Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GLT6D1_chr9_135618648_135644540	135619921	A A	ATCTCCCC others(35): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCTTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	425	0.0024	42	c.41 others(53): Show c.4175_*4176insAGAGGAGAAGGGGAGAAGGGGAGTAGGGGGAGAA GGGGGAGA		GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding					3726		chr9	TogoVar
GNA12_chr7_2723105_2849308	2763191	A A	AACACACA others(35): Show AACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20752.hp1 HG00741.hp1 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0265 a0001c0004t0017g0266 a0001c0004t0017g0265 a0001c0004t0017g0266	2	33	0.0606	42	c.526 others(61): Show c.526-29691_526-29690insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT		GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	2/3						chr7	TogoVar
GNA14_chr9_77418079_77653322	77555839	A A	AATAGAAT others(35): Show AATAGAATCTATAGAAAAGAAAATAGAAAAGAATAATGAATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	238	0.0042	42	c.125 others(61): Show c.125-26587_125-26586insATATTCATTATTCTTTTCTATTTTCT TTTCTATAGATTCTAT		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNAT3_chr7_80453635_80517064	80497543	C C	CACATATA others(35): Show CACATATACGTATATACATATACGTATATACATATACGTATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG01123.hp2 others(15): Show HG00642.hp1 HG01099.hp2 HG01123.hp2 HG01358.hp1 HG01358.hp2 HG02015.hp1 HG02056.hp2 HG02132.hp2 HG02165.hp2 HG02717.hp1 NA18945.hp1 NA18964.hp1 NA18975.hp1 NA18990.hp2 NA18999.hp1 NA19002.hp1 NA19065.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0103 others(14): Show a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0245 a0001c0002t0002g0061 a0001c0002t0002g0070 a0001c0002t0002g0152 a0001c0002t0002g0224 a0001c0002t0002g0252 a0001c0002t0002g0283 a0001c0004t0001g0033	18	158	0.1139	42	c.119 others(59): Show c.119-2938_119-2897dupATATACGTATATGTATATACGTATATGT ATATACGTATATGT		GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	1/7						chr7	TogoVar
GNAT3_chr7_80453635_80517064	80497586	A A	ACATATAC others(35): Show ACATATACGTATATGCATATACGTATATACATATACGTATATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	310	0.0032	42	c.119 others(59): Show c.119-2940_119-2939insCATATACGTATATGTATATACGTATATG CATATACGTATATG		GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	1/7						chr7	TogoVar
GNAZ_chr22_23065519_23130032	23106109	C C	CCCGCCAC others(35): Show CCCGCCACATATCACACTTACCCCCTGGGGCTCTGCCTCCTCA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	332	0.0030	42	c.723 others(59): Show c.723+9713_723+9714insCCTGGGGCTCTGCCTCCTCACCGCCACA TATCACACTTACCC		GNAZ	ENSG00000128266.9	transcript	ENST00000615612.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr22	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp2 HG02273.hp1 HG01952.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0327 a0001c0001t0033g0328 a0001c0001t0033g0327 a0001c0001t0033g0328	2	160	0.0125	42	c.56 others(53): Show c.5654_*5655insAAAATATATATATATATATATATATATATATATA TATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(35): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0121 a0001c0001t0058g0121	1	159	0.0063	42	c.56 others(53): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNG2_chr14_51855612_51974795	51942585	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	378	0.0026	42	c.-29 others(59): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTCTTT		GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG2_chr14_51855612_51974795	51942591	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01981.hp2 HG03688.hp2 HG00438.hp1 HG01981.