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	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
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(209): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCC CCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19010.hp2 NA19068.hp2 NA18947.hp1 NA19010.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0126 a0001c0001t0001g0209 a0001c0001t0001g0210	3	330	0.0091	216	c.397 others(229): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(209): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCC CCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19058.hp2 NA18977.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	330	0.0061	216	c.397 others(229): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(209): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCAT CAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCC CCATCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	330	0.0030	216	c.397 others(229): Show c.397-73_397-72insCCTGGTGGGCCTGATGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGC CTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(209): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCAC CATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCC CCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	330	0.0030	216	c.397 others(229): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGC CTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985755	G G	GCCCACCA others(209): Show GCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCA CCATCCCCACCAGGCCCACCATCCCCACCAGGCTCACCAGGCCCACCATC CCCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCAC CATCCCCACCAGGCTCACCAGGCCCACCATCCCCACCAGGCCCACCAGGC CCACCATCCCCACCATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	330	0.0030	216	c.397 others(229): Show c.397-91_397-90insGATGGTGGGGATGGTGGGCCTGGTGGGCCTGG TGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGGCCTGGTGGGG ATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGT GAGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCC TGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar
RAD51C_chr17_58687602_58740611	58726417	T T	TATATGTA others(209): Show TATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATG TGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGA TGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATATG TATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTATA CGTATAGATGTATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00558.hp2 others(87): Show HG00323.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03927.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(85): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0178 a0001c0001t0001g0304 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0128 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0004g0008 a0001c0001t0004g0079 a0001c0001t0004g0098 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0011g0067 a0001c0001t0013g0027 a0001c0004t0001g0129 a0001c0004t0001g0138	90	330	0.2727	216	c.965 others(233): Show c.965+2444_965+2445insCGTATAGATGTATATACATATGTATATA TGTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATA GATGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATA TGTATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTA TACGTATAGATGTATATACATATGTATATATGTGTATA		RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
RALGAPA2_chr20_20384530_20717644	20458790	C C	CTATATAT others(209): Show CTATATATATATAGACCTATATATATATAGACCTATATATATAGACCTAT ATATATAGACCTATATATATATAGACCTATATATATAGACCTATATATAT ATAGACCTATATATATAGACCTATATATATATAGACCTATATATATAGAC CTATATATATAGACCTATATATATATAGACCTATATATATATATAGACCT ATATATATATAGACCTA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	122	0.0082	216	c.549 others(237): Show c.5495+14038_5495+14039insTAGGTCTATATATATATAGGTCTA TATATATATATAGGTCTATATATATATAGGTCTATATATATAGGTCTATA TATATAGGTCTATATATATATAGGTCTATATATATAGGTCTATATATATA TAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATAGGTC TATATATATAGGTCTATATATATATAGGTCTATATATATATA		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39						chr20	TogoVar
