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
WDR7_chr18_56646359_57034792	57024554	AGCTATGA others(201): Show AGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG GCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG02647.hp1 others(1): Show HG01884.hp2 HG02572.hp2 HG02647.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0009 a0001c0004t0012 a0001c0005t0007 a0001c0003t0009 a0001c0004t0012 a0001c0005t0007	a0001c0003t0009g0129 a0001c0004t0012g0083 a0001c0005t0007g0126 others(1): Show a0001c0003t0009g0129 a0001c0004t0012g0083 a0001c0005t0007g0126 a0001c0005t0007g0127	4	103	0.0388	-208	c.427 others(19): Show c.4270-2449_4270-2242del		WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27						chr18	TogoVar
WDR7_chr18_56646359_57034792	57024691	GAACTATG others(201): Show GAACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCA GACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATT TCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAG TTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGG GATATGTGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG01891.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0010 a0001c0005t0012 a0001c0003t0010 a0001c0005t0012	a0001c0003t0010g0136 a0001c0005t0012g0034 a0001c0003t0010g0136 a0001c0005t0012g0034	2	131	0.0153	-208	c.427 others(19): Show c.4270-2311_4270-2104del		WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr18	TogoVar
XG_chrX_2747040_2821500	2773566	AGAAGGAA others(201): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAA GGAAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp2 HG03041.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0002c0003t0008 a0001c0001t0010 a0002c0003t0008	a0001c0001t0010g0192 a0002c0003t0008g0064 a0001c0001t0010g0192 a0002c0003t0008g0064	2	312	0.0064	-208	c.104 others(16): Show c.104-1071_104-864del		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZEB2_chr2_144379081_144525119	144497860	TATATATA others(201): Show TATATATATATGTCATTCTCAACATATATATATATGTCATTCTCAACATA TATATTATATATTATATAATATATATTAATATTATATATTATATAATATA TATTAATATTATATATTATATAATATATTAATATTATATATTATATAATA TATTAATATTATATATTATATAATATATATTAATATTATATATTATATAA TATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0243 a0001c0001t0006g0243	1	210	0.0048	-208	c.73+ others(17): Show c.73+19210_73+19417del		ZEB2	ENSG00000169554.23	transcript	ENST00000627532.3	protein_coding	2/9						chr2	TogoVar
ZNF611_chr19_52697813_52740044	52732364	TTATTCTG others(201): Show TTATTCTGAATAACTCACAGTATTGAGTTATTCTGAATAACTCACAGTAT TGAGTTATTCTGAATAACTCACAGTATTGAGTTATTCAGAATAACTCACA GTATTGAGTTATTCAGAATAACTCACAGTATTGAGTTATTCAGAATAACT CACAGTATTGAGTTATTCAGAATAACTCACAGTATTGAGTTATTCAGAAT AACTCACAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00735.hp1 others(32): Show HG00408.hp1 HG00423.hp2 HG00735.hp1 HG01243.hp1 HG01516.hp1 HG01891.hp1 HG02004.hp1 HG02040.hp1 HG02109.hp1 HG02258.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp2 NA18964.hp1 NA18966.hp2 NA18980.hp1 NA18983.hp2 NA18988.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0006c0016	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0002c0002t0001 a0002c0003t0006 a0006c0016t0005	a0001c0001t0002g0002 a0001c0001t0005g0005 a0001c0001t0007g0006 others(5): Show a0001c0001t0002g0002 a0001c0001t0005g0005 a0001c0001t0007g0006 a0001c0001t0007g0044 a0002c0002t0001g0001 a0002c0003t0006g0014 a0002c0003t0006g0023 a0006c0016t0005g0042	35	406	0.0862	-208	c.-22 others(19): Show c.-222+2429_-221-2360del		ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	1/5						chr19	TogoVar
ADAP1_chr7_892900_959680	933961	GGTGCTGG others(200): Show GGTGCTGGAGAGCCGGGGGCCGGGGTCAGTGGTGCTGGAGAGCCGGGGGC CGGGGTCAGTGGTGGTGCAGAGCCGGGGACCGGGGTCAGTGGTGCTGGAG AGCCGGGGACTGGGGTCAGTGGTGCTGGAGAGCCGGGAGCCGGGGTCAGT GGTGCTGGAGAGCCGGGGGCCGGGGTCAGTGGTGGTGCAGAGCCGGGGAC CGGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp2 HG01346.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0003g0005 a0001c0001t0001g0007 a0001c0001t0003g0005	2	12	0.1667	-207	c.213 others(17): Show c.213+1207_213+1413del		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	2/10						chr7	TogoVar
