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
CROCC2_chr2_240901336_240998311	240923697	C C	CCCCACAC others(200): Show CCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCG GCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACACTAA CCCAGCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACACT AACCCAGT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0257 a0002c0012t0002g0257	1	335	0.0030	207	c.488 others(224): Show c.488+1055_488+1056insACACTGACCCGGCCCCCACACTGACCCG GCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTG ACCCAGCCCCCACACTAACCCAGCCCCCACACTGACCCAGCCCCCACACT AACCCAGCCCCCCACACTAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924185	C C	CCCCCACA others(200): Show CCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTG ACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACAC TAATCCGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0003 a0010c0010t0003	a0010c0010t0003g0186 a0010c0010t0003g0186	1	287	0.0035	207	c.489 others(224): Show c.489-1535_489-1534insACACTGACCCGGCCCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAATC CGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACAC TAACCCGGCCCCCACACTAATCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980899	G G	GCCCAGAC others(200): Show GCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAAGCTCTGGGATAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCATGCTCAGTCTCTGGGGTAGGAGC CTCAGGAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	289	0.0035	207	c.440 others(226): Show c.4402-1976_4402-1975insACTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGATAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCATGCTC AGTCTCTGGGGTAGGAGCCTCAGGATCCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(200): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00323.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0231 a0001c0001t0001g0239	2	340	0.0059	207	c.28- others(222): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CUX2_chr12_111029165_111355554	111326378	T T	TGTGATGG others(200): Show TGTGATGGGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGGTTGGTTTTGTTTATAG TGTTGTGGTGGGGGAGGGGTGGGTTTATTTATAGTGTTGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTTGGTTTTGTTTATA GTGTTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0022 a0001c0008t0002g0022	1	27	0.0370	207	c.292 others(226): Show c.2926+3801_2926+3802insATGGGGAGGGGTTGGTTTTGTTTATA GTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGA GGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTATTT ATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGG AGGGGTTGGTTTTGTTTATAGTGTTGTGGTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP2R1_chr11_14872440_14897231	14877774	C C	CTGTTTTT others(200): Show CTGTTTTTCAAAACTTGTGGAATGAGAATTCAGTAACAGGTAGCTTGAGA AACTGAGACCCAGAGAGGGAAAAGATATAGTCACTTAAGTAAAACTAGAA TCTCACTCTCTTGGCTTCTGGTTATTGTACTTCATCTTCAATTAGGAAAA TATTGCTTCTTCTGTGAAAAGGTACACAAGACCCATGGAAGATGGACTAG AAACTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0117 a0001c0002t0003g0117	1	401	0.0025	207	c.34 others(216): Show c.347_*348insAAGAGTTTCTAGTCCATCTTCCATGGGTCTTGTGTA CCTTTTCACAGAAGAAGCAATATTTTCCTAATTGAAGATGAAGTACAATA ACCAGAAGCCAAGAGAGTGAGATTCTAGTTTTACTTAAGTGACTATATCT TTTCCCTCTCTGGGTCTCAGTTTCTCAAGCTACCTGTTACTGAATTCTCA TTCCACAAGTTTTGAAAAACA	CYP2R1	ENSG00000186104.11	transcript	ENST00000334636.10	protein_coding	5/5	347		chr11	TogoVar
DEPDC1B_chr5_60591912_60705166	60667360	T T	TAAAATGG others(200): Show TAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATATA CAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATAT ACAAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATAT ATACAAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACAT ATATACAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02257.hp1 HG02683.hp2 others(1): Show HG00738.hp2 HG02257.hp1 HG02683.