Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRG_chr3_61556571_62302609	61676471	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01255.hp2 HG03669.hp2 HG01169.hp1 HG01255.hp2 HG03669.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0010 a0001c0001 a0003c0004 a0005c0010	a0001c0001t0001 a0003c0004t0013 a0005c0010t0002 a0001c0001t0001 a0003c0004t0013 a0005c0010t0002	a0001c0001t0001g0018 a0003c0004t0013g0054 a0005c0010t0002g0058 a0001c0001t0001g0018 a0003c0004t0013g0054 a0005c0010t0002g0058	3	77	0.0390	27	c.86- others(44): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAAAAGAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61870487	T T	TTTTTTTT others(20): Show TTTTTTTTGTATTTTTAGTAGAGATGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	94	0.0106	27	c.191 others(48): Show c.191-119131_191-119130insGTATTTTTAGTAGAGATGGATTTT TTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61894301	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0076 a0003c0004t0007g0076	1	5	0.2000	27	c.191 others(46): Show c.191-95317_191-95291dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02922.hp1 NA21309.hp2 HG01169.hp2 HG02922.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0030 a0003c0004t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0030 a0003c0004t0001g0002	3	10	0.3000	27	c.376 others(42): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRK_chr6_127963785_128525599	128369139	T T	TTATCCTG others(20): Show TTATCCTGAAAGTACATTTATACACTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(44): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03942.hp1 HG03942.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp1 NA18959.hp2 NA18970.hp1 NA18970.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0002c0008	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(19): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0007t0001 a0001c0007t0006 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0002 a0001c0014t0007 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0008g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0026 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0002g0025 a0001c0003t0001g0024 a0001c0003t0001g0035 a0001c0003t0002g0029 a0001c0003t0004g0053 a0001c0004t0001g0006 a0001c0004t0002g0011 a0001c0004t0002g0022 a0001c0004t0005g0002 a0001c0005t0001g0015 a0001c0005t0001g0019 a0001c0005t0003g0028 a0001c0006t0001g0031 a0001c0006t0001g0050 a0001c0007t0001g0047 a0001c0007t0006g0001 a0001c0009t0001g0016 a0001c0010t0001g0044 a0001c0011t0001g0043 a0001c0012t0001g0049 a0001c0013t0002g0045 a0001c0014t0007g0005 a0002c0008t0001g0020	47	52	0.9038	27	c.223 others(46): Show c.223+28426_223+28427insTCAGTGTATAAATGTACTTTCAGGAT A	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	2/29			chr6	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0036 a0001c0002t0006g0036	1	50	0.0200	27	c.384 others(44): Show c.3847-901_3847-900insATATATATATATATATATATATATATT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184535	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0062 a0001c0007t0004g0062	1	37	0.0270	27	c.249 others(48): Show c.2491+14704_2491+14705insAGAAGAAGAAGAAGAAGAAGAAGA AGA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184541	C C	CTCTTCCT others(20): Show CTCTTCCTCTTCCTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0061 a0001c0007t0001g0061	1	11	0.0909	27	c.249 others(48): Show c.2491+14698_2491+14699insAGAAGAAGAAGAAGAGGAAGAGGA AGA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42184541	C C	CTCTTCCT others(20): Show CTCTTCCTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0035 a0001c0030t0001g0035	1	11	0.0909	27	c.249 others(48): Show c.2491+14698_2491+14699insAGAAGAAGAAGAAGAAGAAGAGGA AGA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	16/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42569081	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0010 a0002c0005t0012g0010	1	34	0.0294	27	c.115 others(48): Show c.1154-96520_1154-96519insATATATATATATATATATATATTT TTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	94	0.0106	27	c.364 others(46): Show c.364-10121_364-10120insAAATATATATATATATATATATATAT A	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	94	0.0106	27	c.364 others(46): Show c.364-10121_364-10120insAAAAAAAAAAATATATATATATATAT A	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0082 a0003c0012t0001g0082	1	94	0.0106	27	c.364 others(46): Show c.364-10121_364-10120insAAAAAAAAAAAAAAATATATATATAT A	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	143	0.0070	27	c.195 others(44): Show c.1958-908_1958-907insATATATATATATATATATATATATATA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02080.hp2 NA19011.hp1 others(1): Show HG01243.hp2 HG02080.hp2 NA19011.