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0075 a0001c0001t0001g0355 a0001c0001t0031g0112 a0001c0001t0001g0075 a0001c0001t0001g0355 a0001c0001t0031g0112	3	368	0.0082	42	c.-29 others(59): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT		GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr14	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344887	T T	TCTCCTGT others(35): Show TCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01257.hp1 HG01928.hp2 HG01943.hp1 others(4): Show HG01257.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 NA18955.hp2 NA18956.hp2 NA18978.hp1	a0009 a0023 a0009 a0023	a0009c0008 a0023c0039 a0009c0008 a0023c0039	a0009c0008t0001 a0009c0008t0007 a0023c0039t0009 a0009c0008t0001 a0009c0008t0007 a0023c0039t0009	a0009c0008t0001g0091 a0009c0008t0007g0012 a0009c0008t0007g0061 others(1): Show a0009c0008t0001g0091 a0009c0008t0007g0012 a0009c0008t0007g0061 a0023c0039t0009g0062	7	298	0.0235	42	c.931 others(49): Show c.931_972dupGAGAGGCTATGTGAACAGGAGGAGAGGCTGTGTGAACA GGAG	p.Glu others(55): Show p.Glu324_Lys325insGluArgLeuCysGluGlnGluGluArgLeuCy sGluGlnGlu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1072/4452	972/1569	324/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344920	A A	ATAGCCTC others(35): Show ATAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01257.hp1 HG01515.hp1 HG01517.hp1 HG01257.hp1 HG01515.hp1 HG01517.hp1	a0005 a0023 a0005 a0023	a0005c0007 a0023c0039 a0005c0007 a0023c0039	a0005c0007t0001 a0023c0039t0009 a0005c0007t0001 a0023c0039t0009	a0005c0007t0001g0021 a0023c0039t0009g0062 a0005c0007t0001g0021 a0023c0039t0009g0062	3	208	0.0144	42	c.939 others(49): Show c.939_940insCGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAG GCTA	p.Leu others(55): Show p.Leu313_Cys314insArgGluGlnGluGluArgLeuCysGluGlnGl uGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1039/4452	939/1569	313/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345004	A A	ATAGCCTC others(35): Show ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02683.hp1 HG02683.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0004 a0004c0004t0004g0004	1	94	0.0106	42	c.814 others(49): Show c.814_855dupCGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAG GCTA	p.Leu others(55): Show p.Leu285_Cys286insArgGluGlnGluGluArgLeuArgGluGlnGl uGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	955/4452	855/1569	285/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345024	C C	CACAGCCT others(35): Show CACAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03471.hp2 HG03471.hp2	a0028 a0028	a0028c0023 a0028c0023	a0028c0023t0006 a0028c0023t0006	a0028c0023t0006g0059 a0028c0023t0006g0059	1	290	0.0034	42	c.835 others(49): Show c.835_836insATGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGG CTGT	p.Arg others(54): Show p.Arg279delinsHisGluGlnGluGluArgLeuCysGluGlnGluGlu ArgLeuCys	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	935/4452	835/1569	279/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345068	C C	CAGCCTCT others(35): Show CAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCACGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0067 a0001c0028t0001g0067	1	203	0.0049	42	c.791 others(49): Show c.791_792insACGTGAACAGGAGGAGAGGCTACATGAACAGGAGGAGA GGCT	p.Leu others(55): Show p.Leu264_Cys265insArgGluGlnGluGluArgLeuHisGluGlnGl uGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	891/4452	791/1569	264/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345068	C C	CAGCCTCT others(35): Show CAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCATGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG00558.hp1 HG00558.hp2 others(64): Show HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02132.hp1 HG03098.hp1 HG03486.hp2 HG03654.hp1 HG03704.