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
USP40_chr2_233470526_233571782	233567690	CTATATAA others(199): Show CTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03704.hp2 HG06807.hp1 others(2): Show HG02818.hp2 HG03704.hp2 HG06807.hp1 NA19086.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0004c0004t0008 a0001c0001t0001 a0004c0004t0003 a0004c0004t0008	a0001c0001t0001g0090 a0001c0001t0001g0093 a0004c0004t0003g0047 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0093 a0004c0004t0003g0047 a0004c0004t0003g0051 a0004c0004t0008g0069	5	235	0.0213	-206	c.-12 others(11): Show c.-1232_-1027del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		909		chr2	TogoVar
VSTM5_chr11_93813232_93855618	93844840	TGCTACCC others(199): Show TGCTACCCCAGCTCTTGGCAAGCTGTTCCAGGCACAGTGCGTGCTCAGGA ACCATTTATTGAGCCAAACCAGACTTCCCAGCAAAGCAGCCTTGTCTTCT GCCCTCAGCCTTGTGGGAAAGTATTTTCAGGCTTGTCAGGATAAAACCAC AAAGACACAGGTGAGACTCTAAGACACAACGTTGGGTGTTCTGAGAACAG CAGGAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(143): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18959.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0004c0005t0001 a0005c0006t0002 a0005c0006t0003	a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0029 others(98): Show a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0001 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0109 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0094 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0125 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0004g0086 a0001c0001t0004g0097 a0001c0001t0004g0102 a0001c0001t0004g0113 a0001c0001t0004g0117 a0001c0001t0004g0144 a0001c0001t0004g0149 a0001c0001t0005g0033 a0001c0001t0005g0106 a0001c0001t0005g0129 a0001c0001t0005g0132 a0001c0001t0005g0135 a0001c0001t0005g0138 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0145 a0001c0001t0007g0035 a0001c0001t0008g0003 a0001c0001t0008g0099 a0001c0001t0008g0118 a0001c0001t0009g0131 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0142 a0001c0001t0011g0013 a0001c0001t0012g0223 a0001c0001t0014g0087 a0001c0001t0014g0128 a0001c0001t0014g0247 a0001c0001t0023g0122 a0001c0001t0024g0146 a0001c0001t0025g0153 a0001c0001t0027g0116 a0001c0001t0028g0123 a0001c0001t0031g0115 a0001c0001t0032g0090 a0001c0001t0039g0081 a0001c0001t0040g0108 a0001c0001t0043g0111 a0002c0002t0001g0045 a0002c0002t0002g0044 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0265 a0002c0002t0003g0264 a0002c0002t0014g0263 a0004c0005t0001g0028 a0005c0006t0002g0110 a0005c0006t0003g0130	146	358	0.4078	-206	c.91+ others(15): Show c.91+5366_91+5571del	VSTM5	ENSG00000214376.6	transcript	ENST00000409977.2	protein_coding	1/3			chr11	TogoVar
WFIKKN1_chr16_625985_639117	631835	GCCTCTCC others(199): Show GCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCAT CCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCAC TCCTCCCATCCACTTTTTCCATCCTCTTCTCTCACCCCGTCATTGCCTCT CCTTCCATCCTCTCCTCCCATCCACTTCTCCCACCCCTTCACTGCCTCTC CTCCCAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	401	0.0025	-206	c.171 others(15): Show c.171+420_172-533del	WFIKKN1	ENSG00000127578.7	transcript	ENST00000319070.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF516_chr18_76352682_76500242	76394512	GGGGGGAG others(199): Show GGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGT	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0025 a0001c0001t0022g0025	1	342	0.0029	-206	c.181 others(21): Show c.1811-14415_1811-14210del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AKT1_chr14_104764349_104800748	104800543	CTGGGCCA others(198): Show CTGGGCCAGCCAAGTTGGAGCGCGCCCCGCCCGGCGCCCTCGCCGTCCCC GCGCCCTCCCCGCCGGGGCGCGCTGCCCGCAGCTCCACGCGCGCCAGGGC CGCCCTGGGGAGGGCGCGCGCGCGAGCGGCGACCGGAGAGGAGCTCGGGG CGGCGGAGGTGAGCGCTGGGGGTGGGCTCCCGGCTCTGCCCGCCCCGCCC GCCCGC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	384	0.0026	-205	c.-55 others(11): Show c.-5522_-5318del	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding		4796		chr14	TogoVar
