGTCCTCCCGGGTCCGCTCTCGG CC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364451	T T	TGGGGGCG others(23): Show TGGGGGCGGGGCGGGGAATGGGCGGAGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	288	0.0035	30	c.-40 others(39): Show c.-401_-400insCACCCTCCGCCCATTCCCCGCCCCGCCCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		322		chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364457	C C	CGGGGCGG others(23): Show CGGGGCGGGGAATGGGCGGAGGGTGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0018 a0018	a0018c0019 a0018c0019	a0018c0019t0001 a0018c0019t0001	a0018c0019t0001g0279 a0018c0019t0001g0279	1	288	0.0035	30	c.-40 others(39): Show c.-407_-406insCGCCCCCACCCTCCGCCCATTCCCCGCCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		328		chr13	TogoVar
GSAP_chr7_77305751_77421349	77402616	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	352	0.0028	30	c.243 others(47): Show c.243+1942_243+1943insATTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GSAP	ENSG00000186088.16	transcript	ENST00000257626.12	protein_coding	3/30			chr7	TogoVar
GSDME_chr7_24693355_24762464	24717191	A A	AGTCCCTC others(23): Show AGTCCCTCTGCTGAGGGATCCTCTGCTGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp2 others(58): Show HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01192.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02738.hp2 HG02922.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03927.hp2 NA18939.hp2 NA18940.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18965.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18993.hp1 NA18998.hp2 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19055.hp2 NA19064.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0077 a0001c0001t0009g0170 others(50): Show a0001c0001t0001g0014 a0001c0001t0001g0077 a0001c0001t0009g0170 a0001c0001t0009g0171 a0001c0001t0009g0172 a0001c0002t0001g0003 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0297 a0001c0002t0001g0299 a0001c0007t0001g0010	61	410	0.1488	30	c.697 others(43): Show c.697+33_697+62dupCCCCAGCAGAGGATCCCTCAGCAGAGGGAC	GSDME	ENSG00000105928.16	transcript	ENST00000645220.1	protein_coding	5/9			chr7	TogoVar
GSDME_chr7_24693355_24762464	24717192	G G	GTCCCTCT others(23): Show GTCCCTCTGCTGAGGGATCCTCTGCTGGGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	410	0.0024	30	c.697 others(43): Show c.697+32_697+61dupTCCCCAGCAGAGGATCCCTCAGCAGAGGGA	GSDME	ENSG00000105928.16	transcript	ENST00000645220.1	protein_coding	5/9			chr7	TogoVar
GSE1_chr16_85608322_85681200	85627044	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03831.hp2 NA20752.hp1 HG02735.hp2 HG03831.hp2 NA20752.hp1	a0001 a0041 a0001 a0041	a0001c0002 a0041c0057 a0001c0002 a0041c0057	a0001c0002t0005 a0041c0057t0001 a0001c0002t0005 a0041c0057t0001	a0001c0002t0005g0081 a0001c0002t0005g0118 a0041c0057t0001g0117 a0001c0002t0005g0081 a0001c0002t0005g0118 a0041c0057t0001g0117	3	290	0.0103	30	c.8-6 others(43): Show c.8-6867_8-6838dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSG1L_chr16_27782528_28068714	27888927	G G	GATAGATA others(23): Show GATAGATATAGATATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18980.hp2 HG03486.hp1 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0034 a0001c0002t0001 a0001c0002t0034	a0001c0002t0001g0031 a0001c0002t0034g0235 a0001c0002t0001g0031 a0001c0002t0034g0235	2	240	0.0083	30	c.398 others(47): Show c.398-4319_398-4290dupATCTATATCTATATCTATATCTATATCT AT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27911266	G G	GCTCGCTC others(23): Show GCTCGCTCTCTCTCTCTCTCTCTCGCTCTCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	240	0.0042	30	c.398 others(49): Show c.398-26629_398-26628insAGAGAGCGAGAGAGAGAGAGAGAGAG CGAG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27911266	G G	GCTCTCTC others(23): Show GCTCTCTCTCTCTCTCTCTCTCTCGCTCTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0022 a0001c0006t0009g0022	1	240	0.0042	30	c.398 others(49): Show c.398-26629_398-26628insAGAGAGCGAGAGAGAGAGAGAGAGAG AGAG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979661	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03654.hp2 HG02698.