RALGAPA2_chr20_20384530_20717644	20458824	A A	ATATATAT others(209): Show ATATATATAGACCTATATATATATAGACCTATATATATATAGACCTATAT ATATAGACCTATATATATATAGACCTATATATATAGACCTATATATATAT AGACCTATATATATATAGACCTATATATATATAGACCTATATATATATAG ACCTATATATATAGACCTATATATATATATAGACCTATATATATATAGAC CTATATATATATAGACC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0047 a0006c0008t0047	a0006c0008t0047g0121 a0006c0008t0047g0121	1	122	0.0082	216	c.549 others(237): Show c.5495+14004_5495+14005insGGTCTATATATATATAGGTCTATA TATATATAGGTCTATATATATATATAGGTCTATATATATAGGTCTATATA TATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATATATA TATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATAGG TCTATATATATATAGGTCTATATATATATAGGTCTATATATA		RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39						chr20	TogoVar
RANBP10_chr16_67718070_67811560	67782758	T T	TCACTTTT others(209): Show TCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTA AAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCT CTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCC ATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAG AGCCATCTCTTAAAAGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00609.hp2 others(37): Show HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02257.hp1 HG02257.hp2 HG02723.hp1 HG02818.hp1 HG03098.hp2 HG03195.hp1 HG03491.hp1 HG03491.hp2 HG04115.hp1 HG04204.hp1 NA18964.hp1 NA18991.hp1 NA19010.hp2 NA19030.hp2 NA19055.hp1 NA19060.hp1 NA19084.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0003t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0090 others(37): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0003g0144 a0001c0001t0007g0147 a0001c0001t0010g0119 a0001c0001t0012g0115 a0001c0001t0013g0034 a0001c0003t0001g0150	40	152	0.2632	216	c.348 others(235): Show c.348-10673_348-10672insGCTTTTAAGAGATGGCTCTTAAAAGT GGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAA AAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTC TTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATG GCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTG		RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13						chr16	TogoVar
RASA3_chr13_113972783_114137623	114119595	T T	TCTCTCCA others(209): Show TCTCTCCAGCCAGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGAC GTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGACGTCGATCAGGGCCCC CCCCTCCCTCTCTCCAGCCAGACGTCGATCAGGGCCCCCCCTCCCTCTCT CCAGCCAGACGTCGATCAGGGCCCCCCCTCCCCTCTCCAGCCTGGCGTCG ATCAGGGCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	216	c.55+ others(233): Show c.55+12839_55+12840insGGGAGGGGGGCCCTGATCGACGCCAGGC TGGAGAGGGGAGGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAGGGAGG GGGGGCCCTGATCGACGTCTGGCTGGAGAGAGGGAGGGGGGGGCCCTGAT CGACGTCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGA GAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(209): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGATGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCCGGGGTGGGGATGGGGCCCG GGGTGGGGATGGGGACC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02647.hp1 NA19030.hp2 HG01255.hp1 HG02647.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0002 a0001c0001 a0001c0011 a0002c0002	a0001c0001t0013 a0001c0011t0026 a0002c0002t0005 a0001c0001t0013 a0001c0011t0026 a0002c0002t0005	a0001c0001t0013g0065 a0001c0011t0026g0210 a0002c0002t0005g0107 a0001c0001t0013g0065 a0001c0011t0026g0210 a0002c0002t0005g0107	3	432	0.0069	216	c.-83 others(233): Show c.-83-2873_-83-2872insGGTCCCCATCCCCACCCCGGGCCCCATC CCCACCCCGGGCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTCGC CATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCCCCACCCCGG GCCCCGTCCCCACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACC CCGGGCCCCATCCCCACCCCGGGCCCCATCCCCACCCC		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13						chr20	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(209): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	166	0.0060	216	c.908 others(233): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