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0249	4	9	0.4444	27	c.195 others(46): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT T	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	8	0.1250	27	c.-32 others(42): Show c.-32-667_-32-641dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PVALB_chr22_36795703_36822035	36821788	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	387	0.0026	27	c.-47 others(38): Show c.-4784_-4783insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		4754		chr22	TogoVar
PVR_chr19_44638910_44671162	44667786	A A	ATATATAT others(20): Show ATATATATAAATTATATAATTTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01361.hp2 NA19006.hp1 others(1): Show HG01358.hp2 HG01361.hp2 NA19006.hp1 NA19054.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0009 a0001c0001 a0002c0002 a0009c0009	a0001c0001t0001 a0002c0002t0035 a0009c0009t0099 a0001c0001t0001 a0002c0002t0035 a0009c0009t0099	a0001c0001t0001g0020 a0002c0002t0035g0004 a0009c0009t0099g0079 a0001c0001t0001g0020 a0002c0002t0035g0004 a0009c0009t0099g0079	4	410	0.0098	27	c.59 others(38): Show c.5975_*5976insTATATATAAATTATATAATTTATATAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1625		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132403862	G G	GGTGGGCA others(20): Show GGTGGGCAGGGAGGACCTTCCAGGGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(81): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp2 HG02040.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18961.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp2 NA19000.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19083.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0011 a0001c0014 others(7): Show a0001c0001 a0001c0011 a0001c0014 a0001c0021 a0001c0023 a0002c0002 a0003c0004 a0003c0005 a0003c0019 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0011t0001 a0001c0014t0001 a0001c0021t0001 a0001c0023t0001 a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 a0003c0019t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 others(44): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0145 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0205 a0001c0001t0003g0002 a0001c0001t0010g0195 a0001c0011t0001g0018 a0001c0011t0001g0172 a0001c0014t0001g0017 a0001c0014t0001g0173 a0001c0021t0001g0018 a0001c0023t0001g0047 a0002c0002t0001g0006 a0002c0002t0001g0119 a0002c0002t0001g0160 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0188 a0003c0004t0001g0018 a0003c0005t0001g0011 a0003c0005t0001g0038 a0003c0005t0001g0039 a0003c0005t0001g0080 a0003c0005t0001g0147 a0003c0005t0001g0148 a0003c0005t0001g0152 a0003c0005t0001g0155 a0003c0005t0001g0203 a0003c0005t0001g0216 a0003c0019t0001g0091 a0004c0006t0001g0006 a0004c0006t0001g0015	84	372	0.2258	27	c.126 others(42): Show c.126-756_126-755insGGAGGACCTTCCAGGGTGTGTGGGCAG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PXMP2_chr12_132682587_132709985	132705501	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0044 a0001c0004t0002g0044	1	150	0.0067	27	c.81 others(36): Show c.814_*815insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		517		chr12	TogoVar
PXN_chr12_120205447_120270730	120265770	C C	CCGCGCGC others(20): Show CCGCGCGCGCCCGCGCCCGCGCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	321	0.0031	27	c.-14 others(36): Show c.-142_-141insCGGCGGGCGCGGGCGCGGGCGCGCGCG	PXN	ENSG00000089159.17	transcript	ENST00000637617.2	protein_coding		41		chr12	TogoVar