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0275 others(1): Show a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0275 a0001c0001t0001g0276	4	65	0.0615	207	c.314 others(226): Show c.314+19601_314+19602insTTGTATATATGTAAAATATCCATTTT TTGTATATATGTAAAATATCCATTTTTTGTATATATGTAAAATATCCATT TTTTGTATATATGTAAAATATCCATTTTTTGTATATATGTAAAATATCCA TTTTTTGTATATATGTAAAATATCCATTTTTGTATATATGTAAAATATCC ATTTTTTGTATATATGTAAAATATCCATTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(200): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC CTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT CCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	26	0.0385	207	c.27 others(218): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGC GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGG GGAGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DHX40_chr17_59560610_59613345	59569700	T T	TATATATA others(200): Show TATATATATATCTATATATATATTATAGATATATATATAATATATATATC TATATATATATATAGATATATATATAATATATATATCTATAATATATATA GATATATATATAATATATATATCTATATATATATTATATATATATCTATA TATATTATAGATATATATATAATATATATATCTATATATATATATAGATA TATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG02886.hp2 others(4): Show HG01099.hp2 HG01884.hp1 HG02886.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050	7	202	0.0347	207	c.281 others(222): Show c.281-796_281-795insTATAGATATATATATAATATATATATCTAT ATATATATATAGATATATATATAATATATATATCTATAATATATATAGAT ATATATATAATATATATATCTATATATATATTATATATATATCTATATAT ATTATAGATATATATATAATATATATATCTATATATATATATAGATATAT ATATAATATATATATCTATATATATAT	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(200): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	218	0.0046	207	c.101 others(226): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	516542	G G	GTAAGGTG others(200): Show GTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGGACGGGGTAGG GTGGGAGGGGGGGACGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGG GGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGAC ACGGGGTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	72	0.0139	207	c.86- others(224): Show c.86-30013_86-30012insTACCCCGTGTCCCCCCCACCCTACCCCC TGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCC CCCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCCCTC CCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTTAC CCCCTTCCCCTGTCCCACTGTCCACCTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3741008	C C	CCACCATC others(200): Show CCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCACC ATCACCACCACCACCACCACCATCACCTCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCATCACCACCACCACCATCACCATCACCAC CACCATCACCACCACCACCACATCACCTCACCACCACCACCACCATCACC ACCACCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0030 a0001c0005t0006g0030	1	78	0.0128	207	c.135 others(226): Show c.1350+1326_1350+1327insATGGTGGTGGTGATGGTGGTGGTGGT GGTGAGGTGATGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTG GTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGAGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1000234	G G	GGGGGTGG others(200): Show GGGGGTGGTTTTCTTTTGCACTGGATTTTCTCTAGAGCGGACAGATCCGG GTGGGGGTGGTTTTCTTTTGCACTTGATGTTCTCTAGAGCGGACAGATCC GGGTGGAGGTGGTTTTCTTTCGCACTGGATTTTCTCTAGAGCGGAAAGAT CTGGGTTGGGGTGGTTTTCTTTTGCACCGGATTTTCTCTAGAGCAGACAC ATCCGGGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02698.hp2 HG01496.hp1 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0018 a0002c0004t0003 a0002c0004t0018	a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0003g0009 a0002c0004t0018g0010	2	38	0.0526	207	c.73+ others(224): Show c.73+92466_73+92467insCATCCGGGTGGGGTGGTTTTCTTTTGCA CTGGATTTTCTCTAGAGCGGACAGATCCGGGTGGGGGTGGTTTTCTTTTG CACTTGATGTTCTCTAGAGCGGACAGATCCGGGTGGAGGTGGTTTTCTTT CGCACTGGATTTTCTCTAGAGCGGAAAGATCTGGGTTGGGGTGGTTTTCT TTTGCACCGGATTTTCTCTAGAGCAGACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1000234	G G	GGGGGTGG others(200): Show GGGGGTGGTTTTCTTTTGCACTGGATTTTCTCTAGAGCGGACAGATCCGG GTGGGGGTGGTTTTCTTTTGCACTTGATGTTCTCTAGAGCGGACAGATCC GGGTGGAGGTGGTTTTCTTTCGCACTGGATTTTCTCTAGAGCGGAAAGAT CTGGGTTGGGGTGGTTTTCTTTTGCACCGGATTTTCTCTAGAGCAGACAG ATCCGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02818.hp2 HG02895.