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
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(291): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCC CCTCCCTCTCCCTTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCC CCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCTC CCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01123.hp2 others(21): Show HG00140.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG02080.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG04228.hp1 NA18939.hp1 NA18952.hp2 NA18974.hp2 NA18982.hp1 NA18985.hp1 NA18991.hp1 NA19002.hp1 NA19081.hp1 NA19090.hp1 NA19091.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0002c0035 a0003c0015 a0004c0025 a0004c0026 a0004c0027 a0004c0069 a0008c0048	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0005t0001 a0001c0005t0003 a0001c0009t0001 a0001c0010t0001 a0001c0010t0005 a0001c0011t0001 a0002c0035t0007 a0003c0015t0001 a0004c0025t0001 a0004c0026t0016 a0004c0027t0001 a0004c0069t0004 a0008c0048t0001	a0001c0001t0001g0256 a0001c0001t0001g0268 a0001c0001t0001g0270 others(21): Show a0001c0001t0001g0256 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0275 a0001c0002t0006g0272 a0001c0003t0001g0044 a0001c0005t0001g0261 a0001c0005t0001g0263 a0001c0005t0003g0252 a0001c0009t0001g0269 a0001c0009t0001g0271 a0001c0010t0001g0276 a0001c0010t0005g0253 a0001c0011t0001g0267 a0002c0035t0007g0017 a0003c0015t0001g0313 a0004c0025t0001g0324 a0004c0026t0016g0332 a0004c0027t0001g0333 a0004c0069t0004g0334 a0008c0048t0001g0290	24	30	0.8000	298	c.-37 others(309): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGG CAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PIM1_chr6_37165152_37180428	37179382	A A	ATATTATA others(291): Show ATATTATACATAAAATATATATAATATATATTATATATAATATATATAAT ATATATTATATATTATATATTATATATTATATATATTATATATGATATAT ATTATATATAATATATTATATAAAATATATAATATATAATATATATTATA TTATATATTATATATAATATAATATATATTATATATTATATTATATATTA TATATAATATAATATATATTATATATTATATTATATATAATATATAATAT AATATATATTATATATTATATTATATATAATATATAATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	411	0.0024	298	c.52 others(309): Show c.5291_*5292insTATTATACATAAAATATATATAATATATATTATA TATAATATATATAATATATATTATATATTATATATTATATATTATATATA TTATATATGATATATATTATATATAATATATTATATAAAATATATAATAT ATAATATATATTATATTATATATTATATATAATATAATATATATTATATA TTATATTATATATTATATATAATATAATATATATTATATATTATATTATA TATAATATATAATATAATATATATTATATATTATATTATATATAATATAT AATATAATATATAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3955		chr6	TogoVar
PITPNC1_chr17_67372281_67702256	67550441	G G	GAAAAGAC others(291): Show GAAAAGACAGGCAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTA GCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01169.hp1 HG00323.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0064 a0001c0001t0011 a0001c0001t0064	a0001c0001t0011g0165 a0001c0001t0064g0035 a0001c0001t0011g0165 a0001c0001t0064g0035	2	203	0.0099	298	c.198 others(315): Show c.198-1801_198-1800insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAA AAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAGACAGGCAAGG	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(291): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATAATATATAT TATATATAAAAATATATTTATATATATTATATTATATATAATATATTATA TATATTATATTATATATAATATATTATATATATTATATTATATATAATAT ATTATATATATTATATTATATATAATATATTATATATATTATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02257.hp2 HG03225.hp1 HG00642.hp1 HG02257.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	33	0.0909	298	c.-50 others(309): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATAATATATATAAAT ATATTTTTATATATAATATATATTATATTATATATAAATATATATTATAT ATAATATATATTATATTATATATAATATATTTTTATATAAATATATATTA TATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
