Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(236): Show TATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATTTACCCA TCTATCCCCTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATT CATCCACCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCATTGATTCACCTACCCATCCATTCATCCATTCCTTC ATTAACCCATCCATGCACTCATTCATCTATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	210	0.0048	243	c.38- others(258): Show c.38-9835_38-9834insCATCCATCCATCCATCCATCCACCCATTGA TTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCCATGCACT CATTCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATTTACCCATCTATCCCCTCATCTATCCACCAAGC CATTCATCCACCTATCTATGCATTCATCCACCATCTGTCCATCCATCCAT CCATCCATCCATC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855016	C C	CTCCACAC others(236): Show CTCCACACATCACCCTCCACACACACCACCCTCCACACACACCATCCACA CACCACCCTCCACACACCACCCTCCACACACACCACTTTACACACACGCC ACCCTCCACCACTCTCCACATACCACCCTCCACACACACCATGCTCCACA CACACCGCCCTCCACACACACCATCCTCCACACACACCATGCTCCACACA CCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	252	0.0040	243	c.114 others(262): Show c.114+21490_114+21491insTGGTGGTGTGTGGAGGGTGGTAGAGG GTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTG TGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTATG TGGAGAGTGGTGGAGGGTGGCGTGTGTGTAAAGTGGTGTGTGTGGAGGGT GGTGTGTGGAGGGTGGTGTGTGGATGGTGTGTGTGGAGGGTGGTGTGTGT GGAGGGTGATGTGTGGA		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798953	G G	GTGGTGGT others(236): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGT GGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0019 a0001c0002t0003g0019	1	178	0.0056	243	c.185 others(262): Show c.1855-4912_1855-4911insATGGTGGTGGTGGTGGTGGTGGTGGT GATGGTAATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGG TGATGGTGATGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPF31_chr19_54110754_54136713	54133808	C C	CCACCTCC others(236): Show CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	227	0.0044	243	c.23 others(254): Show c.2376_*2377insCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTG		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2096		chr19	TogoVar
PRR5L_chr11_36291288_36470204	36351153	T T	TATATGTA others(236): Show TATATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATA TATAAATATATATTTATAAATATATGTATTTTATATATAAATATATATTT ATAAATATATGTATTTTATATATAAATATATATTTATAAATATATGTATT TTATATATAAATATATATTTATAAATATATGTATTTTATATATAAATATA TATTTATAAATATATGTATTTTATATATAAATATATATTTATAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0002 a0005c0012t0002	a0005c0012t0002g0141 a0005c0012t0002g0141	1	272	0.0037	243	c.-12 others(264): Show c.-125-49840_-125-49839insGTATTTTATATATAAATATATATT TATAAATATATGTATTTTATATATAAATATATATTTATAAATATATGTAT TTTATATATAAATATATATTTATAAATATATGTATTTTATATATAAATAT ATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATATA TGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATATA AATATATATTTATAAATAT		PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTBP1_chr19_792452_817312	816328	T T	TCCACCCA others(236): Show TCCACCCACCCACCCATCTACCCACCTACCCATCCATCCAACCGTCCATC CATCCATTCATCACCCAGCCATTCATTCATCTATCTATCCATCCATCCAT CATCCACCCATGCATCCAACAGTACCCATCCATCCATCCATCCATTCATC ATCCAGCCATTCATTCATCTATCCATCCATCCATCATCCACTCATGCACC CAATGGTACCATCCATCTATCCACCCACCCAACGGTCCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(189): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19082.hp2 NA19085.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0020 a0002c0024 a0004c0023 a0005c0015 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0019 a0001c0002t0025 a0001c0002t0029 a0001c0002t0031 a0001c0003t0004 a0001c0003t0012 a0001c0003t0016 a0001c0003t0018 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0013 a0001c0006t0001 a0001c0006t0002 a0001c0006t0027 a0001c0007t0004 a0001c0013t0001 a0001c0014t0002 a0001c0014t0003 a0001c0017t0004 a0001c0018t0003 a0001c0020t0014 a0002c0024t0001 a0004c0023t0002 a0005c0015t0009 a0006c0016t0043	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0029 others(101): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0084 a0001c0001t0001g0152 a0001c0001t0002g0002 a0001c0001t0003g0002 a0001c0001t0003g0086 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0147 a0001c0001t0003g0154 a0001c0001t0005g0005 a0001c0001t0005g0013 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0127 a0001c0001t0009g0073 a0001c0001t0020g0002 a0001c0001t0021g0002 a0001c0001t0022g0002 a0001c0001t0023g0029 a0001c0001t0026g0041 a0001c0001t0034g0134 a0001c0001t0035g0017 a0001c0001t0038g0080 a0001c0001t0041g0002 a0001c0002t0001g0003 a0001c0002t0001g0096 a0001c0002t0002g0003 a0001c0002t0002g0018 