ALDH1A3_chr15_100874831_100921626	100909068	ACCCTCCA others(198): Show ACCCTCCACGCGTGCATGTAAACCCACTGCAAACCCCTCCGTGCGTGTGC AAACCCACTGCAAACCCCTCCACATGTGTGTGCAAACTCCTCAGTGTGTG AACCCACTGCAAACTCCTCCGTGTGTGTAAACCCACTGCAAACCCTCCAC GTGTGCATGTAAACCCACTGCAAACCCCTCCGTGTGTGTGCAAACCCACT GCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 NA19043.hp2 HG02818.hp2 HG02976.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0038 a0002c0002t0019 a0002c0002t0038	a0002c0002t0019g0030 a0002c0002t0038g0200 a0002c0002t0019g0030 a0002c0002t0038g0200	3	412	0.0073	-205	c.146 others(17): Show c.1466+595_1466+799del	ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANO3_chr11_26327130_26668289	26529120	ATATTATA others(198): Show ATATTATATATAATATATATTATATAATAATATATATTATATATAATATA TATTATTAATAATATATATTATATATAATTATATAATATATATTATATAA TATAATATATAATATATATTATATAATATATATTATATAATATATATTAT ATATTATATAATATATAATATATATTATATAATATATATTATATAATATA TAATAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01070.hp1 HG01168.hp2 others(27): Show HG00597.hp1 HG01070.hp1 HG01168.hp2 HG01243.hp2 HG02027.hp1 HG02040.hp2 HG02083.hp1 HG02300.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18955.hp2 NA18963.hp2 NA19065.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0003t0002 a0001c0003t0007 others(11): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0007 a0001c0004t0004 a0001c0005t0006 a0001c0005t0010 a0001c0006t0010 a0001c0006t0012 a0001c0006t0013 a0001c0007t0001 a0001c0009t0004 a0001c0009t0019 a0001c0010t0001 a0001c0011t0002	a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0003t0002g0044 others(27): Show a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0055 a0001c0003t0002g0159 a0001c0003t0002g0174 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0007g0183 a0001c0004t0004g0177 a0001c0005t0006g0085 a0001c0005t0006g0144 a0001c0005t0006g0155 a0001c0005t0010g0008 a0001c0005t0010g0081 a0001c0006t0010g0073 a0001c0006t0012g0027 a0001c0006t0013g0012 a0001c0006t0013g0013 a0001c0007t0001g0026 a0001c0007t0001g0078 a0001c0007t0001g0131 a0001c0009t0004g0038 a0001c0009t0004g0087 a0001c0009t0004g0167 a0001c0009t0019g0127 a0001c0010t0001g0110 a0001c0011t0002g0076	30	188	0.1596	-205	c.738 others(17): Show c.738-2081_738-1877del	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144634121	TGGCGCAT others(198): Show TGGCGCATTCTCCACTCCAGTCTAGAACTCCAGGCCTCTGCAGGCGCAGT CTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCC TGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAA CTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCC TCTGCA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0017	1	242	0.0041	-205	c.-81 others(19): Show c.-81-28631_-81-28427del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144634144	AGAACTCC others(198): Show AGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCA GGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGC AGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGT CTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCC TGTCTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02280.hp1 others(7): Show HG01891.hp1 HG02258.hp1 HG02280.hp1 HG02683.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03453.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0021 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0188 a0001c0001t0003g0058 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0188 a0001c0001t0003g0058 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0018g0019 a0001c0001t0021g0057 a0001c0002t0001g0097 a0001c0007t0001g0016	10	100	0.1000	-205	c.-81 others(19): Show c.-81-28654_-81-28450del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1954944	TGGATAGC others(198): Show TGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTG GAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTTTCT GGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCT CTGGAGGATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCC TCTGGA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp2 HG02572.hp2 HG01934.hp1 HG02109.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0041 a0001c0005 a0001c0041	a0001c0005t0001 a0001c0005t0008 a0001c0041t0007 a0001c0005t0001 a0001c0005t0008 a0001c0041t0007	a0001c0005t0001g0337 a0001c0005t0008g0355 a0001c0041t0007g0158 a0001c0005t0001g0337 a0001c0005t0008g0355 a0001c0041t0007g0158	3	343	0.0087	-205	c.352 others(19): Show c.3521-1761_3521-1557del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049692	GGGGAACA others(198): Show GGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACAC ATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGC AGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAA TACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGG GGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	299	0.0033	-205	c.48 others(11): Show c.4834_*5038del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2411		chr8	TogoVar
