Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BSPH1_chr19_47963046_47997170	47992805	GGGATCGT others(134): Show GGGATCGTTTGCAACCAGGAGTTTGAGACCAGCCTGGGAAACATAATGAG ACCCCCCATCTCTACAAAAAAAAAATTGACGAATTAGCCGAGCATGGTGG CATGTGCCTGTTGTCCCAGCACTTTGGGAGGTTGAGGTAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0428 a0003c0005t0001g0428	1	444	0.0023	-141	c.-86 others(9): Show c.-865_-725del		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding					636		chr19	TogoVar
C13orf46_chr13_113948705_113979076	113974161	GCTTTCCT others(134): Show GCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCT TTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTC CCGCAGGCCGGGGTTGGGGCGGGTTCTGCGTCTTCCCTTCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01109.hp2 others(12): Show HG00642.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp1 HG01256.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01952.hp2 HG02300.hp1 HG03041.hp1 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0079 a0001c0001t0080	a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 others(8): Show a0001c0001t0005g0009 a0001c0001t0005g0029 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0006g0005 a0001c0001t0019g0075 a0001c0001t0019g0076 a0001c0001t0019g0077 a0001c0001t0019g0078 a0001c0001t0079g0079 a0001c0001t0080g0081	15	414	0.0362	-141	c.-30 others(9): Show c.-305_-165del		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding					86		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113974227	CTGGGGCG others(134): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01109.hp1 others(32): Show HG00738.hp2 HG01070.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01891.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0023 others(15): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0088	a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 others(20): Show a0001c0001t0006g0005 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0012g0007 a0001c0001t0023g0038 a0001c0001t0023g0115 a0001c0001t0030g0097 a0001c0001t0030g0101 a0001c0001t0031g0033 a0001c0001t0032g0034 a0001c0001t0033g0095 a0001c0001t0033g0100 a0001c0001t0062g0187 a0001c0001t0063g0114 a0001c0001t0064g0113 a0001c0001t0069g0104 a0001c0001t0070g0105 a0001c0001t0071g0184 a0001c0001t0072g0106 a0001c0001t0073g0112 a0001c0001t0076g0096 a0001c0001t0077g0188 a0001c0001t0088g0246	35	414	0.0845	-141	c.-37 others(9): Show c.-371_-231del		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding					152		chr13	TogoVar
CAB39L_chr13_49303650_49449064	49318484	GGGAAAGG others(134): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03834.hp2 HG02602.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0263 a0001c0001t0002g0055 a0001c0001t0002g0263	2	324	0.0062	-141	c.835 others(17): Show c.835-7632_835-7492del		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10						chr13	TogoVar
CARMIL1_chr6_25274374_25625530	25529642	TAAGAATA others(134): Show TAAGAATAGGCTGCTAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCCGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(83): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03834.hp1 NA18522.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18956.hp2 NA18970.hp1 NA18979.hp1 NA18983.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19063.hp1 NA19072.