a0001c0002t0002g0024 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0151 a0001c0002t0002g0153 a0001c0002t0002g0158 a0001c0002t0007g0003 a0001c0002t0019g0097 a0001c0002t0025g0157 a0001c0002t0029g0003 a0001c0002t0031g0098 a0001c0003t0004g0007 a0001c0003t0004g0012 a0001c0003t0004g0014 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0104 a0001c0003t0004g0107 a0001c0003t0004g0113 a0001c0003t0004g0130 a0001c0003t0004g0131 a0001c0003t0004g0156 a0001c0003t0012g0069 a0001c0003t0016g0012 a0001c0003t0018g0047 a0001c0004t0001g0025 a0001c0004t0002g0006 a0001c0004t0002g0016 a0001c0004t0002g0061 a0001c0004t0002g0062 a0001c0004t0002g0064 a0001c0004t0002g0065 a0001c0004t0002g0071 a0001c0004t0005g0006 a0001c0004t0013g0006 a0001c0006t0001g0027 a0001c0006t0001g0056 a0001c0006t0001g0057 a0001c0006t0001g0058 a0001c0006t0002g0028 a0001c0006t0027g0027 a0001c0007t0004g0007 a0001c0007t0004g0022 a0001c0013t0001g0017 a0001c0014t0002g0135 a0001c0014t0003g0139 a0001c0017t0004g0081 a0001c0018t0003g0002 a0001c0020t0014g0110 a0002c0024t0001g0051 a0004c0023t0002g0090 a0005c0015t0009g0050 a0006c0016t0043g0066	192	388	0.4949	243	c.55 others(254): Show c.5502_*5503insCCACCCACCCACCCATCTACCCACCTACCCATCC ATCCAACCGTCCATCCATCCATTCATCACCCAGCCATTCATTCATCTATC TATCCATCCATCCATCATCCACCCATGCATCCAACAGTACCCATCCATCC ATCCATCCATTCATCATCCAGCCATTCATTCATCTATCCATCCATCCATC ATCCACTCATGCACCCAATGGTACCATCCATCTATCCACCCACCCAACGG TCCATCCAC		PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding					4017		chr19	TogoVar
PTBP1_chr19_792452_817312	816328	T T	TCCACCCA others(236): Show TCCACCCACCCACCCATCTACCCACCTACCCATCCATCCAACCGTCCATC CATCCATTCATCACCCAGCCATTCATTCATCTATCTATCCATCCATCCAT CATCCACCCATGCATCCAACAGTACCCATCCGTCCATCCATCCATTCATC ATCCAGCCATTCATTCATCTATCCATCCATCCATCATCCACTCATGCACC CAATGGTACCATCCATCTATCCACCCACCCAACGGTCCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	388	0.0026	243	c.55 others(254): Show c.5502_*5503insCCACCCACCCACCCATCTACCCACCTACCCATCC ATCCAACCGTCCATCCATCCATTCATCACCCAGCCATTCATTCATCTATC TATCCATCCATCCATCATCCACCCATGCATCCAACAGTACCCATCCGTCC ATCCATCCATTCATCATCCAGCCATTCATTCATCTATCCATCCATCCATC ATCCACTCATGCACCCAATGGTACCATCCATCTATCCACCCACCCAACGG TCCATCCAC		PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding					4017		chr19	TogoVar
PTBP1_chr19_792452_817312	816328	T T	TCCACCCA others(236): Show TCCACCCACCCACCCATCTACCCACCTACCCATCCATCCAACCGTCCATC CATCCATTCATCACCCAGCCATTCATTCATCTGTCTATCCATCCATCCAT CATCCACCCATGCATCCAACAGTACCCATCCATCCATCCATCCATTCATC ATCCAGCCATTCATTCATCTATCCATCCATCCATCATCCACTCATGCACC CAATGGTACCATCCATCTATCCACCCACCCAACGGTCCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0087 a0001c0001t0011g0087	1	388	0.0026	243	c.55 others(254): Show c.5502_*5503insCCACCCACCCACCCATCTACCCACCTACCCATCC ATCCAACCGTCCATCCATCCATTCATCACCCAGCCATTCATTCATCTGTC TATCCATCCATCCATCATCCACCCATGCATCCAACAGTACCCATCCATCC ATCCATCCATTCATCATCCAGCCATTCATTCATCTATCCATCCATCCATC ATCCACTCATGCACCCAATGGTACCATCCATCTATCCACCCACCCAACGG TCCATCCAC		PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding					4017		chr19	TogoVar
PTPRT_chr20_42067756_43194906	42993499	T T	TATATACA others(236): Show TATATACACATATATATAGTGTGTGTATATATATACATATATTTGTGTAT ATATATACATATATGTGTGTGTATATATATACATATGTGTGTGTGTATAT ATATACATATGTGTGTGTGTATATATACATATATATGTGTGTGTATATAT ACACATATATGTGTGTGTATATATACATATATGTGTATATATACACACAC ATATATGTGTATATATACACACACATATATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0030 a0001c0018t0003g0030	1	62	0.0161	243	c.89- others(262): Show c.89-107568_89-107567insGTGTATATATACACATATATGTGTGT GTATATATACACATATATGTGTGTGTATATATACACATATATGTATATAT ACACACACATATATGTGTATATATACACACACATATATATGTATATATAC ACACACACATATGTATATATATACACACACACATATGTATATATATACAC ACACATATATGTATATATATACACAAATATATGTATATATATACACACAC TATATATATGTGTATAT		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30						chr20	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(236): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCAC CATCCCCACCAGGCCCACCATCCCCACCAGGCTCACCAGGCCCACCATCC CCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	330	0.0030	243	c.397 others(256): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGGC CTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTG GGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(236): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCC CCATCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	330	0.0030	243	c.397 others(256): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTG GGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(236): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCC CCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	330	0.0030	243	c.397 