POLG_chr15_89311320_89339824	89325037	A A	AGAGTGAG others(291): Show AGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02145.hp2 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0072 a0002c0002t0001g0073	2	278	0.0072	298	c.194 others(315): Show c.1949+412_1949+413insACTCACTCTCTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCAC TCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCTCTCACTC ACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTC TCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTC TCTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCAC TCACTCTCTCACTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLR2M_chr15_57701714_57722557	57702490	A A	ACAGGAAA others(291): Show ACAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03486.hp2 HG03471.hp1 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0006 a0002c0003t0003g0006	2	394	0.0051	298	c.-43 others(309): Show c.-4353_-4352insCAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTG	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding		4223		chr15	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(291): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCT TTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCC TTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02080.hp1 NA18959.hp1 others(2): Show HG01943.hp2 HG02080.hp1 NA18959.hp1 NA18998.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0098 a0001c0002t0002g0133 others(2): Show a0001c0002t0002g0085 a0001c0002t0002g0098 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0151	5	190	0.0263	298	c.467 others(311): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCT TCTTTCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP3CC_chr8_22436078_22546125	22472245	T T	TAAAAGAC others(291): Show TAAAAGACAAGTACACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	305	0.0033	298	c.50- others(313): Show c.50-2695_50-2694insCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGACAAGTACA	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRIMPOL_chr4_184644738_184699952	184676908	C C	CCTTCCCC others(291): Show CCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCCTTCCCTTCCCCCTTTCT TTCCTTTCCCGTCCCCCCCCCTTCCCTTTCTCCTTCCCTTCCCTTTCCTT CCCCCTTCCCTTCCCTTTCCTTCCCCCTTCCCTTCCCTTTCTTTCTCCCT TCCCTTCCCCCTTCCCTTCCCTTCCCCCTTCCCTTCCCTTCCCCCTTCCC TTCCCTTTTCCCTTCCCTTCCCCCTTTCCTACCCCATTCTTTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCCCTTCCCTTCTCCTCCCCCTTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	326	0.0031	298	c.845 others(315): Show c.845-1311_845-1310insTTCTCCCTTCCCTTCCCCCTTCCCTTCC CCCTTTCTTTCCTTTCCCGTCCCCCCCCCTTCCCTTTCTCCTTCCCTTCC CTTTCCTTCCCCCTTCCCTTCCCTTTCCTTCCCCCTTCCCTTCCCTTTCT TTCTCCCTTCCCTTCCCCCTTCCCTTCCCTTCCCCCTTCCCTTCCCTTCC CCCTTCCCTTCCCTTTTCCCTTCCCTTCCCCCTTTCCTACCCCATTCTTT TCCCTTCCCTTCCCTTCCCTTCCCTTCCCCCTTCCCTTCTCCTCCCCCTT CCCCTCTCTTCCCCCTTCCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRPF31_chr19_54110754_54136713	54133800	C C	CCCTCCCT others(291): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTGTCTC CACCTCCCCTCCCTCTGTCCCTCCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	208	0.0048	298	c.23 others(309): Show c.2368_*2369insCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTC CACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCCTGTCTCCAC CTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2088		chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76716027	A A	AAAGAAGA others(291): Show AAAGAAGACACACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18950.hp2 NA19007.hp2 NA18942.hp1 NA18950.hp2 NA19007.hp2	a0005 a0010 a0005 a0010	a0005c0007 a0010c0013 a0005c0007 a0010c0013	a0005c0007t0001 a0010c0013t0001 a0005c0007t0001 a0010c0013t0001	a0005c0007t0001g0020 a0005c0007t0001g0054 a0010c0013t0001g0068 a0005c0007t0001g0020 a0005c0007t0001g0054 a0010c0013t0001g0068	3	229	0.0131	298	c.757 others(315): Show c.757-2307_757-2306insGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAAATGTGTGTCTTCTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	494025	T T	TCCCGAGT others(291): Show TCCCGAGTAGCTGGGACTACAGGCGCCCATCACCACACCTGGCTAACTTT TGTATTTTTAGTAGACACGGGGTTTCACCATGTCTCAATCTCCGGACCTC GTGATCCGCCCGCCTTGACCCCCCAAAGTGCTGGGATTACAGGCTGAGCC ACTGCACCCAGCCTGCCTGGAGGTATATTATCTTTTTCTTTTTTGAGACA GAGTCTCGATCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCTCGGCTC ACTGCAACCTCTGCCTCCCGGGTTCACTCCATTCTCCTGCCTCAGCCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0293 a0002c0003t0002g0293	1	294	0.0034	298	c.126 others(317): Show c.1266-2732_1266-2731insGGGGTTTCACCATGTCTCAATCTCCG GACCTCGTGATCCGCCCGCCTTGACCCCCCAAAGTGCTGGGATTACAGGC TGAGCCACTGCACCCAGCCTGCCTGGAGGTATATTATCTTTTTCTTTTTT GAGACAGAGTCTCGATCTGTCACCCAGGCTGGAGTGCGGTGGTGCGATCT CGGCTCACTGCAACCTCTGCCTCCCGGGTTCACTCCATTCTCCTGCCTCA GCCTCCCCGAGTAGCTGGGACTACAGGCGCCCATCACCACACCTGGCTAA CTTTTGTATTTTTAGTAGACAC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCTCACCT others(291): Show CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp1 NA19240.hp1 HG01109.hp2 HG02976.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0041 a0001c0001t0043 a0001c0001t0011 a0001c0001t0041 a0001c0001t0043	a0001c0001t0011g0079 a0001c0001t0041g0078 a0001c0001t0043g0085 a0001c0001t0011g0079 a0001c0001t0041g0078 a0001c0001t0043g0085	3	89	0.0337	298	c.139 others(317): Show c.1396-1105_1396-1104insTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCT CCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