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0012 a0001c0015 a0001c0022 a0001c0029 a0001c0032 a0001c0037 a0002c0005 a0002c0007 a0002c0013 a0002c0028 a0002c0034 a0003c0010 a0003c0017 a0003c0023 a0003c0025 a0005c0019 a0005c0030 a0007c0021 a0009c0027 a0010c0020 a0011c0036 a0012c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0004t0002 a0001c0004t0006 a0001c0004t0009 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0008t0001 a0001c0008t0010 a0001c0009t0002 a0001c0009t0009 a0001c0009t0011 a0001c0009t0017 a0001c0012t0005 a0001c0012t0006 a0001c0015t0002 a0001c0015t0009 a0001c0022t0002 a0001c0029t0006 a0001c0032t0011 a0001c0037t0002 a0002c0005t0005 a0002c0005t0006 a0002c0007t0003 a0002c0007t0006 a0002c0013t0010 a0002c0028t0003 a0002c0034t0011 a0003c0010t0003 a0003c0017t0006 a0003c0023t0002 a0003c0025t0002 a0005c0019t0001 a0005c0019t0005 a0005c0030t0005 a0007c0021t0017 a0009c0027t0002 a0010c0020t0015 a0011c0036t0001 a0012c0026t0002	a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0102 others(83): Show a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0102 a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0001t0003g0071 a0001c0001t0006g0061 a0001c0001t0019g0014 a0001c0001t0021g0163 a0001c0002t0001g0005 a0001c0002t0001g0016 a0001c0002t0003g0060 a0001c0002t0005g0154 a0001c0002t0010g0170 a0001c0003t0002g0002 a0001c0003t0002g0010 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0052 a0001c0003t0002g0057 a0001c0003t0002g0059 a0001c0003t0002g0082 a0001c0003t0002g0089 a0001c0003t0002g0114 a0001c0003t0003g0053 a0001c0003t0004g0022 a0001c0003t0007g0144 a0001c0003t0008g0127 a0001c0003t0009g0134 a0001c0003t0009g0137 a0001c0003t0009g0138 a0001c0003t0010g0155 a0001c0004t0002g0015 a0001c0004t0002g0043 a0001c0004t0002g0088 a0001c0004t0006g0027 a0001c0004t0009g0182 a0001c0006t0001g0126 a0001c0006t0002g0074 a0001c0006t0002g0087 a0001c0006t0002g0099 a0001c0006t0002g0106 a0001c0006t0002g0110 a0001c0006t0002g0117 a0001c0006t0002g0131 a0001c0006t0003g0049 a0001c0006t0003g0069 a0001c0008t0001g0003 a0001c0008t0010g0148 a0001c0009t0002g0025 a0001c0009t0009g0046 a0001c0009t0011g0031 a0001c0009t0017g0166 a0001c0012t0005g0156 a0001c0012t0006g0118 a0001c0012t0006g0119 a0001c0012t0006g0120 a0001c0015t0002g0032 a0001c0015t0009g0145 a0001c0022t0002g0108 a0001c0029t0006g0129 a0001c0032t0011g0097 a0001c0037t0002g0083 a0002c0005t0005g0158 a0002c0005t0006g0021 a0002c0005t0006g0116 a0002c0007t0003g0024 a0002c0007t0006g0033 a0002c0007t0006g0035 a0002c0007t0006g0091 a0002c0013t0010g0047 a0002c0028t0003g0038 a0002c0034t0011g0122 a0003c0010t0003g0104 a0003c0010t0003g0132 a0003c0017t0006g0103 a0003c0023t0002g0072 a0003c0025t0002g0063 a0005c0019t0001g0034 a0005c0019t0005g0139 a0005c0030t0005g0159 a0007c0021t0017g0167 a0009c0027t0002g0042 a0010c0020t0015g0160 a0011c0036t0001g0001 a0012c0026t0002g0070	86	186	0.4624	-141	c.206 others(17): Show c.2067+765_2067+905del		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPVL3_chrX_51612020_51623912	51621563	CTTCTTCT others(134): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	298	0.0034	-141	c.-28 others(11): Show c.-2831_-2691del		CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding					2652		chrX	TogoVar
CFAP74_chr1_1916957_2008786	1981466	CCAGCCGC others(134): Show CCAGCCGCGGTCACACGCGGGGGCACGCAGGACACCCAACCACGGACAGA CATGGGGGCACGCAGGACACACAGCCGCGGACAGACACGGGGGGCACACA GGACACCCAGCCGTGGACAGACACGGGGACACGCAGGACACA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0076 a0002c0076	a0002c0076t0002 a0002c0076t0002	a0002c0076t0002g0069 a0002c0076t0002g0069	1	278	0.0036	-141	c.500 others(17): Show c.500+3779_500+3919del		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38						chr1	TogoVar
CFAP74_chr1_1916957_2008786	1981903	ACGGGGGC others(134): Show ACGGGGGCACGCAGGACACACAGCCGCGGACAGACACGGGGGCACGCAGG ACACACAGCCGCGGACAGACACGGGGGGCACGCAGGACACCCAGCCGTGG ACAGACACGGGGACACGCAGGACACCCAGCCGTGGTCACATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0063 a0063	a0063c0040 a0063c0040	a0063c0040t0001 a0063c0040t0001	a0063c0040t0001g0134 a0063c0040t0001g0134	1	278	0.0036	-141	c.500 others(17): Show c.500+3342_500+3482del		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38						chr1	TogoVar