others(256): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTG GGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(236): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCATCCCCACCAGGCCCAC CATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCC CCACCAGGCCCACCAGGCCCACCATCCCCATCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	330	0.0030	243	c.397 others(256): Show c.397-73_397-72insCCTGGTGGGCCTGATGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGC CTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGATGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTG GGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RANBP10_chr16_67718070_67811560	67782758	T T	TCACTTTT others(236): Show TCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTA AAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCT CTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCC ATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAG AGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01167.hp1 others(21): Show HG00639.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01934.hp1 HG01952.hp1 HG02027.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02735.hp2 HG02818.hp2 HG03139.hp2 HG03486.hp1 HG03516.hp2 HG03927.hp1 NA19010.hp1 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0005t0001	a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0099 others(21): Show a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0003g0077 a0001c0001t0003g0089 a0001c0001t0014g0136 a0001c0005t0001g0152	24	152	0.1579	243	c.348 others(262): Show c.348-10673_348-10672insGCTTTTAAGAGATGGCTCTTAAAAGT GGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAA AAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTC TTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATG GCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGA GATGGCTCTTAAAAGTG		RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13						chr16	TogoVar
RASA3_chr13_113972783_114137623	114133249	T T	TCCCCCCC others(236): Show TCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCCCAG TCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCCCAGTCCCCCTGCA GACCCCGGCACCGGCAGGTCTCCCCCACCCAGTCCCCCTGCAGACCCCAG CATGAGCAGGTCCCCCCCCAGTCCCCCTGCAGACCCCAGCATGAGCAGGT CCCCCCCCCCAAGTCCCCCTGCAGACCCCAGCATGGGCAGGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	243	c.-76 others(252): Show c.-761_-760insGGACCTGCCCATGCTGGGGTCTGCAGGGGGACTTGG GGGGGGGGACCTGCTCATGCTGGGGTCTGCAGGGGGACTGGGGGGGGACC TGCTCATGCTGGGGTCTGCAGGGGGACTGGGTGGGGGAGACCTGCCGGTG CCGGGGTCTGCAGGGGGACTGGGGGGGGGACCTGCCCATGCCGGGGTCTG CAGGGGGACTGGGGGGGGGACCTGCCCATGCCGGGGTCTGCAGGGGGACT GGGGGGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding					627		chr13	TogoVar
RASA3_chr13_113972783_114137623	114133249	T T	TCCCCCCC others(236): Show TCCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCCCA GTCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCCCAGTCCCCCTGC AGACCCCGGCACCGGCAGGTCTCCCCCACCCAGTCCCCCTGCAGACCCCA GCATGAGCAGGTCCCCCCCCAGTCCCCCTGCAGACCCCAGCATGAGCAGG TCCCCCCCCCCAAGTCCCCCTGCAGACCCCAGCATGGGCAGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	67	0.0149	243	c.-76 others(252): Show c.-761_-760insGACCTGCCCATGCTGGGGTCTGCAGGGGGACTTGGG GGGGGGGACCTGCTCATGCTGGGGTCTGCAGGGGGACTGGGGGGGGACCT GCTCATGCTGGGGTCTGCAGGGGGACTGGGTGGGGGAGACCTGCCGGTGC CGGGGTCTGCAGGGGGACTGGGGGGGGGACCTGCCCATGCCGGGGTCTGC AGGGGGACTGGGGGGGGGACCTGCCCATGCCGGGGTCTGCAGGGGGACTG GGGGGGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding					627		chr13	TogoVar
RASA3_chr13_113972783_114137623	114133379	T T	TCCCCCCT others(236): Show TCCCCCCTGCAGACCCCAGCATGAGCAGGTCCCCCCCCCAGTCCCCCTGC AGACCCCAGCATGAGCAGGTCCCCCCCCCCAAGTCCCCCTGCAGACCCCA GCATGGGCAGGTCCCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAG GTCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCCCA GTCCCCCTGCAGACCCCGGCACCGGCAGGTCTCCCCCACCCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	67	0.0149	243	c.-89 others(252): Show c.-891_-890insACTGGGTGGGGGAGACCTGCCGGTGCCGGGGTCTGC AGGGGGACTGGGGGGGGGACCTGCCCATGCCGGGGTCTGCAGGGGGACTG GGGGGGACCTGCCCATGCCGGGGTCTGCAGGGGGACTGGGGGGGGGACCT GCCCATGCTGGGGTCTGCAGGGGGACTTGGGGGGGGGGACCTGCTCATGC TGGGGTCTGCAGGGGGACTGGGGGGGGGACCTGCTCATGCTGGGGTCTGC AGGGGGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding					757		chr13	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(236): Show TCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCT CCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCT TCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA19066.hp1 HG01256.