REEP6_chr19_1486181_1502927	1500842	A A	AGGGAGGA others(291): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAG GGGAGGGGGGAGGAGGGAGGAGGGGAGGGAGGAGAGGGGGAGGGGGAGAG GGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGA AGGGGAGGGGGAGGAGGGGAGGAGGGGGGGAGGAGGGGAAGGGGAGGGGG AGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGG GCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0045 a0001c0006t0006g0045	1	286	0.0035	298	c.36 others(309): Show c.3631_*3632insGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGAGGAGA GGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGG GAGGGGGAGGAGGGAAGGGGAGGGGGAGGAGGGGAGGAGGGGGGGAGGAG GGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG GGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGG GAGGGGGGGAGGAG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2916		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500842	A A	AGGGAGGA others(291): Show AGGGAGGAGGGGAAGAGGGGGGGGGAGGGGGAGGAGGGGAGGGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGGG AGGAGGGGAGGGGGGAGGAGGGAGAGGGAGGAGGGGAGGGGGAGAGGGGG GAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGG GGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAG GGGAAGGGGAGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	286	0.0035	298	c.36 others(309): Show c.3631_*3632insGGGAGGAGGGGAAGAGGGGGGGGGAGGGGGAGGA GGGGAGGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG AGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGAGGGAGGAGGG GAGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGG AAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGA GGGGAGGGGGAGGAGGGGAAGGGGAGGGGAGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2916		chr19	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(291): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03516.hp2 NA19043.hp1 HG02723.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0127	3	150	0.0200	298	c.899 others(313): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SAMD10_chr20_63969116_63984642	63970948	T T	TTTTCTCT others(291): Show TTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCTCCCTTCCTTC TCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCTTTCCTTCCTT CTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCTC CCTTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCTT TCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCT CCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03927.hp2 HG03942.hp2 others(1): Show HG02738.hp2 HG03927.hp2 HG03942.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0005 a0001c0004t0005 a0001c0003t0005 a0001c0004t0005	a0001c0003t0005g0042 a0001c0003t0005g0043 a0001c0004t0005g0037 others(1): Show a0001c0003t0005g0042 a0001c0003t0005g0043 a0001c0004t0005g0037 a0001c0004t0005g0044	4	338	0.0118	298	c.45 others(309): Show c.4561_*4562insGAAGGGAGGGAGGGAGGGAAGGGAAGGAAGAGAA GGAAGGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAAGAGAAAAGGA AGGAAGAAGGAAGGAAAGGAAGGAAGAAGGGAGGGAGGGAGGGAAGGGAA GGAAGAGAAGGAAGGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAAG AGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAGAAGGGAGGGAGGGAG GGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAGGGAGGGAAGAGAAGA GAAGGAAAGAGAAA	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3167		chr20	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(291): Show ATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTATAAACAGTGCAA ACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCA GTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAAC AGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGT ATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAG TGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	16	0.0625	298	c.21+ others(313): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTATACTGCACTGTTTACACTGC ACTGTTTATACTGCACTGTTTGCACTGTTTATACTGTTTATACTGCACTG TTTACACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(291): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	259	0.0039	298	c.166 others(315): Show c.1662+421_1662+422insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288493	T T	TCCCGTGT others(291): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0019	1	256	0.0039	298	c.166 others(315): Show c.1662+469_1662+470insTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289225	C C	CCGTGTCT others(291): Show CCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0111 a0002c0003t0001g0111	1	271	0.0037	298	c.166 others(317): Show c.1663-1045_1663-1044insGTGTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289671	C C	CCGTGTCT others(291): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0001 a0024c0037t0001	a0024c0037t0001g0094 a0024c0037t0001g0094	1	267	0.0037	298	c.166 others(315): Show c.1663-599_1663-598insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(291): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0013 a0001c0038t0013	a0001c0038t0013g0038 a0001c0038t0013g0038	1	63	0.0159	298	c.199 others(317): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(291): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCCTAT ATATATATTCCATATATATATATTCCCTATATATATATTCCCTATATATA TATTCCATATATATATATTCCATATATATATTCCATATATATATATTCCA TATATATATATTTCATATATATATATTCCATATATATATTCCATATATAT ATTCCATATATATATATATTCCATATATATATATATATTCCATATATATA TATTCCATATATATATATATATATATTCCATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	39	0.0256	298	c.115 others(315): Show c.115-2706_115-2705insATATATATATATATATATATGGAATATA TATATATATATATATGGAATATATATATATGGAATATATATATATATATG GAATATATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATATGAAATATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGAAT ATATATATATGGAATATATATATAGGGAATATATATATATGGAATATATA TATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SFMBT2_chr10_7153624_7416034	7378215	T T	TGGATGGA others(291): Show TGGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGG TGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGTGT GATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTG ATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	26	0.0385	298	c.100 others(315): Show c.100+3583_100+3584insCACCCATCCACACATACACCCACACACA CCCACACTCACACCCATCCATCACCCATCCACACATACACCCACACACAC CCACACTCACACCCATCCATCACACATCCACACATACACCCACACACACC CACACTCACACCCATCCATCCACCCATCCACACATACACCCACACACACC CACACTCACACCCATCCATCCACCCATCCACACATACACCCACACACACC CACACTCACACCCATCCATCACCCATCCACACATACACCCACACACACCC ACACTCACACCCATCCATCC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20			chr10	TogoVar
SGSM2_chr17_2332501_2386054	2355883	T T	TGGGGGAA others(291): Show TGGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGT TGGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	340	0.0029	298	c.134 others(315): Show c.134-5750_134-5749insGAAGGGGCCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGAGTTGGGGGCAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAAT CGGGGTGTAAGAGTTGGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC3_chr9_89000771_89183818	89040229	C C	CATCATCA others(291): Show CATCATCAACATCACCATCATCATCACTGTCACCACCACCACTATCATCA GCAGCAGCAGCAGCAGCATCATCACCATCACCACCATTGTCACCATCACC ATCAGCACCATCATCACCATCACCATCAGCACCATCATCACTATCACCAT CAGCACCATCATCACTATCACTACCATCACCATCTTTCTACCACCATCAT CATCATCATCACCATCATCACCATCACCACCATCATCACCTCACCATTAT CACCATCACCATCAGCACCATCATCACTATTACTACCATCACCATCATT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03098.hp2 others(2): Show HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03654.hp2 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0009 a0001c0004t0001 a0001c0004t0009	a0001c0004t0001g0034 a0001c0004t0009g0178 a0001c0004t0009g0179 others(2): Show a0001c0004t0001g0034 a0001c0004t0009g0178 a0001c0004t0009g0179 a0001c0004t0009g0180 a0001c0004t0009g0181	5	122	0.0410	298	c.136 others(317): Show c.1360+1796_1360+1797insAATGATGGTGATGGTAGTAATAGTGA TGATGGTGCTGATGGTGATGGTGATAATGGTGAGGTGATGATGGTGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGGTAGAAAGATGGTGATGG TAGTGATAGTGATGATGGTGCTGATGGTGATAGTGATGATGGTGCTGATG GTGATGGTGATGATGGTGCTGATGGTGATGGTGACAATGGTGGTGATGGT GATGATGCTGCTGCTGCTGCTGCTGATGATAGTGGTGGTGGTGACAGTGA TGATGATGGTGATGTTGATGAT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	10/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89040229	C C	CATCATCA others(291): Show CATCATCAACATCACCATCATCATCACTGTCACCACCACCACTATCATCA TCAGCAGCAGCAGCAGCATCATCACCATCACCACCATTGTCACCATCACC ATCAGCACCATCATCACCATCACCATCAGCACCATCATCACTATCACCAT CAGCACCATCATCACTATCACTACCATCACCATCTTTCTACCACCATCAT CATCATCATCACCATCATCACCATCACCACCATCATCACCCCACCATTAT CACCATCACCATCAGCACCATCATCACTATTACTACCATCACCATCATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01071.hp2 others(11): Show HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG01993.hp1 HG02148.hp2 HG02300.hp1 HG03209.hp2 HG03704.