Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PTTG1IP_chr21_44844598_44878690	44863122	A A	ACAGAGAC others(23): Show ACAGAGACACAGCCCACCACAGCCTCAGCAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02109.hp1 HG02145.hp2 others(16): Show HG01081.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG06807.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0026 a0001c0001t0007 a0001c0001t0008 a0001c0001t0026	a0001c0001t0007g0008 a0001c0001t0007g0053 a0001c0001t0007g0255 others(11): Show a0001c0001t0007g0008 a0001c0001t0007g0053 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0259 a0001c0001t0007g0260 a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0088 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0026g0258	19	218	0.0872	30	c.169 others(47): Show c.169-1852_169-1851insCTGCTGAGGCTGTGGTGGGCTGTGTCTC TG		PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5						chr21	TogoVar
PTTG1IP_chr21_44844598_44878690	44863122	A A	ACAGAGAC others(23): Show ACAGAGACACAGCCCACCACGGCCTCAGCAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00642.hp1 others(92): Show HG00323.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19066.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0030	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(56): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0272 a0001c0001t0002g0280 a0001c0001t0002g0285 a0001c0001t0003g0283 a0001c0001t0006g0284 a0001c0001t0006g0286 a0001c0001t0030g0147	95	294	0.3231	30	c.169 others(47): Show c.169-1881_169-1852dupCTGCTGAGGCCGTGGTGGGCTGTGTCTC TG		PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5						chr21	TogoVar
PUM1_chr1_30926506_31070717	30972274	A A	AAGGGGAG others(23): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19011.hp2 NA19082.hp1 HG00621.hp2 NA19011.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0150 a0001c0001t0002g0213 a0001c0001t0002g0089 a0001c0001t0002g0150 a0001c0001t0002g0213	3	162	0.0185	30	c.150 others(49): Show c.1506+2376_1506+2377insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	30972279	A A	AAGGGGAG others(23): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	146	0.0068	30	c.150 others(49): Show c.1506+2371_1506+2372insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0176 a0001c0001t0018g0176	1	94	0.0106	30	c.364 others(49): Show c.364-10121_364-10120insAAAAAATATATATATATATATATATA TATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	94	0.0106	30	c.364 others(49): Show c.364-10121_364-10120insAAAAAAAATATATATATATATATATA TATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18961.hp1 NA18960.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0267 a0001c0001t0001g0137 a0001c0001t0001g0267	2	95	0.0211	30	c.364 others(49): Show c.364-10121_364-10120insAAAAAAAAAATATATATATATATATA TATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	94	0.0106	30	c.364 others(49): Show c.364-10121_364-10120insAAAAAAAAAAAATATATATATATATA TATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	94	0.0106	30	c.364 others(49): Show c.364-10121_364-10120insAAAAAAAAAAAAAAAAAATATATATA TATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0004 a0001c0001t0020g0004	1	143	0.0070	30	c.195 others(47): Show c.1958-937_1958-908dupATATATATATATATATATATATATATAT AT		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20						chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01358.hp2 HG03942.hp2 others(1): Show HG01106.hp1 HG01358.hp2 HG03942.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0105 a0001c0001t0001g0164 a0001c0001t0001g0211 others(1): Show a0001c0001t0001g0105 a0001c0001t0001g0164 a0001c0001t0001g0211 a0001c0001t0011g0346	4	9	0.4444	30	c.195 others(49): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20						chr2	TogoVar
