Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	status	chr	external
RPTOR_chr17_80539838_80971368	80743929	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0081 a0001c0008t0081	a0001c0008t0081g0019 a0001c0008t0081g0019	1	196	0.0051	18	c.655 others(37): Show c.655-10076_655-10075insCTACTAGCACTCTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743947	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03239.hp2 HG03017.hp2 HG03239.hp2	a0001 a0001	a0001c0031 a0001c0035 a0001c0031 a0001c0035	a0001c0031t0011 a0001c0035t0095 a0001c0031t0011 a0001c0035t0095	a0001c0031t0011g0073 a0001c0035t0095g0041 a0001c0031t0011g0073 a0001c0035t0095g0041	2	196	0.0102	18	c.655 others(37): Show c.655-10048_655-10047insTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743953	C C	CTACTAGC others(11): Show CTACTAGCACAGCCCTGGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0081 a0001c0008t0081	a0001c0008t0081g0019 a0001c0008t0081g0019	1	196	0.0051	18	c.655 others(37): Show c.655-10040_655-10039insTTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743993	G G	GAGCACTG others(11): Show GAGCACTGTCCTGGCTACT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG02809.hp2 HG02970.hp1	a0001 a0001	a0001c0020 a0001c0045 a0001c0020 a0001c0045	a0001c0020t0093 a0001c0045t0091 a0001c0020t0093 a0001c0045t0091	a0001c0020t0093g0034 a0001c0045t0091g0036 a0001c0020t0093g0034 a0001c0045t0091g0036	2	196	0.0102	18	c.655 others(37): Show c.655-10012_655-10011insTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744001	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03098.hp1 HG01081.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0037 a0001c0005 a0001c0037	a0001c0005t0026 a0001c0037t0053 a0001c0005t0026 a0001c0037t0053	a0001c0005t0026g0151 a0001c0037t0053g0138 a0001c0005t0026g0151 a0001c0037t0053g0138	2	196	0.0102	18	c.655 others(37): Show c.655-10004_655-10003insCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744007	T T	TTACGAGC others(11): Show TTACGAGCACTGTCCTGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19009.hp2 HG00621.hp2 NA19009.hp2	a0001 a0001	a0001c0018 a0001c0058 a0001c0018 a0001c0058	a0001c0018t0009 a0001c0058t0004 a0001c0018t0009 a0001c0058t0004	a0001c0018t0009g0066 a0001c0058t0004g0156 a0001c0018t0009g0066 a0001c0058t0004g0156	2	196	0.0102	18	c.655 others(36): Show c.655-10000_655-9999insGAGCACTGTCCTGGCTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744007	T T	TTACTAGC others(11): Show TTACTAGCACTATCCTGGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 NA18747.hp1 HG02486.hp2 HG02647.hp2 NA18747.hp1	a0001 a0001	a0001c0007 a0001c0009 a0001c0034 a0001c0007 a0001c0009 a0001c0034	a0001c0007t0069 a0001c0009t0001 a0001c0034t0004 a0001c0007t0069 a0001c0009t0001 a0001c0034t0004	a0001c0007t0069g0128 a0001c0009t0001g0125 a0001c0034t0004g0133 a0001c0007t0069g0128 a0001c0009t0001g0125 a0001c0034t0004g0133	3	196	0.0153	18	c.655 others(35): Show c.655-9994_655-9993insTATCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744027	A A	ACTAGCAC others(11): Show ACTAGCACTGTCCTGGTTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0017 a0001c0018t0017	a0001c0018t0017g0140 a0001c0018t0017g0140	1	196	0.0051	18	c.655 others(35): Show c.655-9976_655-9975insTGTCCTGGTTGCTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744037	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp1 HG03540.hp1 others(1): Show HG00735.hp2 HG01361.hp1 HG03540.hp1 NA19066.hp1	a0001 a0001	a0001c0015 a0001c0016 a0001c0093 others(1): Show a0001c0015 a0001c0016 a0001c0093 a0001c0097	a0001c0015t0008 a0001c0016t0029 a0001c0093t0070 others(1): Show a0001c0015t0008 a0001c0016t0029 a0001c0093t0070 a0001c0097t0001	a0001c0015t0008g0139 a0001c0016t0029g0193 