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
XYLT1_chr16_17096769_17475960	17143736	CCATCATC others(107): Show CCATCATCACAATTTCCATTATCACCACTGTCATCACCACCATCGTCATC ATCACCATCATCATCACAATTTCCATTATCACCACTGTCATCACCACCAT CGTCATCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0142 a0001c0001t0090g0142	1	75	0.0133	-114	c.137 others(19): Show c.1371-2481_1371-2368del	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	6/11			chr16	TogoVar
ZCWPW2_chr3_28343721_28531358	28380918	AATATATA others(107): Show AATATATATATATTTGGTATATATATATATATATATATATATATATATAT ATATTTGGTATATATATATATATATATATTTGGTATATATATATATATAT ATATTTGGTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0174 a0002c0002t0015g0174	1	252	0.0040	-114	c.-13 others(19): Show c.-133-9562_-133-9449del	ZCWPW2	ENSG00000206559.8	transcript	ENST00000383768.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ZDHHC4_chr7_6572454_6594374	6577111	CATAAAAT others(107): Show CATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATA AATAAAATAAAATAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG01109.hp2 others(25): Show HG00639.hp1 HG00673.hp2 HG01109.hp2 HG01243.hp2 HG02015.hp1 HG02055.hp1 HG02109.hp1 HG02451.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03669.hp1 HG03927.hp2 NA18522.hp1 NA18906.hp2 NA18953.hp2 NA18957.hp1 NA18992.hp2 NA19005.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0008 a0001c0001 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0005c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0055 a0001c0001t0001g0065 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0101 a0001c0001t0003g0012 a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0021 a0002c0002t0001g0068 a0002c0002t0001g0076 a0002c0002t0001g0086 a0002c0002t0001g0087 a0005c0008t0001g0001	28	160	0.1750	-114	c.-54 others(9): Show c.-549_-436del	ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding		342		chr7	TogoVar
ZNF276_chr16_89716537_89745925	89745489	TCTGAGCT others(107): Show TCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGA ACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGA AGGGACCACACTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA21309.hp1 HG02258.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0182 a0001c0001t0001g0162 a0001c0001t0001g0182	2	162	0.0123	-114	c.72 others(11): Show c.7244_*7357del	ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding		4565		chr16	TogoVar
ZNF365_chr10_62369369_62407450	62369791	TATATATA others(107): Show TATATATATGTCCCATATATATATATCTCATATATATGTCCCATATATAT ATATCTCATATATATGTCCCATATATATATATCTCATATATATGTCCCAT ATATATATATATCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02257.hp2 HG02818.hp1 others(3): Show HG01106.hp2 HG02257.hp2 HG02818.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	6	171	0.0351	-114	c.-46 others(11): Show c.-4680_-4567del	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370058	CATATATA others(107): Show CATATATATATATCTCATATATATGTCCCATATATATATATCTCATATAT ATGTCCCATATATATATATCTCATATATATGTCCCATATATATATATCTC ATATATATGTCCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01243.hp2 others(5): Show HG00597.hp2 HG00735.hp1 HG01243.hp2 HG01943.hp2 HG02293.hp2 HG02622.hp2 HG02723.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0034 a0002c0002t0007 a0001c0001t0002 a0001c0001t0034 a0002c0002t0007	a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0124 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0124 a0001c0001t0002g0147 a0001c0001t0034g0005 a0002c0002t0007g0008	8	333	0.0240	-114	c.-44 others(11): Show c.-4413_-4300del	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4310		chr10	TogoVar
ABCC9_chr12_21792389_21946426	21928337	AAGGGAAG others(106): Show AAGGGAAGAAAAAGAGAAAGAAAGAAAGAAAAAGAAAAAGAGAGAAAGAA AAGAGGAAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGAAAGAAAAAAAGA AAAGAAAAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp1 HG02559.hp2 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0039 a0002c0007t0001g0049 a0002c0007t0001g0039 a0002c0007t0001g0049	2	209	0.0096	-113	c.285 others(17): Show c.285-2387_285-2275del	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	4/39			chr12	TogoVar
