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
DNLZ_chr9_136354483_136368744	136355413	CCTGGGGG others(119): Show CCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGG AGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAG CCGGGTGCCGAGGGTGGGTGACACGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG03831.hp1 HG00423.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0044 a0002c0002t0008 a0002c0002t0044	a0002c0002t0008g0008 a0002c0002t0044g0050 a0002c0002t0008g0008 a0002c0002t0044g0050	2	418	0.0048	-126	c.64 others(11): Show c.6473_*6598del		DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding					4069		chr9	TogoVar
DOCK1_chr10_126900428_127457516	126916863	TGGTGTTT others(119): Show TGGTGTTTCAGAATTCCAGTTTGTCACAGTGCAGAGAGACAGGTGGGAGC TGTGTGAGGCCAGCGGTGTTTCAGAATTCCAGTTTGTCACAGTGCAGAGA GACAGGTGGGAGCTGTGCGAGGCCAGC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01978.hp1 HG01261.hp1 HG01978.hp1	a0001 a0002 a0001 a0002	a0001c0068 a0002c0070 a0001c0068 a0002c0070	a0001c0068t0005 a0002c0070t0002 a0001c0068t0005 a0002c0070t0002	a0001c0068t0005g0095 a0002c0070t0002g0094 a0001c0068t0005g0095 a0002c0070t0002g0094	2	136	0.0147	-126	c.46+ others(17): Show c.46+11354_46+11479del		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537908	TATATAAT others(119): Show TATATAATTTATATATATAATATATATATAATATATATATAATTTATATA TATAATATATATATATTTATATATAATATATATATATAATTTATATATAT AATATATATATATAATTTATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0041 a0001c0001t0017g0041	1	336	0.0030	-126	c.739 others(15): Show c.739-930_739-805del		DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12						chr3	TogoVar
DYNC2I1_chr7_158851558_158951189	158917331	CCCTCCAC others(119): Show CCCTCCACACTCCACCCTCCACCTCTCACTAAACACCTCCTGTCCTCCAC ACTCCACCCTCTGCCTCTCACTAAACACCTCCTGTCCTCCACACTCCACC CTCCGCCTCTCGCTAAACACCTCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01433.hp1 HG01934.hp1 others(5): Show HG00140.hp1 HG01433.hp1 HG01934.hp1 HG01981.hp1 HG02148.hp2 HG03704.hp1 HG04115.hp2 NA20129.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0023 a0002c0002 others(1): Show a0001c0001 a0001c0023 a0002c0002 a0011c0024	a0001c0001t0001 a0001c0023t0018 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0023t0018 a0002c0002t0001 a0011c0024t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(5): Show a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0023t0018g0112 a0002c0002t0001g0047 a0011c0024t0001g0271	8	274	0.0292	-126	c.179 others(19): Show c.1792-1288_1792-1163del		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB13_chr17_47318955_47446312	47398079	CGCCCGGC others(119): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC CCTGGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	356	0.0028	-126	c.194 others(19): Show c.1945+2152_1945+2277del		EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
EIF3B_chr7_2349827_2385745	2378307	GGCGAGCG others(119): Show GGCGAGCGTTCCTGGGATGCTGTGTTGTGTGAATGACCCTTGGTGTCATG GAGGAAGGAACAGGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0190 a0002c0002t0017g0190	1	384	0.0026	-126	c.215 others(17): Show c.2155-374_2155-249del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN1_chr7_1665277_1752946	1719118	ACCCCGCC others(119): Show ACCCCGCCCACCAACAGGACCCAAGCCACCAACAGGGCCCCGCCCACCAA CAGGGCCCCGCCCACCAACAGGACCCAAGCCACCAACAGGGCCCCGCCCA CCAACAGGACCCAAGCCACCAACAGGG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0023 a0001c0021t0023	a0001c0021t0023g0194 a0001c0021t0023g0194	1	302	0.0033	-126	c.-29 others(20): Show c.-294+9974_-294+10099del		ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
ENOSF1_chr18_665318_717630	666897	TGATGGAG others(119): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGAT GGAGATGGTGATGGTGATGGAGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA19054.hp1 HG03516.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0085 a0001c0001t0012g0041 a0001c0001t0002g0085 a0001c0001t0012g0041	2	418	0.0048	-126	c.72 others(11): Show c.7282_*7407del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3420		chr18	TogoVar