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp2 NA19088.hp2 NA20805.hp1 NA20905.hp2	a0001 a0032 a0001 a0032	a0001c0001 a0001c0043 a0032c0041 a0001c0001 a0001c0043 a0032c0041	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0001t0036 a0001c0043t0001 a0032c0041t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0007g0072 a0001c0001t0012g0025 a0001c0001t0012g0081 a0001c0001t0012g0086 a0001c0001t0018g0085 a0001c0001t0036g0073 a0001c0043t0001g0123 a0032c0041t0001g0063	67	269	0.2491	42	c.791 others(49): Show c.791_792insACATGAACAGGAGGAGAGGCTACATGAACAGGAGGAGA GGCT	p.Leu others(55): Show p.Leu264_Cys265insHisGluGlnGluGluArgLeuHisGluGlnGl uGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	891/4452	791/1569	264/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345076	C C	CCTCCTGT others(35): Show CCTCCTGTTCATGTAGCCTCTCCTCCTGTTCATGTAGCCTCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19055.hp2 NA19055.hp2	a0039 a0039	a0039c0026 a0039c0026	a0039c0026t0001 a0039c0026t0001	a0039c0026t0001g0071 a0039c0026t0001g0071	1	300	0.0033	42	c.783 others(49): Show c.783_784insAAGAGGCTACATGAACAGGAGGAGAGGCTACATGAACA GGAG	p.Glu others(55): Show p.Glu261_Glu262insLysArgLeuHisGluGlnGluGluArgLeuHi sGluGlnGlu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	883/4452	783/1569	261/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345084	T T	TCATGTAG others(35): Show TCATGTAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19070.hp1 NA19070.hp1	a0040 a0040	a0040c0047 a0040c0047	a0040c0047t0002 a0040c0047t0002	a0040c0047t0002g0125 a0040c0047t0002g0125	1	297	0.0034	42	c.775 others(49): Show c.775_776insTACAGGAGGAGAGGCTACATGAACAGGAGGAGAGGCTA CATG	p.Arg others(55): Show p.Arg258_Glu259insValGlnGluGluArgLeuHisGluGlnGluGl uArgLeuHis	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	875/4452	775/1569	259/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345087	C C	CACAGCCT others(35): Show CACAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18984.hp1 NA18984.hp1	a0035 a0035	a0035c0048 a0035c0048	a0035c0048t0002 a0035c0048t0002	a0035c0048t0002g0131 a0035c0048t0002g0131	1	229	0.0044	42	c.772 others(49): Show c.772_773insCTGAACAGGAGGAGAGGCTACATGAACAGGAGGAGAGG CTGT	p.Arg others(54): Show p.Arg258delinsProGluGlnGluGluArgLeuHisGluGlnGluGlu ArgLeuCys	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	872/4452	772/1569	258/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345131	T T	TAGCCTCT others(35): Show TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp1 HG02486.hp1	a0025 a0025	a0025c0022 a0025c0022	a0025c0022t0006 a0025c0022t0006	a0025c0022t0006g0058 a0025c0022t0006g0058	1	296	0.0034	42	c.728 others(49): Show c.728_729insGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGA GGCT	p.Leu others(55): Show p.Leu243_Arg244insCysGluGlnGluGluArgLeuArgGluGlnGl uGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	828/4452	728/1569	243/522			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23130316	T T	TATCTTCT others(35): Show TATCTTCTCCTCCTTCTCCCACATCATCTCCTCCTGCCTCCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp1 HG02273.hp2 HG03098.hp1 others(1): Show HG00741.hp1 HG02273.hp2 HG03098.hp1 HG04199.hp1	a0012 a0036 a0012 a0036	a0012c0020 a0012c0054 a0036c0046 a0012c0020 a0012c0054 a0036c0046	a0012c0020t0004 a0012c0020t0023 a0012c0054t0024 others(1): Show a0012c0020t0004 a0012c0020t0023 a0012c0054t0024 a0036c0046t0007	a0012c0020t0004g0119 a0012c0020t0023g0117 a0012c0054t0024g0120 others(1): Show a0012c0020t0004g0119 a0012c0020t0023g0117 a0012c0054t0024g0120 