ADSS1_chr14_104719229_104752310	104720443	TCTCGTGT others(200): Show TCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACATCTGCGTAGTCTCGTGTGGATGCTGCTGTGAACGTCTGCG TAGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTAGTCTCGTGTGGATG CTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCT GCGTCGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01981.hp1 HG01516.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0255 a0001c0001t0001g0256	2	383	0.0052	-207	c.-38 others(11): Show c.-3827_-3621del		ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding					3785		chr14	TogoVar
AKAP17A_chrX_1586604_1607520	1596648	CCCTCCTA others(200): Show CCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCTCCCACCCTCC TAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCG CTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCC TGCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	149	0.0067	-207	c.911 others(17): Show c.911+1148_911+1354del		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1596685	ATCCCTCC others(200): Show ATCCCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTC CCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCC TCCATCCCTCCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCT CCTCCATCCCTCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCTC CTTCTCCG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0042 a0002c0003t0004g0042	1	149	0.0067	-207	c.911 others(17): Show c.911+1177_911+1383del		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKRD11_chr16_89262630_89495561	89328552	AGAGGCCC others(200): Show AGAGGCCCCTGCTGAGTGAGTGGACACACCCAGGCGTACGGGTGAATCTG CAGAGGCCCCTGCTGAGTGAGTGGACACACCCAGGAGCACGGGCGAAATC AGCGGAGGCCCCTGCTGAGTGAGTGGACACACCCAGGAGCACGGGCGAAA TCAGTGGAGGCCCCTGCTGAGTGAGTGGACATACCCAGGAGCACGGGCGA AATCAGCG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0088 a0005c0005t0001g0088	1	308	0.0032	-207	c.-59 others(19): Show c.-59-11681_-59-11475del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12						chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89328681	CACCCAGG others(200): Show CACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTGAGTGAGTGGA CATACCCAGGAGCACGGGCGAAATCAGCGGAGGCCCCTGCTGAGTGAGTG GACACACCCAGGCGCACGGGCGAATCAGCGGAGGCCCCTGCTGAGTGAGT GGACATACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTGAGTGA GTGGACAT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0134 a0003c0003t0001g0134	1	306	0.0033	-207	c.-59 others(19): Show c.-59-11810_-59-11604del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12						chr16	TogoVar
ANO3_chr11_26327130_26668289	26529161	TATAATAT others(200): Show TATAATATATATTATTAATAATATATATTATATATAATTATATAATATAT ATTATATAATATAATATATAATATATATTATATAATATATATTATATAAT ATATATTATATATTATATAATATATAATATATATTATATAATATATATTA TATAATATATAATAGTATATAATATATAATAATATATTATATAATAATAT ATTATATA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0062 a0001c0005t0012g0175 a0001c0005t0012g0062 a0001c0005t0012g0175	2	186	0.0108	-207	c.738 others(17): Show c.738-2038_738-1832del		ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARMS2_chr10_122449653_122462352	122457349	TGCACTTG others(200): Show TGCACTTGCTGCATTTCAAATGCTTGGCAGTCACATGTAGTTAGTGGCTA CCCTCTTGGACAGCACAGATAGAGATTATTTCCATCACTGCAGAAAATTC TAGACTTTGAGCTTCTTGAGGACAGGGGCTTGATCATTCGACACTGCTTT ACAGTGTCTAGCAGTGTCTACCCTGTGGCAGGGGCTCAGGAAATTTTTCC TGAACCGA	T T	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(126): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp1 HG03831.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0012 a0002c0002t0002g0002 a0002c0002t0002g0007 others(6): Show a0001c0001t0002g0012 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0033 a0003c0003t0002g0012	129	422	0.3057	-207	c.41 others(9): Show c.417_*623del		ARMS2	ENSG00000254636.1	transcript	ENST00000528446.1	protein_coding	2/2						chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049670	AGGGGAAC others(200): Show AGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACA CATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGG CAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAG AACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGG GGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0114 a0002c0002t0003g0114	1	281	0.0036	-207	c.48 others(11): Show c.4854_*5060del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2433		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049880	GGAACACA others(200): Show GGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAG AGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAAC ACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGAGG GCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 NA18950.hp1 NA19074.hp2 HG00735.hp1 NA18950.