CLTB_chr5_176387501_176421539	176394484	CAACATGG others(134): Show CAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGT GTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGTGGGCGGATCACGAGGTCAGATGGAGAGCATCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	406	0.0025	-141	c.519 others(17): Show c.519-1680_519-1540del		CLTB	ENSG00000175416.16	transcript	ENST00000310418.9	protein_coding	5/5						chr5	TogoVar
COL6A2_chr21_46093112_46134801	46133591	TGGGATAA others(134): Show TGGGATAAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGG GATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGAT GAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01243.hp1 others(10): Show HG00423.hp2 HG00597.hp1 HG01243.hp1 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG03239.hp2 HG04199.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0003c0033 a0001c0002 a0003c0007 a0003c0033	a0001c0002t0007 a0003c0007t0007 a0003c0033t0007 a0001c0002t0007 a0003c0007t0007 a0003c0033t0007	a0001c0002t0007g0201 a0003c0007t0007g0013 a0003c0007t0007g0042 others(9): Show a0001c0002t0007g0201 a0003c0007t0007g0013 a0003c0007t0007g0042 a0003c0007t0007g0043 a0003c0007t0007g0048 a0003c0007t0007g0195 a0003c0007t0007g0196 a0003c0007t0007g0197 a0003c0007t0007g0203 a0003c0007t0007g0205 a0003c0007t0007g0206 a0003c0033t0007g0202	13	372	0.0350	-141	c.41 others(11): Show c.4101_*4241del		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding					3791		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133591	TGGGATAA others(134): Show TGGGATAAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGG GATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGAT GAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01243.hp1 others(10): Show HG00423.hp2 HG00597.hp1 HG01243.hp1 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG03239.hp2 HG04199.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA20752.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0044 a0003c0008 a0003c0054 others(1): Show a0001c0044 a0003c0008 a0003c0054 a0008c0027	a0001c0044t0003 a0003c0008t0003 a0003c0054t0003 others(1): Show a0001c0044t0003 a0003c0008t0003 a0003c0054t0003 a0008c0027t0003	a0001c0044t0003g0197 a0003c0008t0003g0044 a0003c0008t0003g0045 others(9): Show a0001c0044t0003g0197 a0003c0008t0003g0044 a0003c0008t0003g0045 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0192 a0003c0008t0003g0193 a0003c0008t0003g0199 a0003c0008t0003g0201 a0003c0008t0003g0202 a0003c0054t0003g0198 a0008c0027t0003g0013	13	364	0.0357	-141	c.10 others(11): Show c.1040_*1180del		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding					744		chr21	TogoVar
COX7B2_chr4_46729827_46914245	46747871	TTTAACGT others(134): Show TTTAACGTTACTATGAAATAATAGCCGATATGCCTCACAGACATCTTTAA GAACAAACGTAATTTATAATACTGAATATATACAAAATAACCAGAACCAA GATAGTTAAAATCTAATTGTGCTTAGAATTAACAGTATCTAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03490.hp1 HG03654.hp2 others(4): Show HG00544.hp1 HG03490.hp1 HG03654.hp2 HG04204.hp1 NA18960.hp2 NA18966.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0002g0012 others(4): Show a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0033	7	300	0.0233	-141	c.-49 others(19): Show c.-49-12771_-49-12631del		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2						chr4	TogoVar
CPHXL_chr16_75709131_75731490	75719023	TTCCACGA others(134): Show TTCCACGAGTGTAGTTGATTTGTGAACATTAGTTAAATTAAACATGTATA AATATTTGCTATTTTTGGCATGCATGCTATATTTCAATTAAATATTTCTT TTGAGCCAAGATGGCCAAATAGGAACAGCTACAGTCTACAGC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0177 a0004c0007t0001g0177	1	388	0.0026	-141	c.26- others(13): Show c.26-706_26-566del		CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2						chr16	TogoVar