ENOSF1_chr18_665318_717630	666903	AGATGGTG others(119): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTG ATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGAT GGTGATGGTGATGGAGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	418	0.0024	-126	c.72 others(11): Show c.7276_*7401del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3414		chr18	TogoVar
ERICH1_chr8_659200_736224	699767	CCGCACAG others(119): Show CCGCACAGACCCGCACACGCGCACAGACCCGCACACGCGCACAGATCCGC ACAAGCGCACAGACCCGCACAGGCGCACAGACCCGCACACGCGCACAGAC CCTCACAGGCGCACAGATCCGCACACG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01943.hp1 HG01952.hp2 others(10): Show HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02129.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG03130.hp1 NA18955.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0001g0056 others(10): Show a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118	13	378	0.0344	-126	c.170 others(17): Show c.170-7281_170-7156del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
EXOC6B_chr2_72170984_72831033	72401520	TATACATA others(119): Show TATACATATATATATATATATATATGTGTATATATATATATATATACATA TATATATATATACATATATATATATATATATATGTGTATATATATATATA TACATATATATATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG02145.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0002 a0002c0004t0008g0004 a0002c0004t0008g0002 a0002c0004t0008g0004	2	104	0.0192	-126	c.198 others(21): Show c.1981-21776_1981-21651del		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21						chr2	TogoVar
F7_chr13_113100791_113125685	113111403	ACACTCAC others(119): Show ACACTCACAGGACACCTCACACTCACAGGGCACACTTCACACTCACGGGT CACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACA CTTCACACTCACAGGTCACCTCACACT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp2 HG02970.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	2	400	0.0050	-126	c.225 others(15): Show c.225+557_225+682del		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM161A_chr2_61819848_61859060	61848862	TTATATAT others(119): Show TTATATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATATATATATTTATATATATTTATATATATAT TTATATATATATATATTTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	400	0.0025	-126	c.183 others(17): Show c.183+4871_183+4996del		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6						chr2	TogoVar
FBXL14_chr12_1560993_1599581	1599361	AACCTCGT others(119): Show AACCTCGTCTCTACTGAAAATACAAAATTAGGCGGGCGTGGTGGCTCACA CCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCCCCTGAGGT CAGGAGTTTGAGGCCAGCCTGACCAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01071.hp2 others(7): Show HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01891.hp1 HG02257.hp2 HG03130.hp1 HG03486.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0069 a0001c0001t0005g0018 a0001c0001t0005g0360 others(6): Show a0001c0001t0001g0069 a0001c0001t0005g0018 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0005g0362 a0001c0001t0005g0364 a0001c0001t0005g0366 a0001c0001t0005g0367 a0001c0001t0005g0368	10	418	0.0239	-126	c.-54 others(11): Show c.-5421_-5296del		FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding					4781		chr12	TogoVar
FGF22_chr19_634879_649373	642202	CTGAGCTG others(119): Show CTGAGCTGTGAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTG TGAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCC GGGCTGGGGGCTCCATATGGGGTGGTG	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01891.hp2 others(1): Show HG01516.hp2 HG01517.hp2 HG01891.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014	a0001c0001t0005g0048 a0001c0001t0013g0046 a0001c0001t0014g0046 a0001c0001t0005g0048 a0001c0001t0013g0046 a0001c0001t0014g0046	4	434	0.0092	-126	c.215 others(15): Show c.215-965_215-840del		FGF22	ENSG00000070388.12	transcript	ENST00000215530.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