ACYP2_chr2_53966113_54310300	54301164	TTTCTTCT others(106): Show TTTCTTCTGGCCATTCAAATGTTTTGCATTTTTTAAATTTGCTAACATTA CCAACATTTTTCCTGTGCTTCTTGGTTTTCTGTCAGGCTTAAATTGGCAT TTCCCATTCTAAGA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	270	0.0037	-113	c.405 others(17): Show c.405-3521_405-3409del	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADORA2B_chr17_15940130_15980746	15979799	CCCCCCCA others(106): Show CCCCCCCACCTCCCTCCCGGACGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGGGCTGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01257.hp2 HG01192.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0226 a0001c0001t0001g0043 a0001c0001t0001g0226	2	344	0.0058	-113	c.44 others(11): Show c.4458_*4570del	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		4054		chr17	TogoVar
AK5_chr1_77277019_77564966	77475370	AATATATA others(106): Show AATATATATTATATATATGTATATATATAATATATATGTATATATATACT ATATATTATATATATGTATATATATTATATATATACAAATATATATTATA TATGTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03579.hp1 HG02486.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0002 a0002c0002t0011	a0002c0002t0002g0020 a0002c0002t0011g0084 a0002c0002t0002g0020 a0002c0002t0011g0084	2	282	0.0071	-113	c.106 others(19): Show c.1060-7938_1060-7826del	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP17A_chrX_1586604_1607520	1596742	CCCTCCTA others(106): Show CCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCC CTCCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCAT CCCTCCTGCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01515.hp1 HG01891.hp2 others(10): Show HG00408.hp1 HG01515.hp1 HG01891.hp2 HG02273.hp1 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG06807.hp2 NA20129.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0003c0006 a0003c0016 a0005c0017	a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 a0001c0005t0001 a0003c0006t0003 a0003c0016t0003 a0005c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0037 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0072 a0001c0001t0001g0096 a0001c0001t0013g0076 a0001c0004t0001g0025 a0001c0005t0001g0051 a0001c0005t0001g0057 a0003c0006t0003g0081 a0003c0016t0003g0095 a0005c0017t0001g0015	13	149	0.0872	-113	c.911 others(17): Show c.911+1242_911+1354del	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1596774	CCTCTTCC others(106): Show CCTCTTCCTCCTCCATCCCTCCCGCTGTGCCCTCCTAGTGAGGCGGATTC GTCCTCTTCCTCCTCCATCCCTCCTGCCGTGTCCTCCTAGTGAGGTGGAT TCCTCCTCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG03195.hp2 others(2): Show HG02280.hp2 HG02486.hp1 HG03195.hp2 HG03486.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0014 a0002c0002t0005 a0002c0002t0014	a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064	5	149	0.0336	-113	c.911 others(17): Show c.911+1246_911+1358del	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALG6_chr1_63362627_63443553	63400207	ATATATAT others(106): Show ATATATATATATATACGTATATATATATATATATATACGTATATATATGT ATATATATATACGTATATATATATACGTATATATATATACGTATATATAT GTATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02027.hp2 HG04184.hp1 others(14): Show HG00423.hp1 HG02027.hp2 HG04184.hp1 NA18946.hp1 NA18950.hp1 NA18956.hp1 NA18962.hp2 NA18969.hp2 NA18985.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp2 NA19054.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0070 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0346 a0001c0001t0018g0009	17	263	0.0646	-113	c.168 others(17): Show c.168-2046_168-1934del	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14			chr1	TogoVar
ANKRD30B_chr18_14743172_14859667	14857282	TTCCCAGA others(106): Show TTCCCAGACGGGGCGGCTGGGCAGAGGCGCTCCTCACCTCCCAGATGAGG CGGCCTGGCAGAGGAACTCCTCACCTCCCAGATGATGGGCAGCTGGGCAA AGGCGCTCCTCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	314	0.0032	-113	c.31 others(11): Show c.3125_*3237del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		2616		chr18	TogoVar