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0015g0204 a0001c0002t0001g0044 a0001c0001t0015g0204 a0001c0002t0001g0044	2	240	0.0083	30	c.350 others(49): Show c.350-16459_350-16458insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979661	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	240	0.0042	30	c.350 others(49): Show c.350-16459_350-16458insCTCTCTTTCTTTCTTTCTTTCTTTCT TTCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	28030756	A A	AATGGGAT others(23): Show AATGGGATGGGATGGGATGGGATGGGATGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01168.hp2 HG02976.hp2 others(1): Show HG00099.hp2 HG01168.hp2 HG02976.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0015 a0001c0002t0002 a0001c0002t0007 a0001c0002t0015	a0001c0002t0002g0046 a0001c0002t0002g0137 a0001c0002t0007g0136 others(1): Show a0001c0002t0002g0046 a0001c0002t0002g0137 a0001c0002t0007g0136 a0001c0002t0015g0178	4	240	0.0167	30	c.349 others(49): Show c.349+32290_349+32319dupCCCATCCCATCCCATCCCATCCCATC CCAT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSK3B_chr3_119816321_120099447	119954222	G G	GAGAATAG others(23): Show GAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	300	0.0033	30	c.283 others(47): Show c.283-6901_283-6872dupATTCTATTCTATTCTATTCTATTCTATT CT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	2/10			chr3	TogoVar
GSS_chr20_34923432_34960806	34950013	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	352	0.0028	30	c.129 others(47): Show c.129+1710_129+1711insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	GSS	ENSG00000100983.12	transcript	ENST00000651619.1	protein_coding	2/12			chr20	TogoVar
GSTA1_chr6_52786371_52808816	52796543	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	436	0.0023	30	c.140 others(45): Show c.140-230_140-229insAAAAAAAAAAAAAATATATATATATATATA	GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding	3/6			chr6	TogoVar
GSTCD_chr4_105703784_105852725	105728680	T T	TATAGATA others(23): Show TATAGATATAGATATAGATATATAGATATAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	186	0.0054	30	c.114 others(47): Show c.1147-723_1147-722insGATATAGATATAGATATATAGATATAGA TA	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTCD_chr4_105703784_105852725	105728680	T T	TATAGATA others(23): Show TATAGATATAGATATATAGATATAGATATAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01192.hp2 others(14): Show HG00408.hp2 HG00438.hp2 HG01192.hp2 HG01361.hp1 HG02080.hp1 HG02155.hp1 HG03098.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp1 NA18942.hp1 NA18959.hp1 NA18962.hp2 NA19003.hp2 NA19072.hp2 NA19086.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0095 a0001c0001t0003g0102 others(13): Show a0001c0001t0003g0002 a0001c0001t0003g0095 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0140	17	186	0.0914	30	c.114 others(47): Show c.1147-723_1147-722insGATATAGATATATAGATATAGATATAGA TA	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTCD_chr4_105703784_105852725	105728680	T T	TATAGATA others(23): Show TATAGATATATAGATATAGATATAGATATAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	186	0.0054	30	c.114 others(47): Show c.1147-723_1147-722insGATATATAGATATAGATATAGATATAGA TA	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTO2_chr10_104264184_104309950	104293563	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19064.hp1 HG03225.hp2 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0021 a0001c0002t0001 a0001c0003t0021	a0001c0002t0001g0036 a0001c0003t0021g0239 a0001c0002t0001g0036 a0001c0003t0021g0239	2	300	0.0067	30	c.469 others(47): Show c.469-3993_469-3992insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTDC1_chr2_143933068_144337512	144108635	C C	CTCAATTA others(23): Show CTCAATTAAAAAAAAAAAAAAGAAAACCCCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02559.hp1 HG02622.hp1 others(9): Show HG00735.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG03195.hp1 HG03540.hp2 HG03579.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0014 others(2): Show a0001c0001 a0001c0003 a0001c0014 a0002c0005 a0006c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 a0001c0003t0003 a0001c0003t0018 a0001c0014t0003 a0002c0005t0001 a0006c0013t0045	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(9): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0005g0090 a0001c0001t0020g0080 a0001c0003t0003g0108 a0001c0003t0018g0084 a0001c0014t0003g0089 a0002c0005t0001g0029 a0006c0013t0045g0101	12	124	0.0968	30	c.521 others(49): Show c.521+33217_521+33246dupTGGGGTTTTCTTTTTTTTTTTTTTAA TTGA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144108635	C C	CTCAATTA others(23): Show CTCAATTAAAACAAAAAAAAAGAAAACCCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03453.hp2 HG02647.