CADM2_chr3_84953989_86079429	85768987	CATATATA others(198): Show CATATATACATATATAGTATATATACACATATATACATATATAGTATATA TACACATATATACATATATAGTATATATACACATATATACATATATAGTA TATATACACATATATACATATATGTATATATACACATATATACATATATA GTATATATACACATATATACATATATAGTATATATACACATATATACATA TATAGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02615.hp2 NA18995.hp2 HG00423.hp2 HG02615.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0065 a0001c0001t0001g0088 a0001c0001t0001g0031 a0001c0001t0001g0065 a0001c0001t0001g0088	3	144	0.0208	-205	c.89- others(17): Show c.89-33050_89-32846del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	236689	TTCTGTGG others(198): Show TTCTGTGGCCCTTAACATTTTATTTCAGTCTATCTATTCTTTGTATTCAT CTTTCCACACTAAAGATTTCTAATGTTTCTAATCTTCCTCTGTGTGAATC CCATGGCCCCAGCCTCTTAAATAATGTAGTGCCTTTCTCTGTACCTCCTT CAGTCCCATTATTAGAGAGTTTTTAAAAAATAATCATAGACTTTTAGGGC AAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02280.hp1 others(8): Show HG01243.hp2 HG01891.hp2 HG02280.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02965.hp2 HG03139.hp2 HG03540.hp2 HG06807.hp1 NA20129.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0007 a0008 a0012 a0015	a0001c0001 a0002c0002 a0004c0004 others(5): Show a0001c0001 a0002c0002 a0004c0004 a0007c0008 a0007c0024 a0008c0007 a0012c0011 a0015c0014	a0001c0001t0006 a0001c0001t0016 a0002c0002t0002 others(8): Show a0001c0001t0006 a0001c0001t0016 a0002c0002t0002 a0002c0002t0004 a0004c0004t0030 a0007c0008t0012 a0007c0024t0013 a0008c0007t0001 a0008c0007t0012 a0012c0011t0002 a0015c0014t0053	a0001c0001t0006g0097 a0001c0001t0016g0100 a0002c0002t0002g0095 others(8): Show a0001c0001t0006g0097 a0001c0001t0016g0100 a0002c0002t0002g0095 a0002c0002t0004g0290 a0004c0004t0030g0099 a0007c0008t0012g0094 a0007c0024t0013g0037 a0008c0007t0001g0289 a0008c0007t0012g0101 a0012c0011t0002g0098 a0015c0014t0053g0042	11	288	0.0382	-205	c.-17 others(19): Show c.-174-7923_-174-7719del	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27			chr3	TogoVar
COL18A1_chr21_45400165_45518720	45437114	CACACACA others(198): Show CACACACAGACACACAGGCACTCTCCACACACACTCACACTCAGACACAG GCACTCTCCTGCACACACACTCACACAGACACACAGGCACTCTCCTGCAC ACACACACACAGACACACAGGCACTCTCCTGTACACACACACACTCACAC ACTCAGACACACAGGCACTCTCCTGCACACACACACACTCACACAGGCAC TCTCCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0032 a0032	a0032c0092 a0032c0092	a0032c0092t0001 a0032c0092t0001	a0032c0092t0001g0124 a0032c0092t0001g0124	1	290	0.0034	-205	c.107 others(19): Show c.107-31127_107-30923del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41			chr21	TogoVar
CSF2RA_chrX_1263814_1314935	1307715	TACCTTCG others(198): Show TACCTTCGACTGATTAGATGAGGCCCGTCCTTCCCCCATTTAGATCTTCA ACTGATTAGATGAGGCCCACCTTTCCCTTTTTAGACCTTTGACTGATTAG ATGAGGCCTACCCTTCTCCCTTTAGACCTTTGACTGATTAGATGAGGCCT ACCCTTCTCCCTTTAGACCTTTGACTGATTAGATGAGACCCACCCTTCCC ATTTAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG01175.hp2 others(19): Show HG00140.hp1 HG00423.hp2 HG01175.hp2 HG01358.hp1 HG01496.hp2 HG01981.hp1 HG02273.hp1 HG03239.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA18954.hp2 NA18961.hp1 NA18975.hp2 NA18984.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19063.hp1 NA19082.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0011 a0001c0001 a0001c0002 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0004 a0002c0011t0004	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0066 others(19): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0066 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0051 a0001c0001t0002g0118 a0001c0001t0003g0060 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0134 a0001c0001t0003g0149 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0091 a0001c0001t0008g0121 a0001c0002t0004g0063 a0002c0011t0004g0074	22	157	0.1401	-205	c.112 others(19): Show c.1126-1680_1126-1476del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CXCL2_chr4_74092040_74104195	74103107	ACCAAACA others(198): Show ACCAAACAGACATGTAGAAGTGATGACAACTAGTAGCCTCCAGAGTCCCA GCAGCCCAGAGAATCTCCTGCTTATTGTGCCGTCAGCCCCCAAATTCATT CCATGAAGTTCCCAGCAACTCCCAACACCATATCAGAATCTGATATTATG ATTGAAGGCAGGCTGGGAGTGGTGTCTCACACCTGTAATTCCAGCACTCT GGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03486.hp2 HG02895.hp1 HG02897.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	396	0.0076	-205	c.-41 others(11): Show c.-4192_-3988del	CXCL2	ENSG00000081041.9	transcript	ENST00000508487.3	protein_coding		3913		chr4	TogoVar