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0015 a0002c0002t0003 a0002c0002t0015	a0002c0002t0003g0118 a0002c0002t0003g0138 a0002c0002t0015g0116 a0002c0002t0003g0118 a0002c0002t0003g0138 a0002c0002t0015g0116	3	231	0.0130	-207	c.46 others(11): Show c.4644_*4850del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2223		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049946	CACATGGG others(200): Show CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGG GGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGG GAATACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACAT GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAG AGGGGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG03098.hp1 HG00642.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0041 a0001c0001t0014g0153 a0001c0001t0001g0041 a0001c0001t0014g0153	2	303	0.0066	-207	c.45 others(11): Show c.4578_*4784del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2157		chr8	TogoVar
C11orf21_chr11_2290628_2306918	2291549	CACAGAGG others(200): Show CACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACTCCCCGCTTTAT TCACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACTCCCCACTTTA TTCGCAGAGGTGTGCCTCCCGCAGCACCCCCAAAAACAACTCCCCGCTTT ATTCACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACTCCCCGCTT TAGTATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01175.hp2 HG01257.hp2 others(9): Show HG00558.hp1 HG01175.hp2 HG01257.hp2 HG01943.hp2 HG01975.hp1 HG02015.hp2 HG02135.hp1 HG02148.hp2 HG02698.hp1 HG03834.hp2 NA18941.hp1 NA19083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0005 a0001c0003t0005g0023 a0001c0003t0005g0059 others(1): Show a0001c0003t0005g0005 a0001c0003t0005g0023 a0001c0003t0005g0059 a0001c0003t0005g0061	12	424	0.0283	-207	c.61 others(11): Show c.6194_*6400del		C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding					4078		chr11	TogoVar
C2CD4C_chr19_400445_414147	400669	GGGGTTCC others(200): Show GGGGTTCCCAGGCCCACCCTCACTCTTGCAGGGGTTCCCAGGCCCACCCT CACTCTTCCAGGGTTCCCAGGCCCACCCTCACTCTTCCAGGGGTCCCCAG GCCCACCCTCACTCTTCCAGGGGTCCCCAGGCCCACCCTCACTCTTCCAG CGGTTCCCAGGCCCACCCTCACTCTTCCAGGGTTCCCAGGCCCACCCTCA CTCTTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 NA20905.hp1 HG03017.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0038 a0001c0002t0029g0038	2	320	0.0063	-207	c.62 others(11): Show c.6220_*6426del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					4775		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53962565	TATTAGCG others(200): Show TATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGA CGACTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTA TTAATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGG TGGGATGACTTTCTTGGGCAGAAGACAAGAGTGGAGAGAGATTTCATCTT ATTTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18978.hp1 NA18990.hp2 others(2): Show NA18975.hp2 NA18978.hp1 NA18990.hp2 NA19079.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0050 a0001c0001t0120 a0001c0001t0012 a0001c0001t0050 a0001c0001t0120	a0001c0001t0012g0002 a0001c0001t0050g0014 a0001c0001t0050g0030 others(1): Show a0001c0001t0012g0002 a0001c0001t0050g0014 a0001c0001t0050g0030 a0001c0001t0120g0195	5	392	0.0128	-207	c.-57 others(9): Show c.-577_-371del		CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding					371		chr19	TogoVar
CD209_chr19_7734993_7752534	7745700	TGCTTAGA others(200): Show TGCTTAGATTTCTCTGGAAGCTCACCCACTGCAGCCTTCAGCCGAGTCAG CTCCTGGTAGATCTCCTGCATCTTAGATTTCTCTGGAAGCTCACCCACTG CAGCCTTCAGCCAGGTCAGCTCCTGGTAGATCTCCTGCAGCTTAGATTTC TCTGGAAGCTCACCCACTGCAGCCTTCAGCCGGGTCAGCTCCTGGTAGAT CTCCTGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18956.hp2 NA18956.hp2	a0013 a0013	a0013c0008 a0013c0008	a0013c0008t0001 a0013c0008t0001	a0013c0008t0001g0042 a0013c0008t0001g0042	1	452	0.0022	-207	c.359 others(7): Show c.359_565del	p.Leu others(13): Show p.Leu120_Lys188del	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding	4/7	588/4284	359/1215	120/404			chr19	TogoVar