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0057 a0001c0001t0008g0104 a0001c0001t0008g0057 a0001c0001t0008g0104	2	124	0.0161	30	c.521 others(49): Show c.521+33246_521+33247insTGGGGTTTTCTTTTTTTTTGTTTTAA TTGA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144108646	A A	CAAAAAAA others(23): Show CAAAAAAAAAGAAAACCCCATCAATTAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG02055.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0056 a0001c0001t0008g0040 a0001c0001t0008g0056	2	124	0.0161	30	c.521 others(49): Show c.521+33236_521+33237insTTTTAATTGATGGGGTTTTCTTTTTT TTTG	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144133231	T T	TATATTTA others(23): Show TATATTTATACATTATATATAAATATAAATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0034 a0001c0001t0028g0034	1	124	0.0081	30	c.521 others(47): Show c.521+8650_521+8651insTATTTATATTTATATATAATGTATAAAT AT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144136395	A A	AAAAGGAA others(23): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02109.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0005 a0001c0001t0024	a0001c0001t0005g0090 a0001c0001t0024g0123 a0001c0001t0005g0090 a0001c0001t0024g0123	2	124	0.0161	30	c.521 others(47): Show c.521+5457_521+5486dupCCTTTCCTTTCCTTTCCTTTCCTTTCCT TT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144262978	A A	AGAGGGGA others(23): Show AGAGGGGAGGGGAGGGGAAGGGAGGACAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03540.hp2 HG02976.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0003g0107 a0001c0003t0003g0108	2	124	0.0161	30	c.-15 others(51): Show c.-150-27271_-150-27242dupCTCTGTCCTCCCTTCCCCTCCCCT CCCCTC	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	1/11			chr2	TogoVar
GTF2A1_chr14_81170452_81225959	81211875	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0059 a0001c0001t0015g0059	1	350	0.0029	30	c.132 others(47): Show c.132+4508_132+4537dupTATATATATATATATATATATATATATA TA	GTF2A1	ENSG00000165417.12	transcript	ENST00000553612.6	protein_coding	2/8			chr14	TogoVar
GTF2A2_chr15_59633062_59662515	59639076	C C	CTCTTCAA others(23): Show CTCTTCAAAAGCAATGAATAACAGAAGATGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0119 a0001c0001t0014g0119	1	436	0.0023	30	c.26 others(37): Show c.26_*55dupCCATCTTCTGTTATTCATTGCTTTTGAAGA	GTF2A2	ENSG00000140307.11	transcript	ENST00000396060.7	protein_coding	5/5	55		chr15	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp2 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0067 a0001c0001t0001g0069	2	210	0.0095	30	c.305 others(49): Show c.305-16199_305-16198insAAAAAAAAAATATATATATATATATA TATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	210	0.0048	30	c.305 others(49): Show c.305-16198_305-16169dupTATATATATATATATATATATATATA TATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTAT others(23): Show GTGTGTATATATGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18963.hp1 NA19065.hp2 others(1): Show NA18945.hp2 NA18963.hp1 NA19065.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0047 a0001c0001t0005 a0001c0001t0021 a0001c0001t0047	a0001c0001t0005g0187 a0001c0001t0021g0136 a0001c0001t0021g0137 others(1): Show a0001c0001t0005g0187 a0001c0001t0021g0136 a0001c0001t0021g0137 a0001c0001t0047g0141	4	384	0.0104	30	c.35+ others(45): Show c.35+4507_35+4508insGTGTATATATGTGTGTGTGTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0105 a0001c0001t0043 a0001c0001t0105	a0001c0001t0043g0009 a0001c0001t0105g0009 a0001c0001t0043g0009 a0001c0001t0105g0009	3	384	0.0078	30	c.35+ others(45): Show c.35+4507_35+4508insGTGTGTGTATATGTGTGTGTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG03471.hp2 HG02630.hp2 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0011g0061 a0001c0001t0011g0058 a0001c0001t0011g0059 a0001c0001t0011g0061	3	384	0.0078	30	c.35+ others(45): Show c.35+4507_35+4508insGTGTGTGTGTGTATGTGTGTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	174	0.0058	30	c.-5- others(45): Show c.-5-9024_-5-9023insAAAAAAAAAATATATATATATATATATATA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF3C1_chr16_27455613_27554913	27525185	T T	TAAAAGAA others(23): Show TAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp1 HG03130.hp2 others(2): Show HG01109.hp1 HG02922.hp1 HG03130.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0031 a0001c0001t0003g0002 a0001c0001t0003g0031	5	220	0.0227	30	c.973 others(47): Show c.973+3412_973+3413insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TT	GTF3C1	ENSG00000077235.18	transcript	ENST00000356183.9	protein_coding	6/36			chr16	TogoVar