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010	a0001c0001t0004g0068 a0001c0003t0001g0009 a0001c0003t0001g0012 others(10): Show a0001c0001t0004g0068 a0001c0003t0001g0009 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0002g0002 a0001c0003t0002g0019 a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0014 a0001c0003t0004g0021 a0001c0003t0010g0010	14	131	0.1069	298	c.136 others(317): Show c.1360+1796_1360+1797insAATGATGGTGATGGTAGTAATAGTGA TGATGGTGCTGATGGTGATGGTGATAATGGTGGGGTGATGATGGTGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGGTAGAAAGATGGTGATGG TAGTGATAGTGATGATGGTGCTGATGGTGATAGTGATGATGGTGCTGATG GTGATGGTGATGATGGTGCTGATGGTGATGGTGACAATGGTGGTGATGGT GATGATGCTGCTGCTGCTGCTGATGATGATAGTGGTGGTGGTGACAGTGA TGATGATGGTGATGTTGATGAT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	10/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89040229	C C	CATCATCA others(291): Show CATCATCAACATCACCATCATCATCACTGTCACCACCACCACTATCATCA TCATCAGCAGCAGCAGCATCATCACCATCACCACCATTGTCACCATCACC ATCAGCACCATCATCACCATCACCATCAGCACCATCATCACTATCACCAT CAGCACCATCATCACTATCACTACCATCACCATCTTTCTACCACCATCAT CATCATCATCACCATCATCACCATCACCACCATCATCACCTCACCATTAT CACCATCACCATCAGCACCATCATCACTATTACTACCATCACCATCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp2 HG02886.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0023 a0001c0003t0047 a0001c0001t0023 a0001c0003t0047	a0001c0001t0023g0024 a0001c0003t0047g0007 a0001c0001t0023g0024 a0001c0003t0047g0007	2	119	0.0168	298	c.136 others(317): Show c.1360+1796_1360+1797insAATGATGGTGATGGTAGTAATAGTGA TGATGGTGCTGATGGTGATGGTGATAATGGTGAGGTGATGATGGTGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGGTAGAAAGATGGTGATGG TAGTGATAGTGATGATGGTGCTGATGGTGATAGTGATGATGGTGCTGATG GTGATGGTGATGATGGTGCTGATGGTGATGGTGACAATGGTGGTGATGGT GATGATGCTGCTGCTGCTGATGATGATGATAGTGGTGGTGGTGACAGTGA TGATGATGGTGATGTTGATGAT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	10/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89040229	C C	CATCATCA others(291): Show CATCATCAACATCACCATCATCATCACTGTCACCACCACCACTATCATCA TCATCAGCAGCAGCAGCATCATCACCATCACCACCATTGTCACCATCACC ATCAGCACCATCATCACCATCACCATCAGCACCATCATCACTATCACCAT CAGCACCATCATCACTATCACTACCATCACCATCTTTCTACCACCATCAT CATCATCATCACTATCATCACCATCACCACCATCATCACCTCACCATTAT CACCATCACCATCAGCACCATCATCACTATTACTACCATCACCATCATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00639.hp1 others(7): Show HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00738.hp2 HG01433.hp1 HG01496.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0006t0004 a0001c0006t0032	a0001c0001t0001g0005 a0001c0001t0001g0161 a0001c0001t0001g0162 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0015g0159 a0001c0006t0004g0168 a0001c0006t0032g0167	10	127	0.0787	298	c.136 others(317): Show c.1360+1796_1360+1797insAATGATGGTGATGGTAGTAATAGTGA TGATGGTGCTGATGGTGATGGTGATAATGGTGAGGTGATGATGGTGGTGA TGGTGATGATAGTGATGATGATGATGATGGTGGTAGAAAGATGGTGATGG TAGTGATAGTGATGATGGTGCTGATGGTGATAGTGATGATGGTGCTGATG GTGATGGTGATGATGGTGCTGATGGTGATGGTGACAATGGTGGTGATGGT GATGATGCTGCTGCTGCTGATGATGATGATAGTGGTGGTGGTGACAGTGA TGATGATGGTGATGTTGATGAT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	10/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89040229	C C	CATCATCA others(291): Show CATCATCAACATCACCATCATCATCACTGTCACCACCACCACTATCATCA TCTGCAGCAGCAGCAGCATCATCACCATCACCACCATTGTCACCATCACC ATCAGCACCATCATCACCATCACCATCAGCACCATCATCACTATCACCAT CAGCACCATCATCACTATCACTACCATCACCATCTTTCTACCACCATCAT CATCATCATCACCATCATCACCATCACCACCATCATCACCTCACCATTAT CACCATCACCATCAGCACCATCATCACTATTACTACCATCACCATCATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02723.hp1 others(1): Show HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013	a0001c0001t0003g0119 a0001c0001t0005g0144 a0001c0001t0005g0170 others(1): Show a0001c0001t0003g0119 a0001c0001t0005g0144 a0001c0001t0005g0170 a0001c0001t0013g0092	4	121	0.0331	298	c.136 others(317): Show