CPNE7_chr16_89570758_89602246	89571003	CGGGGCAC others(134): Show CGGGGCACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGCACG GGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAGCGGGGACGGGAGGAGGT GAGCGGGGACGGGAGGAGGTGAGCGGGCACGGGAGGAGGTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0317 a0001c0005t0002g0317	1	348	0.0029	-141	c.-48 others(11): Show c.-4894_-4754del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					4754		chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924583	GGCCCCCC others(134): Show GGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAT CCCGGCCCCCCACACTACCCCGGCCCCCCACACTAACCCAGCCCCCACAC TGACCCGGCCCCCCACACTGACCCGGCCCCCACACTGACCCA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03579.hp2 HG01261.hp1 HG03579.hp2	a0002 a0046 a0002 a0046	a0002c0070 a0046c0069 a0002c0070 a0046c0069	a0002c0070t0001 a0046c0069t0001 a0002c0070t0001 a0046c0069t0001	a0002c0070t0001g0188 a0046c0069t0001g0187 a0002c0070t0001g0188 a0046c0069t0001g0187	2	350	0.0057	-141	c.489 others(16): Show c.489-1134_489-994del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1266817	CTGTGTGC others(134): Show CTGTGTGCAGGTGTGTGGGGATGTGTGTGTGCAGGTCTGTGTGTGCAGAC ATGCACGTGTATGCAGGTGTGTGTGTGTGTACAGATGTGTGTGCAGGTGT GTGTGCAGATGTGTGTGTAGTTGTGTGTATGCACATGTGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	159	0.0063	-141	c.-21 others(11): Show c.-2152_-2012del		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding					1996		chrX	TogoVar
DIP2C_chr10_269201_694668	608315	ACACACAC others(134): Show ACACACACAGCCCCTACACACACACAGCCCCCCCACACACCCCCCCACAG CCCCCCCCACACACAGCCCCCCACACACACACCCCCACAGCCCCCCACAC ACACCCCCAGCCCCCCCCACACACACCCCCCCCACACCCATC	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	88	0.0114	-141	c.85+ others(17): Show c.85+81038_85+81178del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DOK7_chr4_3458306_3499482	3490014	TCCTGCTC others(134): Show TCCTGCTCATTCATTCCTTCCTTCTTCCTCCTACTCATTAATTCCTTCCT CCCCCCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCACCCCCAT TCATTCCTTTTCTCCCTGCTCATTCATTCCTTCCTTCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	404	0.0025	-141	c.772 others(15): Show c.772+233_772+373del		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490068	CCATTCCT others(134): Show CCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCACCCCCATTCAT TCCTTTTCTCCCTGCTCATTCATTCCTTCCTTCCCCACCCTGCTCATTCA TTTCTTCCTCCGCCCCCCCCACTCATTCCTTCCCCCCTCATT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01928.hp2 others(2): Show HG01361.hp1 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG02148.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0021 a0003c0003t0004g0237 a0003c0003t0004g0328 others(1): Show a0003c0003t0004g0021 a0003c0003t0004g0237 a0003c0003t0004g0328 a0003c0003t0004g0329	5	404	0.0124	-141	c.772 others(15): Show c.772+280_772+420del		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490076	TTCTTCAC others(134): Show TTCTTCACCCCCTCATTCATTCCTTTCTTCACCCCCATTCATTCCTTTTC TCCCTGCTCATTCATTCCTTCCTTCCCCACCCTGCTCATTCATTTCTTCC TCCGCCCCCCCCACTCATTCCTTCCCCCCTCATTCATTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18952.hp1 NA19010.hp2 others(1): Show HG01981.hp1 NA18952.hp1 NA19010.hp2 NA19064.hp1	a0003 a0018 a0003 a0018	a0003c0003 a0018c0020 a0003c0003 a0018c0020	a0003c0003t0007 a0003c0003t0029 a0018c0020t0007 a0003c0003t0007 a0003c0003t0029 a0018c0020t0007	a0003c0003t0007g0036 a0003c0003t0007g0101 a0003c0003t0029g0156 others(1): Show a0003c0003t0007g0036 a0003c0003t0007g0101 a0003c0003t0029g0156 a0018c0020t0007g0028	4	404	0.0099	-141	c.772 others(15): Show c.772+305_772+445del		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