PUM2_chr2_20243737_20355844	20355550	G G	GATTAACA others(23): Show GATTAACAGTCTGACTTTTGCTGAGCGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	356	0.0028	30	c.-49 others(41): Show c.-4973_-4972insACCGCGCTCAGCAAAAGTCAGACTGTTAAT		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding					4707		chr2	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0001	1	193	0.0052	30	c.11 others(43): Show c.11568_*11569insATATATATATATATATATATTTTTTTTTTT		PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding					184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02717.hp2 others(3): Show HG02572.hp2 HG02615.hp1 HG02717.hp2 NA18906.hp1 NA19043.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0312 a0001c0001t0005g0050 a0001c0001t0007g0229	6	11	0.5455	30	c.21 others(41): Show c.2184_*2213dupATATATATATATATATATATATATATATAT		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding					926		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	132	0.0076	30	c.17 others(41): Show c.1713_*1714insATATATATATATATATATATATATATTTTT		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding					426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456102	T T	TATATATA others(23): Show TATATATATATATATATATATATAAATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 NA19043.hp1 HG01175.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0002g0310 a0001c0001t0001g0056 a0001c0001t0002g0310	2	12	0.1667	30	c.16 others(41): Show c.1687_*1688insTTATATTTATATATATATATATATATATAT		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding					400		chr7	TogoVar
PVR_chr19_44638910_44671162	44667953	T T	TATAATAT others(23): Show TATAATATATAAAATATATATAAATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG02630.hp1 HG02258.hp1 HG02622.hp2 HG02630.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0105 a0001c0001t0106 a0003c0003t0115 a0001c0001t0105 a0001c0001t0106 a0003c0003t0115	a0001c0001t0105g0085 a0001c0001t0106g0084 a0003c0003t0115g0011 a0001c0001t0105g0085 a0001c0001t0106g0084 a0003c0003t0115g0011	3	357	0.0084	30	c.61 others(41): Show c.6142_*6143insATAATATATAAAATATATATAAATTATATA		PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding					1792		chr19	TogoVar
PWWP2A_chr5_160086339_160124450	160092013	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp2 NA18612.hp2 HG01934.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0003t0019 a0001c0001t0019 a0001c0003t0019	a0001c0001t0019g0022 a0001c0003t0019g0269 a0001c0001t0019g0022 a0001c0003t0019g0269	2	140	0.0143	30	c.36 others(39): Show c.368_*369insATATATATATATATATATATATATATATAT		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	2/2				368		chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(23): Show AATGGTGATGATGGTGATGGTGATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0169 a0002c0003t0001g0169	1	316	0.0032	30	c.-46 others(41): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTG		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4639		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51608002	G G	GAAGAAAG others(23): Show GAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0001 a0003c0033t0001	a0003c0033t0001g0036 a0003c0033t0001g0036	1	110	0.0091	30	c.237 others(49): Show c.237-15305_237-15304insTCTTTCTTTCTTTCTCTTTCTTTCTT TCTT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22						chr8	TogoVar
PXDNL_chr8_51314577_51814445	51644318	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18948.hp1 HG03579.hp1 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0093 a0002c0002t0001g0053 a0001c0001t0002g0093 a0002c0002t0001g0053	2	78	0.0256	30	c.236 others(49): Show c.236+10370_236+10371insTATATATATATATATATATATATATA TATA		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22						chr8	TogoVar
PXDNL_chr8_51314577_51814445	51683164	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0005 a0005	a0005c0028 a0005c0028	a0005c0028t0001 a0005c0028t0001	a0005c0028t0001g0083 a0005c0028t0001g0083	1	6	0.1667	30	c.165 others(49): Show c.165-28434_165-28405dupATATATATATATATATATATATATAT ATAT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22						chr8	TogoVar
PXDNL_chr8_51314577_51814445	51733812	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	25	0.0400	30	c.164 others(49): Show c.164+75368_164+75369insATATATATATATATATATATATATAT ATAT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22						chr8	TogoVar
PXDN_chr2_1626887_1749515	1711013	T T	TCTCCACC others(23): Show TCTCCACCAGCACCCGCTCCACCAGCACCCA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02145.hp1 HG02615.hp2 others(3): Show HG01993.hp1 HG02145.hp1 HG02615.hp2 HG02965.hp1 HG03516.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0039 a0001c0044 a0002c0009	a0001c0001t0001 a0001c0002t0003 a0001c0003t0008 others(3): Show a0001c0001t0001 a0001c0002t0003 a0001c0003t0008 a0001c0039t0006 a0001c0044t0025 a0002c0009t0011	a0001c0001t0001g0193 a0001c0002t0003g0131 a0001c0003t0008g0305 others(3): Show a0001c0001t0001g0193 a0001c0002t0003g0131 a0001c0003t0008g0305 a0001c0039t0006g0045 a0001c0044t0025g0210 a0002c0009t0011g0301	6	320	0.0188	30	c.201 others(49): Show c.201-17880_201-17879insTGGGTGCTGGTGGAGCGGGTGCTGGT GGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