FMN1_chr15_32760544_33199714	32949940	CATATATA others(119): Show CATATATATATATATATATATATATACACACATATATATACACACACATA TATATACACATACACATATATATATACACATATATATATATATACACATA TATATATATATACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00609.hp1 others(11): Show HG00099.hp1 HG00423.hp1 HG00609.hp1 HG00741.hp1 HG02257.hp1 HG03017.hp1 HG03471.hp2 NA18946.hp2 NA18956.hp1 NA18990.hp2 NA19001.hp2 NA19064.hp2 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0012 a0028 a0057	a0001c0001 a0001c0002 a0001c0049 others(10): Show a0001c0001 a0001c0002 a0001c0049 a0002c0066 a0003c0007 a0004c0010 a0005c0005 a0007c0019 a0008c0054 a0009c0085 a0012c0029 a0028c0084 a0057c0043	a0001c0001t0001 a0001c0001t0034 a0001c0002t0006 others(11): Show a0001c0001t0001 a0001c0001t0034 a0001c0002t0006 a0001c0049t0019 a0002c0066t0002 a0003c0007t0015 a0004c0010t0018 a0005c0005t0013 a0007c0019t0001 a0008c0054t0019 a0009c0085t0008 a0012c0029t0001 a0028c0084t0057 a0057c0043t0001	a0001c0001t0001g0040 a0001c0001t0034g0007 a0001c0002t0006g0156 others(11): Show a0001c0001t0001g0040 a0001c0001t0034g0007 a0001c0002t0006g0156 a0001c0049t0019g0141 a0002c0066t0002g0045 a0003c0007t0015g0176 a0004c0010t0018g0097 a0005c0005t0013g0123 a0007c0019t0001g0014 a0008c0054t0019g0061 a0009c0085t0008g0072 a0012c0029t0001g0015 a0028c0084t0057g0058 a0057c0043t0001g0168	14	196	0.0714	-126	c.313 others(21): Show c.3138+14041_3138+14166del		FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20						chr15	TogoVar
FOXN3_chr14_89151177_89422233	89360750	ACCACCAC others(119): Show ACCACCACCTCCACCACTACCACCTCCACCACCACCTCCACCACCACCAC CTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCA CCTCCACCACCACCTCCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0189 a0001c0001t0014g0189	1	230	0.0044	-126	c.544 others(18): Show c.544-10068_544-9943del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361597	AGCACTAC others(119): Show AGCACTACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCTC CACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCT CCACCACTACCACCTCCAGCACTACCT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0163 a0001c0001t0076g0163	1	230	0.0044	-126	c.544 others(19): Show c.544-10915_544-10790del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361790	CCTCCACC others(119): Show CCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACT ACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACCTCCAC CACCACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0223 a0001c0001t0039g0223	1	230	0.0044	-126	c.544 others(19): Show c.544-11108_544-10983del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362018	CCACCACT others(119): Show CCACCACTACCACCTCCAGCACCACCACCTCCACCACCACCTCCACCACT ACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCAC CACCACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0055 a0001c0001t0059g0055	1	230	0.0044	-126	c.544 others(19): Show c.544-11336_544-11211del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FTCD_chr21_46131779_46160579	46134527	CAGGTTTA others(119): Show CAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGA GGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGG GTGAGGGTGAGGGTGAGGGTGAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0126 a0001c0001t0006g0126	1	230	0.0044	-126	c.23 others(11): Show c.2334_*2459del		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2251		chr21	TogoVar
GAL3ST2_chr2_241771822_241809287	241807572	TCCCCCCT others(119): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	314	0.0032	-126	c.34 others(11): Show c.3407_*3532del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3286		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807814	TCCCCCCT others(119): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0075 a0005c0005t0001g0075	1	314	0.0032	-126	c.36 others(11): Show c.3649_*3774del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3528		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132235740	TGAGTTCA others(119): Show TGAGTTCAACCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTGGAGTTCA ACCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTGGAGTTCAACCCTCGG GACAGGGCAGGAGGGTCCCCCGGGCTG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	183	0.0055	-126	c.107 others(21): Show c.1077+12044_1077+12169del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132299754	CCTAACCC others(119): Show CCTAACCCATCCCTGAGATGACCAACCCACTCCTGAGATAACTCACTCCC ATAACTAACCCACTCCCACCACACCTAACCCACCCCTGAGATGACCAACC CACTCCTGAGATAACTCACTCCCATAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0176 a0001c0008t0002g0176	1	183	0.0055	-126	c.239 others(19): Show c.239-13450_239-13325del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALR1_chr18_77244848_77282900	77252881	TCACCACC others(119): Show TCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCATCACCACCAT CACCACCATCACCACCACCACCACCAC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0118 a0001c0001t0040g0118	1	366	0.0027	-126	c.666 others(17): Show c.666+1682_666+1807del		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GDF2_chr10_47317454_47332588	47328099	AATGTGTG others(119): Show AATGTGTGTGCACACTGGAGTGAGTGATGTGTGTGCACACTGGGGTGAGT GGTGTGTGTGCACACTGGTGTGAGTGATGTGTGCACACATTGGGGTGAGT GATGTGAAGTGCACACTGGAATGAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00621.hp2 others(28): Show HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01255.hp2 HG01346.hp1 HG02027.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18994.hp1 NA19002.hp1 NA19009.hp2 NA19057.hp1 NA19064.hp2 NA19074.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	31	424	0.0731	-126	c.23 others(11): Show c.2316_*2441del		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					512		chr10	TogoVar
GKAP1_chr9_83734425_83822769	83804748	ACCCCGTC others(119): Show ACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCTGGTCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGTCAGCCCCCCGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp2 NA18979.hp1 HG02280.hp1 HG02723.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0012 a0001c0001t0006g0099 a0001c0001t0004g0012 a0001c0001t0006g0099	3	336	0.0089	-126	c.216 others(17): Show c.216+1428_216+1553del		GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	3/12						chr9	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344900	CAGCCTCT others(119): Show CAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACATAGCCTCT CCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGT TCACATAGCCTCTCCTCCTGTTCACGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp1 HG01069.hp1	a0028 a0028	a0028c0059 a0028c0059	a0028c0059t0040 a0028c0059t0040	a0028c0059t0040g0139 a0028c0059t0040g0139	1	301	0.0033	-126	c.834 others(7): Show c.834_959del	p.Arg others(13): Show p.Arg279_Leu320del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1059/4452	834/1569	278/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344920	ATAGCCTC others(119): Show ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTC TCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTG TTCACGTAGCCTCTCCTCCTGTTCACG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp2 HG01106.hp1 HG01243.hp1 others(5): Show HG00423.hp2 HG01106.hp1 HG01243.hp1 HG02280.hp2 HG02970.hp1 HG02976.hp2 HG03486.hp1 NA18966.hp2	a0001 a0027 a0029 others(1): Show a0001 a0027 a0029 a0035	a0001c0001 a0027c0039 a0029c0048 others(1): Show a0001c0001 a0027c0039 a0029c0048 a0035c0049	a0001c0001t0003 a0001c0001t0011 a0001c0001t0022 others(4): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0022 a0001c0001t0027 a0027c0039t0001 a0029c0048t0003 a0035c0049t0045	a0001c0001t0003g0013 a0001c0001t0003g0033 a0001c0001t0011g0118 others(5): Show a0001c0001t0003g0013 a0001c0001t0003g0033 a0001c0001t0011g0118 a0001c0001t0022g0113 a0001c0001t0027g0108 a0027c0039t0001g0080 a0029c0048t0003g0100 a0035c0049t0045g0124	8	301	0.0266	-126	c.814 others(7): Show c.814_939del	p.Arg others(13): Show p.Arg272_Leu313del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1039/4452	814/1569	272/522			chr15	TogoVar