ELSPBP1_chr19_47989632_48030154	47992784	GCTTTGGG others(134): Show GCTTTGGGAGGTTAAGGTAGGGGGATCGTTTGCAACCAGGAGTTTGAGAC CAGCCTGGGAAACATAATGAGACCCCCCATCTCTACAAAAAAAAAATTGA CGAATTAGCCGAGCATGGTGGCATGTGCCTGTTGTCCCAGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	388	0.0026	-141	c.-20 others(11): Show c.-2044_-1904del		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding					1847		chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	47992805	GGGATCGT others(134): Show GGGATCGTTTGCAACCAGGAGTTTGAGACCAGCCTGGGAAACATAATGAG ACCCCCCATCTCTACAAAAAAAAAATTGACGAATTAGCCGAGCATGGTGG CATGTGCCTGTTGTCCCAGCACTTTGGGAGGTTGAGGTAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02723.hp2 HG02148.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0360 a0001c0001t0001g0113 a0001c0001t0001g0360	2	388	0.0052	-141	c.-20 others(11): Show c.-2023_-1883del		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding					1826		chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16468029	GGCCCAGG others(134): Show GGCCCAGGGCAGTCTCTCCTCATCACTGAGCCCAGTTACCACGCGCTTCC TAGGTACAGCGGTCACAAAAGGGACCCACGGAAGGTACAAGGGAGAGAAC TCTCATTCGGGTGGGGCTAAGGGAGGACAACACAGGGGAGGC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	276	0.0036	-141	c.33+ others(15): Show c.33+3743_33+3883del		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	1/23						chr19	TogoVar
ERC1_chr12_986223_1500931	1079284	CAAGTCGA others(134): Show CAAGTCGATATACAGAGATACAGATAGAAATGATTTGTAATATGACAAAA GTCGATATACAGAGATACAGATAGAAATGATTTGTAATATGACAAAAGTC GATATACAGAGATACAGATAGAAATGATTTGTAATATGACAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0105 a0002c0002t0105	a0002c0002t0105g0148 a0002c0002t0105g0148	1	162	0.0062	-141	c.670 others(17): Show c.670-3578_670-3438del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1079590	TAGAAATG others(134): Show TAGAAATGATTTGTAATATGACAAAAGTCGATATACAGAGATACAGATAG AAATGATTTGTAATATGACAAAAGTCGATATACAGAGATACAGATAGAAA TGATTTGTAATATGACAAAAGTCGATATACAGAGATATAGAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01346.hp1 HG01884.hp2 others(4): Show HG01257.hp1 HG01346.hp1 HG01884.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0040 a0001c0001t0049 a0001c0001t0058 others(3): Show a0001c0001t0040 a0001c0001t0049 a0001c0001t0058 a0002c0002t0001 a0002c0002t0005 a0002c0002t0039	a0001c0001t0040g0150 a0001c0001t0049g0157 a0001c0001t0058g0141 others(4): Show a0001c0001t0040g0150 a0001c0001t0049g0157 a0001c0001t0058g0141 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0005g0133 a0002c0002t0039g0151	7	162	0.0432	-141	c.670 others(17): Show c.670-3437_670-3297del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FAM193A_chr4_2531647_2737573	2627387	AATCCACC others(134): Show AATCCACCTGCCTTGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CTGCGTCCGGCAACATAACATATTTTTATGTTTTTTGAAATGTTTCAAAT GAAAGCAACTTATTTGAGATGGCCATTTCATGGGTTGATTCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(99): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02486.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18970.hp1 NA18974.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp2 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19067.hp1 NA19070.hp1 NA19075.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0013 a0015	a0001c0001 a0002c0006 a0002c0013 others(3): Show a0001c0001 a0002c0006 a0002c0013 a0005c0005 a0013c0019 a0015c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0006t0002 a0002c0006t0017 a0002c0013t0002 a0005c0005t0002 a0013c0019t0002 a0015c0015t0002	a0001c0001t0001g0065 a0001c0001t0001g0133 a0001c0001t0002g0006 others(99): Show a0001c0001t0001g0065 a0001c0001t0001g0133 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0006g0016 a0001c0001t0006g0037 a0001c0001t0006g0042 a0001c0001t0006g0052 a0002c0006t0002g0046 a0002c0006t0002g0060 a0002c0006t0002g0102 a0002c0006t0002g0105 a0002c0006t0017g0096 a0002c0013t0002g0018 a0005c0005t0002g0138 a0013c0019t0002g0055 a0015c0015t0002g0028	102	330	0.3091	-141	c.803 others(15): Show c.803+811_803+951del		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	4/20						chr4	TogoVar