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0075 a0001c0001t0002g0055 a0001c0001t0002g0075	2	354	0.0057	243	c.365 others(258): Show c.365+415_365+416insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCT CCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCT CCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTC CTTCCTCCCTCCT		RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(236): Show TCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCC CTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCT CCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCT TCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp1 HG01934.hp2 others(4): Show HG00438.hp1 HG01099.hp1 HG01934.hp2 HG02040.hp1 HG02559.hp1 HG03225.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0164 a0001c0001t0005g0203 others(1): Show a0001c0001t0005g0006 a0001c0001t0005g0164 a0001c0001t0005g0203 a0001c0001t0005g0225	7	354	0.0198	243	c.365 others(258): Show c.365+415_365+416insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCT CCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCT CCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTC CTTCCTCCCTCCT		RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(236): Show TCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCC TTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTC CCCCTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCT TCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	354	0.0028	243	c.365 others(258): Show c.365+415_365+416insCCCTCCCTCCTCCTCCCTCCTCCTCCCTCC TCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCC TCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTC CTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCCCCCCT CCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTC CTTCCTCCCTCCT		RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(236): Show TCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCCTTCTTCC TCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCC CCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	354	0.0028	243	c.365 others(258): Show c.365+415_365+416insCCCTCCTCCCTCCCTCCTCCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCC TTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCT CCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCT CCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTC CTTCCTCCCTCCT		RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTCTTTT others(236): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	280	0.0036	243	c.3+2 others(258): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAA		RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21						chr20	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(236): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATGTATATTAATATATATTTAAATTATAT AATTTAAATATACATATTTAAAAATATATATATTTAAATATATATATTTT TAATATATATATTTTTAAATATATATATATTTATATATATATTTTTAAAT ATATATATATTTATATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02717.hp2 HG03471.hp1 others(3): Show HG01167.hp1 HG02717.hp2 HG03471.hp1 NA18522.hp2 NA19030.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0001 a0005c0009t0001 a0001c0002t0001 a0005c0009t0001	a0001c0002t0001g0031 a0001c0002t0001g0214 a0001c0002t0001g0226 others(1): Show a0001c0002t0001g0031 a0001c0002t0001g0214 a0001c0002t0001g0226 a0005c0009t0001g0211	6	408	0.0147	243	c.182 others(260): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATGTATATTAATATATATTTAAA TTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATATATA TATTTTTAATATATATATTTTTAAATATATATATATTTATATATATATTT TTAAATATATATATATTTATATATATATTTTTAAATATATATATATATTT ATATATATATTTAAA		RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610127	T T	TCCTCTAA others(236): Show TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTC CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCT CTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCT AACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAA CTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0144 a0144	a0144c0210 a0144c0210	a0144c0210t0007 a0144c0210t0007	a0144c0210t0007g0298 a0144c0210t0007g0298	1	414	0.0024	243	c.397 others(252): Show c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGG GGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGG GTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGT GCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGC AGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAG TTAGAGG	p.Glu others(258): Show p.Glu1323_Glu1324insGlyThrLysGluThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnGl uGluArgValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluG luGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGlu GlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluGl yValGlnLeuGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4235/8014	3970/7203	1324/2400			chr8	TogoVar