a0036c0046t0007g0104	4	177	0.0226	42	c.113 others(51): Show c.1136_1137insGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGA GAAGAT	p.Lys others(55): Show p.Lys378_Ile379insMetArgArgGlnGluGluMetMetTrpGluLy sGluGluLys	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1227/3822	1136/2007	379/668			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23130350	A A	AGCCTCCG others(35): Show AGCCTCCGCATCTTCTCCTCCTTCTCCCACATCATCTCCTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(90): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01069.hp2 HG01109.hp1 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18960.hp1 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18986.hp1 NA18986.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19088.hp1 NA19088.hp2 NA20905.hp2	a0001 a0005 a0007 others(8): Show a0001 a0005 a0007 a0011 a0014 a0020 a0021 a0043 a0045 a0046 a0047	a0001c0001 a0001c0034 a0005c0006 others(10): Show a0001c0001 a0001c0034 a0005c0006 a0007c0005 a0011c0011 a0011c0052 a0014c0032 a0020c0021 a0021c0024 a0043c0031 a0045c0023 a0046c0056 a0047c0058	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(14): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0034t0001 a0005c0006t0001 a0007c0005t0004 a0011c0011t0001 a0011c0052t0001 a0014c0032t0022 a0020c0021t0001 a0021c0024t0001 a0043c0031t0017 a0045c0023t0004 a0046c0056t0025 a0047c0058t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0005g0019 a0001c0001t0005g0063 a0001c0001t0005g0066 a0001c0001t0005g0083 a0001c0001t0012g0020 a0001c0001t0014g0018 a0001c0001t0020g0079 a0001c0034t0001g0064 a0005c0006t0001g0021 a0005c0006t0001g0070 a0007c0005t0004g0009 a0011c0011t0001g0027 a0011c0011t0001g0113 a0011c0052t0001g0110 a0014c0032t0022g0054 a0020c0021t0001g0118 a0021c0024t0001g0046 a0043c0031t0017g0030 a0045c0023t0004g0045 a0046c0056t0025g0125 a0047c0058t0001g0122	93	193	0.4819	42	c.106 others(51): Show c.1061_1102dupAGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATGC GGAGGC	p.Gln others(13): Show p.Gln354_Arg367dup	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1193/3822	1102/2007	368/668			chr15	TogoVar
GOLGA6L26_chr15_23319535_23339196	23327802	T T	TATCTTCT others(35): Show TATCTTCTCCTCCTTCTCCCACATCATCTCCTCCTGCCTCCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00733.hp2 HG01069.hp1 HG01069.hp2 others(88): Show HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01099.hp2 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02083.hp1 HG02300.hp1 HG02300.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18990.hp1 NA18990.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0008 a0015 others(7): Show a0001 a0008 a0015 a0019 a0020 a0024 a0027 a0031 a0034 a0036	a0001c0001 a0001c0006 a0001c0017 others(11): Show a0001c0001 a0001c0006 a0001c0017 a0001c0048 a0001c0049 a0008c0008 a0015c0014 a0019c0015 a0020c0020 a0024c0052 a0027c0024 a0031c0058 a0034c0033 a0036c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0006t0001 a0001c0017t0001 a0001c0048t0001 a0001c0049t0001 a0008c0008t0001 a0008c0008t0002 a0015c0014t0001 a0015c0014t0004 a0019c0015t0002 a0019c0015t0003 a0020c0020t0001 a0024c0052t0001 a0027c0024t0001 a0031c0058t0001 a0034c0033t0001 a0036c0029t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0002g0009 a0001c0001t0002g0080 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0003g0003 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0004g0094 a0001c0001t0004g0097 a0001c0001t0004g0102 a0001c0001t0007g0024 a0001c0001t0009g0093 a0001c0001t0010g0075 a0001c0006t0001g0010 a0001c0006t0001g0019 a0001c0017t0001g0078 a0001c0017t0001g0079 a0001c0048t0001g0073 a0001c0049t0001g0086 