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0021 a0002c0007t0008 a0002c0006t0021 a0002c0007t0008	a0002c0006t0021g0014 a0002c0007t0008g0040 a0002c0006t0021g0014 a0002c0007t0008g0040	2	38	0.0526	207	c.73+ others(224): Show c.73+92280_73+92486dupCTTTTGCACTGGATTTTCTCTAGAGCGG ACAGATCCGGGTGGGGGTGGTTTTCTTTTGCACTTGATGTTCTCTAGAGC GGACAGATCCGGGTGGAGGTGGTTTTCTTTCGCACTGGATTTTCTCTAGA GCGGAAAGATCTGGGTTGGGGTGGTTTTCTTTTGCACCGGATTTTCTCTA GAGCAGACAGATCCGGGTGGGGTGGTTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(200): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGATATATATGGGATATATATATCATATATATATGATATATATGGG ATATATATATCATATATATATCATATATATGGGATATATATATCATATAT ATCATATATATGGGATATATATATCATATATATCATATATATGGGATATA TATATCAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG03195.hp1 others(1): Show HG02145.hp1 HG02622.hp1 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0311 others(1): Show a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0311 a0001c0001t0001g0314	4	58	0.0690	207	c.22- others(224): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATATGATATATATATCCCATATATATCATATATAT ATGATATATATATCCCATATATATCATATATATATCATATATATATCATA TATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK1_chr10_126900428_127457516	126947451	G G	GTGGTGGT others(200): Show GTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGTTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGGTGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0003 a0004c0020t0003	a0004c0020t0003g0023 a0004c0020t0003g0023	1	132	0.0076	207	c.47- others(224): Show c.47-23244_47-23243insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGTTGGTGATGGTGGTAGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGGTGATGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947680	A A	ATGGTGGT others(200): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGT GGTGATGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0113 a0001c0027t0002g0113	1	47	0.0213	207	c.47- others(224): Show c.47-23015_47-23014insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947685	G G	GGTGGTTG others(200): Show GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0012 a0001c0056t0001g0012	1	124	0.0081	207	c.47- others(224): Show c.47-23015_47-23014insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTAGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947906	T T	TTGGTGGT others(200): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATT ACTGTTGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	52	0.0192	207	c.47- others(224): Show c.47-22791_47-22790insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400937	A A	ACCACCAC others(200): Show ACCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTT CACCATCACCACAACATCCACCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACC TCCTCCACCATCACCACCTCCTCCACCATCACCACCTCCTCCACCACCAC CATCACCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0227 a0008c0021t0001g0227	1	246	0.0041	207	c.323 others(226): Show c.3234+1687_3234+1688insCCTCCACCACCACCACCTCCCCCACT ACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCACCTCCAC CACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCT TCACCATCACCACCTCCTCCACCATCACCACCTCCTCCACCATCACCACC TCCTCCACCACCACCATCACCTCCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400963	C C	CAGCATCT others(200): Show CAGCATCTTCACCATCACCACCACCTCCACCACCACCACCTCCACCACCA GCACTTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACCTCC ACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCAC CATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCA ATATCACT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0021 a0021	a0021c0125 a0021c0125	a0021c0125t0002 a0021c0125t0002	a0021c0125t0002g0123 a0021c0125t0002g0123	1	227	0.0044	207	c.323 others(226): Show c.3234+1705_3234+1706insGCATCTTCACCATCACCACCACCTCC ACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCAC CATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCA CCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATT ATCACCTTTCCTATCACCTCCAATATCACTA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(200): Show CTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	161	0.0062	207	c.-10 others(226): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619002	C C	CCCCCCGC others(200): Show CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGC AGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCCTCCCTGCA GCTCCCTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	243	0.0041	207	c.