PYDC2_chr3_191456163_191466456	191463055	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	429	0.0023	27	c.15 others(38): Show c.1599_*1600insTTCTTTCTTTCTTTCTTTCTTTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1600		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463063	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	430	0.0023	27	c.16 others(38): Show c.1607_*1608insTTCTTTCTTTCTTTCTTTCTTTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1608		chr3	TogoVar
PYGM_chr11_64741398_64764974	64743748	C C	CGCGCCAA others(20): Show CGCGCCAAGGGTGGCCGGTGGGTGCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG03486.hp2 HG02451.hp1 HG02572.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	3	348	0.0086	27	c.28 others(38): Show c.2884_*2910dupCATGCACCCACCGGCCACCCTTGGCGC	PYGM	ENSG00000068976.14	transcript	ENST00000164139.4	protein_coding		2649		chr11	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	1	67	0.0149	27	c.49+ others(44): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYROXD1_chr12_21432655_21476250	21457811	A A	ATCCAGTC others(20): Show ATCCAGTCACCTCCCACCAGGCCGTACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(226): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0007 a0001c0001 a0001c0006 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0006t0001 a0003c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(116): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0136 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0046 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0004g0009 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0129 a0001c0001t0004g0138 a0001c0001t0013g0007 a0001c0001t0013g0012 a0001c0001t0013g0058 a0001c0001t0013g0069 a0001c0001t0016g0041 a0001c0001t0017g0004 a0001c0001t0017g0024 a0001c0001t0018g0002 a0001c0001t0022g0137 a0001c0001t0023g0043 a0001c0001t0025g0009 a0001c0001t0026g0025 a0001c0001t0028g0060 a0001c0001t0029g0040 a0001c0001t0030g0023 a0001c0001t0032g0003 a0001c0006t0001g0013 a0003c0007t0001g0108	229	414	0.5531	27	c.750 others(44): Show c.750+1721_750+1747dupGTCACCTCCCACCAGGCCGTACCTCCA	PYROXD1	ENSG00000121350.16	transcript	ENST00000240651.14	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYROXD1_chr12_21432655_21476250	21457825	C C	CACCAGGC others(20): Show CACCAGGCCGTACCTCCAGTCACCTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0057 a0001c0001t0031g0057	1	414	0.0024	27	c.750 others(44): Show c.750+1747_750+1748insGTCACCTCCTACCAGGCCGTACCTCCA	PYROXD1	ENSG00000121350.16	transcript	ENST00000240651.14	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYROXD1_chr12_21432655_21476250	21464256	T T	TAGGCCCC others(20): Show TAGGCCCCATTTCTTGGCTTACACAAGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0060 a0001c0001t0028g0060	1	414	0.0024	27	c.111 others(46): Show c.1116+1396_1116+1422dupGGCCCCATTTCTTGGCTTACACAAGC A	PYROXD1	ENSG00000121350.16	transcript	ENST00000240651.14	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATCATAT others(20): Show TATCATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG02451.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0029	2	284	0.0070	27	c.120 others(44): Show c.120+2321_120+2322insCATATATATATAACATATATATAACAT	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	59	0.0169	27	c.133 others(46): Show c.1339-3003_1339-3002insTTTTTTTTTTTTTTTTTTTTTTTTTT T	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9			chr3	TogoVar
QSOX2_chr9_136201333_136250812	136208291	T T	TGGAGGGT others(20): Show TGGAGGGTGCAGGGAGGGCCAAGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00735.hp2 others(41): Show HG00280.hp1 HG00609.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03942.hp1 HG04199.hp1 NA18906.hp2 NA18988.hp2 NA19000.hp2 NA19030.hp2 NA19058.hp2 NA19078.