ARHGEF10_chr8_1818926_1963641	1888222	CGAGGAGA others(106): Show CGAGGAGACAGTGAGTGTGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGC TGTAGGTTCTGAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGT GGGATGTTGACTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp1 others(44): Show HG00140.hp2 HG00408.hp2 HG00558.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01261.hp1 HG01361.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03239.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04228.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18970.hp1 NA19007.hp1 NA19030.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19080.hp1 NA19082.hp1 NA19088.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0009 a0012 a0018 a0021	a0001c0002 a0001c0009 a0001c0012 others(32): Show a0001c0002 a0001c0009 a0001c0012 a0001c0018 a0002c0017 a0002c0022 a0002c0024 a0002c0025 a0002c0027 a0002c0028 a0002c0030 a0002c0031 a0002c0032 a0002c0033 a0002c0034 a0002c0048 a0002c0058 a0002c0059 a0002c0073 a0002c0075 a0002c0076 a0002c0077 a0002c0108 a0002c0121 a0002c0124 a0002c0125 a0002c0127 a0002c0128 a0002c0149 a0002c0150 a0004c0051 a0009c0049 a0012c0130 a0018c0094 a0021c0126	a0001c0002t0026 a0001c0009t0059 a0001c0012t0001 others(37): Show a0001c0002t0026 a0001c0009t0059 a0001c0012t0001 a0001c0012t0063 a0001c0018t0028 a0002c0017t0002 a0002c0017t0005 a0002c0022t0001 a0002c0022t0006 a0002c0024t0001 a0002c0025t0015 a0002c0027t0004 a0002c0027t0005 a0002c0028t0001 a0002c0030t0002 a0002c0031t0001 a0002c0032t0004 a0002c0033t0001 a0002c0034t0003 a0002c0048t0002 a0002c0048t0057 a0002c0058t0006 a0002c0059t0002 a0002c0073t0001 a0002c0075t0004 a0002c0076t0030 a0002c0077t0001 a0002c0108t0003 a0002c0121t0015 a0002c0124t0015 a0002c0125t0054 a0002c0127t0001 a0002c0128t0001 a0002c0149t0047 a0002c0150t0001 a0004c0051t0005 a0009c0049t0005 a0012c0130t0061 a0018c0094t0016 a0021c0126t0007	a0001c0002t0026g0267 a0001c0009t0059g0298 a0001c0012t0001g0034 others(43): Show a0001c0002t0026g0267 a0001c0009t0059g0298 a0001c0012t0001g0034 a0001c0012t0063g0266 a0001c0018t0028g0108 a0002c0017t0002g0043 a0002c0017t0002g0044 a0002c0017t0002g0059 a0002c0017t0002g0214 a0002c0017t0005g0145 a0002c0022t0001g0211 a0002c0022t0001g0231 a0002c0022t0006g0124 a0002c0024t0001g0058 a0002c0024t0001g0148 a0002c0025t0015g0156 a0002c0027t0004g0295 a0002c0027t0005g0151 a0002c0028t0001g0280 a0002c0030t0002g0081 a0002c0031t0001g0182 a0002c0031t0001g0247 a0002c0032t0004g0314 a0002c0033t0001g0230 a0002c0034t0003g0077 a0002c0048t0002g0066 a0002c0048t0057g0155 a0002c0058t0006g0090 a0002c0059t0002g0255 a0002c0073t0001g0067 a0002c0075t0004g0299 a0002c0076t0030g0091 a0002c0077t0001g0035 a0002c0108t0003g0118 a0002c0121t0015g0154 a0002c0124t0015g0147 a0002c0125t0054g0306 a0002c0127t0001g0013 a0002c0128t0001g0061 a0002c0149t0047g0007 a0002c0150t0001g0008 a0004c0051t0005g0318 a0009c0049t0005g0001 a0012c0130t0061g0342 a0018c0094t0016g0146 a0021c0126t0007g0144	47	330	0.1424	-113	c.118 others(19): Show c.1182+2525_1182+2637del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112804020	GCCATCCC others(106): Show GCCATCCCCTCTCTGCCCTCCTTCCCTCCTTTTCCTCCTTCCCTCCTTCA CCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCT TCACCTCCCTCCCC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG02132.hp1 others(7): Show HG00408.hp2 HG00621.hp2 HG02132.hp1 HG02735.hp1 HG03017.hp1 HG04204.hp1 NA18612.hp1 NA18942.hp1 NA18973.