FAM20A_chr17_68530116_68606367	68581439	TCTTTTTT others(134): Show TCTTTTTTTCTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTCTTCTTTCTCTTTCTCTCCTTTCTTTCTCTTTCTTTCTT TTCTTTTCTTTCTTTCTTTCCTCTCTCTCTCTTTCTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0300 a0008c0021t0001g0300	1	380	0.0026	-141	c.404 others(19): Show c.404+18683_404+18823del		FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10						chr17	TogoVar
FAM83B_chr6_54841771_54950099	54851945	CCTAATTT others(134): Show CCTAATTTTTGTGTTTTTAGTAGGGACGGAGTTTCACTATGTTGGCCTGG CTGGTCTCAAACTCCTGACCTTGTGATCCACCCACCTCGGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTATTTA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01361.hp2 others(6): Show HG00735.hp2 HG01167.hp1 HG01361.hp2 HG01993.hp2 HG02698.hp2 NA18953.hp2 NA18977.hp2 NA18982.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 others(6): Show a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0139	9	272	0.0331	-141	c.-61 others(17): Show c.-61+5121_-61+5261del		FAM83B	ENSG00000168143.9	transcript	ENST00000306858.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
FGR_chr1_27607064_27640185	27608845	TGTGTGTG others(134): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCGATACTG TACCTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCAATACTGTACCT GGGGTATGTGTGTGTGTGTGTGTCTTCGATACTGTACCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00621.hp2 others(17): Show HG00140.hp1 HG00140.hp2 HG00621.hp2 HG01070.hp2 HG01081.hp2 HG01257.hp1 HG01496.hp2 HG01928.hp1 HG01981.hp2 HG02273.hp1 HG02738.hp1 HG03490.hp1 HG03654.hp1 HG03704.hp2 HG04199.hp1 NA18612.hp2 NA18951.hp2 NA18964.hp1 NA18974.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0007t0001 a0001c0001t0001 a0001c0001t0005 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0026 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0005g0201 a0001c0007t0001g0137	20	278	0.0719	-141	c.39 others(11): Show c.3928_*4068del		FGR	ENSG00000000938.13	transcript	ENST00000374005.8	protein_coding					3218		chr1	TogoVar
FOXN3_chr14_89151177_89422233	89361864	ACCACCAC others(134): Show ACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTC CAGCACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCA CCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0187 a0001c0001t0077g0187	1	230	0.0044	-141	c.544 others(19): Show c.544-11197_544-11057del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361964	CCTCCACC others(134): Show CCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACC ACCTCCACCACTACCACCTCCAGCACCACCACCTCCACCACCACCTCCAC CACTACCACCTCCAGCACCACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0210 a0001c0001t0010g0210	1	230	0.0044	-141	c.544 others(19): Show c.544-11297_544-11157del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362227	ACCACCTC others(134): Show ACCACCTCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTC CACCACCACCACCTCCACCACCACCACCACCACCTCCAGCACCACCTCTA CCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0062 a0001c0001t0014g0062	1	230	0.0044	-141	c.544 others(19): Show c.544-11560_544-11420del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FTCD_chr21_46131779_46160579	46133591	TGGGATAA others(134): Show TGGGATAAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGG GATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGAT GAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01517.hp2 NA18944.hp2 others(1): Show HG00423.hp1 HG01517.hp2 NA18944.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0012 a0001c0001 a0001c0002 a0005c0012	a0001c0001t0009 a0001c0002t0009 a0005c0012t0009 a0001c0001t0009 a0001c0002t0009 a0005c0012t0009	a0001c0001t0009g0094 a0001c0002t0009g0046 a0001c0002t0009g0155 others(1): Show a0001c0001t0009g0094 a0001c0002t0009g0046 a0001c0002t0009g0155 a0005c0012t0009g0014	4	230	0.0174	-141	c.32 others(11): Show c.3255_*3395del		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					3187		chr21	TogoVar