RPA3_chr7_7631518_7723607	7678637	G G	GATAAATA others(236): Show GATAAATATATATTTATATACTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAAT ATATATTTATGTATTTAGTTTATAAATATTTATATATTTAGTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0164 a0001c0001t0024g0164	1	308	0.0033	243	c.-75 others(262): Show c.-758+7192_-758+7193insAAACTAAATATATAAATATTTATAAA CTAAATACATAAATATATATTTATAAACTAAATACATAAATATATATTTA TAAACTAAATACATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATA TATATTTATAAACTAAATATATAAATATATATTTATCTATAAATTAAGTA TATAAATATATATTTAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RTEL1_chr20_63653312_63701245	63693510	T T	TCCACCTC others(236): Show TCCACCTCCACCACCTCCACCACCACCTCCACCACCACACCTCCACCACC TCCACCACCCTCCACCTCCACCCTCCACCTCCACCTCCACCACCTCCACC ACCACCTCCACACACCACCACACTCCACCACCACCACCTCCACCACCACC TCCACCACCTCCACCACCACCTCACCATCCACCACCACCACCTCCTCCAC CTCCACCACCCCACCACCCACCACCACCTCCACCACCTCCACCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	60	0.0167	243	c.299 others(260): Show c.2992+229_2992+230insACCTCCACCACCTCCACCACCACCTCCA CCACCACACCTCCACCACCTCCACCACCCTCCACCTCCACCCTCCACCTC CACCTCCACCACCTCCACCACCACCTCCACACACCACCACACTCCACCAC CACCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCACCATCCA CCACCACCACCTCCTCCACCTCCACCACCCCACCACCCACCACCACCTCC ACCACCTCCACCACC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
SARDH_chr9_133658560_133743352	133668620	C C	CCCCTCCC others(236): Show CCCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCTCTCTCCTTCCCTCTCCCTCACCCTCCCTCTCTCTCTCC TTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTT CCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTC CCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCCTTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0068 a0008c0068	a0008c0068t0002 a0008c0068t0002	a0008c0068t0002g0057 a0008c0068t0002g0057	1	262	0.0038	243	c.249 others(262): Show c.2496-1751_2496-1750insTAAGGGGAGAGGGAGGGTAAGGGAGA GGGAAGGAGAGAGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAT GGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGG AGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAA GGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGG GTGAGGGAGAGGGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(236): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18980.hp1 NA18994.hp2 others(2): Show NA18973.hp1 NA18980.hp1 NA18994.hp2 NA19076.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0295 a0001c0001t0003g0306 others(2): Show a0001c0001t0003g0279 a0001c0001t0003g0295 a0001c0001t0003g0306 a0001c0001t0003g0309 a0001c0001t0003g0321	5	332	0.0151	243	c.632 others(260): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATA		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCART1_chr10_133448945_133474760	133472535	G G	GTCTGGTC others(236): Show GTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGGTCTGGTCAGTTGAG TGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTC CTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGGTCTGGTCAG TTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTGAGTGTGGCGTCTC CCTCCTGAGATCTGGTCGTTGAGTGTGGCGTCTCCCTTCTGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(36): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00642.hp1 HG01361.hp2 HG01934.hp1 HG01978.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG03654.hp2 HG04184.hp2 NA18612.hp2 NA18947.hp1 NA18948.hp1 NA18957.hp2 NA18967.hp2 NA18969.hp1 NA18982.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19003.hp2 NA19006.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA20752.hp1	a0003 a0004 a0021 a0003 a0004 a0021	a0003c0003 a0003c0008 a0003c0038 others(5): Show a0003c0003 a0003c0008 a0003c0038 a0003c0039 a0004c0010 a0004c0057 a0004c0065 a0021c0060	a0003c0003t0003 a0003c0008t0003 a0003c0038t0003 others(5): Show a0003c0003t0003 a0003c0008t0003 a0003c0038t0003 a0003c0039t0003 a0004c0010t0003 a0004c0057t0003 a0004c0065t0003 a0021c0060t0003	a0003c0003t0003g0005 a0003c0003t0003g0023 a0003c0003t0003g0034 others(19): Show a0003c0003t0003g0005 a0003c0003t0003g0023 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0170 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0038t0003g0005 a0003c0039t0003g0126 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0094 a0004c0010t0003g0110 a0004c0057t0003g0131 a0004c0065t0003g0029 a0021c0060t0003g0158	39	434	0.0899	243	c.45 others(254): Show c.4567_*4568insTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAG GTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAG TGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTC CTGAGGTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGT TGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTGAGTGTGGCGTCTCC CTTCTGAGA		SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding					2776		chr10	TogoVar