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 a0001c0002 a0001c0005 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0005t0009 a0001c0005t0017 a0001c0005t0063 a0002c0003t0001 a0002c0003t0002	a0001c0002t0001g0019 a0001c0002t0001g0167 a0001c0002t0002g0089 others(7): Show a0001c0002t0001g0019 a0001c0002t0001g0167 a0001c0002t0002g0089 a0001c0002t0007g0237 a0001c0005t0009g0174 a0001c0005t0017g0080 a0001c0005t0017g0100 a0001c0005t0063g0130 a0002c0003t0001g0059 a0002c0003t0002g0027	10	154	0.0649	-113	c.163 others(15): Show c.163-906_163-794del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804243	GCCCTCCT others(106): Show GCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCC TTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCGTTC	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0191	1	156	0.0064	-113	c.163 others(15): Show c.163-621_163-509del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112861751	ACATCTTT others(106): Show ACATCTTTAATAAATCTAAAGAAAATGGGAATAAATCTAAGAAAATGGGA GAAGATATACTGTTCTAGACATGTGTCTGAAAGGAATCCTGCAAATTCTG TCTTATTGAACAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02280.hp1 others(3): Show HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02647.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0017 a0001c0002 a0001c0013 a0001c0017	a0001c0002t0004 a0001c0002t0041 a0001c0013t0004 others(1): Show a0001c0002t0004 a0001c0002t0041 a0001c0013t0004 a0001c0017t0060	a0001c0002t0004g0041 a0001c0002t0041g0212 a0001c0013t0004g0035 others(3): Show a0001c0002t0004g0041 a0001c0002t0041g0212 a0001c0013t0004g0035 a0001c0013t0004g0084 a0001c0013t0004g0085 a0001c0017t0060g0053	6	252	0.0238	-113	c.285 others(17): Show c.2856-572_2856-460del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25425470	TTTTTTTT others(106): Show TTTTTTTTTTTGAGATGGAGTCTCGCTCTAGTACTGGATCTCTAGTACTT GCAAGACGTCATAAATTTGAAATCATACAGTATGCAGCCTTTTCAGATTG GCTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0094 a0001c0007t0007g0094	1	120	0.0083	-113	c.77- others(17): Show c.77-43497_77-43385del	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
CAMK2B_chr7_44212154_44330594	44226937	CGTGGGGG others(106): Show CGTGGGGGACAGAGGGGCATGTGGGGGGACAAAGTGGGGGTGTAGGGGAT GGGGGGCATGAGGGGACCAAGGTGGGTGTGGGGGACAGAGGGGGGTGTGG AAGACAGAGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0211 a0001c0004t0001g0211	1	234	0.0043	-113	c.146 others(17): Show c.1469-406_1469-294del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CBLC_chr19_44772890_44805652	44781762	CTGGGTCT others(106): Show CTGGGTCTGAGGGAGGAGGGGGCTGGAGACCTGGACTCCAGGGTCTGAGG GAGGAGGGGGTGAGGGCCCGGACTCCAGGGTTTGAGGGAGGAGAGGGCGG GGGGCCTGGACTCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0067 a0001c0009t0002g0067	1	341	0.0029	-113	c.657 others(15): Show c.657+419_658-476del	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC85C_chr14_99495190_99609207	99577730	CATCCCCC others(106): Show CATCCCCCATCAGTGTGTGTGTGTACACATCTCCACACCCATACAGCCCG TCCTGTATCCCCCATCAGTGTGTGTGTGTGTGTGTACACATCACACCCAT ACAGCCCGTCCTGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0038 a0002c0013t0038	a0002c0013t0038g0292 a0002c0013t0038g0292	1	298	0.0034	-113	c.793 others(19): Show c.793+25324_793+25436del	CCDC85C	ENSG00000205476.9	transcript	ENST00000380243.9	protein_coding	1/5			chr14	TogoVar
CCKAR_chr4_26476396_26495484	26492485	TCTTTCCT others(106): Show TCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTTTTCTTTCTTTCTCTCT TTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0121 a0001c0016t0003g0121	1	452	0.0022	-113	c.-23 others(11): Show c.-2331_-2219del	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		2002		chr4	TogoVar
CD99L2_chrX_150761336_150903668	150769674	TGCCTGCG others(106): Show TGCCTGCGCCACCAGGCCTCGGCTGCTCCCCGACCCCAGCAAGCCTTTCC GGACCTCCTCATTGGCATCCCGTGGGCACAGGTCATATCTGCCTCGAGCA GTTGGGCACTCTAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00735.hp1 others(19): Show HG00408.hp1 HG00642.hp1 HG00735.hp1 HG01074.hp1 HG01192.hp1 HG01258.hp1 HG01928.hp1 HG01943.hp1 HG02074.hp1 HG02135.hp1 HG02300.hp1 HG03492.hp1 NA18940.hp1 NA18945.hp1 NA18960.hp1 NA18969.hp1 NA18969.hp2 NA18994.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0150 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0150 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0064 a0001c0001t0002g0081 a0001c0001t0002g0103 a0001c0001t0002g0128 a0001c0001t0003g0083 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0112 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0171 a0001c0001t0004g0012 a0001c0001t0004g0089 a0001c0001t0018g0101 a0001c0001t0018g0102	22	209	0.1053	-113	c.721 others(15): Show c.721+517_722-574del	CD99L2	ENSG00000102181.22	transcript	ENST00000370377.8	protein_coding	10/10			chrX	TogoVar