DDX27_chr20_49214416_49249073	49222420	CTGCCTCA others(198): Show CTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCATGAGCCACTGTGCT CAGCCTTACCAGCACTGCATTTTCAAGATCGTCTGGAGAGGATTAAAAAA ATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGC AATGGCGTGATCTCGGCTCACTGCCACCTCCGCCTCCCAGGTTCAAGCAA TTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	384	0.0026	-205	c.241 others(15): Show c.241-524_241-320del	DDX27	ENSG00000124228.15	transcript	ENST00000618172.5	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
DDX51_chr12_132131594_132149319	132135724	ACGGTGCC others(198): Show ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02572.hp1 others(4): Show HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0016 a0002c0002 a0002c0016	a0002c0002t0003 a0002c0016t0003 a0002c0002t0003 a0002c0016t0003	a0002c0002t0003g0004 a0002c0002t0003g0029 a0002c0016t0003g0022 a0002c0002t0003g0004 a0002c0002t0003g0029 a0002c0016t0003g0022	7	325	0.0215	-205	c.33 others(11): Show c.3343_*3547del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		869		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1187774	CGGGACCT others(198): Show CGGGACCTCTGTGACGTTTGCCTCATGGAATCTCACACGCCCGGGACTTC CGTGATGTTTCCCTCACGGAATCTCACACACCCGGGACCCCCGTGACGTT TGCCTCACGGAATCTCACACGCCCGGGACCTCCGTGACATTTGCCTCACG GAATCTTGCACGCCCGGGACTTCCGTGACGTTTCCCTCACGGAATCTCAA ACGCCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0005 a0002c0006t0021 a0002c0001t0005 a0002c0006t0021	a0002c0001t0005g0035 a0002c0006t0021g0014 a0002c0001t0005g0035 a0002c0006t0021g0014	2	40	0.0500	-205	c.74- others(17): Show c.74-71052_74-70848del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJB6_chr7_157332004_157422439	157353090	TTAATTTT others(198): Show TTAATTTTTAAAATTTTTCGTAGAGACAGGGTTTCGCCGTGTTGCCAAGG CTGGTCTTGAACTGCTGGGCTCATGCAGTTTGTCCGCCTCGGGCTCCTAA AGTGTTGAGATTACAGGTGTGAGCTGCCGCACCCGGTCCAGTTTGGTTTC TGTGTCCTTTTGATGTACACTTCGTCTTTTTGAAGTTTTTAAACTTTATT TTGAGG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18954.hp1 NA18975.hp1 others(7): Show HG01433.hp1 NA18954.hp1 NA18975.hp1 NA18977.hp2 NA19000.hp1 NA19011.hp1 NA19060.hp1 NA19065.hp2 NA19082.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0180 others(7): Show a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0200 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0199	10	370	0.0270	-205	c.-26 others(17): Show c.-26-5454_-26-5250del	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTNA_chr18_34705298_34896844	34790342	AGGGGTAT others(198): Show AGGGGTATAAAACCCGGAGACAGGGTTTCTGATCCAGCCCAGAAAGATAT CCTTGAGGAAGTAATGTTGACGCCAAGGTATAGTAGATGAGATGTAGATG AGAAGTACACAGGGGCTAGATGAAAAAAGAAAAGAAAGAAAAAAAACTTC AATCCTTGTTTAGATTTCAAATTAATGGGAAGTTATTAAAGGACTTTAAG CAGCAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01109.hp2 others(13): Show HG01069.hp2 HG01070.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp2 HG01256.hp2 HG02257.hp1 HG02258.hp1 HG02523.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03704.hp2 HG03927.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 others(13): Show a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0003g0012 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0010g0009 a0001c0001t0011g0010	16	100	0.1600	-205	c.149 others(17): Show c.149-3694_149-3490del	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22			chr18	TogoVar
EPHA4_chr2_221413027_221577304	221424954	TCTAGGAC others(198): Show TCTAGGACCATCCCTCAGAGCCTGACCTCATCTGGGTCATATGTCACTTC TCCCCGGAAGAATAGCAGGGAAACCACACTGTGTTTGGTCTCCTCTTTCG CTGTCAAAAAAGGACTGAAATCCTGAAAAACATCAACACAACCTGAGAGA CATGAGAGAGTATTTTTCTGTTTTCAGTATTTCGAATGAGATCAAGTTTA AAGCAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19240.hp2 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0091 a0001c0002t0022g0273 a0001c0002t0022g0091 a0001c0002t0022g0273	2	292	0.0068	-205	c.81 others(16): Show c.819+50_*819+254del	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	17/17			chr2	TogoVar