c.1360+1796_1360+1797insAATGATGGTGATGGTAGTAATAGTGA TGATGGTGCTGATGGTGATGGTGATAATGGTGAGGTGATGATGGTGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGGTAGAAAGATGGTGATGG TAGTGATAGTGATGATGGTGCTGATGGTGATAGTGATGATGGTGCTGATG GTGATGGTGATGATGGTGCTGATGGTGATGGTGACAATGGTGGTGATGGT GATGATGCTGCTGCTGCTGCAGATGATGATAGTGGTGGTGGTGACAGTGA TGATGATGGTGATGTTGATGAT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	10/11			chr9	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747510	C C	CCAGGGGG others(291): Show CCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGCGGGGCAGGGGGTGAG CAGGGCCTGGTTGGGGTGGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGG TGGGGGGGGTGCGGGGGTGAGCAGGGCCCGGTGGAGGTTGGGAGGGGGGC CAGGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGCGGGGCAGGGGGTGAG CAGGGCCTGGTTGGGGTGGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGG TGGGGGGGCGGGGCAGGGGGTGAGCAGGGCCTGGTTGGGGTGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	179	0.0056	298	c.45 others(309): Show c.4520_*4521insCAGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGC GGGGCAGGGGGTGAGCAGGGCCTGGTTGGGGTGGGGGGGGCAGGGGGTGA GCAGGGCCTGGTGGGTGGGGGGGGTGCGGGGGTGAGCAGGGCCCGGTGGA GGTTGGGAGGGGGGCCAGGGGGGTGAGCAGGGCCTGGTGGGTGGGGGGGC GGGGCAGGGGGTGAGCAGGGCCTGGTTGGGGTGGGGGGGGCAGGGGGTGA GCAGGGCCTGGTGGGTGGGGGGGCGGGGCAGGGGGTGAGCAGGGCCTGGT TGGGGTGGGGGGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3461		chr20	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(291): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00609.hp2 others(41): Show HG00408.hp1 HG00408.hp2 HG00609.hp2 HG00735.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01256.hp1 HG01515.hp2 HG02074.hp1 HG02135.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp2 HG04228.hp2 NA18906.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18983.hp1 NA19005.hp1 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19070.hp2 NA19074.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0031 a0001c0001t0044 a0001c0001t0046 a0001c0003t0003 a0001c0004t0049	a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0023 others(41): Show a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0181 a0001c0001t0003g0054 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0171 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0030 a0001c0001t0005g0141 a0001c0001t0007g0006 a0001c0001t0007g0052 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0011g0069 a0001c0001t0014g0042 a0001c0001t0016g0058 a0001c0001t0016g0074 a0001c0001t0031g0131 a0001c0001t0044g0064 a0001c0001t0046g0115 a0001c0003t0003g0078 a0001c0004t0049g0073	44	113	0.3894	298	c.100 others(317): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTC TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(291): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0223	1	194	0.0052	298	c.113 others(315): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCC GTCCGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCCAA others(291): Show CCCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03831.hp2 HG02738.hp1 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0259 a0002c0002t0001g0340 a0002c0002t0001g0259 a0002c0002t0001g0340	2	195	0.0103	298	c.113 others(315): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCG TCCGGGAGGGAGGTTGGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCCAA others(291): Show CCCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0213 a0002c0002t0001g0213	1	194	0.0052	298	c.113 others(315): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCCG TCCGGGAGGGAGGTTGGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(291): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCA CTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCC TCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01123.hp2 others(21): Show HG00423.hp1 HG00597.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01952.hp1 HG01975.hp1 HG02135.hp1 HG02683.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp1 NA18950.hp1 NA18952.hp1 NA18971.hp2 NA18982.hp1 NA18993.hp1 NA19067.