SCART1_chr10_133448945_133474760	133472535	G G	GTCTGGTC others(236): Show GTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGGTCTGGTCAGTTGAG TGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTGGTGTCTCCCTC CTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGGTCTGGTCAG TTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTGAGTGTGGCGTCTC CCTCCTGAGATCTGGTCGTTGAGTGTGGCGTCTCCCTTCTGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA19060.hp1 NA18979.hp2 NA19060.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0029 a0003c0003t0003g0029	2	434	0.0046	243	c.45 others(254): Show c.4567_*4568insTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAG GTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAG TGTGGTGTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTC CTGAGGTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGT TGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTGAGTGTGGCGTCTCC CTTCTGAGA		SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding					2776		chr10	TogoVar
SCART1_chr10_133448945_133474760	133472575	G G	GTCAGTTG others(236): Show GTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTGG CGTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAG GTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTGAGT GTGGCGTCTCCCTCCTGAGATCTGGTCGTTGAGTGTGGCGTCTCCCTTCT GAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGGTCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18946.hp2 NA18965.hp1 others(1): Show HG00609.hp2 NA18946.hp2 NA18965.hp1 NA19002.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0114 a0003c0003t0003g0007 a0003c0003t0003g0114	4	434	0.0092	243	c.46 others(254): Show c.4607_*4608insTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTG GTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTGG CGTCTCCCTCCTGAGGTCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAG ATCTGGTCGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTGAGTG TGGCGTCTCCCTTCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCT GAGGTCTGA		SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding					2816		chr10	TogoVar
SEPTIN9_chr17_77276499_77505593	77484768	G G	GATGGTGG others(236): Show GATGGTGGTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGA TGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTG GTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGGT GGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG00639.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0111 a0001c0001t0011g0139 a0001c0001t0011g0111 a0001c0001t0011g0139	2	150	0.0133	243	c.913 others(260): Show c.913+2433_913+2434insATGGTGGTGATTGTGATGGTTGTGATTG TGATGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATG GGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGT GGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAG GGGGTGATGGTGATT		SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11						chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484768	G G	GATGGTGG others(236): Show GATGGTGGTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGA TGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTG GTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGGT GGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp2 HG00639.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0058 a0001c0001t0018 a0001c0001t0058	a0001c0001t0018g0101 a0001c0001t0058g0076 a0001c0001t0018g0101 a0001c0001t0058g0076	2	158	0.0127	243	c.859 others(260): Show c.859+2433_859+2434insATGGTGGTGATTGTGATGGTTGTGATTG TGATGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATG GGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGT GGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAG GGGGTGATGGTGATT		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10						chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(236): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TTATATAATATATTGTATATTATATATTATATAATATATTGTATATTATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATAATATACAATATATTATATAATATATAATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	366	0.0027	243	c.-15 others(254): Show c.