-10 others(226): Show c.-107+5288_-107+5289insGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCCTCCCTGCAGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EHMT1_chr9_137614005_137841127	137781232	G G	GGTGATGA others(200): Show GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGGGATGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGA CGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGT GATGATGCTGAGACGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGC TGAGACGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0166 a0001c0004t0001g0166	1	126	0.0079	207	c.227 others(226): Show c.2276-1055_2276-1054insTGACGCCGAGACGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGGGATG TGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGA TGACGCCGAGACGTGTGGTGATGATGCTGAGACGTGTGGTGATGACGCTG GGATGTGTGGTGATGACGCTGAGACGTGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(200): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAT ATAATATACATAATATATAATATATATTATGTAATATATTACATATATTA TATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	138	0.0072	207	c.-37 others(218): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACATAATA TATATTATATATTATGTATATTATATATATATTATACATAATATATATAT TATATATTATATATTATATATTATGTATAATATATAATATATAATATATT ATATATTACATATAATATATTATATGTAATATATAACATATATTACATAA TATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
ELOVL6_chr4_110040846_110203615	110084076	C C	CTATATAT others(200): Show CTATATATGATATATAACATATATATGATATATATGATATATACATGTTA TATATCATATATATCATATATATGTTATATATGATATATAACATATATAT GATATATATTATATATATAACATATGTGATGATATATATGATATATATAA CATATATATGATATATATGATATATACATGTTATATATCATATATATCAT ATATATGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03540.hp2 HG02896.hp1 HG02897.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0040 a0001c0001t0017g0041 a0001c0001t0017g0042 a0001c0001t0017g0040 a0001c0001t0017g0041 a0001c0001t0017g0042	3	212	0.0142	207	c.221 others(226): Show c.221+21420_221+21421insTCATATATATGATATATATGATATAT AACATGTATATATCATATATATCATATATATGTTATATATATCATATATA TCATCACATATGTTATATATATAATATATATCATATATATGTTATATATC ATATATAACATATATATGATATATATGATATATAACATGTATATATCATA TATATCATATATATGTTATATATCATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ERC1_chr12_986223_1500931	1086416	A A	ATTGTTGT others(200): Show ATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCGTTATTATTATTATTGTTGTTGTTGTTGACAGTGCTGAGATTAC AGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGT TGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTAT TATTATTG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0012 a0001c0001t0056g0012	1	124	0.0081	207	c.108 others(226): Show c.1086+2848_1086+2849insTTGAAAGTGCTGAGATTACAGGCAAT ATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGTTGACAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATT GTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCGTTATTATTATTATTGTTGTTGTTGTTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD3_chr9_137301896_137428162	137328661	A A	AGCTACAC others(200): Show AGCTACACGGGAGCTACACGGGAGCTACGCGGGACTACGCGGGACTACGC GGGACTACACGGGACTACACGGGAGCTACACGGGACTACGCGGGACTACG CGGGACTACGCGGGACTACGCGGGAGCTACGCGGGAGCTACACGGGACTA CGCGGGACTACGCGGGACTACGCGGGACTACGCGGGACTACGCGGGACTA CACGGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01256.hp2 HG00280.hp1 HG00323.hp2 HG01256.hp2	a0007 a0013 a0007 a0013	a0007c0010 a0013c0028 a0007c0010 a0013c0028	a0007c0010t0001 a0013c0028t0001 a0007c0010t0001 a0013c0028t0001	a0007c0010t0001g0021 a0007c0010t0001g0080 a0013c0028t0001g0081 a0007c0010t0001g0021 a0007c0010t0001g0080 a0013c0028t0001g0081	3	43	0.0698	207	c.199 others(226): Show c.1999-4519_1999-4518insCTCCCGTGTAGTCCCGCGTAGTCCCG CGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGTGTAGCTCCC GCGTAGCTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCCCGCGTAGTCC CGTGTAGCTCCCGTGTAGTCCCGTGTAGTCCCGCGTAGTCCCGCGTAGTC CCGCGTAGCTCCCGTGTAGCTCCCGTGTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