a0001c0093t0070g0155 others(1): Show a0001c0015t0008g0139 a0001c0016t0029g0193 a0001c0093t0070g0155 a0001c0097t0001g0157	4	196	0.0204	18	c.655 others(35): Show c.655-9968_655-9967insCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744083	G G	GAGCACTG others(11): Show GAGCACTGTCCTGGCTACT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0006 a0001c0064t0006	a0001c0064t0006g0106 a0001c0064t0006g0106	1	196	0.0051	18	c.655 others(35): Show c.655-9922_655-9921insTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744097	T T	TTACTAGC others(11): Show TTACTAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0062 a0002c0062	a0002c0062t0018 a0002c0062t0018	a0002c0062t0018g0191 a0002c0062t0018g0191	1	196	0.0051	18	c.655 others(35): Show c.655-9896_655-9895insCTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744109	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0063 a0001c0006t0063	a0001c0006t0063g0160 a0001c0006t0063g0160	1	196	0.0051	18	c.655 others(35): Show c.655-9896_655-9895insCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744127	C C	CCCTGGTT others(11): Show CCCTGGTTACGAGCACTGT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA20300.hp1 NA19009.hp2 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0058 a0001c0006 a0001c0058	a0001c0006t0013 a0001c0058t0004 a0001c0006t0013 a0001c0058t0004	a0001c0006t0013g0068 a0001c0058t0004g0156 a0001c0006t0013g0068 a0001c0058t0004g0156	2	196	0.0102	18	c.655 others(35): Show c.655-9878_655-9877insTTACGAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744169	T T	TTACGAGC others(11): Show TTACGAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0074 a0001c0005t0074	a0001c0005t0074g0008 a0001c0005t0074g0008	1	196	0.0051	18	c.655 others(35): Show c.655-9838_655-9837insGAGCACAGCCCTGGCTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744181	T T	TCCTGGTT others(11): Show TCCTGGTTACTAGCAGAGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0063 a0001c0006t0063	a0001c0006t0063g0160 a0001c0006t0063g0160	1	196	0.0051	18	c.655 others(35): Show c.655-9824_655-9823insTTACTAGCAGAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744217	T T	TCCTGGTT others(11): Show TCCTGGTTACTAGCACAGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0082 a0004c0082	a0004c0082t0010 a0004c0082t0010	a0004c0082t0010g0052 a0004c0082t0010g0052	1	196	0.0051	18	c.655 others(35): Show c.655-9788_655-9787insTTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744271	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03669.hp2 HG02647.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0005 a0001c0007t0069 a0001c0001t0005 a0001c0007t0069	a0001c0001t0005g0042 a0001c0007t0069g0128 a0001c0001t0005g0042 a0001c0007t0069g0128	2	196	0.0102	18	c.655 others(35): Show c.655-9734_655-9733insCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744281	T T	TAGCACAG others(11): Show TAGCACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0082 a0004c0082	a0004c0082t0010 a0004c0082t0010	a0004c0082t0010g0052 a0004c0082t0010g0052	1	196	0.0051	18	c.655 others(35): Show c.655-9724_655-9723insAGCCCTGGTTACGAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744281	T T	TAGCACTG others(11): Show TAGCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0029 a0001c0011t0029	a0001c0011t0029g0196 a0001c0011t0029g0196	1	196	0.0051	18	c.655 others(35): Show c.655-9716_655-9715insTTACGAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744295	C C	CTACTAGC others(11): Show CTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0095 a0001c0035t0095	a0001c0035t0095g0041 a0001c0035t0095g0041	1	196	0.0051	18	c.655 others(35): Show c.655-9706_655-9705insTGTCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744302	C C	CACTGTCC