CDK14_chr7_90591321_91215590	90744633	CCGGGGGC others(200): Show CCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTC CCTGCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACGCCCCCACCTCC CTCCCGGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00673.hp1 others(26): Show HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01993.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02922.hp2 HG03209.hp1 HG03654.hp1 NA18906.hp2 NA18957.hp1 NA19064.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0037	a0001c0001t0001g0064 a0001c0001t0001g0125 a0001c0001t0001g0131 others(26): Show a0001c0001t0001g0064 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0002g0047 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0003g0133 a0001c0001t0004g0046 a0001c0001t0004g0092 a0001c0001t0004g0128 a0001c0001t0004g0135 a0001c0001t0005g0166 a0001c0001t0006g0027 a0001c0001t0006g0120 a0001c0001t0006g0122 a0001c0001t0007g0048 a0001c0001t0007g0144 a0001c0001t0008g0118 a0001c0001t0008g0123 a0001c0001t0012g0130 a0001c0001t0019g0067 a0001c0001t0024g0127 a0001c0001t0037g0119	29	166	0.1747	-207	c.370 others(17): Show c.370-2984_370-2778del		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
CLEC4M_chr19_7758243_7774605	7765845	GGCTGAAG others(200): Show GGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAG ATCTACCAGGAGCTGACCCGGCTGAAGGCTGCAGTGGGTGAGTTGCCAGA GAAATCCAAGCTGCAGGAGATCTACCAGGAGCTGACCCGGCTGAAGGCTG CAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAGATCTACCAGGAG CTGACGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG01517.hp1 HG00323.hp1 HG01517.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0015 a0006c0010t0003g0015	2	458	0.0044	-207	c.491 others(7): Show c.491_697del	p.Arg others(13): Show p.Arg164_Thr232del	CLEC4M	ENSG00000104938.18	transcript	ENST00000327325.10	protein_coding	4/7	515/1841	491/1200	164/399		INFO_REALIGN_3_PRIME	chr19	TogoVar
COL18A1_chr21_45400165_45518720	45486251	CTCCCCTT others(200): Show CTCCCCTTGCCTGCCGGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTC CTCTCCTCTCTCCTCTCTTCTCCCCTCGCCTGCCGGGGAGCCAGGGCTGG TCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTCGCCT GCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTC CTCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00733.hp2 others(37): Show HG00544.hp1 HG00639.hp2 HG00733.hp2 HG01167.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp1 NA18906.hp2 NA18944.hp1 NA18964.hp2 NA18969.hp1 NA18975.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp2 NA19010.hp2 NA19088.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0007 others(9): Show a0001 a0002 a0007 a0008 a0014 a0020 a0021 a0024 a0025 a0027 a0031 a0032	a0001c0009 a0001c0010 a0001c0015 others(22): Show a0001c0009 a0001c0010 a0001c0015 a0001c0022 a0001c0036 a0001c0043 a0001c0044 a0001c0045 a0001c0095 a0002c0012 a0002c0064 a0002c0080 a0002c0081 a0002c0100 a0007c0098 a0008c0038 a0008c0101 a0014c0082 a0020c0093 a0021c0091 a0024c0065 a0025c0042 a0027c0083 a0031c0063 a0032c0092	a0001c0009t0001 a0001c0010t0002 a0001c0010t0006 others(23): Show a0001c0009t0001 a0001c0010t0002 a0001c0010t0006 a0001c0015t0001 a0001c0022t0001 a0001c0036t0004 a0001c0043t0006 a0001c0044t0001 a0001c0045t0001 a0001c0095t0001 a0002c0012t0004 a0002c0064t0001 a0002c0080t0001 a0002c0081t0002 a0002c0100t0001 a0007c0098t0005 a0008c0038t0001 a0008c0101t0002 a0014c0082t0002 a0020c0093t0015 a0021c0091t0011 a0024c0065t0010 a0025c0042t0001 a0027c0083t0002 a0031c0063t0010 a0032c0092t0001	a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 others(37): Show a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 a0001c0009t0001g0247 a0001c0010t0002g0046 a0001c0010t0002g0138 a0001c0010t0002g0152 a0001c0010t0006g0014 a0001c0015t0001g0128 a0001c0015t0001g0172 a0001c0015t0001g0202 a0001c0022t0001g0007 a0001c0022t0001g0111 a0001c0022t0001g0184 a0001c0036t0004g0018 a0001c0036t0004g0019 a0001c0043t0006g0245 a0001c0044t0001g0002 a0001c0045t0001g0047 a0001c0095t0001g0006 a0002c0012t0004g0029 