-1543_-1542insTGTATATTATATATTATATAATATATTGTATATT ATATATTATATAATATATAATATACAATATATTATATAATATATAATATA CAATATATTATATAATATACAATATATTATATAATATATAATATACAATA TATTATATAATATATAATATACAATATATTATATATAATATACAATATAT TATATATAATATACAATATACAATATATTATATAATATACAATATATTAT ATAATATAC		SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding					1419		chr6	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(236): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTT AGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0103 a0001c0016t0002g0103	1	376	0.0027	243	c.101 others(262): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGTTAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(236): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0052 a0001c0003t0002g0052	1	376	0.0027	243	c.101 others(262): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(236): Show TAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0098 a0001c0003t0002g0098	1	376	0.0027	243	c.101 others(262): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA GAGGGTGGAGAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432039	C C	CAGGGTGG others(236): Show CAGGGTGGAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGCAGAGGGTGCAGAGGGT GCAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0345 a0001c0001t0002g0345	1	376	0.0027	243	c.101 others(260): Show c.1014-920_1014-919insGAGGGTGCAGAGGGTGCAGAGGGTGGAG AGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGCAGA GGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAG GGTGGTTAGGGTGGA		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432075	C C	CAGGGTGG others(236): Show CAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGG TGGATAGGGTAGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGATGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGATGGTTA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0257 a0001c0003t0004g0257	1	376	0.0027	243	c.101 others(260): Show c.1014-885_1014-884insACAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGACAGGGTGGATAGGGTAGATAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGATAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGATAGGATGGTTAGGGTGGACAGGGT GGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGCD_chr5_156322164_156772788	156549148	A A	ATTTTTTT others(236): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0028 a0001c0001t0041g0028	1	150	0.0067	243	c.295 others(262): Show c.295-40080_295-40079insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTTT		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070781	G G	GAGCCCCC others(236): Show GAGCCCCCAGCACACGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAAC GCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0044 a0001c0005t0002g0044	1	118	0.0085	243	c.224 others(262): Show c.2241+2851_2241+2852insGCATAAGTGTGATACCCGTGTGCTGG GGGCTCACTGGGGGCTGCGTTAAGTGTGATGCCCGTGTGCTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATACCCGTGTGCTGGGGGCTCACTGGGGGC TGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAG TGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCGTTAAGTGTGATG CCCGTGTGCTGGGGGCT		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1082701	T T	TCCCGTCT others(236): Show TCCCGTCTCGGGTTCTGGAAAGTCCAGGCTTCCCGTCTCGGGTTCTGGAA AGCCTGGGCTTCCCATCTTGGGTTCTGGAAAGCCTGGGCTTCCTCTCTAG GGTTCTGGAAAGTCCGGGCTTCCCCGTCTCGGGTTCTGGGGAAGTCCGGG CTTCCCGTCTCAGGTTCTGGAAAGTCCGGGCTTCCTCTCTAGGGTTCTGG AAAGCCTGGGCTTCCTCTCTAGGGTTCTGGAAAGTCCGGGCTTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0090 a0001c0001t0007g0090	1	118	0.0085	243	c.113 others(260): Show c.1130-958_1130-957insGAAGCCCGGACTTTCCAGAACCCTAGAG AGGAAGCCCAGGCTTTCCAGAACCCTAGAGAGGAAGCCCGGACTTTCCAG AACCTGAGACGGGAAGCCCGGACTTCCCCAGAACCCGAGACGGGGAAGCC CGGACTTTCCAGAACCCTAGAGAGGAAGCCCAGGCTTTCCAGAACCCAAG ATGGGAAGCCCAGGCTTTCCAGAACCCGAGACGGGAAGCCTGGACTTTCC AGAACCCGAGACGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	8/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098244	C C	CCCCCCTC others(236): Show CCCCCCTCTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGC ATGCCCAGGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCT CTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAA CCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCAAGCCCAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0004 a0001c0003t0003g0004	1	118	0.0085	243	c.125 others(260): Show c.125-3997_125-3996insCCTGGGCTTGCAGAGGGTTAGAAGGGGG CTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAG GGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTA GAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCA GAGGGTTAGAGGGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098780	A A	ACCCAGCC others(236): Show ACCCAGCCCCCCTCTAACCCTCTGCACACCCAGACCCCCTCTAACCCTCT GCTCACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCT AACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCC TTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 HG03098.hp1 NA18522.