GTF3C2_chr2_27320854_27361764	27358755	T T	TCTCTACC others(23): Show TCTCTACCTCTCTACCTCTCTACCTCTCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	286	0.0035	30	c.-20 others(41): Show c.-2042_-2041insGTAGAGAGGTAGAGAGGTAGAGAGGTAGAG	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding		1992		chr2	TogoVar
GUCA1C_chr3_108902792_108958879	108912122	A A	AATAATAA others(23): Show AATAATAATAATAATAATAATAATAATAATC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19087.hp1 NA18944.hp1 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0045 a0003c0003t0001g0054 a0002c0002t0001g0045 a0003c0003t0001g0054	2	374	0.0054	30	c.443 others(47): Show c.443-3914_443-3913insGATTATTATTATTATTATTATTATTATT AT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCY1A2_chr11_106669019_107023476	106909355	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02451.hp2 NA18522.hp2 others(1): Show HG00099.hp2 HG02451.hp2 NA18522.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0052 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0052 a0001c0002t0002	a0001c0001t0002g0106 a0001c0001t0003g0063 a0001c0001t0052g0118 others(1): Show a0001c0001t0002g0106 a0001c0001t0003g0063 a0001c0001t0052g0118 a0001c0002t0002g0201	4	256	0.0156	30	c.120 others(51): Show c.1206+30075_1206+30104dupCACACACACACACACACACACACA CACACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GXYLT1_chr12_42076845_42149874	42098760	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00733.hp2 HG01168.hp2 others(3): Show HG00609.hp1 HG00733.hp2 HG01168.hp2 HG01433.hp2 HG02055.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0002t0003 a0001c0002t0047 others(1): Show a0001c0001t0009 a0001c0002t0003 a0001c0002t0047 a0001c0003t0001	a0001c0001t0009g0254 a0001c0002t0003g0101 a0001c0002t0003g0160 others(3): Show a0001c0001t0009g0254 a0001c0002t0003g0101 a0001c0002t0003g0160 a0001c0002t0047g0185 a0001c0003t0001g0148 a0001c0003t0001g0219	6	398	0.0151	30	c.865 others(45): Show c.865-728_865-727insATATATATATATATATATATATATATATAT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	5/7			chr12	TogoVar
GYG1_chr3_148986540_149036775	149022498	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0041 a0001c0003t0041	a0001c0003t0041g0339 a0001c0003t0041g0339	1	414	0.0024	30	c.609 others(47): Show c.609-1537_609-1536insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCTC others(23): Show CCCTCCTCCCTCCTCCCTCCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	422	0.0024	30	c.-46 others(41): Show c.-4694_-4693insCCTCCTCCCTCCTCCCTCCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H2AC18_chr1_149837218_149847750	149837562	C C	CAGATGGG others(23): Show CAGATGGGGCTAATGAAGGTGTCTTCCAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	320	0.0031	30	c.47 others(41): Show c.4714_*4743dupTCCTGGAAGACACCTTCATTAGCCCCATCT	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		4655		chr1	TogoVar
H2AC18_chr1_149837218_149847750	149842086	A A	ACCCCGCC others(23): Show ACCCCGCCCCGCCCCGCCCCGCCCCGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	320	0.0031	30	c.21 others(39): Show c.219_*220insCGGGGCGGGGCGGGGCGGGGCGGGGCGGGG	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		131		chr1	TogoVar
H2AC18_chr1_149837218_149847750	149842097	C C	CCCCGTCC others(23): Show CCCCGTCCCGTCCCGTCCCGTCCCGTCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	320	0.0031	30	c.20 others(39): Show c.208_*209insACGGGACGGGACGGGACGGGACGGGACGGG	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		120		chr1	TogoVar
H2AC18_chr1_149837218_149847750	149842102	C C	CCCCGCCC others(23): Show CCCCGCCCCGCCCCGCCCCGCCCCGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	320	0.0031	30	c.20 others(39): Show c.203_*204insACGGGGCGGGGCGGGGCGGGGCGGGGCGGG	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		115		chr1	TogoVar
H2AC19_chr1_149846061_149856594	149856219	T T	TCCCCATC others(23): Show TCCCCATCTTCCTGGAAGACACCTTCATTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	328	0.0031	30	c.47 others(41): Show c.4713_*4714insCCCCATCTTCCTGGAAGACACCTTCATTAG	H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding		4626		chr1	TogoVar

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