RETNLB_chr3_108750638_108762410	108759523	G G	GTATGTGT others(209): Show GTATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTATGT GTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGT ATACATACGTATGTATGTGTATACATACATACGTATGTGTATACATACAT ACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATACGTAT GTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	216	c.-23 others(227): Show c.-2339_-2338insTGTATGTATACACATACATACGTATGTATACACA TACATACGTATGTATGTATACACATACATACGTATGTATGTATACACATA CGTATGTATGTATACACATACATACGTATGTATACACATACATACATACG TATGTATACACATACATACATACGTATGTATACACATACATACATACGTA TGTATACACATACATACGTATGTATACACATA		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759586	C C	CATACGTA others(209): Show CATACGTATGTGTATACATACATACGTATGTGTATACATACATACGTATG TATGTGTATACATACATACGTATGTATGTGTATACATACATATGTATGTG TATACATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	216	c.-24 others(227): Show c.-2402_-2401insACACATACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACGTAT GTATGTATACACATACATACGTATGTATGTATACACATACATATGTATGT ATACACATACATACGTATGTATGTATACACATACATACGTATGTATGTAT ACACATACGTATGTATGTATACACATACGTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2177		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(209): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTATACATACGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTA TACATACATATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18988.hp1 NA19012.hp2 NA18947.hp1 NA18988.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	452	0.0066	216	c.-24 others(227): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACATATGTATGTATACACATACATACATAT GTATGTATACACATACATACGTATGTATACACATACATACGTATGTATAC ACATACATACGTATGTATGTATACACATACATACGTATGTATACACATAC ATACGTATGTATACACATACATACATACGTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2225		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759658	C C	CATACGTA others(209): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTATACATACATACGTA TGTATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTA TACATACATATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	216	c.-24 others(227): Show c.-2474_-2473insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACATATGTATGTATACACATACATACGTAT GTATACACATACATACGTATGTATACACATACATACGTATGTATGTATAC ACATACATACGTATGTATGTATACACATACATACGTATGTATACACATAC ATACGTATGTATACACATACATACATACGTAT		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2249		chr3	TogoVar
RGS12_chr4_3288021_3444913	3341528	A A	ATGGTGTG others(209): Show ATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGA GGGTGGAGAGTTGGGGGTGTGGGGGGGGGGAGGGTGGAGAGATGGGGGTG TGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGT GGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGG AGGGGAGGGTGGAGAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	312	0.0032	216	c.188 others(235): Show c.1882-1406_1882-1405insTGTGGGGGGAGGGAGGGTGGAGAGAT GGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGGGGG AGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGG TGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGG AGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGG		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(209): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	448	0.0022	216	c.47 others(227): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding					3316		chr21	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(209): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02895.hp2 HG03654.hp2 others(1): Show HG01361.hp1 HG02895.hp2 HG03654.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0028 others(1): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0028 a0001c0001t0066	a0001c0001t0011g0077 a0001c0001t0013g0028 a0001c0001t0028g0031 others(1): Show a0001c0001t0011g0077 a0001c0001t0013g0028 a0001c0001t0028g0031 a0001c0001t0066g0028	4	396	0.0101	216	c.-76 others(225): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(209): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02004.hp1 HG03017.hp1 others(7): Show HG00735.hp2 HG02004.hp1 HG03017.hp1 HG03492.hp2 NA18978.hp1 NA19005.hp2 NA19012.hp2 NA19062.hp1 NA19079.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0020 a0002c0002t0032	a0001c0001t0001g0004 a0001c0001t0001g0163 a0001c0001t0001g0164 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0005g0186 a0001c0001t0018g0003 a0001c0001t0020g0157 a0002c0002t0032g0153	10	396	0.0253	216	c.-76 others(225): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCT		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					275		chr14	TogoVar