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0024 a0002c0012t0003 a0002c0012t0024	a0002c0012t0003g0075 a0002c0012t0024g0073 a0002c0012t0003g0075 a0002c0012t0024g0073	2	118	0.0170	243	c.125 others(260): Show c.125-4533_125-4532insCATGCAGAGGGTTAGAGGGGGCCTGGGC ATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGA GGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGTCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC25A23_chr19_6435064_6464792	6435425	T T	TAAAAATT others(236): Show TAAAAATTATGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	366	0.0027	243	c.65 others(254): Show c.6549_*6550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC ATAATTTTT		SLC25A23	ENSG00000125648.15	transcript	ENST00000301454.9	protein_coding					4638		chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6435425	T T	TAAAAATT others(236): Show TAAAAATTATGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	350	0.0029	243	c.-17 others(254): Show c.-1733_-1732insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC ATAATTTTT		SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding					1663		chr19	TogoVar
SLC2A5_chr1_9030106_9074635	9053341	C C	CGATATAT others(236): Show CGATATATATTTATATATATTATATATTTATATATTATATATATTTATAT ATATTATATATTTATATATTATATATATTTATATATATTATATATTTATA TATTATATATATTTATATATATTATATATATTATATATTTATATATTATA TATATTTATATATTATATATTTATATATTATATATATTTATATATATTAT ATATTTATATATTATATATTTATATATATTATATATTTATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0037 a0001c0001t0009g0037	1	336	0.0030	243	c.293 others(260): Show c.293+4106_293+4107insATATATAAATATATAATATATATAAATA TATAATATATAAATATATAATATATATAAATATATATAATATATAAATAT ATAATATATAAATATATATAATATATAAATATATAATATATATAATATAT ATAAATATATATAATATATAAATATATAATATATATAAATATATATAATA TATAAATATATAATATATATAAATATATATAATATATAAATATATAATAT ATATAAATATATATC		SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11						chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8331445	A A	AAACACTT others(236): Show AAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTA AAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTT TAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATT TTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATA TTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG01993.hp2 others(16): Show HG00438.hp1 HG00639.hp1 HG01993.hp2 HG02135.hp1 HG02630.hp2 HG02735.hp1 HG02976.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 NA18939.hp1 NA18954.hp2 NA18966.hp2 NA18993.hp1 NA18999.hp1 NA19043.hp1 NA19081.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0017t0001 a0002c0009t0001	a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0322 others(11): Show a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0322 a0001c0001t0002g0007 a0001c0001t0002g0033 a0001c0001t0002g0134 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0160 a0001c0002t0001g0024 a0001c0003t0001g0179 a0001c0003t0001g0265 a0001c0017t0001g0180 a0002c0009t0001g0148	19	388	0.0490	243	c.144 others(260): Show c.1443+511_1443+512insCACTTTTAAAAAATATTTTTAAAAAACA CTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAA CACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAA AACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAA AAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTT AAAAAACACTTTTAA		SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(236): Show AATATATATTATGTATAATATATATTATATATTATATATTATATATATTA TGTATAATATATATTATATATTATATATATTATGTATAATATATATTATA TATTATATATATATTATATATATTATGTATAATATATATTATATATTATA TATATATTATATATATTATGTATAATATATATTATATATTATATATATAT TATATATATTATGTATAATATATATTATATATTATATATATATT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0290 a0001c0001t0051g0290	1	310	0.0032	243	c.784 others(258): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA ATATATATTATACATAATATATATAATATATAATATATAATATATATTAT ACATAATATATAT		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(236): Show AATATATATTATGTATAATATATATTATATATTATATATTATATATATTA TGTATACTATATATTATATATTATATATATTATGTATAATATATATTATA TATTATATATATATTATATATATTATGTATAATATATATTATATATTATA TATATATTATATATATTATGTATAATATATATTATATATTATATATATAT TATATATATTATGTATAATATATATTATATATTATATATATATT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0259 a0001c0001t0072g0259	1	310	0.0032	243	c.784 others(258): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA ATATATAGTATACATAATATATATAATATATAATATATAATATATATTAT ACATAATATATAT		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar

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