a0008c0008t0001g0020 a0008c0008t0001g0106 a0008c0008t0002g0105 a0015c0014t0001g0056 a0015c0014t0004g0050 a0019c0015t0002g0063 a0019c0015t0003g0062 a0020c0020t0001g0022 a0024c0052t0001g0081 a0027c0024t0001g0030 a0031c0058t0001g0117 a0034c0033t0001g0044 a0036c0029t0001g0039	91	182	0.5000	42	c.105 others(51): Show c.1058_1059insGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGA GAAGAT	p.Lys others(55): Show p.Lys352_Ile353insMetArgArgGlnGluGluMetMetTrpGluLy sGluGluLys	GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding	8/9	1119/3731	1058/1950	353/649			chr15	TogoVar
GOLGA6L26_chr15_23319535_23339196	23327810	C C	CCTCCTTC others(35): Show CCTCCTTCTCCCACATCATCTCCTCCTGCCTCCGCATCTTCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18966.hp1 NA18966.hp1	a0038 a0038	a0038c0045 a0038c0045	a0038c0045t0003 a0038c0045t0003	a0038c0045t0003g0090 a0038c0045t0003g0090	1	182	0.0055	42	c.105 others(51): Show c.1050_1051insAAGAAGATGCGGAGGCAGGAGGAGATGATGTGGGAG AAGGAG	p.Glu others(55): Show p.Glu350_Glu351insLysLysMetArgArgGlnGluGluMetMetTr pGluLysGlu	GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding	8/9	1111/3731	1050/1950	350/649			chr15	TogoVar
GOLGA6L26_chr15_23319535_23339196	23327836	A A	AGCCTCCG others(35): Show AGCCTCCGCATCTTCTCCTCCTTCTCCCACATCATCTCCTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01943.hp1 HG02717.hp1 HG02723.hp1 others(6): Show HG01943.hp1 HG02717.hp1 HG02723.hp1 HG02976.hp1 HG03041.hp1 NA18963.hp1 NA18967.hp2 NA19055.hp1 NA19065.hp2	a0013 a0018 a0025 others(3): Show a0013 a0018 a0025 a0026 a0029 a0037	a0013c0010 a0018c0018 a0025c0031 others(3): Show a0013c0010 a0018c0018 a0025c0031 a0026c0025 a0029c0036 a0037c0054	a0013c0010t0001 a0013c0010t0003 a0018c0018t0001 others(5): Show a0013c0010t0001 a0013c0010t0003 a0018c0018t0001 a0018c0018t0003 a0025c0031t0002 a0026c0025t0003 a0029c0036t0002 a0037c0054t0004	a0013c0010t0001g0021 a0013c0010t0003g0108 a0018c0018t0001g0098 others(5): Show a0013c0010t0001g0021 a0013c0010t0003g0108 a0018c0018t0001g0098 a0018c0018t0003g0076 a0025c0031t0002g0038 a0026c0025t0003g0031 a0029c0036t0002g0052 a0037c0054t0004g0113	9	84	0.1071	42	c.983 others(50): Show c.983_1024dupAGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATGCG GAGGC	p.Gln others(13): Show p.Gln328_Arg341dup	GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding	8/9	1085/3731	1024/1950	342/649			chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240042	C C	CGTGAACA others(35): Show CGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00621.hp1 HG02015.hp2 HG02135.hp1 others(17): Show HG00621.hp1 HG02015.hp2 HG02135.hp1 HG02165.hp2 NA18612.hp1 NA18942.hp2 NA18946.hp2 NA18950.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18968.hp2 NA18974.hp2 NA19007.hp2 NA19054.hp2 NA19057.hp2 NA19074.hp1 NA19085.hp2 NA19089.hp1	a0003 a0003	a0003c0003 a0003c0052 a0003c0003 a0003c0052	a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0052t0003	a0003c0003t0001g0002 a0003c0003t0003g0002 a0003c0003t0003g0023 others(10): Show a0003c0003t0001g0002 a0003c0003t0003g0002 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0043 a0003c0003t0003g0051 a0003c0003t0003g0053 a0003c0003t0003g0060 a0003c0003t0006g0002 a0003c0003t0006g0044 a0003c0003t0006g0050 a0003c0003t0006g0052 a0003c0052t0003g0002	20	74	0.2703	42	c.728 others(49): Show c.728_729insGTGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGA GGCT	p.Leu others(55): Show p.Leu243_Arg244insCysGluGlnGluGluArgLeuCysGluGlnGl uGluArgLeu	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	791/4553	729/1725	243/574		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240197	G G	GGAGGAGA others(35): Show GGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTGAACAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01261.hp2 NA18939.hp2 NA18964.hp1 others(2): Show HG01261.hp2 NA18939.hp2 NA18964.hp1 NA18969.hp1 NA18982.hp2	a0009 a0023 a0009 a0023	a0009c0012 a0023c0051 a0009c0012 a0023c0051	a0009c0012t0001 a0009c0012t0007 a0023c0051t0003 a0009c0012t0001 a0009c0012t0007 a0023c0051t0003	a0009c0012t0001g0007 a0009c0012t0001g0083 a0009c0012t0007g0084 others(1): Show a0009c0012t0001g0007 a0009c0012t0001g0083 a0009c0012t0007g0084 a0023c0051t0003g0002	5	249	0.0201	42	c.884 others(49): Show c.884_885insTGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTACGTG AACA	p.Glu others(55): Show p.Glu294_Gln295insHisGluGluArgLeuCysGluGlnGluGluAr gLeuArgGlu	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	947/4553	885/1725	295/574		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20535333	T T	TATCTTCT others(35): Show TATCTTCTCCTCCTTCTCCCACATCATCTCCTCCTGCCTCCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp1 HG01099.hp2 HG01934.hp2 others(12): Show HG00741.hp1 HG01099.hp2 HG01934.hp2 HG02258.hp2 HG02486.hp1 HG02630.hp2 HG02723.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 NA19079.hp2	a0005 a0015 a0026 others(2): Show a0005 a0015 a0026 a0027 a0029	a0005c0007 a0005c0011 a0005c0024 others(4): Show a0005c0007 a0005c0011 a0005c0024 a0015c0018 a0026c0028 a0027c0023 a0029c0029	a0005c0007t0005 a0005c0011t0005 a0005c0024t0005 others(4): Show a0005c0007t0005 a0005c0011t0005 a0005c0024t0005 a0015c0018t0005 a0026c0028t0005 a0027c0023t0005 a0029c0029t0005	a0005c0007t0005g0020 a0005c0007t0005g0039 a0005c0007t0005g0040 others(9): Show a0005c0007t0005g0020 a0005c0007t0005g0039 a0005c0007t0005g0040 a0005c0007t0005g0041 a0005c0007t0005g0043 a0005c0011t0005g0021 a0005c0011t0005g0044 a0005c0024t0005g0042 a0015c0018t0005g0026 a0026c0028t0005g0053 a0027c0023t0005g0034 a0029c0029t0005g0052	15	115	0.1304	42	c.105 others(51): Show c.1059_1100dupGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGA GAAGAT	p.Met others(13): Show p.Met353_Lys366dup	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1191/4013	1100/2175	367/724			chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28843038	G G	GCATCTGC others(35): Show GCATCTGCTCCTCCTGCTCCCCTATCTGCTCCTCCTGCTTCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0089 a0002c0002t0003g0089	1	420	0.0024	42	c.106 others(51): Show c.1065_1066insTGGAAGCAGGAGGAGCAGATAGGGGAGCAGGAGGAG CAGATG	p.Met others(55): Show p.Met355_Arg356insTrpLysGlnGluGluGlnIleGlyGluGlnGl uGluGlnMet	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1160/2367	1065/1869	355/622			chr15	TogoVar
GOLT1A_chr1_204193163_204218988	204200299	G G	GTGTGTGT others(35): Show GTGTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp2 HG02572.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0305 a0001c0002t0001g0197 a0001c0002t0001g0305	2	96	0.0208	42	c.297 others(59): Show c.297-1042_297-1041insTATATATATATATATATATATATATATA TATATACACACACA		GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding	3/4						chr1	TogoVar
GORASP2_chr2_170924253_170972130	170926956	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0188	1	360	0.0028	42	c.-23 others(53): Show c.-2385_-2384insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAG		GORASP2	ENSG00000115806.13	transcript	ENST00000234160.5	protein_coding					2296		chr2	TogoVar