a0002c0012t0004g0039 a0002c0012t0004g0180 a0002c0012t0004g0188 a0002c0064t0001g0040 a0002c0080t0001g0240 a0002c0081t0002g0214 a0002c0100t0001g0116 a0007c0098t0005g0017 a0008c0038t0001g0054 a0008c0038t0001g0174 a0008c0101t0002g0003 a0014c0082t0002g0085 a0020c0093t0015g0173 a0021c0091t0011g0053 a0024c0065t0010g0004 a0025c0042t0001g0035 a0027c0083t0002g0154 a0031c0063t0010g0044 a0032c0092t0001g0124	40	290	0.1379	-207	c.170 others(17): Show c.1702-603_1702-397del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A2_chr13_110302284_110518209	110481730	TTCTGTCC others(200): Show TTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCATTGCTGG AGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGC TCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGA CACACTGC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0019 a0001c0022t0019	a0001c0022t0019g0130 a0001c0022t0019g0130	1	271	0.0037	-207	c.275 others(17): Show c.2759-772_2759-566del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587947	CCCCCCGT others(200): Show CCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCC GTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp1 HG00099.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0103 a0001c0001t0001g0108	2	322	0.0062	-207	c.928 others(15): Show c.928-718_928-512del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923733	CCCCCACA others(200): Show CCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCG GCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACT AACCCAGT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0044 a0044	a0044c0071 a0044c0071	a0044c0071t0001 a0044c0071t0001	a0044c0071t0001g0016 a0044c0071t0001g0016	1	337	0.0030	-207	c.488 others(17): Show c.488+1144_488+1350del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
DTNA_chr18_34705298_34896844	34790342	AGGGGTAT others(200): Show AGGGGTATAAAACCCGGAGACAGGGTTTCTGATCCAGCCCAGAAAGATAT CCTTGAGGAAGTAATGTTGACGCCAAGGTATAGTAGATGAGATGTAGATG AGAAGTACACAGGGGCTAGATGAAAAAAGAAAAGAAAGAAAAAAAACTTC AATCCTTGTTTAGATTTCAAATTAATGGGAAGTTATTAAAGGACTTTAAG CAGCATAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02572.hp1 others(7): Show HG02055.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0005t0010	a0001c0001t0001g0014 a0001c0001t0001g0071 a0001c0001t0001g0085 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0003g0091 a0001c0001t0015g0046 a0001c0001t0017g0088 a0001c0001t0020g0092 a0001c0005t0010g0089	10	94	0.1064	-207	c.149 others(17): Show c.149-3694_149-3488del		DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22						chr18	TogoVar
EML1_chr14_99788413_99947060	99928002	GTGGAGGT others(200): Show GTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0005 a0001c0007t0002g0005	1	281	0.0036	-207	c.190 others(19): Show c.1909+7129_1909+7335del		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360851	CTCCACCA others(200): Show CTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCA CCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCACC ACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTC CACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCT CCAGCACT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	228	0.0044	-207	c.544 others(19): Show c.544-10250_544-10044del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361547	GCACCACC others(200): Show GCACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCC AGCACTACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCTC CACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCT CCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCACCACC ACCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0051 a0001c0001t0021g0051	1	134	0.0075	-207	c.544 others(19): Show c.544-10946_544-10740del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GLOD4_chr17_754330_787280	762492	GGCACCTA others(200): Show GGCACCTACTCAGTGCGTGATCTTCAGGGATGAAGGGGAATAATTTCATC ACCATCCAGGCCCCGGCCGGCACCTACTCAGTGCGTGATCTTCAGGGATG AAGGGGAATAATTATTTCATCACCATCCAGGCCCCTGCCTGCACCTACTC AGTGTGTGATCTTCAGGGATGAAGGGGAATAATTTCATCACCATCCAGGC CCCGGCCT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03516.hp2 HG02809.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0057 a0001c0001t0005g0084 a0001c0001t0005g0057 a0001c0001t0005g0084	2	416	0.0048	-207	c.832 others(17): Show c.832-2461_832-2255del		GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8						chr17	TogoVar