FTCD_chr21_46131779_46160579	46133597	AAGCTCAC others(134): Show AAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATGAG CTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTAGGATGAGCTC ACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	230	0.0044	-141	c.32 others(11): Show c.3249_*3389del		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					3181		chr21	TogoVar
GALNT9_chr12_132191372_132334589	132231646	CACACACT others(134): Show CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 NA18522.hp1 HG00140.hp1 HG01243.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0018 a0001c0002 a0001c0007 a0001c0018	a0001c0002t0001 a0001c0007t0001 a0001c0018t0001 a0001c0002t0001 a0001c0007t0001 a0001c0018t0001	a0001c0002t0001g0068 a0001c0007t0001g0104 a0001c0018t0001g0047 a0001c0002t0001g0068 a0001c0007t0001g0104 a0001c0018t0001g0047	3	183	0.0164	-141	c.107 others(21): Show c.1077+16123_1077+16263del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232250	CGTGGAGT others(134): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGGGACAGCGTGG AGCCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	183	0.0055	-141	c.107 others(21): Show c.1077+15519_1077+15659del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GATA5_chr20_62458497_62480995	62476958	CTTTCTTT others(134): Show CTTTCTTTTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGC CATGAAAGTTCTTTTTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG02895.hp1 HG01099.hp1 HG01123.hp1 HG02895.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0005 a0003c0016 a0001c0002 a0002c0005 a0003c0016	a0001c0002t0003 a0002c0005t0001 a0003c0016t0001 a0001c0002t0003 a0002c0005t0001 a0003c0016t0001	a0001c0002t0003g0016 a0002c0005t0001g0036 a0003c0016t0001g0054 a0001c0002t0003g0016 a0002c0005t0001g0036 a0003c0016t0001g0054	3	382	0.0079	-141	c.-11 others(11): Show c.-1191_-1051del		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					964		chr20	TogoVar
GGT1_chr22_24598193_24633996	24605156	ATATTATA others(134): Show ATATTATATATTATATAATATGTAATATATTATATAATATATAATATGTA TTATATTATATATTATATAATATGTATTATATTATATATTATATAATATG TATTATATATTATATAATATGTATTATATATTATATAATATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp2 HG03540.hp2 others(1): Show HG02630.hp2 HG02965.hp2 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0013 others(1): Show a0001c0001 a0001c0007 a0001c0013 a0002c0002	a0001c0001t0001 a0001c0007t0025 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0007t0025 a0001c0013t0001 a0002c0002t0002	a0001c0001t0001g0250 a0001c0007t0025g0275 a0001c0013t0001g0280 others(1): Show a0001c0001t0001g0250 a0001c0007t0025g0275 a0001c0013t0001g0280 a0002c0002t0002g0309	4	426	0.0094	-141	c.-42 others(19): Show c.-429+1653_-429+1793del		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRID2_chr4_92298966_93779566	93244489	CTATTAAT others(134): Show CTATTAATTAATAGATTATATAATCTATTAATTAATAGATTATATAATCT ATTAATTAATAGATTATATAATCTATTATATATTAATTAATAGATTATAT AATCTATTATATATTAATTAATAGATTATATAATCTATTATA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01496.hp1 others(16): Show HG01192.hp1 HG01192.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG02055.hp2 HG02615.hp1 HG02698.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03486.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA20129.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0004t0007 a0003c0007t0005	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0004g0031 a0001c0001t0006g0020 a0001c0002t0001g0004 a0001c0002t0001g0015 a0001c0004t0007g0028 a0003c0007t0005g0013	19	34	0.5588	-141	c.124 others(19): Show c.1245+6029_1245+6169del		GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