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0058 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0002g0007 a0001c0001t0002g0033 a0001c0001t0002g0201 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0270	24	339	0.0708	298	c.265 others(315): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCG GGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(291): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	18	0.0556	298	c.54 others(309): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPIB_chr19_50413938_50436314	50434965	G G	GTGGGGGC others(291): Show GTGGGGGCCTGGACTCTTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGGTCTGGACTCCTGCGTCTGAGGGAGGAGGGGC TGGGGGCCTGGACTCTTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGGGGTCTGGACTCCTGCGTCTGAGGGAGGAGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA19082.hp2 NA18952.hp1 NA19082.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0076 a0001c0003t0001g0039 a0001c0003t0001g0076	2	380	0.0053	298	c.66 others(309): Show c.6629_*6630insTGGGGGCCTGGACTCTTGGGTCTGAGGGAGGAGG GGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCTGCGTC TGAGGGAGGAGGGGCTGGGGGCCTGGACTCTTGGGTCTGAGGGAGGAGGG GCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCTGCGTCT GAGGGAGGAGGGGC	SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding		3652		chr19	TogoVar
STMN3_chr20_63634712_63658424	63641853	C C	CGCCCAGT others(291): Show CGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGC CCCTGCCCGCTCCGAGCTCCACCCTGGCCCCGCCCCCGCCCAGTGCCCCG CCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCG AGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTG CTTGCCCTGCCCCCTCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGC CCCGCCCCGGCCCAGTGCCCCGCCCCCTGCTAGCCCTGTCCCCGCCCCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0066 a0001c0001t0057g0066	1	372	0.0027	298	c.483 others(313): Show c.483+254_483+255insCGGGGCGGGGACAGGGCTAGCAGGGGGCGG GGCACTGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCC GGGGAGGGGGCAGGGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGG GCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGG GCTAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGTG GAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCA GGGGGCGGGGCACTGGGC	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SUFU_chr10_102498972_102638535	102637701	A A	AATATAAT others(291): Show AATATAATTATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03491.hp2 HG03688.hp1 HG02735.hp2 HG03491.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0052 a0001c0002t0002g0090 a0001c0002t0002g0023 a0001c0002t0002g0052 a0001c0002t0002g0090	3	229	0.0131	298	c.75 others(309): Show c.7546_*7547insATATAATTATATATTATATATGATTATAAAATAT AATTATATATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4167		chr10	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(291): Show TTATATATACTTATATAAGTATGTGTATATATACTTATATATACACATAC TTATATATACTTATATAAGTATGTGTATATATACTTATATATATACTTAT ATAAGTATATATATACGTATATATATAAGTATGTATATACTTGTATATAT ACTTATATAAGTATGTATGTATATATACTTATATAAGTATGTATGTGTAT ATATACACGTATATATATATACTTATATATATACGTGTATATATACTTAT ATATATATACACACACACACACATACATATATACTTATATATACGTATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0051 a0051	a0051c0152 a0051c0152	a0051c0152t0001 a0051c0152t0001	a0051c0152t0001g0357 a0051c0152t0001g0357	1	198	0.0051	298	c.982 others(315): Show c.9823-755_9823-754insTATACGTATATATAAGTATATATGTATG TGTGTGTGTGTGTATATATATATAAGTATATATACACGTATATATATAAG TATATATATATACGTGTATATATACACATACATACTTATATAAGTATATA TACATACATACTTATATAAGTATATATACAAGTATATACATACTTATATA TATACGTATATATATACTTATATAAGTATATATATAAGTATATATACACA TACTTATATAAGTATATATAAGTATGTGTATATATAAGTATATATACACA TACTTATATAAGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
TBC1D32_chr6_121074494_121339480	121160497	C C	CAAGAAGG others(291): Show CAAGAAGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAC TAAATTGAATATTGGATTTACATTTTATTGTATCTTAAAATGCACATAGC AAAACCCACTGATTTCAATTTAATTAACATAGAAACCAAGATATGCTTTG TAAATTTTACAAGTAAAGCTGAATCCAGAGAAAAAACAATTTTTATGAAC TTACTTTAAATGTCAGTTAGTAATTAAGAAAGAGCACCATAGAAAAGTCA AGTTACTACAATTTTCTATTAGGTATACTTTACAATCCTTTATCTTACT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01975.hp2 HG01978.hp2 others(7): Show HG01081.