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0017 a0002c0003 a0003c0010	a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 others(9): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0001t0053 a0001c0002t0012 a0001c0004t0016 a0001c0017t0011 a0002c0003t0015 a0003c0010t0007	a0001c0001t0007g0038 a0001c0001t0007g0193 a0001c0001t0007g0194 others(33): Show a0001c0001t0007g0038 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0214 a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0007g0226 a0001c0001t0007g0255 a0001c0001t0007g0274 a0001c0001t0007g0299 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0001t0007g0302 a0001c0001t0011g0003 a0001c0001t0011g0173 a0001c0001t0011g0197 a0001c0001t0015g0203 a0001c0001t0020g0196 a0001c0001t0020g0282 a0001c0001t0021g0177 a0001c0001t0021g0268 a0001c0001t0033g0175 a0001c0001t0053g0303 a0001c0002t0012g0012 a0001c0002t0012g0044 a0001c0002t0012g0045 a0001c0002t0012g0046 a0001c0004t0016g0097 a0001c0004t0016g0099 a0001c0004t0016g0100 a0001c0017t0011g0168 a0002c0003t0015g0205 a0002c0003t0015g0239 a0002c0003t0015g0285 a0003c0010t0007g0035	44	45	0.9778	27	c.43 others(36): Show c.436_*437insCCCACCTTGGCCCTCCCTGCACCCTCC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	12/12	436		chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237032	T T	TGTCCTGG others(20): Show TGTCCTGGGCCGGTGTCACCTGGTGCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0246 a0002c0003t0002g0246	1	388	0.0026	27	c.328 others(44): Show c.328+8443_328+8444insGGGCACCAGGTGACACCGGCCCAGGAC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237125	A A	ATCCTGGG others(20): Show ATCCTGGGCCGGCGTCACCTGGAGCCCG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04199.hp2 HG03704.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0257 a0001c0001t0004g0258	2	390	0.0051	27	c.328 others(44): Show c.328+8324_328+8350dupCGGGCTCCAGGTGACGCCGGCCCAGGA	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237456	A A	ATCCTGTG others(20): Show ATCCTGTGCCGGCAACACCTGGAGCCCG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	158	0.0063	27	c.328 others(44): Show c.328+8019_328+8020insCGGGCTCCAGGTGTTGCCGGCACAGGA	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136237456	A A	ATCCTGTG others(20): Show ATCCTGTGCCGGCGACACCTGGAGCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(93): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01069.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18998.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19054.hp2 NA19057.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0015 a0001c0023 a0008c0018	a0001c0001t0004 a0001c0001t0026 a0001c0001t0029 others(23): Show a0001c0001t0004 a0001c0001t0026 a0001c0001t0029 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0013 a0001c0002t0023 a0001c0002t0035 a0001c0002t0039 a0001c0002t0040 a0001c0002t0045 a0001c0002t0049 a0001c0004t0003 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0017 a0001c0006t0009 a0001c0008t0013 a0001c0015t0005 a0001c0023t0030 a0008c0018t0001	a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 others(80): Show a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0026g0307 a0001c0001t0026g0308 a0001c0001t0029g0189 a0001c0001t0054g0309 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0001g0121 a0001c0002t0001g0125 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0167 a0001c0002t0002g0008 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0004g0109 a0001c0002t0005g0074 a0001c0002t0005g0148 a0001c0002t0006g0043 a0001c0002t0006g0071 a0001c0002t0006g0078 a0001c0002t0006g0135 a0001c0002t0006g0139 a0001c0002t0006g0142 a0001c0002t0006g0146 a0001c0002t0006g0149 a0001c0002t0006g0153 a0001c0002t0006g0154 a0001c0002t0013g0023 a0001c0002t0013g0120 a0001c0002t0023g0061 a0001c0002t0023g0067 a0001c0002t0035g0066 a0001c0002t0039g0145 a0001c0002t0040g0075 a0001c0002t0045g0076 a0001c0002t0049g0110 a0001c0004t0003g0127 a0001c0005t0001g0192 a0001c0005t0004g0187 a0001c0005t0004g0191 a0001c0005t0005g0030 a0001c0005t0005g0181 a0001c0005t0005g0183 a0001c0005t0005g0184 a0001c0005t0017g0182 a0001c0006t0009g0028 a0001c0006t0009g0107 a0001c0008t0013g0047 a0001c0015t0005g0136 a0001c0023t0030g0298 a0008c0018t0001g0169	96	253	0.3794	27	c.328 others(44): Show c.328+7993_328+8019dupCGGGCTCCAGGTGTCGCCGGCACAGGA	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136240933	G G	GCAGTGCT others(20): Show GCAGTGCTTATGACCTGGGTCACCCCAT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0205 a0002c0003t0015g0205	1	390	0.0026	27	c.328 others(44): Show c.328+4516_328+4542dupATGGGGTGACCCAGGTCATAAGCACTG	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