GOLT1A_chr1_204193163_204218988	204208278	GTGTATAA others(119): Show GTGTATAAATAAATTGTGATGTGTATATATATACACACACATATACATAT ATATGTATACATATATACACACATGTATGTATATATGTGTGTATCTATAC ACATATACACACATATGTATACATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG03486.hp1 HG02055.hp2 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192	3	414	0.0073	-126	c.26- others(15): Show c.26-5417_26-5292del		GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding	1/4						chr1	TogoVar
GPAA1_chr8_144077634_144091216	144089561	TATACATA others(119): Show TATACATATACATATATATATATATATGTATATACATATATATATATATA TATACATATATATATATATACATATATATATATATACATATATATATATA TATATATACATATATATATGTATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG02257.hp1 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0008 a0003c0004t0001g0008	2	338	0.0059	-126	c.34 others(11): Show c.3437_*3562del		GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding					3346		chr8	TogoVar
GPAA1_chr8_144077634_144091216	144089579	TATATATA others(119): Show TATATATATGTATATACATATATATATATATATATACATATATATATATA TACATATATATATATATACATATATATATATATATATATACATATATATA TGTATATACATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0006 a0005c0005t0001g0006	1	338	0.0030	-126	c.34 others(11): Show c.3455_*3580del		GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding					3364		chr8	TogoVar
GPATCH2_chr1_217421992_217636090	217523699	AGACGGGG others(119): Show AGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGTGG GGGGCTGACCCCCCCACCTCCCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG01243.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0121 a0001c0001t0002g0099 a0001c0001t0002g0121	2	188	0.0106	-126	c.109 others(19): Show c.1099-8936_1099-8811del		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPC1_chr2_240430663_240473076	240453299	CCCCGCCC others(119): Show CCCCGCCCCGCTCCCACCGCCCGCCCCGCTCCCACCGCCCGCCCCGCTCC CACCGCCCGCCCCGCTCCCTCCGCCCGCCCCGCTCCCTCCGCCCGCCCCG CTCCCTCCGCCCGCCCCGCTCCCTCCG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02155.hp1 NA18942.hp1 others(1): Show HG00423.hp1 HG02155.hp1 NA18942.hp1 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0122 others(1): Show a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0122 a0001c0003t0003g0275	4	398	0.0101	-126	c.167 others(17): Show c.167-5716_167-5591del		GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
GPLD1_chr6_24420832_24494578	24474435	GAGAAAAA others(119): Show GAGAAAAAGTCCAATAAAGTAGAAGTATTACTTTTAAATAGAACCAAGTG GCAGGTATTCATATCCTTCTTAAGATATACAGCTTGAATAAAGCATAAGA TTTATCAATTATTTTTGTGACTAAAAC	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0073 a0004c0005t0004g0073	1	358	0.0028	-126	c.441 others(15): Show c.441+560_441+685del		GPLD1	ENSG00000112293.15	transcript	ENST00000230036.2	protein_coding	5/24						chr6	TogoVar
GPR176_chr15_39794008_39925266	39894129	GGGGGCTG others(119): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02145.hp1 HG02280.hp2 others(8): Show HG00099.hp1 HG02145.hp1 HG02280.hp2 HG02735.hp2 HG02818.hp2 HG02896.hp1 HG03130.hp1 HG03491.hp2 HG06807.hp1 NA18950.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0233 a0001c0001t0002g0154 a0001c0001t0002g0268 others(8): Show a0001c0001t0001g0233 a0001c0001t0002g0154 a0001c0001t0002g0268 a0001c0001t0002g0297 a0001c0001t0003g0165 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0011g0005	11	312	0.0353	-126	c.172 others(19): Show c.172+25600_172+25725del		GPR176	ENSG00000166073.12	transcript	ENST00000561100.2	protein_coding	1/2						chr15	TogoVar
GPSM1_chr9_136322539_136364601	136355413	CCTGGGGG others(119): Show CCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGG AGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAG CCGGGTGCCGAGGGTGGGTGACACGTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03831.hp1 HG00423.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0281 a0001c0001t0004g0228 a0001c0001t0004g0281	2	400	0.0050	-126	c.145 others(17): Show c.1456-258_1456-133del		GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