PXMP4_chr20_33697758_33725310	33717639	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0117 a0001c0001t0007g0117	1	208	0.0048	30	c.113 others(47): Show c.113+2455_113+2456insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding	1/3						chr20	TogoVar
PXYLP1_chr3_141226825_141299924	141248620	C C	CACACACG others(23): Show CACACACGTATATATACACACGTGTATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	375	0.0027	30	c.-53 others(49): Show c.-53-11482_-53-11453dupGTGTATATATACACACGTATATATAC ACAC		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141248659	A A	ATATATAC others(23): Show ATATATACACACACGTGTATATATACACACG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	368	0.0027	30	c.-53 others(49): Show c.-53-11397_-53-11368dupCACACACGTGTATATATACACACGTA TATA		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA18980.hp1 NA18987.hp2 others(3): Show HG02622.hp1 NA18980.hp1 NA18987.hp2 NA18997.hp1 NA19056.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	108	0.0556	30	c.15 others(41): Show c.1564_*1565insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding					1565		chr3	TogoVar
PZP_chr12_9143840_9213395	9185790	A A	ATTTCTTT others(23): Show ATTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG01070.hp1 others(23): Show HG00609.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp1 HG01243.hp1 HG01346.hp1 HG01496.hp1 HG01952.hp2 HG01978.hp1 HG02083.hp1 HG02155.hp1 HG02280.hp1 HG02293.hp2 HG02559.hp2 HG02738.hp1 HG02738.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA18947.hp1 NA18959.hp2 NA18999.hp1 NA19005.hp1 NA19060.hp1 NA19070.hp2 NA19240.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0006 a0007 a0008 a0010 a0012 a0038	a0001c0001 a0001c0026 a0003c0022 others(7): Show a0001c0001 a0001c0026 a0003c0022 a0004c0004 a0006c0007 a0007c0005 a0008c0012 a0010c0009 a0012c0024 a0038c0042	a0001c0001t0001 a0001c0026t0001 a0003c0022t0001 others(7): Show a0001c0001t0001 a0001c0026t0001 a0003c0022t0001 a0004c0004t0001 a0006c0007t0001 a0007c0005t0001 a0008c0012t0001 a0010c0009t0001 a0012c0024t0001 a0038c0042t0001	a0001c0001t0001g0029 a0001c0026t0001g0035 a0001c0026t0001g0126 others(21): Show a0001c0001t0001g0029 a0001c0026t0001g0035 a0001c0026t0001g0126 a0003c0022t0001g0233 a0003c0022t0001g0236 a0004c0004t0001g0223 a0004c0004t0001g0258 a0004c0004t0001g0263 a0004c0004t0001g0272 a0006c0007t0001g0229 a0006c0007t0001g0245 a0006c0007t0001g0246 a0006c0007t0001g0250 a0006c0007t0001g0256 a0007c0005t0001g0034 a0007c0005t0001g0045 a0007c0005t0001g0234 a0008c0012t0001g0257 a0008c0012t0001g0259 a0008c0012t0001g0260 a0008c0012t0001g0261 a0010c0009t0001g0241 a0012c0024t0001g0239 a0038c0042t0001g0162	26	178	0.1461	30	c.154 others(49): Show c.1547-3674_1547-3673insAGAAAAGAAAAGAAAAGAAAAGAAAA GAAA		PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	13/35						chr12	TogoVar
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(23): Show CATATATATATATAACATATATATATAACAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG02451.hp1 others(9): Show HG00738.hp2 HG01243.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0029 a0001c0003t0001g0150 a0001c0003t0001g0152 others(8): Show a0001c0003t0001g0029 a0001c0003t0001g0150 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0351 a0001c0003t0001g0353 a0001c0003t0003g0352	12	199	0.0603	30	c.120 others(47): Show c.120+2393_120+2394insACATATATATATAACATATATATATATA TA		QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
QRFPR_chr4_121323642_121386018	121323977	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02258.hp1 HG00639.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0335 a0003c0004t0006g0337 a0003c0004t0006g0335 a0003c0004t0006g0337	2	350	0.0057	30	c.53 others(41): Show c.5336_*5337insATATATATATATATATATATATATATATAT		QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding					4664		chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(23): Show GGAGAGAGAGGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02300.hp2 HG01109.hp2 HG02300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0313 a0002c0002t0004g0312 a0001c0001t0002g0313 a0002c0002t0004g0312	2	54	0.0370	30	c.340 others(45): Show c.340+121_340+122insTCTCTCTCTCTCTCTCTCTCCCTCTCTCTC		QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5						chr4	TogoVar