FGD6_chr12_95071749_95222467	95149151	TAATATAT others(198): Show TAATATATAGCATATATAATATTATATATTATATAATATATAGCATATAT AATATTATATATTATATAATATATAGCATATATATTATATAATATATAGC ATATATATTATATATTATATTACATATAGCATATATAATATTATATATAA TATATTATATTATATAGCATATATTATATAATATATTATATAATATATAG CATATA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0223 a0002c0002t0003g0223	1	382	0.0026	-205	c.268 others(19): Show c.2685+3455_2685+3659del	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
GRTP1_chr13_113319163_113369130	113346493	AGTGGACC others(198): Show AGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTC TGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCG GGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAG AGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTG TGGCAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp2 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0178 a0001c0001t0002g0153 a0001c0001t0002g0178	2	286	0.0070	-205	c.466 others(17): Show c.466-1739_466-1535del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
MAD1L1_chr7_1810795_2237945	2058022	CAGAGGAG others(198): Show CAGAGGAGAGGAGAGGAGAGGCGCGGGGCTGGAGAGGGAGTGTGGCCAGA GGAGAGGAGAGGCGCGGGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGGAG AGGCGCGGGGCTGGAGAGGGAGTGTGGCTAGAGGAGAGAAGCAGGGCTGG AGAGGGAGTGTGGCCAGAGGAGAGGAGAGGCGCGGGGCTGGAGAGGGAGT GTGGCC	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0119 a0001c0004t0003g0119	1	162	0.0062	-205	c.121 others(21): Show c.1218+10967_1218+11171del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1333671	CCTGCACC others(198): Show CCTGCACCCACCCCATGCCCACCGTGTGCTCACCCCCTTGCCCACCCCCA TGCCCGTGCTCACCTCTGCACCCACCCCATGCCCACCCCCATGCCCACCT GTGCTCACCCCCATGCCCACTCCCGTGCCCATGTGCCCACCCCTGCACCC ACCCCATGCCCACCGTGTGCTCACCCCCCTGCCCACCCCCATGCCCGTGC TCACCT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	386	0.0026	-205	c.765 others(16): Show c.765+829_765+1033del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19452203	GAGAAGAG others(198): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AGAGAAGAGAAGAGAAGAGAAGAGAGAAAAGAAAAGAGAAAAGAAAAGAA AAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG06807.hp1 HG02895.hp1 HG06807.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0001 a0004c0005t0010 a0003c0004t0001 a0004c0005t0010	a0003c0004t0001g0045 a0004c0005t0010g0007 a0003c0004t0001g0045 a0004c0005t0010g0007	2	161	0.0124	-205	c.995 others(17): Show c.995+4505_995+4709del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MLPH_chr2_237482251_237560322	237543094	GGGGACAG others(198): Show GGGGACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAGTGAGT AGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGA GTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACAGTAGT GAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGGGACAGTG GTGAGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0101 a0001c0001t0002g0102	2	284	0.0070	-205	c.153 others(17): Show c.1539+439_1539+643del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544942	GGGGACAG others(198): Show GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAAT GGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCACAGTGGTGAG TGGGGACAGTGGGTGGAGGGGGCACTATTGGTAGGGGGGACAATTATTGG GGGGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATAGTT ATGAGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0027 a0027	a0027c0038 a0027c0038	a0027c0038t0019 a0027c0038t0019	a0027c0038t0019g0006 a0027c0038t0019g0006	1	283	0.0035	-205	c.154 others(19): Show c.1540-1660_1540-1456del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MORN1_chr1_2316253_2396554	2324456	AGGCCTCC others(198): Show AGGCCTCCCAGGGTGCAACTGAGAAGATCCCGGAGGGCGGGAAAGACCCT GAGCCCCTGAGAGACGGCGAGGCTGGAGCCTGCAGGGAGCGACTTAGGAG CGGCGGAAGTCTCAGCAAGAGGGACCAGGAGGCCCGGCGGTGGTATGGTG CCCCCTTGGAGGAACAGAGGCCCAGTGTCACCTGGGAGTGCCATGACTGG GAAAGG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	78	0.0128	-205	c.125 others(17): Show c.1251-518_1251-314del	MORN1	ENSG00000116151.14	transcript	ENST00000378531.8	protein_coding	12/13			chr1	TogoVar