RNF17_chr13_24759169_24884921	24882005	G G	GATACATC others(209): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	426	0.0024	216	c.22 others(227): Show c.2279_*2280insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCT		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					2085		chr13	TogoVar
RNF213_chr17_80255852_80403794	80274584	C C	CTGTGGGG others(209): Show CTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGG AGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGT GTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGG GGGGTGAGTGGGGTGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0102 a0102	a0102c0127 a0102c0127	a0102c0127t0016 a0102c0127t0016	a0102c0127t0016g0062 a0102c0127t0016g0062	1	292	0.0034	216	c.261 others(233): Show c.261+1209_261+1210insAGTGAGTGGGGTGAGTGTGGAGGGTGAG TGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGTCTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315318	G G	GAGGTAAT others(209): Show GAGGTAATGGAGGTGATGGTGGTCGTGGAGGTGATGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGG TCGTGGAGGTGATGGTGGTGGTGGTAATGGAGGTGATGGTGGTGGTACTG GAGGTGATGGTGGTGGTGAAGGTGATGGTAGAGGTAATGGAAGTGATGGT GGAGGTACTGGAGGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0062 a0062	a0062c0109 a0062c0109	a0062c0109t0064 a0062c0109t0064	a0062c0109t0064g0084 a0062c0109t0064g0084	1	292	0.0034	216	c.281 others(235): Show c.2812-1870_2812-1869insAGGTAATGGAGGTGATGGTGGTCGTG GAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTACTGGAGGTGATGGTGGTCGTGGAGGTGATGGTGGTGGTGGTAA TGGAGGTGATGGTGGTGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATG GTAGAGGTAATGGAAGTGATGGTGGAGGTACTGGAGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RPA3_chr7_7631518_7723607	7678637	G G	GATAAATA others(209): Show GATAAATATATATTTATATACTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAAT ATTTATATATTTAGTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG01081.hp2 others(15): Show HG00140.hp1 HG00438.hp1 HG01081.hp2 HG01934.hp2 HG02074.hp1 HG02132.hp1 HG02922.hp2 HG03225.hp1 HG03831.hp2 HG04199.hp1 NA18952.hp1 NA18960.hp1 NA18963.hp2 NA18973.hp2 NA18986.hp2 NA18988.hp2 NA18998.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 a0001c0001t0001 a0001c0001t0010 a0001c0001t0020	a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0105 others(15): Show a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0001t0001g0255 a0001c0001t0001g0284 a0001c0001t0010g0155 a0001c0001t0020g0246	18	308	0.0584	216	c.-75 others(235): Show c.-758+7192_-758+7193insAAACTAAATATATAAATATTTATAAA CTAAATACATAAATATATATTTATAAACTAAATACATAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATA TATATTTATCTATAAATTAAGTATATAAATATATATTTAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPH3AL_chr17_207389_357807	287715	T T	TCTCTCTC others(209): Show TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCA CCGTCAGACCTCACACC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	133	0.0075	216	c.352 others(233): Show c.352-5862_352-5861insGGTGTGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGA CGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	340478	C C	CCGGGCTC others(209): Show CCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGCCT CCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACGTCCACAC TCACTGCCCTGGGCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCAC CCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGGCCTCCCCAC ATCCACACTCACTGCCT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0078 a0001c0004t0001g0078	1	133	0.0075	216	c.-21 others(235): Show c.