GMDS_chr6_1618806_2250605	1905269	CAAAGGTG others(200): Show CAAAGGTGCCTGTGCATCTGCATGTGGGGCCAGCACATAGCTGTGGGTGC TGGCGTGTAGGTGGGACCTCAAAGGTGCCTGTGCATCTGCATGTGGGGCC AGCACATAGCTGTGGGTGCTGGCGTGTAGGTGGGACCTCAAAGGTGCCTG TGCATCTGCATGTGGGGCCAGCACATAGCTATGGGTGCTGGCGTGTAGGT GGGGCCTA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02723.hp1 others(3): Show HG02486.hp1 HG02559.hp1 HG02723.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0037 a0001c0001t0002g0085 a0001c0001t0002g0089 others(3): Show a0001c0001t0002g0037 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0122 a0001c0002t0001g0090 a0001c0002t0002g0042	6	164	0.0366	-207	c.771 others(19): Show c.771+24627_771+24833del		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GOLGA6L26_chr15_23319535_23339196	23327018	CCTCCTGT others(200): Show CCTCCTGTTCTTGCATCTTCTCTTCCTGCTCACACATCTTCTCCTCCTGC TCCCACATCTTCTCTTCCTGTTCCTGCATCATCTCCTCCTGCTCTCGTAT CTTCTCCTCCTGCTCCCATATCTTCTCCTCCTGCTCTCGTATCTTCTCCT TCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCCTC CGCATCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03239.hp1 HG03239.hp1	a0030 a0030	a0030c0021 a0030c0021	a0030c0021t0002 a0030c0021t0002	a0030c0021t0002g0025 a0030c0021t0002g0025	1	182	0.0055	-207	c.163 others(9): Show c.1636_1842del	p.Lys others(13): Show p.Lys546_Glu614del	GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding	8/9	1903/3731	1636/1950	546/649			chr15	TogoVar
HTRA1_chr10_122456553_122519907	122457349	TGCACTTG others(200): Show TGCACTTGCTGCATTTCAAATGCTTGGCAGTCACATGTAGTTAGTGGCTA CCCTCTTGGACAGCACAGATAGAGATTATTTCCATCACTGCAGAAAATTC TAGACTTTGAGCTTCTTGAGGACAGGGGCTTGATCATTCGACACTGCTTT ACAGTGTCTAGCAGTGTCTACCCTGTGGCAGGGGCTCAGGAAATTTTTCC TGAACCGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(97): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03669.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18969.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 others(91): Show a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0336 a0001c0002t0001g0337	100	360	0.2778	-207	c.-43 others(11): Show c.-4303_-4097del		HTRA1	ENSG00000166033.13	transcript	ENST00000368984.8	protein_coding					4203		chr10	TogoVar
IL3RA_chrX_1331785_1387689	1367062	GGGGTGAG others(200): Show GGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGT GAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTG AGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGCGCGG GGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	111	0.0090	-207	c.874 others(17): Show c.874+1816_874+2022del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
INF2_chr14_104684618_104727535	104720443	TCTCGTGT others(200): Show TCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACATCTGCGTAGTCTCGTGTGGATGCTGCTGTGAACGTCTGCG TAGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTAGTCTCGTGTGGATG CTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCT GCGTCGTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0055 a0012c0024t0055	a0012c0024t0055g0032 a0012c0024t0055g0032	1	365	0.0027	-207	c.17 others(11): Show c.1709_*1915del		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5163	INFO_REALIGN_3_PRIME	chr14	TogoVar
IPCEF1_chr6_154149496_154361803	154357675	ATTATATA others(200): Show ATTATATATATATTATATATAATATATATATTATATATATATTATATATA TAATATATATATTATATATATTATATATATATAATATATAAAATATATAT ATTATATATATAAAATATATATAATATATATAATATATATATAAAATATA TATAATATATATAATATATATATAAAATATATATATAAAATATATATATA TATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	254	0.0039	-207	c.-12 others(11): Show c.-1272_-1066del		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding					873		chr6	TogoVar