HLA-F_chr6_29718434_29732296	29722752	GAGAAGGA others(119): Show GAGAAGGAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00597.hp2 others(22): Show HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01099.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02735.hp1 HG03017.hp2 HG03654.hp2 HG03704.hp1 HG03942.hp2 HG04228.hp1 NA18954.hp2 NA18980.hp2 NA18983.hp2 NA19002.hp2 NA19003.hp1 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0036 a0002c0002t0001g0005 a0002c0002t0001g0036	25	443	0.0564	-126	c.-71 others(9): Show c.-711_-586del		HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding					681		chr6	TogoVar
HNF1A_chr12_120973543_121007512	120988009	TACCCACC others(119): Show TACCCACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCA TCCATCATCCATCCACCCACCCACCCACCAATCCATCCATCCATTCATCC AACCATCCATCCATCCATCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 others(27): Show HG00099.hp2 HG00639.hp1 HG00639.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG02165.hp2 HG03490.hp2 HG03492.hp1 HG03688.hp2 HG03834.hp1 HG04228.hp2 NA18942.hp1 NA18949.hp2 NA18959.hp2 NA18997.hp1 NA19055.hp2 NA19064.hp2 NA19078.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0010	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0019 a0002c0002 a0003c0012 a0004c0008 a0007c0016 a0010c0022	a0001c0001t0001 a0001c0003t0002 a0001c0006t0013 others(8): Show a0001c0001t0001 a0001c0003t0002 a0001c0006t0013 a0001c0019t0011 a0002c0002t0002 a0002c0002t0016 a0003c0012t0002 a0004c0008t0001 a0004c0008t0002 a0007c0016t0002 a0010c0022t0002	a0001c0001t0001g0125 a0001c0003t0002g0020 a0001c0003t0002g0073 others(24): Show a0001c0001t0001g0125 a0001c0003t0002g0020 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0006t0013g0221 a0001c0019t0011g0250 a0002c0002t0002g0014 a0002c0002t0002g0266 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0284 a0002c0002t0002g0292 a0002c0002t0002g0296 a0002c0002t0002g0298 a0002c0002t0002g0300 a0002c0002t0016g0014 a0003c0012t0002g0283 a0004c0008t0001g0282 a0004c0008t0002g0103 a0007c0016t0002g0021 a0010c0022t0002g0249	30	410	0.0732	-126	c.327 others(15): Show c.327-761_327-636del		HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
HUWE1_chrX_53527096_53691719	53579109	GGGAGGTG others(119): Show GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCGCCCGGCCAGCCGCCCTATCCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	214	0.0047	-126	c.571 others(19): Show c.5716+1596_5716+1721del		HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	43/83						chrX	TogoVar
IDI1_chr10_1034419_1054119	1038690	TTGTCCCC others(119): Show TTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACAGGGACGCACTGCGG GTACGACCTGGACGTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACAG GGACGCACTGCGGGTACGACCTGGACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(184): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0003t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0116 a0001c0001t0007g0057 a0001c0001t0009g0052 a0001c0001t0010g0053 a0001c0001t0011g0054 a0001c0001t0012g0058 a0001c0003t0001g0023 a0004c0005t0001g0043	187	438	0.4269	-126	c.23 others(11): Show c.2371_*2496del		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding					728		chr10	TogoVar
IDI1_chr10_1034419_1054119	1038970	GTCCCACA others(119): Show GTCCCACAGGGACGCACTGCGGGTACGACCTGGACTTGTCCCCAGGGAGC AGGTGGAGGGCAGTTCCCACAGGGACGCACTGCGGGTACGACCTGGACTT GTCCCCAGGGAGCAGGTGGAGGGCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	438	0.0023	-126	c.20 others(11): Show c.2091_*2216del		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding					448		chr10	TogoVar
INO80D_chr2_205988721_206091174	205988812	AAAATAAA others(119): Show AAAATAAAATAAAATAAATAAAATAAATAAAATAAAATAAATAAAATAAA TAAAATAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAAAAATAAAATAAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	334	0.0030	-126	c.15 others(13): Show c.15430_*15555del		INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding					4908		chr2	TogoVar