QRICH2_chr17_76269049_76313276	76292282	A A	ACCAGGTT others(23): Show ACCAGGTTGGACCAAACCACGCTGATCCACT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp2 HG00741.hp2	a0014 a0014	a0014c0047 a0014c0047	a0014c0047t0001 a0014c0047t0001	a0014c0047t0001g0298 a0014c0047t0001g0298	1	362	0.0028	30	c.244 others(39): Show c.2444_2445insAGTGGATCAGCGTGGTTTGGTCCAACCTGG	p.Gly others(43): Show p.Gly815_Ala816insValAspGlnArgGlyLeuValGlnProGly	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	4/19	2722/5972	2444/5664	815/1887			chr17	TogoVar
QSOX2_chr9_136201333_136250812	136208291	T T	TGGAGGGT others(23): Show TGGAGGGTGCAGGGAGGGCCAAGGTGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(28): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00642.hp1 HG01168.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02615.hp2 HG02622.hp1 HG03669.hp1 HG03710.hp1 HG04115.hp1 NA18947.hp2 NA18952.hp2 NA18965.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18992.hp1 NA19078.hp2 NA19084.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0008 others(1): Show a0001c0002 a0001c0006 a0001c0008 a0002c0003	a0001c0002t0006 a0001c0002t0018 a0001c0002t0024 others(6): Show a0001c0002t0006 a0001c0002t0018 a0001c0002t0024 a0001c0002t0025 a0001c0002t0045 a0001c0006t0044 a0001c0008t0041 a0002c0003t0006 a0002c0003t0043	a0001c0002t0006g0043 a0001c0002t0006g0050 a0001c0002t0006g0051 others(27): Show a0001c0002t0006g0043 a0001c0002t0006g0050 a0001c0002t0006g0051 a0001c0002t0006g0057 a0001c0002t0006g0071 a0001c0002t0006g0078 a0001c0002t0006g0090 a0001c0002t0006g0093 a0001c0002t0006g0111 a0001c0002t0006g0112 a0001c0002t0006g0132 a0001c0002t0006g0135 a0001c0002t0006g0139 a0001c0002t0006g0142 a0001c0002t0006g0146 a0001c0002t0006g0149 a0001c0002t0006g0153 a0001c0002t0006g0154 a0001c0002t0018g0042 a0001c0002t0018g0116 a0001c0002t0018g0128 a0001c0002t0024g0024 a0001c0002t0025g0129 a0001c0002t0025g0133 a0001c0002t0045g0076 a0001c0006t0044g0147 a0001c0008t0041g0049 a0002c0003t0006g0218 a0002c0003t0006g0237 a0002c0003t0043g0242	31	32	0.9688	30	c.43 others(39): Show c.436_*437insCCCCCCACCTTGGCCCTCCCTGCACCCTCC		QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	12/12				436		chr9	TogoVar
R3HCC1_chr8_23283108_23301279	23288560	T T	TCAGCCGA others(23): Show TCAGCCGAAGAATGACTTCGTCCACCGGATC	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0032 a0003c0014t0001g0032	1	470	0.0021	30	c.44_ others(35): Show c.44_45insAGAATGACTTCGTCCACCGGATCCAGCCGA	p.Glu others(41): Show p.Glu15_Asn16insGluTerLeuArgProProAspProAlaGlu	R3HCC1	ENSG00000104679.12	transcript	ENST00000265806.12	protein_coding	2/8	113/1573	45/1323	15/440		INFO_REALIGN_3_PRIME	chr8	TogoVar
R3HDM1_chr2_135526484_135730269	135537608	C C	CTTATTTT others(23): Show CTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	38	0.0263	30	c.-25 others(49): Show c.-250+6014_-250+6043dupTTTTATTTTATTTTATTTTATTTTAT TTTA		R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	12	0.0833	30	c.213 others(49): Show c.2132-1205_2132-1204insTTTTTTCTTTTTTTTTTTTTTTTTTT TTTT		R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23						chr12	TogoVar
R3HDML_chr20_44332043_44356238	44348482	C C	CTCCTTTC others(23): Show CTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20752.hp1 HG02145.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0126 a0001c0001t0001g0085 a0001c0001t0001g0126	2	23	0.0870	30	c.630 others(47): Show c.630-2170_630-2141dupCTTTCCTTTCCTTTCCTTTCCTTTCCTT TC		R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB10_chr2_26029084_26142454	26114737	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	165	0.0061	30	c.327 others(47): Show c.327+4849_327+4850insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP2_chr10_117999916_118051941	118051234	A A	AAAATATA others(23): Show AAAATATAATAATAAAAATAATTAAATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0216 a0001c0002t0041g0216	1	398	0.0025	30	c.-50 others(41): Show c.