GP6_chr19_55008705_55043264	55011362	A A	ACAGAGAT others(35): Show ACAGAGATAAGAGGTTGGGGCATGGAAATAAGGGATCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(30): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01081.hp1 HG01168.hp1 HG01175.hp2 HG01346.hp2 HG02280.hp1 HG02572.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG04228.hp1 NA18906.hp2 NA18947.hp1 NA18955.hp1 NA18967.hp1 NA18979.hp1 NA18995.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19077.hp1 NA19084.hp2 NA20805.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0004 a0004c0005 a0002c0002 a0002c0004 a0004c0005	a0002c0002t0001 a0002c0004t0001 a0004c0005t0002 a0002c0002t0001 a0002c0004t0001 a0004c0005t0002	a0002c0002t0001g0340 a0002c0004t0001g0004 a0002c0004t0001g0094 others(28): Show a0002c0002t0001g0340 a0002c0004t0001g0004 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0101 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0108 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0112 a0002c0004t0001g0113 a0002c0004t0001g0117 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0122 a0002c0004t0001g0129 a0002c0004t0001g0220 a0004c0005t0002g0270 a0004c0005t0002g0312	33	438	0.0753	42	c.27 others(53): Show c.2719_*2720insCACCCTGATCCCTTATTTCCATGCCCCAACCTCT TATCTCTG		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding					2342		chr19	TogoVar
GP6_chr19_55008705_55043264	55033336	T T	TAGACGCG others(35): Show TAGACGCGGAGGGTTCGTTCGTGTTAGACGCGTGGGCTCGTTC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0075 a0003c0003t0003g0075	1	422	0.0024	42	c.35- others(55): Show c.35-799_35-798insGAACGAGCCCACGCGTCTAACACGAACGAACC CTCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55043060	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAACATAAAAAAATAAACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	440	0.0023	42	c.-48 others(53): Show c.-4825_-4824insCGTGTTTATTTTTTTATGTTTTTTTTTTTTTTTT TTTTTTTT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding					4797		chr19	TogoVar
GPAA1_chr8_144077634_144091216	144089579	T T	TATATACA others(35): Show TATATACATATATATATATATATACATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	321	0.0031	42	c.34 others(53): Show c.3454_*3455insATATACATATATATATATATATACATATATATAT ATATATAC		GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding					3364		chr8	TogoVar
GPAA1_chr8_144077634_144091216	144089640	A A	ATGTATAT others(35): Show ATGTATATACATATACATATATATATATATACATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	318	0.0063	42	c.35 others(53): Show c.3515_*3516insTGTATATACATATACATATATATATATATACATA TATATATG		GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding					3425		chr8	TogoVar
GPAT3_chr4_83531108_83610875	83571719	C C	CACACATA others(35): Show CACACATATATATATATACACGCATATATATATATGTGTATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	332	0.0030	42	c.209 others(59): Show c.209-9831_209-9790dupTATATACACGCATATATATATATGTGTA TATACACATATATA		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GPATCH2_chr1_217421992_217636090	217518617	G G	GATTAATA others(35): Show GATTAATACAGAGGCCATTCAATATGGATGATATCTTACTTAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	186	0.0054	42	c.109 others(61): Show c.1099-3770_1099-3729dupATAAGTAAGATATCATCCATATTGAA TGGCCTCTGTATTAAT		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPATCH2_chr1_217421992_217636090	217524918	G G	GGGGGAGA others(35): Show GGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	152	0.0066	42	c.109 others(63): Show c.1099-10030_1099-10029insTCTCCCCTCTCCCCTCTCCCCTCT CCCCTCTCCCCTCTCCCC		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPC5_chr13_91393621_92872237	91977955	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	38	0.0263	42	c.140 others(63): Show c.1401+69899_1401+69900insGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA		GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92740960	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp2 HG02809.