-212-6545_-212-6544insAGGCAGTGAGTGTGGATGTGGGGAGG CCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGC AGTGAGTGTGGATGTGGGGAGGCCTGGGCCCAGGGCAGTGAGTGTGGACG TGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAG CCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743917	T T	TTACTAGC others(209): Show TTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGTACAGCCCTGGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0078 a0001c0009t0078	a0001c0009t0078g0021 a0001c0009t0078g0021	1	196	0.0051	216	c.655 others(235): Show c.655-10085_655-10084insCTATCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGT CCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCA GAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACT AGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCA		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743917	T T	TTACTAGC others(209): Show TTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0077 a0001c0057t0077	a0001c0057t0077g0016 a0001c0057t0077g0016	1	196	0.0051	216	c.655 others(235): Show c.655-10085_655-10084insCTGTCCTGGTTACTAGCACTGTCCTG GTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGC CCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCA CAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTACT AGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCA		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743929	C C	CCCTGGCT others(209): Show CCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGC ACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0146 a0001c0015t0008g0146	1	196	0.0051	216	c.655 others(235): Show c.655-10076_655-10075insCTACTAGCAGAGCCCTGGTTACTAGC ACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744011	T T	TAGCACTG others(209): Show TAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTGCTA GCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0062 a0001c0013t0013g0062	1	196	0.0051	216	c.655 others(233): Show c.655-9994_655-9993insTGTCCTGGTTGCTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGC ACAGCCCTGGTTGCTAGCACTGTCCTGGTTACGAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744160	C C	CAGCCCTG others(209): Show CAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTACT AGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGT TACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCC TGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACGAGCACA GCCCTGGTTACTAGCAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0036 a0001c0008t0036	a0001c0008t0036g0002 a0001c0008t0036g0002	1	196	0.0051	216	c.655 others(233): Show c.655-9842_655-9841insCTACTAGCAGAGCCCTGGCTACTAGCAG AGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744173	T T	TAGCAGAG others(209): Show TAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACTATCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTA GCAGAGCCCTGGCTACG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 HG02486.hp2 HG03041.hp1	a0001 a0001	a0001c0009 a0001c0066 a0001c0009 a0001c0066	a0001c0009t0001 a0001c0066t0058 a0001c0009t0001 a0001c0066t0058	a0001c0009t0001g0125 a0001c0066t0058g0126 a0001c0009t0001g0125 a0001c0066t0058g0126	2	196	0.0102	216	c.655 others(233): Show c.655-9833_655-9832insGAGCCCTGGCTACTAGCAGAGCCCTGGT TACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCC TGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACA GCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACGAG CACAGCCCTGGTTACTAGCAGAGCCCTGGCTACGAGCA		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744205	T T	TTACTAGC others(209): Show TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAG AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0094 a0001c0094	a0001c0094t0057 a0001c0094t0057	a0001c0094t0057g0136 a0001c0094t0057g0136	1	196	0.0051	216	c.655 others(233): Show c.655-9788_655-9787insTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTA GCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744331	C C	CTACTAGC others(209): Show CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTGCTAGCAC TGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCT ACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0096 a0001c0096	a0001c0096t0072 a0001c0096t0072	a0001c0096t0072g0171 a0001c0096t0072g0171	1	196	0.0051	216	c.655 others(233): Show c.655-9670_655-9669insTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGT ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744361	T T	TCCTGGTT others(209): Show TCCTGGTTACTAGCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGG TTACTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATC CTGGCTACTAGCACAGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0007 a0001c0053t0007	a0001c0053t0007g0122 