-5072_-5071insATTAATTTAATTATTTTTATTATTATATTT		RAB11FIP2	ENSG00000107560.12	transcript	ENST00000355624.8	protein_coding					4294		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492358	G G	GCCCCTCC others(23): Show GCCCCTCCCGGGGGACCCGAGGCCGTCCAGA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0171 a0001c0004t0008g0171	1	292	0.0034	30	c.126 others(49): Show c.1265+3358_1265+3359insCCCCTCCCGGGGGACCCGAGGCCGTC CAGA		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13						chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492460	G G	GGGAGACC others(23): Show GGGAGACCCGAGGCCGCCCAGGGCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	167	0.0060	30	c.126 others(49): Show c.1265+3462_1265+3463insAGACCCGAGGCCGCCCAGGGCCCTTC CCGG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02818.hp2 NA18990.hp1 HG02809.hp1 HG02818.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0002c0002t0008 a0001c0001t0003 a0001c0001t0004 a0002c0002t0008	a0001c0001t0003g0224 a0001c0001t0004g0020 a0002c0002t0008g0015 a0001c0001t0003g0224 a0001c0001t0004g0020 a0002c0002t0008g0015	3	11	0.2727	30	c.84 others(41): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding					4260		chr10	TogoVar
RAB20_chr13_110518066_110566722	110561766	G G	GCCCCGCC others(23): Show GCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG04204.hp2 others(5): Show HG02145.hp2 HG02257.hp2 HG04204.hp2 NA18952.hp1 NA18983.hp2 NA18984.hp2 NA19056.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0002c0004t0003	a0001c0001t0001g0239 a0001c0001t0001g0267 a0001c0001t0003g0391 others(5): Show a0001c0001t0001g0239 a0001c0001t0001g0267 a0001c0001t0003g0391 a0001c0002t0002g0002 a0001c0002t0002g0184 a0001c0002t0002g0240 a0001c0003t0001g0263 a0002c0004t0003g0262	8	77	0.1039	30	c.-24 others(39): Show c.-248_-247insGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding					45		chr13	TogoVar
RAB27A_chr15_55197966_55294813	55210027	T T	TATATGTG others(23): Show TATATGTGTGTGTACATGTACATATATACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	317	0.0032	30	c.468 others(47): Show c.468-4352_468-4323dupGTGTATATATGTACATGTACACACACAT AT		RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6						chr15	TogoVar
RAB27A_chr15_55197966_55294813	55210071	C C	CATATACA others(23): Show CATATACATATATACACATATATGTGTGTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0274 a0001c0001t0006g0274	1	317	0.0032	30	c.468 others(47): Show c.468-4396_468-4367dupATACACACATATATGTGTATATATGTAT AT		RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6						chr15	TogoVar
RAB27B_chr18_54823477_54900516	54850333	G G	GACATATA others(23): Show GACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02683.hp2 HG03704.hp1 others(7): Show HG01517.hp2 HG02683.hp2 HG03704.hp1 HG04184.hp2 NA18966.hp1 NA18970.hp1 NA18973.hp2 NA18985.hp1 NA19011.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0133 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0184 a0001c0001t0001g0262 a0001c0001t0003g0151 a0001c0001t0010g0142	10	44	0.2273	30	c.-20 others(49): Show c.-20+21634_-20+21635insCATATATATATATATATATATATATA TATA		RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB27B_chr18_54823477_54900516	54850333	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp2 HG03491.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0168 a0001c0001t0013g0102 a0001c0001t0001g0168 a0001c0001t0013g0102	2	36	0.0556	30	c.-20 others(49): Show c.-20+21660_-20+21661insTATATATATATATATATATATATATA TATA		RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB2A_chr8_60511987_60628644	60605832	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG03139.hp2 HG01884.hp2 HG02258.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0327 a0001c0001t0005g0281 a0001c0001t0005g0309 a0001c0001t0004g0327 a0001c0001t0005g0281 a0001c0001t0005g0309	3	188	0.0160	30	c.475 others(49): Show c.475-12741_475-12740insTATATATATATATATATATATATATA TATA		RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2A_chr8_60511987_60628644	60605852	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0003	1	284	0.0035	30	c.475 others(49): Show c.475-12727_475-12726insTATATATATATATATATATATATATA TAAA		RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr8	TogoVar

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