LMF1_chr16_848634_975984	857938	CGTGGTGT others(200): Show CGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGA TGGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0049 a0006c0049	a0006c0049t0001 a0006c0049t0001	a0006c0049t0001g0243 a0006c0049t0001g0243	1	169	0.0059	-207	c.153 others(19): Show c.1530-3439_1530-3233del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89328552	AGAGGCCC others(200): Show AGAGGCCCCTGCTGAGTGAGTGGACACACCCAGGCGTACGGGTGAATCTG CAGAGGCCCCTGCTGAGTGAGTGGACACACCCAGGAGCACGGGCGAAATC AGCGGAGGCCCCTGCTGAGTGAGTGGACACACCCAGGAGCACGGGCGAAA TCAGTGGAGGCCCCTGCTGAGTGAGTGGACATACCCAGGAGCACGGGCGA AATCAGCG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	366	0.0027	-207	c.10- others(17): Show c.10-11684_10-11478del		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89328681	CACCCAGG others(200): Show CACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTGAGTGAGTGGA CATACCCAGGAGCACGGGCGAAATCAGCGGAGGCCCCTGCTGAGTGAGTG GACACACCCAGGCGCACGGGCGAATCAGCGGAGGCCCCTGCTGAGTGAGT GGACATACCCAGGAGCACGGGCGAAATCAGTGGAGGCCCCTGCTGAGTGA GTGGACAT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	364	0.0027	-207	c.10- others(17): Show c.10-11813_10-11607del		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1902994	TTGCGGAA others(200): Show TTGCGGAACTCATGATTGATGAAGCACTGTTCCAGGCAGCGAGAATGCAG TGGCCTATGGAAGACACTCTTGTGGAATTCATGATTAATGAAGCACTGTT CCAGGCAGCGAGGACGCAGTGGCCTATGGAAGACGCTCTTGCGGAACTCA TGATTGATCCAGCACTGTTCCAGGCAGCAAGCACACGGTGGCCTATTGAA GACGCTCC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	262	0.0038	-207	c.180 others(19): Show c.1808-4811_1808-4605del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1905292	AAAGCACT others(200): Show AAAGCACTGTTCCAGGCAGCAAGGATGCAGTGGCCTATGGAAGACGTTCT TGTGGAACTCATGATTGATAAAGCACTGTTCCAGGCAGCGAGGATGCAGT GGCCTACGGAAGACGCTCTTGTGGAACTCATGATTGATGAAGCACTGTTC CAGGCAGCAAGCACGCAGTGGCCTATGGAAGACGCTCTTGCGGAACTCAT GATTGATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 NA18522.hp1 HG01884.hp2 HG02257.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0149	3	262	0.0115	-207	c.180 others(19): Show c.1808-7109_1808-6903del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MIER2_chr19_300573_349796	312663	GATGTCAG others(200): Show GATGTCAGGGCCACCTACACCTCTATCCAGGGAGTGACATCAGGGGCCGT CCACACCACCCTCCTGGGCGATGTCAGGGCCACCTACACCTCTATCCAGG GAGTGACATCAGGGGCCGTCCACACCACCCTCCTGGGCGATGTCAGGGCC ACCTACACCTCTATCCAGGGAGTGACATCAGGGGCCGTCCACACCACCCT CCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0139 a0002c0004t0003g0139	1	382	0.0026	-207	c.808 others(15): Show c.808-598_808-392del		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	8/13						chr19	TogoVar
MMEL1_chr1_2585639_2638016	2592353	ACGCCCCC others(200): Show ACGCCCCCTCCCCTGCTGTGCTGGCACCCCCTCCCCTGCCGCGCTGATGC CCCCTCCCCTGATGCACTGGCGCCCCCTCCCCTGCCATGCTGACGCCCCC TCCCCTGCCGTGCTGGCGCCCCCTCCCCTGCCGCGCTGACGCCCCCTCCC CTGCCGCGCTGACGCCCCCTCCCCTGCCGCGCTGATGCCCCCTCCCCTGC CGTGCTGG	A A	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	342	0.0029	-207	c.206 others(16): Show c.2067+95_2067+301del		MMEL1	ENSG00000142606.16	transcript	ENST00000378412.8	protein_coding	21/23						chr1	TogoVar
MPPED1_chr22_43407014_43512848	43496558	AGTGGTGG others(200): Show AGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGG TAGTGGTGGTGGAGATGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTG GTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGG TGGTGATG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02055.hp1 HG02083.hp2 others(5): Show HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02258.hp2 HG02896.hp1 HG02897.hp2 NA18612.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0005t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0005g0176 others(5): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0005g0176 a0001c0001t0005g0226 a0001c0001t0006g0190 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0005t0001g0049	8	219	0.0365	-207	c.633 others(17): Show c.633-1664_633-1458del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MUSK_chr9_110663791_110811558	110701650	CTATTTAT others(200): Show CTATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01109.hp2 others(25): Show HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01175.hp2 HG01346.hp1 HG02280.hp1 HG02486.hp2 HG02896.hp2 HG02965.hp2 HG03195.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 NA18612.hp2 NA18939.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18960.hp1 NA18971.hp2 NA18975.hp1 NA18978.hp1 NA18993.hp2 NA19060.hp2 NA19064.hp1 NA19077.hp2 NA19082.hp1 NA19087.