MUC4_chr3_195741771_195816929	195767597	CCATCATC others(198): Show CCATCATCACCATTGCCACCACCATCACCACCATCACCACCACCATCGCC ACCACCACCACCACCACCATCACCATCACCACCATCACTGGCCACCCCCC AAAAAATACCACCATCGGCCACCACCACCATCACCACCACCATCACCATC GCCACCACCACCATCACCACCACCACCACCATCACCACCATCATTGCCAC CACCAT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	247	0.0040	-205	c.135 others(20): Show c.13530-1051_13530-847del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
NEDD4L_chr18_58039226_58406539	58170520	AGGACAGA others(198): Show AGGACAGAACACTGCTGCCCACCTCATCACCCCAGCCCAAGAGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCAT CACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGC CCAAGG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0062 a0001c0001t0020g0062	1	99	0.0101	-205	c.122 others(17): Show c.122+4679_122+4883del	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NKD2_chr5_1003802_1043943	1022972	GTTGTCCC others(198): Show GTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCATCCC AGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0264 a0001c0001t0007g0264	1	159	0.0063	-205	c.142 others(17): Show c.142-9146_142-8942del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024019	GCTGTGGG others(198): Show GCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCC TGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCC CACCCT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0195 a0001c0001t0019g0195	1	227	0.0044	-205	c.142 others(17): Show c.142-8121_142-7917del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1024899	TTTGTCCC others(198): Show TTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGT GGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTC AGCCCG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0083 a0001c0001t0008g0083	1	151	0.0066	-205	c.142 others(17): Show c.142-7233_142-7029del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025652	CCCACCCT others(198): Show CCCACCCTCTGTGGGTGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTC TGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGCCCCAGCCCA TTGTCCCTGCTCTTCCCACCCGCTAGTGGGCATCTCAGCCCGTTGTCCCT GCTCTT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	318	0.0031	-205	c.142 others(17): Show c.142-6497_142-6293del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NRIP3_chr11_8975576_9009001	8978386	CCCGCCCG others(198): Show CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	404	0.0025	-205	c.49 others(11): Show c.4954_*5158del	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		2189		chr11	TogoVar
OCLN_chr5_69487790_69563104	69515180	GGGGCGGC others(198): Show GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTAACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGGGCCCCTCACCTCC CAGACA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	288	0.0035	-205	c.891 others(17): Show c.891+1090_891+1294del	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
ODF3L2_chr19_458361_479983	472930	GCAGAGAT others(198): Show GCAGAGATACATGGTCACAGATGGGGAGACTGAGGCCCAGGCAGAGATAC ATGGTCACAGATGGGGAAACTGAGGCCCAGGCAGAGATACATGGTCACAG ATGGGGAAACTGAGGCCCAGGCAGAGATACACGGTCACAGATGGGGAGAC TGAGGCCCAGGCAGAGATACACGGTCACAGATCGGGAAACTGAGGCCTGA GCCTCC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0110 a0002c0001t0001g0110	1	322	0.0031	-205	c.128 others(15): Show c.128-634_128-430del	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3			chr19	TogoVar
PSD3_chr8_18522303_19018703	18594135	TATATATA others(198): Show TATATATATTATATAATATATATTATTATATACATATTATATAATATATA TTATTATATACATATTATATAATATATATTATTATATATATTATATAATA TATATTATTATATATATTATATAATATATATTATTATATATATTATATAA TATATATTATATATAATAATATATATTATTATATATAATATATATTATAA TATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(35): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01261.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02280.hp1 HG02451.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18966.hp1 NA18981.hp1 NA18989.hp1 NA19001.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19074.