F7_chr13_113100791_113125685	113107448	A A	AGGGTGTC others(200): Show AGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGT GTGGGTGTCCCGGGGGCGAGGGTGTCCCGGGGGTGTGGGTGTCCCAGGGG TCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGG AGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGG GGGAGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	361	0.0028	207	c.64+ others(222): Show c.64+1608_64+1609insCGAGGGTGTCCCGGGGGTGTGGGTGTCCCA GGGGTCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCC CGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTC CCGGGGGAGTGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGT GTCCCGGGAGTGTGGGTGTCCCGGGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM114A2_chr5_153985148_154043910	154025502	C C	CTCATAGA others(200): Show CTCATAGACTCCCTGAAAGGGTTTTGGGAATTCAAGGGTCTACAGACCAC ACTTTGTTCATCACTGATTTAACCTACTACATGGGTGATTGGCCCTATGT CTTAATGAAACCTGAGAGAATTTTTCCATTCACTTTTAATGTTTATAACT GATTATTTCATGAAGAAAAGGCAAAACTGTATTCATTAGATTCCACTTTT TTAAAAAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	342	0.0029	207	c.913 others(222): Show c.913+896_913+897insTTTTTTAAAAAAGTGGAATCTAATGAATAC AGTTTTGCCTTTTCTTCATGAAATAATCAGTTATAAACATTAAAAGTGAA TGGAAAAATTCTCTCAGGTTTCATTAAGACATAGGGCCAATCACCCATGT AGTAGGTTAAATCAGTGATGAACAAAGTGTGGTCTGTAGACCCTTGAATT CCCAAAACCCTTTCAGGGAGTCTATGA	FAM114A2	ENSG00000055147.19	transcript	ENST00000351797.9	protein_coding	8/13			chr5	TogoVar
FAM168A_chr11_73395487_73603112	73545004	T T	TTATATAT others(200): Show TTATATATTATATATAATATATATTATATATATTATATATAATATATTAT ATATAATATATTATATATATATTATATATAATATATTATATATAATATAT TATATATATATTATATATATTATATATAATATATATATAATATATATATA TAATATATTATATATATATATTATATATATAATATATATATAATATATTA TATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG03041.hp2 others(3): Show HG02723.hp2 HG02809.hp2 HG03041.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 others(3): Show a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0018	6	173	0.0347	207	c.-19 others(226): Show c.-19+52918_-19+52919insTATATATATAATATATTATATATATA TTATATATATAATATATATATATAATATATTATATATATATATTATATAT ATATTATATATAATATATATAATATATATATAATATATTATATATAATAT ATTATATATAATATATATATAATATATTATATATAATATATTATATATAA TATATATAATATATATTATATATAATATATA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FGD3_chr9_92942523_93041233	93010609	A A	AACAGAGG others(200): Show AACAGAGGGGAGGAGAGAGAGACACACAGAGACAGAGGAAGGAGGGGGAG AGAGAGGGATGGAGAAACAGACAGAGGGGAGGAGAGAGAGACACACAGAG ACAGAGGAAGGAGGGGGAGAGAGAGGGATGGAGAAACAGACAGAGGGGAG GAGAGAGAGACACACAGAGACAGAGGAAGGAGGGGGAGAGAGAGGGATGG AGAAACAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp1 NA19240.hp1 HG02630.hp1 HG02970.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0155 a0001c0005t0004g0156 a0001c0005t0004g0158 a0001c0005t0004g0155 a0001c0005t0004g0156 a0001c0005t0004g0158	3	92	0.0326	207	c.976 others(222): Show c.976+349_976+350insGGATGGAGAAACAGACAGAGGGGAGGAGAG AGAGACACACAGAGACAGAGGAAGGAGGGGGAGAGAGAGGGATGGAGAAA CAGACAGAGGGGAGGAGAGAGAGACACACAGAGACAGAGGAAGGAGGGGG AGAGAGAGGGATGGAGAAACAGACAGAGGGGAGGAGAGAGAGACACACAG AGACAGAGGAAGGAGGGGGAGAGAGAG	FGD3	ENSG00000127084.19	transcript	ENST00000375482.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FGFR4_chr5_177081915_177103144	177097063	C C	CCTCCTCT others(200): Show CCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCC TCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCCTCCTCCTCCT CCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTC TCCTCCTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0143 a0003c0007t0001g0143	1	367	0.0027	207	c.215 others(224): Show c.2154-227_2154-226insCCTCTTCCTCCTTCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCT CCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCC TGCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTC CTCCTCCTCTTCCTCCTTCTCCTCCTGCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FOXQ1_chr6_1307098_1319758	1317117	A A	AGCCCATT others(200): Show AGCCCATTCCCTCCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCC TCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCTCCCCCCT CCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCT ACCCCTCCCCCCACCCATCCCTCCTCCGCCCCCCCCCTCCAGCCTACCCC TCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0000 a0004c0003t0005g0000	1	404	0.0025	207	c.32 others(218): Show c.3201_*3202insGCCCATTCCCTCCTCCAGCCTACCCCTCCCCCCA CCCATCCCTCCTCCCTCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCC CTCCTCCTCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCGCCCCCCC CCTCCAGCCTACCCCTCCCCCCG	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2360		chr6	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(200): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGCGGGGGGGAGGGGGGCGGGGGGGAGGGGAGGGGGGCGGGGG GGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	19	0.0526	207	c.