IPO11_chr5_62407763_62633582	62513103	ACCTCCCA others(119): Show ACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCAGCTCCCGGACCGGGTGGCTGGC CAGGCGGGGCGCTGACCCCCCCATCTC	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19005.hp2 NA18962.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0289 a0001c0001t0001g0291	2	330	0.0061	-126	c.178 others(19): Show c.1783-2270_1783-2145del		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	19/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQCA1_chr2_236319151_236512476	236379285	AAGGGGAG others(119): Show AAGGGGAGGGAACCCCCAAACAGGGGAGCGACAGGACCAAGGGGAGGGAA CCCCCAAACAGGGGAGCGACAGGACCAAGGGAGAGGGGAGGGAACCCCCA AACAGGGGAGCGACAGGACCAAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp1 NA20129.hp1 others(1): Show HG02647.hp2 HG03516.hp1 NA20129.hp1 NA20300.hp2	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0005c0009 a0012c0012 a0001c0001 a0005c0009 a0012c0012	a0001c0001t0004 a0005c0009t0005 a0012c0012t0005 a0001c0001t0004 a0005c0009t0005 a0012c0012t0005	a0001c0001t0004g0175 a0005c0009t0005g0066 a0005c0009t0005g0136 others(1): Show a0001c0001t0004g0175 a0005c0009t0005g0066 a0005c0009t0005g0136 a0012c0012t0005g0193	4	208	0.0192	-126	c.147 others(19): Show c.1478+1158_1478+1283del		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	12/18						chr2	TogoVar
ITGB2_chr21_44880953_44925899	44885229	ATGCTGGA others(119): Show ATGCTGGAGGGGAGGTGCAGACGGCTGGAGAGGAGGTGTATACGGCTGGA GGGGAGGTGTAGACTGCTGGAGGGGAGGTGTAGATGGCTGGAGAGGAGGT GTAGACGGCTGGAGGGGAGGTGTAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0001c0025 a0001c0030 a0001c0039 a0001c0044 a0006c0024 a0007c0027	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0010t0011 a0001c0011t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0022t0001 a0001c0025t0004 a0001c0030t0001 a0001c0039t0001 a0001c0044t0001 a0006c0024t0002 a0007c0027t0001	a0001c0001t0001g0039 a0001c0001t0001g0200 a0001c0001t0001g0220 others(135): Show a0001c0001t0001g0039 a0001c0001t0001g0200 a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0293 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0355 a0001c0001t0001g0387 a0001c0001t0001g0392 a0001c0001t0001g0408 a0001c0001t0001g0411 a0001c0001t0002g0218 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0018 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0047 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0116 a0001c0002t0001g0140 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0212 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0278 a0001c0002t0001g0295 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0323 a0001c0002t0001g0326 a0001c0002t0002g0066 a0001c0002t0002g0083 a0001c0002t0002g0317 a0001c0003t0001g0046 a0001c0003t0001g0209 a0001c0003t0001g0380 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0017 a0001c0003t0002g0037 a0001c0003t0002g0049 a0001c0003t0002g0122 a0001c0003t0002g0187 a0001c0003t0002g0192 a0001c0003t0002g0241 a0001c0003t0002g0325 a0001c0003t0002g0347 a0001c0004t0001g0022 a0001c0004t0001g0045 a0001c0004t0001g0063 a0001c0004t0001g0106 a0001c0004t0001g0108 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0171 a0001c0004t0001g0216 a0001c0004t0001g0225 a0001c0004t0001g0247 a0001c0004t0001g0256 a0001c0004t0001g0259 a0001c0004t0001g0262 a0001c0004t0001g0286 a0001c0004t0001g0290 a0001c0004t0001g0358 a0001c0004t0001g0359 a0001c0004t0001g0375 a0001c0004t0001g0384 a0001c0004t0001g0390 a0001c0005t0001g0016 a0001c0005t0001g0153 a0001c0005t0001g0205 a0001c0005t0002g0044 a0001c0005t0002g0101 a0001c0005t0002g0154 a0001c0005t0002g0185 a0001c0005t0002g0186 a0001c0005t0002g0213 a0001c0005t0002g0274 a0001c0005t0002g0371 a0001c0005t0002g0372 a0001c0005t0002g0388 a0001c0006t0001g0094 a0001c0006t0001g0243 a0001c0007t0001g0245 a0001c0007t0001g0342 a0001c0007t0001g0367 a0001c0008t0001g0159 a0001c0010t0001g0086 a0001c0010t0001g0260 a0001c0010t0001g0350 a0001c0010t0011g0419 a0001c0011t0001g0001 a0001c0011t0001g0133 a0001c0011t0001g0138 a0001c0015t0001g0267 a0001c0017t0001g0208 a0001c0017t0001g0284 a0001c0018t0001g0364 a0001c0019t0001g0024 a0001c0019t0001g0132 a0001c0022t0001g0095 a0001c0025t0004g0235 a0001c0030t0001g0316 a0001c0039t0001g0331 a0001c0044t0001g0191 a0006c0024t0002g0068 a0007c0027t0001g0238	150	444	0.3378	-126	c.10 others(11): Show c.1013_*1138del		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding					723		chr21	TogoVar