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02148.hp2 NA18964.hp2 NA18986.hp2 NA18989.hp1 NA19067.hp1 NA19086.hp1	a0003 a0003	a0003c0004 a0003c0012 a0003c0004 a0003c0012	a0003c0004t0003 a0003c0004t0011 a0003c0012t0011 a0003c0004t0003 a0003c0004t0011 a0003c0012t0011	a0003c0004t0003g0004 a0003c0004t0003g0007 a0003c0004t0003g0014 others(7): Show a0003c0004t0003g0004 a0003c0004t0003g0007 a0003c0004t0003g0014 a0003c0004t0003g0027 a0003c0004t0003g0029 a0003c0004t0003g0033 a0003c0004t0003g0039 a0003c0004t0003g0043 a0003c0004t0011g0024 a0003c0012t0011g0005	10	256	0.0391	298	c.268 others(315): Show c.2680-395_2680-394insAGTAAGATAAAGGATTGTAAAGTATACC TAATAGAAAATTGTAGTAACTTGACTTTTCTATGGTGCTCTTTCTTAATT ACTAACTGACATTTAAAGTAAGTTCATAAAAATTGTTTTTTCTCTGGATT CAGCTTTACTTGTAAAATTTACAAAGCATATCTTGGTTTCTATGTTAATT AAATTGAAATCAGTGGGTTTTGCTATGTGCATTTTAAGATACAATAAAAT GTAAATCCAATATTCAATTTAGTTTAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAACCTTCTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	23/31			chr6	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(291): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACC GATCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	240	0.0042	298	c.228 others(317): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATC GGTCACAGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS2_chr6_169210785_169258846	169243039	C C	CTCCCACC others(291): Show CTCCCACCGCTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCATC ACTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCACTCCCAC CTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCTTCCCACC ACTCCCACCTTCCCAGTGCTCCCATCTTCCCACCTTCCCACCACTCCCAC CTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACCTTCCCACTG CTCCCACCTTCCCACCTTCCCACATTCGCACCTTCCCACCTTCCCACAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0182 a0001c0006t0006g0182	1	172	0.0058	298	c.695 others(315): Show c.695-1082_695-1081insATGTGGGAAGGTGGGAAGGTGCGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAATGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGG GAGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTG GGAAGGTGGGAGCGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169243039	C C	CTCCCACC others(291): Show CTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACTG CTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACC TTCCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCT TCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCGCACCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	172	0.0058	298	c.695 others(315): Show c.695-1082_695-1081insAGGTGCGAATGTGGGAAGGTGGGAAGGT GGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAGCACTGGGAAGGTG GGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTG GGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTG GGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGCGGT GGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THSD4_chr15_71110471_71788383	71225297	T T	TCAGTCCT others(291): Show TCAGTCCTCAGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTT AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0094 a0001c0001t0011g0094	1	116	0.0086	298	c.464 others(315): Show c.464+9913_464+9914insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCCAGTCCTCAGCTCTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11575218	T T	TTGGTAAT others(291): Show TTGGTAATTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0015 a0015	a0015c0045 a0015c0045	a0015c0045t0057 a0015c0045t0057	a0015c0045t0057g0164 a0015c0045t0057g0164	1	178	0.0056	298	c.145 others(319): Show c.1453+15241_1453+15242insCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAATAATTACCA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
TJAP1_chr6_43472570_43511554	43502053	C C	CACACACA others(291): Show CACACACACACACACACACACACACACACACACACTCTCTCTCTCTCTCT CTGTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTTAGAGATCA TCTAATTCCTATTAAAAAACTGGATAAGTTCTGCAGGTGTGGGAATGCGG GGCCACACACACACACACACACACACACTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTTAGAGATCATCT AATTCTTATTAGAAAACTGGATAAGTTCTGCAGGTGTGGGAATGCGGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	286	0.0035	298	c.291 others(313): Show c.291-206_291-205insACACACACACTCTCTCTCTCTCTCTCTGTC TCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTTAGAGATCATCTAA TTCCTATTAAAAAACTGGATAAGTTCTGCAGGTGTGGGAATGCGGGGCCA CACACACACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTTAGAGATCATCTAATTC TTATTAGAAAACTGGATAAGTTCTGCAGGTGTGGGAATGCGGGGACACAC ACACACACACACACACAC	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(291): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGT CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	256	0.0039	298	c.189 others(313): Show c.189-754_189-753insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar

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