others(11): Show CACTGTCCTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0007 a0001c0053t0007	a0001c0053t0007g0122 a0001c0053t0007g0122	1	196	0.0051	18	c.655 others(35): Show c.655-9706_655-9705insTGTCCTGGCTACTAGTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744307	C C	CCCTGGTT others(11): Show CCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0075 a0001c0005t0075	a0001c0005t0075g0009 a0001c0005t0075g0009	1	196	0.0051	18	c.655 others(35): Show c.655-9688_655-9687insTGTCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744315	A A	ACTAGCAC others(11): Show ACTAGCACTGTCCTGGTTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0008 a0001c0023t0008	a0001c0023t0008g0134 a0001c0023t0008g0134	1	196	0.0051	18	c.655 others(35): Show c.655-9688_655-9687insTGTCCTGGTTGCTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744325	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp1 HG00735.hp2 HG01255.hp1	a0001 a0001	a0001c0090 a0001c0093 a0001c0090 a0001c0093	a0001c0090t0001 a0001c0093t0070 a0001c0090t0001 a0001c0093t0070	a0001c0090t0001g0161 a0001c0093t0070g0155 a0001c0090t0001g0161 a0001c0093t0070g0155	2	196	0.0102	18	c.655 others(35): Show c.655-9670_655-9669insTGTCCTGGCTACTAGCAC	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(11): Show CTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03486.hp2 HG02970.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0082 a0001c0008t0027 a0001c0006t0082 a0001c0008t0027	a0001c0006t0082g0015 a0001c0008t0027g0143 a0001c0006t0082g0015 a0001c0008t0027g0143	2	196	0.0102	18	c.655 others(35): Show c.655-9670_655-9669insTGTCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744335	T T	TAGCACAG others(11): Show TAGCACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0074 a0001c0005t0074	a0001c0005t0074g0008 a0001c0005t0074g0008	1	196	0.0051	18	c.655 others(35): Show c.655-9662_655-9661insTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744367	T T	TTACTAGC others(11): Show TTACTAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	196	0.0051	18	c.655 others(35): Show c.655-9640_655-9639insTAGCACAGCCCTGGCTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744397	T T	TCCTGGTT others(11): Show TCCTGGTTGCTAGCACAGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0032 a0001c0074t0032	a0001c0074t0032g0061 a0001c0074t0032g0061	1	196	0.0051	18	c.655 others(35): Show c.655-9608_655-9607insTTGCTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744403	C C	CTACTAGC others(11): Show CTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0082 a0004c0082	a0004c0082t0010 a0004c0082t0010	a0004c0082t0010g0052 a0004c0082t0010g0052	1	196	0.0051	18	c.655 others(35): Show c.655-9598_655-9597insTGTCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744407	T T	TAGCACAG others(11): Show TAGCACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0002 a0001c0073t0002	a0001c0073t0002g0070 a0001c0073t0002g0070	1	196	0.0051	18	c.655 others(35): Show c.655-9590_655-9589insTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744415	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0004 a0001c0034t0004	a0001c0034t0004g0133 a0001c0034t0004g0133	1	196	0.0051	18	c.655 others(35): Show c.655-9580_655-9579insTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744439	C C	CTACTAGC others(11): Show CTACTAGCACAGCCCTGGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0132 a0001c0022t0001g0132	1	196	0.0051	18	c.655 others(35): Show c.655-9562_655-9561insAGCCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744459	A A	ACTAGCAC others(11): Show ACTAGCACAGCCCTGGTTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03239.hp1 NA19066.hp1 HG01255.hp1 HG03239.hp1 NA19066.hp1	a0001 a0001	a0001c0083 a0001c0090 