-20 others(216): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGCGGGGGGGAGGGGGGCGGGGGGGAGGGG AGGGGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GALNT9_chr12_132191372_132334589	132304425	G G	GCACACCC others(200): Show GCACACCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCCAGAC ACGCCCTCACCCGGGCACACCCTCACCCGGGCACATCCTCACCGGGGCAC ACCCTCACCCAGACACGCCCTCACCCGGGCACAGCCTCGCCCGGGCACAG CCTCGCCGGGCACACGCTCACCCAGACACACCCTCGCCCGGGCACACCCT CACCCAGA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	182	0.0055	207	c.239 others(226): Show c.239-17996_239-17995insTCTGGGTGAGGGTGTGCCCGGGCGAG GGTGTGTCTGGGTGAGCGTGTGCCCGGCGAGGCTGTGCCCGGGCGAGGCT GTGCCCGGGTGAGGGCGTGTCTGGGTGAGGGTGTGCCCCGGTGAGGATGT GCCCGGGTGAGGGTGTGCCCGGGTGAGGGCGTGTCTGGGTGAGGGCGTGT CTGGGTGAGGGTGTGCCCCGGTGAGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GAS6_chr13_113815549_113869076	113826577	G G	GCCGGCCT others(200): Show GCCGGCCTTGCAGGCACCTTCTCTCCCCAGCCTCCCGGCGCCAGCCTCGG CTTCGCGGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTTGCAGGCA CCTTCTCTCCCCAGCCTCCCGGCGCCAGCCTCGGCTTCGCGGGCACCTTC TCTCCCCGGCCTCCCGGCGCCGGCCTTGCAGGCACCTTCTCTCCCCGGCC TCCTGGCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	130	0.0077	207	c.147 others(224): Show c.1477+418_1477+419insTGCCAGGAGGCCGGGGAGAGAAGGTGCC TGCAAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCCGCGAAGCCGA GGCTGGCGCCGGGAGGCTGGGGAGAGAAGGTGCCTGCAAGGCCGGCGCCG GGAGGCCGGGGAGAGAAGGTGCCCGCGAAGCCGAGGCTGGCGCCGGGAGG CTGGGGAGAGAAGGTGCCTGCAAGGCCGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113826657	C C	CGGCCTCG others(200): Show CGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCAGCCTCGGCT TCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACC TTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCG GCCTCCCGGCGCCGGCCTCGGCTTCGCGGGCACCTTCTCTCCCCGGCCTC CTGGCACT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0035 a0001c0003t0001g0035	1	109	0.0092	207	c.147 others(224): Show c.1477+338_1477+339insAGTGCCAGGAGGCCGGGGAGAGAAGGTG CCCGCGAAGCCGAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGC GAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGC CGGGAGGCCGGGGAGAGAAGGTGCCTGCGAAGCCGAGGCTGGCGCCGGGA GGCCGGGGAGAGAAGGTGCCTGCGAGGCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GLOD4_chr17_754330_787280	762420	G G	GGCCTGCA others(200): Show GGCCTGCACCTACTCAGTGCGTGATCTTCAGGGATGAAGGGGAATAATTT CATCACCATCCAGGCCCCGGCCGGCACCTACTCAGTGCGTGATCTTCAGG GATGAAGGGGAATAATTTCATCACCATCCAGGCCCCGGCCGGCACCTACT CAGTGCGTGATCTTCAGGGATGAAGGGGAATAATTATTTCATCACCATCC AGGCCCCT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	418	0.0024	207	c.832 others(224): Show c.832-2389_832-2183dupAGGGGCCTGGATGGTGATGAAATAATTA TTCCCCTTCATCCCTGAAGATCACGCACTGAGTAGGTGCCGGCCGGGGCC TGGATGGTGATGAAATTATTCCCCTTCATCCCTGAAGATCACGCACTGAG TAGGTGCCGGCCGGGGCCTGGATGGTGATGAAATTATTCCCCTTCATCCC TGAAGATCACGCACTGAGTAGGTGCAGGC	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GPER1_chr7_1083113_1098810	1089920	T T	TAAAAATA others(200): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GTTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0082 a0001c0001t0005g0082	1	443	0.0023	207	c.-32 others(226): Show c.-322-1480_-322-1479insCAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGTTACTGGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATA	GPER1	ENSG00000164850.16	transcript	ENST00000397088.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR137B_chr1_236137539_236213907	236186228	A A	ATATAATA others(200): Show ATATAATAATATATATAATATATAATATATATTATATATAATAATATAAA TAATATATAATATATATTATATATAATAATATAAATAATATATAATATAT ATTATATATAATAATATAAATAATATATAATATATATTATATATAATAAT ATAAATAATATATAATATATATTATATATAATAATATAAATAATATATAA TATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG02615.hp1 HG00140.hp1 HG00735.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0045 a0001c0001t0001g0284 a0001c0001t0012g0257 a0001c0001t0001g0045 a0001c0001t0001g0284 a0001c0001t0012g0257	3	363	0.0083	207	c.966 others(224): Show c.966+2322_966+2323insTATAATAATATATATAATATATAATATA TATTATATATAATAATATAAATAATATATAATATATATTATATATAATAA TATAAATAATATATAATATATATTATATATAATAATATAAATAATATATA ATATATATTATATATAATAATATAAATAATATATAATATATATTATATAT AATAATATAAATAATATATAATATATATT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6			chr1	TogoVar