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0014 others(6): Show a0001c0001 a0001c0002 a0001c0014 a0001c0016 a0002c0003 a0002c0005 a0003c0004 a0003c0008 a0004c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 others(25): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 a0001c0001t0049 a0001c0001t0066 a0001c0001t0069 a0001c0001t0073 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0038 a0001c0002t0048 a0001c0014t0013 a0001c0016t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0013 a0002c0003t0034 a0002c0003t0044 a0002c0003t0071 a0002c0003t0085 a0002c0005t0007 a0002c0005t0075 a0003c0004t0045 a0003c0004t0080 a0003c0008t0007 a0004c0006t0001	a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0075 others(35): Show a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0119 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0007g0102 a0001c0001t0007g0104 a0001c0001t0029g0045 a0001c0001t0029g0098 a0001c0001t0049g0154 a0001c0001t0066g0114 a0001c0001t0069g0018 a0001c0001t0073g0022 a0001c0002t0001g0027 a0001c0002t0001g0080 a0001c0002t0008g0035 a0001c0002t0008g0108 a0001c0002t0009g0088 a0001c0002t0038g0124 a0001c0002t0048g0026 a0001c0014t0013g0180 a0001c0016t0001g0044 a0002c0003t0001g0062 a0002c0003t0004g0225 a0002c0003t0007g0111 a0002c0003t0013g0141 a0002c0003t0034g0042 a0002c0003t0044g0121 a0002c0003t0071g0110 a0002c0003t0085g0227 a0002c0005t0007g0057 a0002c0005t0075g0036 a0003c0004t0045g0082 a0003c0004t0080g0220 a0003c0008t0007g0128 a0004c0006t0001g0071	38	220	0.1727	-205	c.248 others(19): Show c.2481+6024_2481+6228del	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
RBL1_chr20_36991349_37100997	37000804	GTCCGGGA others(198): Show GTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGACGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCC GCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG03453.hp2 others(1): Show HG02615.hp2 HG03130.hp1 HG03453.hp2 HG03579.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0010 a0003c0003 a0009c0010	a0003c0003t0008 a0009c0010t0008 a0003c0003t0008 a0009c0010t0008	a0003c0003t0008g0068 a0003c0003t0008g0069 a0003c0003t0008g0071 others(1): Show a0003c0003t0008g0068 a0003c0003t0008g0069 a0003c0003t0008g0071 a0009c0010t0008g0070	4	352	0.0114	-205	c.303 others(19): Show c.3037-2080_3037-1876del	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RFX7_chr15_56082280_56248879	56110748	CACCCCGT others(198): Show CACCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCC ACCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCTGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGG AGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(89): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG01106.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02273.hp1 HG02523.hp1 HG02615.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0002 a0001c0004 a0001c0017 others(2): Show a0001c0002 a0001c0004 a0001c0017 a0004c0008 a0009c0016	a0001c0002t0002 a0001c0002t0009 a0001c0002t0025 others(7): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0025 a0001c0002t0037 a0001c0002t0038 a0001c0004t0002 a0001c0017t0002 a0004c0008t0002 a0004c0008t0039 a0009c0016t0002	a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 others(89): Show a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0009g0052 a0001c0002t0009g0075 a0001c0002t0009g0100 a0001c0002t0009g0125 a0001c0002t0009g0133 a0001c0002t0025g0012 a0001c0002t0037g0055 a0001c0002t0038g0044 a0001c0004t0002g0092 a0001c0017t0002g0103 a0004c0008t0002g0113 a0004c0008t0002g0114 a0004c0008t0002g0116 a0004c0008t0002g0117 a0004c0008t0039g0115 a0009c0016t0002g0046	92	358	0.2570	-205	c.402 others(17): Show c.402-7283_402-7079del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RGPD4_chr2_107821892_107897544	107828621	TGGCCCGG others(198): Show TGGCCCGGCGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCGACGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCG GCGGCGGCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCATCAT GGCTCCTGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCT CGACCC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0046 a0046	a0046c0067 a0046c0067	a0046c0067t0002 a0046c0067t0002	a0046c0067t0002g0133 a0046c0067t0002g0133	1	332	0.0030	-205	c.72+ others(15): Show c.72+1566_72+1770del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828684	CGCTCTGT others(198): Show CGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGA CCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCATCATGGCTCCTGACGGG CGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGG CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGCGCTGCTCCC TGGCGT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19064.hp1 NA19077.hp1 NA18960.hp2 NA19064.hp1 NA19077.