a0001c0097 a0001c0083 a0001c0090 a0001c0097	a0001c0083t0028 a0001c0090t0001 a0001c0097t0001 a0001c0083t0028 a0001c0090t0001 a0001c0097t0001	a0001c0083t0028g0158 a0001c0090t0001g0161 a0001c0097t0001g0157 a0001c0083t0028g0158 a0001c0090t0001g0161 a0001c0097t0001g0157	3	196	0.0153	18	c.655 others(35): Show c.655-9534_655-9533insGCTAGCACAGCCCTGGTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744469	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0005 a0001c0019t0005	a0001c0019t0005g0037 a0001c0019t0005g0037	1	196	0.0051	18	c.655 others(35): Show c.655-9536_655-9535insCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744482	C C	CACTATCC others(11): Show CACTATCCTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03453.hp1 HG03540.hp1 others(1): Show HG01081.hp1 HG03453.hp1 HG03540.hp1 NA20752.hp2	a0001 a0001	a0001c0016 a0001c0031 a0001c0037 others(1): Show a0001c0016 a0001c0031 a0001c0037 a0001c0095	a0001c0016t0029 a0001c0031t0027 a0001c0037t0053 others(1): Show a0001c0016t0029 a0001c0031t0027 a0001c0037t0053 a0001c0095t0003	a0001c0016t0029g0193 a0001c0031t0027g0173 a0001c0037t0053g0138 others(1): Show a0001c0016t0029g0193 a0001c0031t0027g0173 a0001c0037t0053g0138 a0001c0095t0003g0137	4	196	0.0204	18	c.655 others(35): Show c.655-9526_655-9525insTATCCTGGCTACTAGTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03017.hp2 HG01070.hp2 HG03017.hp2	a0001 a0001	a0001c0014 a0001c0031 a0001c0014 a0001c0031	a0001c0014t0002 a0001c0031t0011 a0001c0014t0002 a0001c0031t0011	a0001c0014t0002g0032 a0001c0031t0011g0073 a0001c0014t0002g0032 a0001c0031t0011g0073	2	196	0.0102	18	c.655 others(35): Show c.655-9517_655-9500dupCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744523	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02280.hp1 HG03491.hp1 HG00099.hp1 HG02280.hp1 HG03491.hp1	a0001 a0001	a0001c0026 a0001c0034 a0001c0094 a0001c0026 a0001c0034 a0001c0094	a0001c0026t0010 a0001c0034t0004 a0001c0094t0057 a0001c0026t0010 a0001c0034t0004 a0001c0094t0057	a0001c0026t0010g0045 a0001c0034t0004g0187 a0001c0094t0057g0136 a0001c0026t0010g0045 a0001c0034t0004g0187 a0001c0094t0057g0136	3	196	0.0153	18	c.655 others(35): Show c.655-9472_655-9471insTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744524	C C	CCTGGCTA others(11): Show CCTGGCTACTAGCACTGTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 NA19030.hp2 HG02630.hp1 HG03209.hp1 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0011 a0001c0029 a0001c0009 a0001c0011 a0001c0029	a0001c0009t0078 a0001c0011t0062 a0001c0029t0025 a0001c0009t0078 a0001c0011t0062 a0001c0029t0025	a0001c0009t0078g0021 a0001c0011t0062g0114 a0001c0029t0025g0153 a0001c0009t0078g0021 a0001c0011t0062g0114 a0001c0029t0025g0153	3	196	0.0153	18	c.655 others(35): Show c.655-9472_655-9471insTGTTCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744577	C C	CCCTGGTT others(11): Show CCCTGGTTACGAGCACTGT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0023 a0001c0004t0033g0023	1	196	0.0051	18	c.655 others(35): Show c.655-9428_655-9427insTTACGAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744613	C C	CCCTGGTT others(11): Show CCCTGGTTGCTAGCACTGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0132 a0001c0022t0001g0132	1	196	0.0051	18	c.655 others(35): Show c.655-9390_655-9389insGCTAGCACTGTCCTGGTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744619	T T	TTACTAGC others(11): Show TTACTAGCACTATCCTGGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0151 a0001c0005t0026g0151	1	196	0.0051	18	c.655 others(35): Show c.655-9383_655-9382insCTATCCTGGCTACTAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744619	T T	TTACTAGC others(11): Show TTACTAGCACTGTCCTGGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0093 