GPR137B_chr1_236137539_236213907	236186228	A A	ATATAATA others(200): Show ATATAATAATATATATAATATATAATATATATTATATATAATAATATATA TAATATATAATATATATTATATATAATAATATAAATAATATATAATATAT ATTATATATAATAATATAAATAATATATAATATATATTATATATAATAAT ATAAATAATATATAATATATATTATATATAATAATATAAATAATATATAA TATATATT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG02683.hp2 HG01346.hp2 HG01358.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0305 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0305	3	363	0.0083	207	c.966 others(224): Show c.966+2322_966+2323insTATAATAATATATATAATATATAATATA TATTATATATAATAATATATATAATATATAATATATATTATATATAATAA TATAAATAATATATAATATATATTATATATAATAATATAAATAATATATA ATATATATTATATATAATAATATAAATAATATATAATATATATTATATAT AATAATATAAATAATATATAATATATATT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116281	A A	AATTATAT others(200): Show AATTATATTATATATATTATATTATATATAATTATATTATATATTATATG TAATATAAATATATATAATTATATTATATATATTATATGTAATATAATTA TATATATTTATATTATATATTATATATAATATAATTATATATATAATTAT AATATATATTATATATAATATAATTATATATATAATTTATATATATTATA TATAATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0089 a0002c0002t0012g0090 a0002c0002t0012g0089 a0002c0002t0012g0090	2	256	0.0078	207	c.384 others(224): Show c.384-4793_384-4792insATATTATATATAATATATATAAATTATA TATATAATTATATTATATATAATATATATTATAATTATATATATAATTAT ATTATATATAATATATAATATAAATATATATAATTATATTACATATAATA TATATAATATAATTATATATATTTATATTACATATAATATATAATATAAT TATATATAATATAATATATATAATATAAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(200): Show TAGTAACTATATTAATATTATAGTTAGTATATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA20905.hp1 NA21309.hp1 NA19043.hp1 NA20905.hp1 NA21309.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0004 a0008c0008t0004	a0008c0008t0004g0008 a0008c0008t0004g0009 a0008c0008t0004g0010 a0008c0008t0004g0008 a0008c0008t0004g0009 a0008c0008t0004g0010	3	136	0.0221	207	c.-28 others(218): Show c.-2852_-2851insAGTAACTATATTAATATTATAGTTAGTATATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAT others(200): Show ACACACATATATATTATATATATATTATATATATATATTATATATATATT ATATATATATTATATATATATATTATATATATATTATATATATATATATA TATATATTATATATATATTATATATATATATATTATATATATATTATATA TATATTATATATATATTATATATATATTATATATATAATATATATATAAT ATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	162	0.0062	207	c.912 others(226): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATATATAATATATATATAATATATATATATATATATATATAAT ATATATATAATATATATATATAATATATATATAATATATATATAATATAT ATATATAATATATATATAATATATATGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRTP1_chr13_113319163_113369130	113346818	A A	AGTGGACC others(200): Show AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTC TGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGTGGACCTG GGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCCGAG AGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTC TGTGGCTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	115	0.0087	207	c.466 others(224): Show c.466-1860_466-1859insCAGCCACAGAGATCCTCCTGGGTCTGCT CTCAGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCC CGGGTCTGCTCTTTGCCACAGAGGTCCTCCCAGGTCCACTCTCAGCCACA GAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCT CTCAGCCACAGAGGTCCTCCCGGGTCCAC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACAAA others(200): Show CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC ACACACAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp2 HG00741.hp1 HG01123.