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085	3	372	0.0081	-205	c.72+ others(15): Show c.72+1613_72+1817del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828717	GGCGGCGG others(198): Show GGCGGCGGCGGCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCA TCATGGCTCCTGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCG GCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCC CGACCGGCGCTGCTCCCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCC GGCCCC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0129 a0004c0004t0002g0129	1	372	0.0027	-205	c.72+ others(15): Show c.72+1641_72+1845del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD8_chr2_112363369_112438645	112433136	GGGCCGGG others(198): Show GGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCC CGTCGGGAGCCATGACCCCTGACCCATCGAGGCCGCCGCCGGGCCGGGTG GAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGC CATGACCCCTGACCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCG CCGCCC	G G	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0018 a0001c0001t0021g0018	1	254	0.0039	-205	c.72+ others(12): Show c.72+41_72+245del	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding	1/22			chr2	TogoVar
SBK2_chr19_55523611_55542133	55530501	AGGCCTAG others(198): Show AGGCCTAGTGTGACCTGTGAGGCCTGTGGGTTTAGTGGGGCCTAGTGTGA CCTGTGAGGCCTGTGGGTTTAGTGTGGCTTAGTGTGACCCGTGAGGCCTG TGGGTTTAGTGTGGCCTAGTGTGACCCGTGAGGCCTGTGGGTTTAGTGTG GCCTAGGGTGACCCCGTGAGGCCTAGTGTGACCTGTGAGGCCTGTGGGTT TAGTGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0028 a0003c0003t0028	a0003c0003t0028g0218 a0003c0003t0028g0218	1	430	0.0023	-205	c.457 others(15): Show c.457-383_457-179del	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	3/3			chr19	TogoVar
SENP1_chr12_48037897_48111079	48056767	AACATATT others(198): Show AACATATTACATATTACATATATATTATTTAATATATTACATATTACATA TATAAATATATTTAACATATTACATATTACATATATATTATTTAATATAT TACATATTACATATATAATATATTATTTAATATATTACATATTACATATA TAATATATTATTTAATATATTACATATTACATATATAATATATTATTTAA TATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp1 others(53): Show HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG04204.hp2 NA18612.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18972.hp2 NA18979.hp2 NA18990.hp2 NA18993.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19080.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0004 others(46): Show a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0007 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0155 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0176 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0192 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0287	56	381	0.1470	-205	c.140 others(19): Show c.1407+6738_1407+6942del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48056819	TAAATATA others(198): Show TAAATATATTTAACATATTACATATTACATATATATTATTTAATATATTA CATATTACATATATAATATATTATTTAATATATTACATATTACATATATA ATATATTATTTAATATATTACATATTACATATATAATATATTATTTAATA TATTACATATTACATATATAAATATATTATTTAATATATTACATATTACA TATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	262	0.0038	-205	c.140 others(19): Show c.1407+6686_1407+6890del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SGTA_chr19_2749715_2788273	2772793	ACCGAGGG others(198): Show ACCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGC AGAGGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAAATGGG TGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGC CACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCAGCCACACGGCA GGGACT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18948.hp1 NA18952.hp2 others(7): Show HG00423.hp1 NA18948.hp1 NA18952.hp2 NA18962.hp2 NA18980.hp2 NA18986.hp2 NA18994.hp1 NA19002.hp1 NA19066.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0003c0013	a0001c0002t0002 a0001c0003t0003 a0001c0004t0003 others(1): Show a0001c0002t0002 a0001c0003t0003 a0001c0004t0003 a0003c0013t0003	a0001c0002t0002g0083 a0001c0003t0003g0148 a0001c0003t0003g0149 others(7): Show a0001c0002t0002g0083 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0154 a0001c0004t0003g0127 a0001c0004t0003g0146 a0003c0013t0003g0147	10	390	0.0256	-205	c.-23 others(17): Show c.-23-3907_-23-3703del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar

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