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0016 others(5): Show a0001c0001 a0001c0002 a0001c0016 a0002c0004 a0003c0003 a0004c0006 a0004c0024 a0008c0011	a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0016t0025 a0002c0004t0005 a0002c0004t0013 a0003c0003t0004 a0004c0006t0001 a0004c0006t0004 a0004c0024t0010 a0008c0011t0019	a0001c0001t0009g0174 a0001c0002t0001g0098 a0001c0002t0001g0117 others(25): Show a0001c0001t0009g0174 a0001c0002t0001g0098 a0001c0002t0001g0117 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0100 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0108 a0001c0002t0003g0126 a0001c0002t0008g0115 a0001c0016t0025g0182 a0002c0004t0005g0162 a0002c0004t0013g0008 a0003c0003t0004g0199 a0003c0003t0004g0200 a0004c0006t0001g0107 a0004c0006t0004g0063 a0004c0006t0004g0096 a0004c0006t0004g0099 a0004c0006t0004g0106 a0004c0006t0004g0124 a0004c0024t0010g0043 a0008c0011t0019g0127 a0008c0011t0019g0128	28	133	0.2105	-207	c.628 others(17): Show c.628+4190_628+4396del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYO1F_chr19_8515778_8582442	8543690	GTGGTGGT others(200): Show GTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGT GGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGG TGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGT GGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0129 a0001c0001t0018g0129	1	325	0.0031	-207	c.152 others(17): Show c.1524+400_1524+606del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
NFATC1_chr18_79390930_79534323	79483204	CTGGGGTG others(200): Show CTGGGGTGTAATTCCAGCGTGACCTGGTCCTGGGGTGTCACTCCAGCGTG ACCTGGTCCTGGGGCGTCACTCCAGCGTGACCTGGTCCTGGGGTGTCATT CCGGCGTGACCTGGTTCCTGGGGTGTCATTCCGGCATGACCTGGTTCCTG GGGTGTCATTCCGGCGTGACCTGGTTCCTGGGGTGTCATTCCGGCATGAC CTGGTTCG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01123.hp1 others(2): Show HG00733.hp2 HG00741.hp1 HG01123.hp1 HG01517.hp2 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0029 a0003c0007 a0001c0029 a0003c0007	a0001c0029t0004 a0003c0007t0001 a0003c0007t0002 others(1): Show a0001c0029t0004 a0003c0007t0001 a0003c0007t0002 a0003c0007t0008	a0001c0029t0004g0096 a0003c0007t0001g0206 a0003c0007t0002g0025 others(2): Show a0001c0029t0004g0096 a0003c0007t0001g0206 a0003c0007t0002g0025 a0003c0007t0008g0020 a0003c0007t0008g0031	5	320	0.0156	-207	c.209 others(19): Show c.2093-3035_2093-2829del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NXN_chr17_794310_984776	894023	TCCCTGGA others(200): Show TCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGC ATCTCAACTCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCA GAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCC CTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCAT CTCAAACG	T T	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19066.hp1 NA19012.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0090 a0001c0001t0004g0096 a0001c0001t0001g0090 a0001c0001t0004g0096	2	237	0.0084	-207	c.361 others(19): Show c.361-68152_361-67946del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OR7G2_chr19_9095407_9112475	9112268	GCATGCCT others(200): Show GCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCTCTT GAACCAGGGAGGCGGAAGTTGCAGTGAGCCTAGATTGCACCTTTGCACTC CTGCCCAGGTGACAGGCTCCATCTCAAAAACAAACAAAAAAACAAACAAC CAAAAAAACCACCAAAAAACACCAGAGTGGACTTCCCAATAGGAATTATA CTTTATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00738.hp2 others(30): Show HG00280.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01993.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG03942.hp1 NA18522.hp1 NA18940.hp1 NA19001.hp2 NA19064.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0007c0006	a0001c0001t0001 a0003c0003t0004 a0004c0004t0005 others(2): Show a0001c0001t0001 a0003c0003t0004 a0004c0004t0005 a0004c0004t0017 a0007c0006t0019	a0001c0001t0001g0004 a0003c0003t0004g0007 a0003c0003t0004g0015 others(6): Show a0001c0001t0001g0004 a0003c0003t0004g0007 a0003c0003t0004g0015 a0003c0003t0004g0026 a0003c0003t0004g0043 a0003c0003t0004g0044 a0004c0004t0005g0008 a0004c0004t0017g0080 a0007c0006t0019g0042	33	442	0.0747	-207	c.-51 others(11): Show c.-5178_-4972del		OR7G2	ENSG00000170923.4	transcript	ENST00000641081.1	protein_coding					4794		chr19	TogoVar

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