a0001c0020t0093	a0001c0020t0093g0034 a0001c0020t0093g0034	1	196	0.0051	18	c.655 others(35): Show c.655-9383_655-9382insCTGTCCTGGCTACTAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744626	C C	CACTATCC others(11): Show CACTATCCTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01978.hp1 HG02165.hp1 others(3): Show HG01361.hp1 HG01978.hp1 HG02165.hp1 HG02602.hp2 HG04204.hp1 NA18747.hp1	a0001 a0001	a0001c0003 a0001c0015 a0001c0023 others(2): Show a0001c0003 a0001c0015 a0001c0023 a0001c0034 a0001c0074	a0001c0003t0001 a0001c0015t0008 a0001c0023t0008 others(2): Show a0001c0003t0001 a0001c0015t0008 a0001c0023t0008 a0001c0034t0004 a0001c0074t0032	a0001c0003t0001g0154 a0001c0015t0008g0139 a0001c0015t0008g0146 others(3): Show a0001c0003t0001g0154 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0023t0008g0134 a0001c0034t0004g0133 a0001c0074t0032g0061	6	196	0.0306	18	c.655 others(35): Show c.655-9383_655-9382insCTATCCTGGCTACTAGTA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744649	T T	TCCTGGTT others(11): Show TCCTGGTTGCTAGCACAGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01516.hp2 HG01517.hp2 others(1): Show HG01099.hp1 HG01516.hp2 HG01517.hp2 HG02451.hp2	a0001 a0001	a0001c0036 a0001c0071 a0001c0086 a0001c0036 a0001c0071 a0001c0086	a0001c0036t0004 a0001c0071t0088 a0001c0086t0004 a0001c0036t0004 a0001c0071t0088 a0001c0086t0004	a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0071t0088g0035 others(1): Show a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0071t0088g0035 a0001c0086t0004g0172	4	196	0.0204	18	c.655 others(35): Show c.655-9354_655-9353insGCTAGCACAGCCCTGGTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744667	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp1 HG03831.hp2 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0084 a0001c0003 a0001c0084	a0001c0003t0010 a0001c0084t0059 a0001c0003t0010 a0001c0084t0059	a0001c0003t0010g0069 a0001c0084t0059g0165 a0001c0003t0010g0069 a0001c0084t0059g0165	2	196	0.0102	18	c.655 others(35): Show c.655-9328_655-9327insTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744721	T T	TCCTGGTT others(11): Show TCCTGGTTACGAGCACAGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0017 a0001c0018t0017	a0001c0018t0017g0140 a0001c0018t0017g0140	1	196	0.0051	18	c.655 others(35): Show c.655-9284_655-9283insTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744793	C C	CCCTGGTT others(11): Show CCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0082 a0001c0006t0082	a0001c0006t0082g0015 a0001c0006t0082g0015	1	196	0.0051	18	c.655 others(35): Show c.655-9212_655-9211insTTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744803	T T	TAGCACAG others(11): Show TAGCACAGCCCTGGTTACG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	196	0.0051	18	c.655 others(35): Show c.655-9202_655-9201insAGCCCTGGTTACGAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744847	T T	TCCTGGCT others(11): Show TCCTGGCTACTAGTACAGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03834.hp1 HG02451.hp2 HG03834.hp1	a0001 a0001	a0001c0071 a0001c0084 a0001c0071 a0001c0084	a0001c0071t0088 a0001c0084t0059 a0001c0071t0088 a0001c0084t0059	a0001c0071t0088g0035 a0001c0084t0059g0165 a0001c0071t0088g0035 a0001c0084t0059g0165	2	196	0.0102	18	c.655 others(35): Show c.655-9151_655-9150insTACAGCCCTGGCTACTAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744847	T T	TCCTGGTT others(11): Show TCCTGGTTACGAGCACAGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0151 a0001c0005t0026g0151	1	196	0.0051	18	c.655 others(35): Show c.655-9158_655-9157insTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33	INFO_REALIGN_3_PRIME	chr17	TogoVar

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