CMTM3_chr16_66599704_66618887	66605428	TGAGGCGG others(106): Show TGAGGCGGCCCCGCGGTGACTTCATCGCCCTCCTCCCCTCCGCGGCCGGG CTCCTTCCTACTCCGCCCTCGCCCCCACCCCGGCCGGTGGGGCTTCTTTG TCCTCTGGACACCG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	424	0.0024	-113	c.147 others(15): Show c.147+483_147+595del	CMTM3	ENSG00000140931.20	transcript	ENST00000567572.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPD_chr17_30373927_30474989	30450117	CATGATCT others(106): Show CATGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTATC CCGCCTCAGCTTCCTGAGTAGCTGGGACTACAGATGCCCACCACCATGCC CGGCTAATTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG03139.hp1 others(2): Show HG02622.hp1 HG02647.hp1 HG03139.hp1 NA18522.hp1 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0008 a0001c0001t0014 a0011c0011t0008 a0001c0001t0008 a0001c0001t0014 a0011c0011t0008	a0001c0001t0008g0005 a0001c0001t0008g0016 a0001c0001t0014g0017 others(1): Show a0001c0001t0008g0005 a0001c0001t0008g0016 a0001c0001t0014g0017 a0011c0011t0008g0018	5	294	0.0170	-113	c.306 others(17): Show c.3069+372_3069+484del	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
CPNE7_chr16_89570758_89602246	89587811	CCCGTGTC others(106): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0304 a0002c0004t0002g0304	1	339	0.0029	-113	c.927 others(15): Show c.927+711_928-750del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSF2RA_chrX_1263814_1314935	1314413	CGTACTGC others(106): Show CGTACTGCACCTGCCCAACCGCACTGCACTTGCCCAATTGCACTGCACCT GCCCAACCCCAATGCACCTACCCAACCCCACTGTGCCTGCCCAACCGCAC TGCACCTGCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0092 a0001c0005t0010g0092	1	157	0.0064	-113	c.49 others(11): Show c.4935_*5047del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4479		chrX	TogoVar
CYTH2_chr19_48464369_48487314	48479800	GGAAGAAC others(106): Show GGAAGAACATGCGACCACCTCAGGGAGGGTCAGGGAAGGATGAGTGGGGA GGTGGCCCATGTCCTGCAAGGGCCTTGCTGATGGGATGTCCTGAAGGGCT GGGCAGCCTTAGAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01168.hp2 others(3): Show HG00639.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp2 HG04115.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	6	364	0.0165	-113	c.59 others(9): Show c.591_*703del	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	12/12	591		chr19	TogoVar
DHRS12_chr13_51762993_51809163	51775966	AGTATTCT others(106): Show AGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTAC ATGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACA GTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG02145.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0130 a0001c0001t0001g0131	2	413	0.0048	-113	c.363 others(16): Show c.363+981_363+1093del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1419209	TGTGTGTG others(106): Show TGTGTGTGTGTGTGTGTGTGTGTGTAGGTTTTGTTTTCCTTTTATAAATG GTTATTTTTGGTTGACTCACAGTAATTGTACATATTTGTGGGATACTATG TTACACTCTGATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0029 a0002c0001t0005g0029	1	40	0.0250	-113	c.107 others(19): Show c.107-82132_107-82020del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33190865	ATATATAT others(106): Show ATATATATATATATAATATATAATATTATATATTATATAATATATAATAT TATATATATAATATTATATATATATATAATATATAATATTATATATATAT ATAATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02015.hp1 HG02071.hp1 others(21): Show HG01106.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp1 HG02257.hp1 HG02293.hp1 HG02572.hp1 HG02602.hp1 HG02723.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 NA18959.hp1 NA18966.hp1 NA19012.hp1 NA19043.hp1 NA19060.