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0027 a0002c0002t0002g0038 a0001c0001t0001g0027 a0002c0002t0002g0038	2	28	0.0714	42	c.156 others(65): Show c.1562-125311_1562-125310insATATATATATATATATATATAT ATATATATATATATATATAT		GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93324593	T T	TATACACA others(35): Show TATACACACATACATACATATATATATATACACACATACATAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp1 HG02970.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0012 a0001c0001t0023g0018 a0001c0001t0001g0012 a0001c0001t0023g0018	2	76	0.0263	42	c.160 others(61): Show c.160+96980_160+96981insCACACATACATACATATATATATATA CACACATACATACATA		GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	94150814	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0059 a0001c0001t0010g0059	1	35	0.0286	42	c.877 others(63): Show c.877+122937_877+122938insATATATATATATATATATATATAT ATATATATATATATATAT		GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPCPD1_chr20_5539439_5616006	5568220	A A	AATATACT others(35): Show AATATACTTAGTATATATATATATATACTTAGTATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0353 a0002c0002t0006g0353	1	335	0.0030	42	c.115 others(59): Show c.1150-702_1150-661dupATATATATATACTAAGTATATATATATA TATACTAAGTATAT		GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	12/19						chr20	TogoVar
GPHN_chr14_66503147_67186803	66683394	G G	GTTCATAT others(35): Show GTTCATATATATATGTTCATATATATATGTTCATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02257.hp1 others(6): Show HG01081.hp1 HG01884.hp1 HG02257.hp1 HG02280.hp1 HG02622.hp2 HG02970.hp2 HG06807.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0140 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0008g0137	9	195	0.0462	42	c.143 others(59): Show c.143+2222_143+2223insGTTCATATATATATGTTCATATATATAT ATTCATATATATAT		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67144286	T T	TATATATA others(35): Show TATATATATATATACATACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01978.hp2 HG01952.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0109 a0001c0001t0001g0113	2	111	0.0180	42	c.183 others(59): Show c.1836+838_1836+839insTATATATATATACATACATATATATATA TATATATATATACA		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67144286	T T	TATATATA others(35): Show TATATATATATATATACATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	110	0.0091	42	c.183 others(59): Show c.1836+838_1836+839insTATATATATATATACATATATATATATA TATATATATATACA		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67144286	T T	TATATATA others(35): Show TATATATATATATATATACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03927.hp1 NA18986.hp1 HG02970.hp2 HG03927.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0179 a0001c0001t0001g0225 a0001c0001t0001g0155 a0001c0001t0001g0179 a0001c0001t0001g0225	3	112	0.0268	42	c.183 others(59): Show c.1836+838_1836+839insTATATATATATATATACATATATATATA TATATATATATACA		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67144286	T T	TATATATA others(35): Show TATATATATATATATATATACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0231 a0001c0001t0007g0231	1	110	0.0091	42	c.183 others(59): Show c.1836+838_1836+839insTATATATATATATATATACATATATATA TATATATATATACA		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143218041	A A	ACCCCCAC others(35): Show ACCCCCACACCACCCAACACCACCCCCACACCACCCAACACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	42	0.0238	42	c.25 others(53): Show c.2523_*2524insCCCCCACACCACCCAACACCACCCCCACACCACC CAACACCG		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					872		chr8	TogoVar

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