a0001c0053t0007g0122	1	196	0.0051	216	c.655 others(233): Show c.655-9640_655-9639insTAGCACTGTCCTGGCTACTAGTACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTA GTACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCT ACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744541	C C	CCCTGGTT others(209): Show CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0095 a0001c0035t0095	a0001c0035t0095g0041 a0001c0035t0095g0041	1	196	0.0051	216	c.655 others(233): Show c.655-9464_655-9463insTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744601	T T	TTACGAGC others(209): Show TTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0029 a0001c0001t0092g0029	1	196	0.0051	216	c.655 others(233): Show c.655-9406_655-9405insGAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744601	T T	TTACGAGC others(209): Show TTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0050 a0001c0001t0019g0050	1	196	0.0051	216	c.655 others(233): Show c.655-9406_655-9405insGAGCACAGCCCTGGTTACGAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGCTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744721	T T	TCCTGGCT others(209): Show TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGG TTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGCTACTAGCACAGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0004 a0001c0004t0035g0004	1	196	0.0051	216	c.655 others(233): Show c.655-9274_655-9273insAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAG CCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693513	T T	TCCACCAC others(209): Show TCCACCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCTC CACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCACCT CCACCACCTCCACCTCCACCACCACCACCACCACCTCCACCACCACCACC ACCTCCACCTCCACCACCACCACCACCTCCACCTTCACCACCACCACCAC CACCTCCACCTTCACCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	60	0.0167	216	c.299 others(233): Show c.2992+238_2992+239insTCCACCACCTCCACCACCACCACCTCCA CCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCTCC ACCTCCACCACCTCCACCACCTCCACCTCCACCACCACCACCACCACCTC CACCACCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTTCA CCACCACCACCACCACCTCCACCTTCACCACCACCACC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693732	T T	TCCACCAC others(209): Show TCCACCACCTCCACCACCACCACCACCTCCTCCACCTCCACCACCTCCAC CTCCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCA CCACCACCTCCACCACCTCCACCACCACCACCACCACCACCTCCACCACC ACCTCCAACTCCACCACCTCCACCTCCACCTCCACCACCACCTCCACCAC CACCTCCTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	60	0.0167	216	c.299 others(233): Show c.2992+454_2992+455insACCTCCACCACCACCACCACCTCCTCCA CCTCCACCACCTCCACCTCCACCACCTCCACCACCACCTCCACCACCACC ACCTCCACCTCCACCACCACCACCTCCACCACCTCCACCACCACCACCAC CACCACCTCCACCACCACCTCCAACTCCACCACCTCCACCTCCACCTCCA CCACCACCTCCACCACCACCTCCTCCACCTCCACCACC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTP5_chr2_241864729_241878823	241878676	C C	CCCTGAGC others(209): Show CCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCAT CTGAGGCTGCACCTGAGCCCACACCTGAGCCCTCATCTGAGGTTGCACCT GAGCCCTCCCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGA GCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCGTCTGAGG CTACACCTGAGCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(82): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG01081.hp2 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG03492.hp2 HG03669.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA20905.hp2	a0002 a0023 a0002 a0023	a0002c0002 a0023c0026 a0002c0002 a0023c0026	a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 others(7): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0028 a0002c0002t0029 a0002c0002t0031 a0002c0002t0037 a0002c0002t0038 a0023c0026t0026	a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 others(13): Show a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0010g0002 a0002c0002t0015g0002 a0002c0002t0018g0002 a0002c0002t0018g0013 a0002c0002t0028g0002 a0002c0002t0029g0002 a0002c0002t0031g0002 a0002c0002t0037g0002 a0002c0002t0038g0002 a0023c0026t0026g0002	85	365	0.2329	216	c.54 others(227): Show c.5402_*5403insCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCA CACCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCACACCTGAGCCCTCA TCTGAGGTTGCACCTGAGCCCTCCCCTGAGCTCTCGTCTGAGGCTGCACC TGAGCCCACACCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTG AGCTCTCGTCTGAGGCTACACCTGAGCCCACA		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					4854		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878676	C C	CCCTGAGC others(209): Show CCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCAT CTGAGGCTGCACCTGAGCCCACACCTGAGCCCTCATCTGAGGTTGCACCT GAGCCCTCCCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGA GCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCGTCTGAGG CTGCACCTGAGCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0013 a0011c0012t0013	a0011c0012t0013g0013 a0011c0012t0013g0013	1	365	0.0027	216	c.54 others(227): Show c.5402_*5403insCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCA CACCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCACACCTGAGCCCTCA TCTGAGGTTGCACCTGAGCCCTCCCCTGAGCTCTCGTCTGAGGCTGCACC TGAGCCCACACCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTG AGCTCTCGTCTGAGGCTGCACCTGAGCCCACA		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					4854		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878706	G G	GCCCACAC others(209): Show GCCCACACCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCACACCTGAGC CCTCATCTGAGGTTGCACCTGAGCCCTCCCCTGAGCTCTCGTCTGAGGCT GCACCTGAGCCCACACCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCAC ACCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCGT CTGAGGCTGCACCTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02145.hp1 others(9): Show HG01109.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG03130.hp1 HG03195.hp2 NA18522.hp2 NA18906.hp2	a0005 a0006 a0005 a0006	a0005c0005 a0006c0006 a0005c0005 a0006c0006	a0005c0005t0005 a0005c0005t0022 a0006c0006t0007 a0005c0005t0005 a0005c0005t0022 a0006c0006t0007	a0005c0005t0005g0005 a0005c0005t0022g0005 a0006c0006t0007g0009 a0005c0005t0005g0005 a0005c0005t0022g0005 a0006c0006t0007g0009	12	365	0.0329	216	c.54 others(227): Show c.5432_*5433insCCCACACCTGAGCTCTCATCTGAGGCTGCACCTG AGCCCACACCTGAGCCCTCATCTGAGGTTGCACCTGAGCCCTCCCCTGAG CTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCGTCTGAGGC TGCACCTGAGCCCACACCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCA CACCTGAGCTCTCGTCTGAGGCTGCACCTGAT		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					4884		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878713	C C	CCTGAGCT others(209): Show CCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCACACCTGAGCCCTCATC TGAGGTTGCACCTGAGCCCTCCCCTGAGCTCTCGTCTGAGGCTGCACCTG AGCCCACACCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCACACCTGAGC TCTCGTCTGAGGCTACACCTGAGCCCACACCTGAGCTCTCGTCTGAGGCT GCACCTGAGCCCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	216	c.54 others(227): Show c.5439_*5440insCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCAC ACCTGAGCCCTCATCTGAGGTTGCACCTGAGCCCTCCCCTGAGCTCTCGT CTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCGTCTGAGGCTGCACCT GAGCCACACCTGAGCTCTCGTCTGAGGCTACACCTGAGCCCACACCTGAG CTCTCGTCTGAGGCTGCACCTGAGCCCACACA		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					4891		chr2	TogoVar
RUBCN_chr3_197663867_197741904	197727990	T T	TACATGCC others(209): Show TACATGCCTGTAGTCCCAGCTCCTCAGGAGGCTGAAGCAGGAGGACTGCC TGACCTATGCTGGGCACAGTGGCACATGCCTGTAGTCCCAGCTCCTCAGG AGGCTGAAGCAGGAGGACTGCCTGACCTATGCTGGGCACAGTGGCACATG CCTGTAGTCCCAGCTCCTCAGGAGGCTGAAGCAGGAGGACTGCCTGACCT ATGCTGGGCACAGTGGC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02717.hp2 HG02135.hp2 HG02717.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0014 a0001c0002 a0009c0014	a0001c0002t0029 a0009c0014t0001 a0001c0002t0029 a0009c0014t0001	a0001c0002t0029g0098 a0009c0014t0001g0132 a0001c0002t0029g0098 a0009c0014t0001g0132	2	186	0.0108	216	c.65+ others(231): Show c.65+8664_65+8665insGCCACTGTGCCCAGCATAGGTCAGGCAGTC CTCCTGCTTCAGCCTCCTGAGGAGCTGGGACTACAGGCATGTGCCACTGT GCCCAGCATAGGTCAGGCAGTCCTCCTGCTTCAGCCTCCTGAGGAGCTGG GACTACAGGCATGTGCCACTGTGCCCAGCATAGGTCAGGCAGTCCTCCTG CTTCAGCCTCCTGAGGAGCTGGGACTACAGGCATGT		RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	1/19						chr3	TogoVar