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012 a0014 a0015 a0016 a0022 a0026	a0001c0001 a0001c0002 a0001c0053 others(16): Show a0001c0001 a0001c0002 a0001c0053 a0002c0013 a0002c0025 a0003c0003 a0003c0008 a0004c0004 a0005c0022 a0005c0052 a0005c0056 a0006c0006 a0009c0015 a0012c0033 a0014c0029 a0015c0017 a0016c0041 a0022c0057 a0026c0024	a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 others(18): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 a0001c0053t0001 a0002c0013t0002 a0002c0025t0008 a0003c0003t0001 a0003c0008t0003 a0004c0004t0001 a0005c0022t0016 a0005c0052t0006 a0005c0056t0001 a0006c0006t0001 a0009c0015t0001 a0012c0033t0001 a0014c0029t0001 a0015c0017t0001 a0016c0041t0001 a0022c0057t0015 a0026c0024t0008	a0001c0001t0006g0097 a0001c0002t0001g0100 a0001c0002t0001g0101 others(21): Show a0001c0001t0006g0097 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0114 a0001c0002t0004g0110 a0001c0002t0010g0093 a0001c0053t0001g0096 a0002c0013t0002g0094 a0002c0025t0008g0108 a0003c0003t0001g0022 a0003c0008t0003g0116 a0004c0004t0001g0002 a0005c0022t0016g0107 a0005c0052t0006g0099 a0005c0056t0001g0103 a0006c0006t0001g0106 a0009c0015t0001g0098 a0012c0033t0001g0102 a0014c0029t0001g0092 a0015c0017t0001g0104 a0015c0017t0001g0111 a0016c0041t0001g0109 a0022c0057t0015g0115 a0026c0024t0008g0105	24	126	0.1905	-113	c.31+ others(17): Show c.31+20304_31+20416del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DNAH9_chr17_11593470_11974748	11711900	ATATATTT others(106): Show ATATATTTGTATATATATTTATATATAAATATATATATTTGTATATATAT TTATATATAAATATATATATTTGTATATATATTTATATATAAATATATAT ATTTGTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02559.hp1 HG03098.hp1 others(1): Show HG01934.hp1 HG02559.hp1 HG03098.hp1 HG03579.hp2	a0005 a0009 a0040 others(1): Show a0005 a0009 a0040 a0067	a0005c0131 a0009c0081 a0040c0019 others(1): Show a0005c0131 a0009c0081 a0040c0019 a0067c0039	a0005c0131t0001 a0009c0081t0001 a0040c0019t0001 others(1): Show a0005c0131t0001 a0009c0081t0001 a0040c0019t0001 a0067c0039t0001	a0005c0131t0001g0177 a0009c0081t0001g0043 a0040c0019t0001g0001 others(1): Show a0005c0131t0001g0177 a0009c0081t0001g0043 a0040c0019t0001g0001 a0067c0039t0001g0017	4	171	0.0234	-113	c.555 others(19): Show c.5552+6717_5552+6829del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	26/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAJB6_chr7_157332004_157422439	157411209	GCTCCCCA others(106): Show GCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGACTCCCCACGGT TCCCTGCACTGAGCGGGCGTGGGGAAGGTTCCCAGGATCCCTGCACTGAG CGGGGTGGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG03942.hp2 HG00642.hp2 HG01169.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0002g0096 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0002g0096	3	365	0.0082	-113	c.898 others(17): Show c.898+1237_898+1349del	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPEP1_chr16_89608642_89643433	89634779	CTCCTTTC others(106): Show CTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01361.hp1 HG01993.hp1 HG01167.hp2 HG01361.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236	3	207	0.0145	-113	c.105 others(17): Show c.105-1128_105-1016del	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPRX_chr19_53626999_53642014	53638185	TCATATAC others(106): Show TCATATACTGGTCTCAAAATAAATAAATAGATTAAAATTTAAACATAAAA TAAACATGAGTGTGTTAGAAAGAACCTACTGGCCCGGCGTGGTGGCTCAC ACCTGTAATCCCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	476	0.0021	-113	c.11 others(11): Show c.1198_*1310del	DPRX	ENSG00000204595.3	transcript	ENST00000376650.2	protein_coding		1172		chr19	TogoVar
DYNLT2B_chr3_196286219_196323240	196317109	CCTGAGTA others(106): Show CCTGAGTACCCTCTGCTCTGGCCCGTGAGCCTGACATTTTTTTTCAGTGT GTGTGTGTGTGTGTGTGTGTGTGTTGTGTGTGTGTGTGTAAAGTTAGTGA TCTTACAAACCTAG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	322	0.0031	-113	c.113 others(15): Show c.113+818_114-879del	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128330832	CCCCCCTT others(106): Show CCCCCCTTCCTCAGTGCATCTCCCCTCTTCCCCATTCCTCAGTGCATCTC CCCTCTTCCCCCTTCCTCAGTGCATCTCCCCTCTTCCCCCCTTCCTCAGT GCATCTCCCCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp2 HG01255.hp1 others(27): Show HG00733.hp2 HG01243.hp2 HG01255.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03669.hp2 HG03831.hp2 HG04204.hp1 HG06807.