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0072 a0002c0002t0001g0108 a0001c0003t0001g0072 a0002c0002t0001g0108	2	70	0.0286	207	c.488 others(222): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTCTCTGTGT GTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTG TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTG TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGT CGGGATGTATTTACTGTGTGTTTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106709823	A A	ACACGTAT others(200): Show ACACGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATAT ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATATAGTTATATATTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03834.hp2 HG00099.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0201 a0001c0002t0002g0198 a0001c0002t0002g0201	2	251	0.0080	207	c.183 others(226): Show c.1837-1158_1837-1157insCTATATATTCTATACGTGTATATAAC TATATATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAAT ATATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTA TACGTGTATATAACTATATATTCTATACGTG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HELZ2_chr20_63553086_63579239	63566650	C C	CGACAAGG others(200): Show CGACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAACGCAGGACGCA GTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCG GGGATGAGCGCAGGGCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGAC GGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGG CCACCCCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG01884.hp2 others(30): Show HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0004 a0025 a0029 others(5): Show a0004 a0025 a0029 a0032 a0057 a0060 a0067 a0083	a0004c0004 a0004c0008 a0004c0122 others(10): Show a0004c0004 a0004c0008 a0004c0122 a0004c0125 a0004c0127 a0004c0128 a0025c0036 a0029c0034 a0032c0038 a0057c0130 a0060c0042 a0067c0123 a0083c0119	a0004c0004t0001 a0004c0004t0013 a0004c0004t0015 others(25): Show a0004c0004t0001 a0004c0004t0013 a0004c0004t0015 a0004c0004t0016 a0004c0004t0026 a0004c0004t0043 a0004c0004t0045 a0004c0004t0046 a0004c0004t0055 a0004c0004t0056 a0004c0008t0013 a0004c0008t0014 a0004c0008t0015 a0004c0008t0016 a0004c0008t0025 a0004c0008t0041 a0004c0122t0075 a0004c0125t0026 a0004c0127t0110 a0004c0128t0001 a0025c0036t0002 a0025c0036t0036 a0029c0034t0068 a0032c0038t0025 a0057c0130t0013 a0060c0042t0002 a0067c0123t0074 a0083c0119t0008	a0004c0004t0001g0228 a0004c0004t0013g0029 a0004c0004t0015g0253 others(26): Show a0004c0004t0001g0228 a0004c0004t0013g0029 a0004c0004t0015g0253 a0004c0004t0016g0031 a0004c0004t0026g0030 a0004c0004t0043g0091 a0004c0004t0045g0254 a0004c0004t0046g0251 a0004c0004t0055g0255 a0004c0004t0056g0256 a0004c0008t0013g0011 a0004c0008t0013g0097 a0004c0008t0014g0234 a0004c0008t0015g0074 a0004c0008t0016g0075 a0004c0008t0025g0063 a0004c0008t0041g0064 a0004c0122t0075g0227 a0004c0125t0026g0257 a0004c0127t0110g0243 a0004c0128t0001g0229 a0025c0036t0002g0160 a0025c0036t0036g0171 a0029c0034t0068g0100 a0032c0038t0025g0066 a0057c0130t0013g0250 a0060c0042t0002g0185 a0067c0123t0074g0159 a0083c0119t0008g0230	33	351	0.0940	207	c.251 others(224): Show c.2514+193_2514+194insTGGGGTGGCCCAGTCCTCACTGAGTCCT GCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGC CCAGTCCTCACTGCGCCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCG TCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCC GAGCTTGGTGGGGGTGCCCTCTCCTTGTC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566650	C C	CGACAAGG others(200): Show CGACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAACGCAGGACGCA GTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCG GGGATGAGCGCAGGGCGCAGTGAGGACTGGGCCACCCCTGACAAGGAGAC GGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGG CCACCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG03579.hp1 HG02055.hp2 HG02630.hp2 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0049 a0004c0004t0020 a0004c0004t0049	a0004c0004t0020g0028 a0004c0004t0049g0252 a0004c0004t0020g0028 a0004c0004t0049g0252	3	321	0.0093	207	c.251 others(224): Show c.2514+193_2514+194insTGGGGTGGCCCAGTCCTCACTGAGTCCT GCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCAGGGGTGGC CCAGTCCTCACTGCGCCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCG TCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCC GAGCTTGGTGGGGGTGCCCTCTCCTTGTC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar

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