SBSN_chr19_35518367_35533311	35527213	C C	CATGGTGG others(209): Show CATGGTGGACCCCCTGGCCAAACTTCTCTGTCTCCTTCCAGCCCTCACTG AGACCATGGTGGACCCCCTGGCCAAACCTCCCAGCCTCATTTCCGGCCTG CCCCGCAGCATGGTGGGCCCCCTGGCCAAATCTCCCTGCCTCATTTCCGG CCTGCCCCGCAGCATGGTGGGCCCCCTGGCCAAACTTCTCTGCCTCCTTC CCAACCTGACCAGCAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00609.hp1 HG00642.hp2 HG00673.hp2 others(60): Show HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp2 HG02129.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02970.hp1 HG02976.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 NA18747.hp2 NA18943.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18973.hp2 NA18978.hp2 NA18997.hp1 NA19002.hp2 NA19043.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0003 a0010 a0019 a0003 a0010 a0019	a0003c0004 a0003c0016 a0003c0030 others(2): Show a0003c0004 a0003c0016 a0003c0030 a0010c0017 a0019c0031	a0003c0004t0001 a0003c0016t0001 a0003c0030t0001 others(2): Show a0003c0004t0001 a0003c0016t0001 a0003c0030t0001 a0010c0017t0001 a0019c0031t0001	a0003c0004t0001g0003 a0003c0004t0001g0024 a0003c0004t0001g0029 others(13): Show a0003c0004t0001g0003 a0003c0004t0001g0024 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0057 a0003c0004t0001g0058 a0003c0004t0001g0060 a0003c0004t0001g0061 a0003c0004t0001g0062 a0003c0004t0001g0063 a0003c0004t0001g0064 a0003c0016t0001g0040 a0003c0016t0001g0041 a0003c0030t0001g0059 a0010c0017t0001g0027 a0019c0031t0001g0065	63	450	0.1400	216	c.853 others(224): Show c.853_1068dupACTGCTGGTCAGGTTGGGAAGGAGGCAGAGAAGTTTG GCCAGGGGGCCCACCATGCTGCGGGGCAGGCCGGAAATGAGGCAGGGAGA TTTGGCCAGGGGGCCCACCATGCTGCGGGGCAGGCCGGAAATGAGGCTGG GAGGTTTGGCCAGGGGGTCCACCATGGTCTCAGTGAGGGCTGGAAGGAGA CAGAGAAGTTTGGCCAGGGGGTCCACCAT	p.His others(229): Show p.His356_Ala357insThrAlaGlyGlnValGlyLysGluAlaGluLy sPheGlyGlnGlyAlaHisHisAlaAlaGlyGlnAlaGlyAsnGluAlaG lyArgPheGlyGlnGlyAlaHisHisAlaAlaGlyGlnAlaGlyAsnGlu AlaGlyArgPheGlyGlnGlyValHisHisGlyLeuSerGluGlyTrpLy sGluThrGluLysPheGlyGlnGlyValHisHis	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding	1/4	1098/1946	1068/1773	356/590			chr19	TogoVar
SBSN_chr19_35518367_35533311	35527390	G G	GGCCAAAC others(209): Show GGCCAAACTTCTCTGCCTCCTTCCCAACCTGACCAGCAGTATGGTGGACC CCCTGGCCAAACTTCTCTGTCTCCTTCCAGCCCTCACTGAGACCATGGTG GACCCCCTGGCCAAACCTCCCAGCCTCATTTCCGGCCTGCCCCGCAGCAT GGTGGGCCCCCTGGCCAAATCTCCCTGCCTCATTTCCGGCCTGCCCCGCA GCATGGTGGGCCCCCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03017.hp1 HG03017.hp1	a0017 a0017	a0017c0039 a0017c0039	a0017c0039t0001 a0017c0039t0001	a0017c0039t0001g0096 a0017c0039t0001g0096	1	450	0.0022	216	c.891 others(223): Show c.891_892insGAGGGGGCCCACCATGCTGCGGGGCAGGCCGGAAATGA GGCAGGGAGATTTGGCCAGGGGGCCCACCATGCTGCGGGGCAGGCCGGAA ATGAGGCTGGGAGGTTTGGCCAGGGGGTCCACCATGGTCTCAGTGAGGGC TGGAAGGAGACAGAGAAGTTTGGCCAGGGGGTCCACCATACTGCTGGTCA GGTTGGGAAGGAGGCAGAGAAGTTTGGC	p.Gly others(229): Show p.Gly297_Gln298insGluGlyAlaHisHisAlaAlaGlyGlnAlaGl yAsnGluAlaGlyArgPheGlyGlnGlyAlaHisHisAlaAlaGlyGlnA laGlyAsnGluAlaGlyArgPheGlyGlnGlyValHisHisGlyLeuSer GluGlyTrpLysGluThrGluLysPheGlyGlnGlyValHisHisThrAl aGlyGlnValGlyLysGluAlaGluLysPheGly	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding	1/4	921/1946	891/1773	297/590			chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159680705	T T	TATAATAT others(209): Show TATAATATATGTATATATAATATACATATATTATATATGTATATATACAT ATATAATATATGTATATATAATATACATATATAATATATGTATATATAAT ATACATATATAATATATGTATATATATATACATATATAATATATGTATAT ATATATACATATATAATATATGTATATATATATAATATACATATATTATA TATGTATATATAATATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	100	0.0100	216	c.64- others(233): Show c.64-83738_64-83737insATAATATATGTATATATAATATACATAT ATTATATATGTATATATACATATATAATATATGTATATATAATATACATA TATAATATATGTATATATAATATACATATATAATATATGTATATATATAT ACATATATAATATATGTATATATATATACATATATAATATATGTATATAT ATATAATATACATATATTATATATGTATATATAATATA		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7						chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCGTGTCT others(209): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC CCGAGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	290	0.0035	216	c.166 others(235): Show c.1663-1103_1663-1102insGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar

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