ITIH2_chr10_7698316_7754520	7737825	CTATATTA others(119): Show CTATATTATATTCTATATATTATATATTATATTCTATATATTATATATTA TATTCTATATATTATATATTATATTCTATATATTATATATTATATTCTAT ATATTATATATTATATTCTATATATTA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	380	0.0026	-126	c.195 others(17): Show c.1958-548_1958-423del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7628899	GCATGCAT others(119): Show GCATGCATCCATGTTATCATATGTATCTGTGTTTTCACATGTGTCCATGT TGTAGCGTGTGTCCGTGTTGTAGCATGTGTCCGTGTTGTGGCATGCATCC ATGTTATCATATGTATCTGTGTTTTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01975.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02155.hp2 HG02300.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02965.hp1 HG03017.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG04204.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18961.hp2 NA18970.hp2 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19012.hp1 NA19064.hp2 NA19066.hp1 NA19085.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0009 a0012 a0019 a0023 a0038	a0001c0001 a0001c0023 a0001c0067 others(13): Show a0001c0001 a0001c0023 a0001c0067 a0002c0004 a0002c0009 a0003c0002 a0003c0005 a0003c0012 a0004c0008 a0004c0022 a0006c0010 a0009c0027 a0012c0026 a0019c0064 a0023c0060 a0038c0068	a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 others(20): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 a0001c0023t0001 a0001c0067t0001 a0002c0004t0001 a0002c0004t0019 a0002c0009t0001 a0002c0009t0010 a0003c0002t0001 a0003c0002t0002 a0003c0002t0005 a0003c0005t0002 a0003c0012t0001 a0004c0008t0002 a0004c0008t0029 a0004c0022t0002 a0006c0010t0001 a0009c0027t0001 a0012c0026t0007 a0019c0064t0064 a0023c0060t0018 a0038c0068t0005	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0027 others(61): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0010g0045 a0001c0001t0024g0026 a0001c0023t0001g0032 a0001c0023t0001g0064 a0001c0067t0001g0018 a0002c0004t0001g0001 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0055 a0002c0004t0001g0073 a0002c0004t0001g0091 a0002c0004t0001g0174 a0002c0004t0019g0075 a0002c0009t0001g0061 a0002c0009t0001g0062 a0002c0009t0010g0024 a0003c0002t0001g0034 a0003c0002t0001g0036 a0003c0002t0001g0044 a0003c0002t0001g0048 a0003c0002t0001g0050 a0003c0002t0001g0060 a0003c0002t0001g0071 a0003c0002t0001g0076 a0003c0002t0001g0077 a0003c0002t0001g0224 a0003c0002t0002g0030 a0003c0002t0002g0031 a0003c0002t0002g0049 a0003c0002t0005g0078 a0003c0005t0002g0293 a0003c0012t0001g0047 a0003c0012t0001g0051 a0004c0008t0002g0088 a0004c0008t0029g0072 a0004c0022t0002g0025 a0006c0010t0001g0041 a0006c0010t0001g0058 a0009c0027t0001g0035 a0012c0026t0007g0068 a0019c0064t0064g0054 a0023c0060t0018g0028 a0038c0068t0005g0053	65	342	0.1901	-126	c.652 others(17): Show c.652+8203_652+8328del		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7629233	ATGTTGTA others(119): Show ATGTTGTAGCGTGTGTCCATGTTGTAGCGTGTGTCCATGTTGTAGCGTGT GTCCCTGTTGTAGCGTGTGTCCATGTTGTAGCGTGTGCCCATGTTGTAGC GTGTGCCCATGTTGTAGCGTGTGTCCC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG04115.hp1 NA19005.hp2 others(1): Show HG02015.hp1 HG04115.hp1 NA19005.hp2 NA19068.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0002 a0001c0001 a0002c0004 a0003c0002	a0001c0001t0001 a0002c0004t0001 a0003c0002t0001 others(1): Show a0001c0001t0001 a0002c0004t0001 a0003c0002t0001 a0003c0002t0046	a0001c0001t0001g0274 a0002c0004t0001g0250 a0003c0002t0001g0273 others(1): Show a0001c0001t0001g0274 a0002c0004t0001g0250 a0003c0002t0001g0273 a0003c0002t0046g0272	4	342	0.0117	-126	c.652 others(17): Show c.652+7869_652+7994del		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13						chr10	TogoVar

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