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0008 others(1): Show a0001c0002 a0001c0006 a0001c0008 a0002c0007	a0001c0002t0001 a0001c0006t0001 a0001c0008t0001 others(1): Show a0001c0002t0001 a0001c0006t0001 a0001c0008t0001 a0002c0007t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(27): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0006t0001g0222 a0001c0006t0001g0235 a0001c0008t0001g0014 a0001c0008t0001g0015 a0002c0007t0001g0018 a0002c0007t0001g0022	30	267	0.1124	-113	c.787 others(19): Show c.787-10368_787-10256del	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERFL_chr19_41902704_41933449	41914569	GTCTCCGT others(106): Show GTCTCCGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTC CACCATCTCTGTCTCTGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTC CCTCCCCTTCCACC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG03471.hp1 HG01891.hp1 HG02258.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0040 a0001c0002t0002g0032 a0001c0002t0002g0040	3	311	0.0096	-113	c.-13 others(17): Show c.-13-1750_-13-1638del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ESYT2_chr7_158725997_158834509	158729298	AGAGCAAG others(106): Show AGAGCAAGCGTGGAGGTGTTGGGAGAAGCAAGTGTGGATGTGCAAGCGTG GAGGTGGGGGGCTTGGCGCAAGCGTGGAGGTGCTGGGGGGAGGAGCAAGG TGGAGGTTGGGACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02572.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02572.hp1 HG02723.hp1 HG03225.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0011 a0002c0002t0001 a0002c0002t0018 a0001c0006t0011 a0002c0002t0001 a0002c0002t0018	a0001c0006t0011g0222 a0001c0006t0011g0223 a0001c0006t0011g0225 others(3): Show a0001c0006t0011g0222 a0001c0006t0011g0223 a0001c0006t0011g0225 a0002c0002t0001g0134 a0002c0002t0018g0132 a0002c0002t0018g0133	6	365	0.0164	-113	c.47 others(11): Show c.4796_*4908del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1698		chr7	TogoVar
FER1L6_chr8_123846987_124125061	124094192	GGGCCACC others(106): Show GGGCCACCCTGATTTTCCAGGTCCTCTCACAGTATGTTAGCAAACAGTTT TGCACCTTCAAAAATGTACCCTCTCCAGTACCTTGAAGCCATGTTTATGA TCTGTAGATCTTTA	G G	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	194	0.0052	-113	c.455 others(17): Show c.4553-701_4553-589del	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	34/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FGD6_chr12_95071749_95222467	95148999	TATATATA others(106): Show TATATATATTATATAAGATATAGCATATATTATATATATTATATAAGATA TAGCATATATTATATATATTATATAAGATATAGCATATATTATATATATT ATATAAGATATAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01169.hp1 others(12): Show HG00099.hp2 HG00639.hp1 HG01169.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG02155.hp1 HG02572.hp1 HG02622.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG04204.hp2 NA20129.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0005 a0001c0001t0042 a0001c0001t0059 others(3): Show a0001c0001t0005 a0001c0001t0042 a0001c0001t0059 a0001c0001t0060 a0005c0015t0005 a0005c0015t0062	a0001c0001t0005g0281 a0001c0001t0005g0291 a0001c0001t0005g0293 others(12): Show a0001c0001t0005g0281 a0001c0001t0005g0291 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0298 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0313 a0001c0001t0042g0021 a0001c0001t0059g0309 a0001c0001t0060g0296 a0005c0015t0005g0290 a0005c0015t0062g0289	15	376	0.0399	-113	c.268 others(19): Show c.2685+3699_2685+3811del	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241807299	CTCCCGCC others(106): Show CTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACC CGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02148.hp2 HG02809.hp1 others(2): Show HG01106.hp1 HG02148.hp2 HG02809.hp1 HG03017.