R3HCC1L_chr10_98129657_98249897	98183958	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0003 a0003c0012t0003	a0003c0012t0003g0160 a0003c0012t0003g0160	1	188	0.0053	27	c.-15 others(46): Show c.-15+20576_-15+20577insTTTTTTTTTTTTTTTTTTTTTTTTTT T	R3HCC1L	ENSG00000166024.14	transcript	ENST00000298999.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02280.hp1 HG01167.hp2 HG01169.hp2 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0287 a0002c0003t0002g0124 a0002c0003t0002g0126 a0001c0001t0001g0287 a0002c0003t0002g0124 a0002c0003t0002g0126	3	14	0.2143	27	c.213 others(46): Show c.2132-1205_2132-1204insTTTTTTTTTTTTTTTTTTTTTTTTTT T	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAGAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	12	0.0833	27	c.213 others(46): Show c.2132-1205_2132-1204insTTTTCTTTTTTTTTTTTTTTTTTTTT T	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
RAB15_chr14_64940816_64977336	64973893	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02109.hp1 HG01123.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0006 a0001c0001t0016	a0001c0001t0006g0254 a0001c0001t0016g0034 a0001c0001t0006g0254 a0001c0001t0016g0034	2	134	0.0149	27	c.-18 others(38): Show c.-1818_-1817insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1558		chr14	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02132.hp2 HG02523.hp2 others(1): Show HG01943.hp2 HG02132.hp2 HG02523.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0059 a0001c0001t0003g0199 a0001c0001t0003g0207 others(1): Show a0001c0001t0003g0059 a0001c0001t0003g0199 a0001c0001t0003g0207 a0001c0001t0004g0211	4	12	0.3333	27	c.84 others(38): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB3A_chr19_18191784_18209042	18201259	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0079 a0001c0001t0021g0089 a0001c0001t0005g0079 a0001c0001t0021g0089	2	236	0.0085	27	c.229 others(42): Show c.229-815_229-814insCTTTCTTTCTTTCTTTCTTTCTTTCTT	RAB3A	ENSG00000105649.10	transcript	ENST00000222256.9	protein_coding	2/4			chr19	TogoVar
RAB3C_chr5_58578075_58864394	58596861	A A	ATTATATT others(20): Show ATTATATTTAATATATAATACATAATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	218	0.0046	27	c.24+ others(44): Show c.24+13629_24+13630insTTATATTTAATATATAATACATAATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(20): Show ATATATATATATATAGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0119 a0001c0001t0036g0119	1	121	0.0083	27	c.497 others(44): Show c.497-5551_497-5550insATATATATATATAGTGTGTGTGTGTGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135117409	T T	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	121	0.0083	27	c.648 others(44): Show c.648+2048_648+2074dupTCTTCTTCTTCTTCTTCTTCTTCTTCT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB40C_chr16_585066_634268	601815	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20905.hp1 HG01255.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0277 a0001c0001t0002g0278	2	141	0.0142	27	c.142 others(46): Show c.142+11386_142+11412dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0025 a0001c0001t0087g0025	1	188	0.0053	27	c.37 others(38): Show c.3792_*3793insATATATATTTTTTTTTTTTTTTTTTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5IF_chr20_36600779_36617557	36609165	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	395	0.0025	27	c.219 others(42): Show c.219-435_219-409dupCACACACACACACACACACACACACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(20): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02280.hp1 HG02451.hp2 others(5): Show HG01106.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 others(5): Show a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302	8	31	0.2581	27	c.496 others(44): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739280	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	303	0.0033	27	c.71- others(42): Show c.71-8458_71-8457insATATATATATATATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar

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