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0178 a0001c0001t0002g0155 a0003c0003t0001g0064	5	310	0.0161	-113	c.31 others(11): Show c.3134_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3013		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807335	TCCCTCCC others(106): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	310	0.0032	-113	c.31 others(11): Show c.3170_*3282del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3049		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807693	TCCCTCCC others(106): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	312	0.0032	-113	c.35 others(11): Show c.3528_*3640del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3407		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807729	CCTTCCCT others(106): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	312	0.0032	-113	c.35 others(11): Show c.3564_*3676del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3443		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807962	CGCAGGCC others(106): Show CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTA GCCCAGGGACCTCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	197	0.0051	-113	c.37 others(11): Show c.3797_*3909del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3676		chr2	TogoVar
GAS6_chr13_113815549_113869076	113831824	CCCCGTCC others(106): Show CCCCGTCCCCCGGAGCATGAACTAAACGGGGCAGGGGTCCCCGTCCCCCG GAGCATGAACTAAACGGGGCAGGGGTCCCCGTCCCCCGGAGCATGAACTA AACGGGGCAGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	142	0.0070	-113	c.114 others(17): Show c.1143+362_1143+474del	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GPLD1_chr6_24420832_24494578	24491994	GCATATGG others(106): Show GCATATGGAAATATTTTTCTTTCTGCCCCACACCCCCCTTTCCTAATATA GGTGGCTTTGTTATAAACAAGACAGCATGATTCTACCATTTAGAACTCTT CTGGAAATAGAGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0049 a0007c0049	a0007c0049t0046 a0007c0049t0046	a0007c0049t0046g0106 a0007c0049t0046g0106	1	356	0.0028	-113	c.-25 others(11): Show c.-2596_-2484del	GPLD1	ENSG00000112293.15	transcript	ENST00000230036.2	protein_coding		2417		chr6	TogoVar
GPR157_chr1_9095305_9134102	9123243	AATTTAAA others(106): Show AATTTAAATATATATTTAAATATATATATTTAAATATATATTTAAATTAA TATATATTTAATTTAAATATATATTAAAATATATATATTTAATTTAAATA TATATATTTAATTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp2 others(58): Show HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG01099.hp1 HG01261.hp2 HG01884.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG03239.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18945.hp1 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18965.hp2 NA18969.hp2 NA18974.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19059.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp2 NA19077.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0014 a0008c0020 others(1): Show a0001c0001 a0001c0014 a0008c0020 a0009c0019	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(13): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0044 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0068 a0001c0014t0005 a0008c0020t0017 a0009c0019t0005	a0001c0001t0005g0008 a0001c0001t0005g0026 a0001c0001t0005g0027 others(44): Show a0001c0001t0005g0008 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0062 a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0131 a0001c0001t0005g0135 a0001c0001t0005g0137 a0001c0001t0005g0141 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0238 a0001c0001t0006g0127 a0001c0001t0006g0158 a0001c0001t0007g0007 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0119 a0001c0001t0007g0132 a0001c0001t0007g0142 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0167 a0001c0001t0009g0016 a0001c0001t0009g0128 a0001c0001t0009g0136 a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0009g0165 a0001c0001t0017g0025 a0001c0001t0017g0148 a0001c0001t0030g0024 a0001c0001t0031g0122 a0001c0001t0031g0162 a0001c0001t0032g0116 a0001c0001t0032g0123 a0001c0001t0044g0121 a0001c0001t0055g0120 a0001c0001t0056g0140 a0001c0001t0060g0130 a0001c0001t0068g0124 a0001c0014t0005g0039 a0008c0020t0017g0249 a0009c0019t0005g0147	61	225	0.2711	-113	c.383 others(17): Show c.383+5289_383+5401del	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar

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