HELZ_chr17_67065444_67250196	67146839	AGTTTCTG others(134): Show AGTTTCTGGTCAGGGTAGTGACTGGAAAGGAGCACAAAGGGGCTTTTGGA GCACTGGTCATGTTCTGCTTCCTGATGTGGATTAGGGTTACATGCTGCAC GCAGGTGGTGACAATCCACTGAGTTGTTGAGATATATACCTT	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0037 a0002c0002t0003g0037	1	274	0.0037	-141	c.262 others(18): Show c.2622-1090_2622-950del		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	20/32						chr17	TogoVar
HIGD2A_chr5_176383751_176394761	176394484	CAACATGG others(134): Show CAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGT GTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGTGGGCGGATCACGAGGTCAGATGGAGAGCATCCTGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	442	0.0023	-141	c.49 others(11): Show c.4988_*5128del		HIGD2A	ENSG00000146066.3	transcript	ENST00000274787.3	protein_coding					4724		chr5	TogoVar
HMCN2_chr9_130260760_130439123	130277892	CCACCACC others(134): Show CCACCACCATCATCATCACCACCACCACCATCATCATCATCACCACCACC ATCATCATCATCACCACCACCACCACCATCATCATCACCACCACCACGAT CATCACCACCACCACCATCATCATCACCACCACCACGATCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0202 a0002c0202	a0002c0202t0002 a0002c0202t0002	a0002c0202t0002g0187 a0002c0202t0002g0187	1	258	0.0039	-141	c.260 others(17): Show c.260-6702_260-6562del		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
INO80D_chr2_205988721_206091174	205988745	TAACTAAA others(134): Show TAACTAAAATAAAATAAAATAAATAAAATAAAATAAAATAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAATAAAAT AAAATAAATAAAATAAATAAAATAAATAAAATAAATAAAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	334	0.0030	-141	c.15 others(13): Show c.15482_*15622del		INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding					4975		chr2	TogoVar
INSR_chr19_7107265_7299414	7180193	TACACTCA others(134): Show TACACTCACAAAGCTTATCATCTGGTTGGGGAGAGTGAATAAATTGACAA CAAAGGCTAGGTACAGTGGCTCAGGCCCTGTAATCTCAGCACTTTGGGAA GCCAAGGTGGGAGGATCACTTAAACCCAGGAGTTCAAGACGA	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	300	0.0033	-141	c.974 others(17): Show c.974+3982_974+4122del		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	3/21						chr19	TogoVar
IPO11_chr5_62407763_62633582	62598403	TCTTTCTT others(134): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0010 a0001c0006t0010g0010	1	330	0.0030	-141	c.267 others(19): Show c.2679-3360_2679-3220del		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29						chr5	TogoVar
IQCE_chr7_2553979_2619728	2583767	AGGGCGGG others(134): Show AGGGCGGGCACCGAGCTGGGCGGCGGGGCGGAGGGCGGGCACCGTGCTGG GCGGCGGGGCGGGCACCGAGCTGGGCGGCGGGGCGGAGGGCGGGCACCGT GCTGGGTGGCGGGGCGGAGGGCGGGCACCGTGCTGGGCGGCG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0411 a0001c0001t0001g0411	1	416	0.0024	-141	c.774 others(14): Show c.774+89_774+229del		IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr7	TogoVar
KLK7_chr19_50971468_50988917	50982968	CCTCCCTC others(134): Show CCTCCCTCAGACCTAGGAGTCCAGGTCCAAGTCCCTCCTCCCTCAGGCTC AGGAGTCCAGGCCCCAACCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	384	0.0026	-141	c.-58 others(15): Show c.-58-652_-58-512del		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5						chr19	TogoVar
KRTAP10-11_chr21_44641414_44652650	44646960	TGCTGCCA others(134): Show TGCTGCCAGCAGTCTAGCTGCCAGCCAGCTTGCTGCACCTCCTCCTCCTA CCAGCAGGCCTGCTGCGTGCCTGTCTGCTGCAAGACTGTCTACTGCAAGC CCATCTGCTGTGTGCCTGTCTGCTCTAGGGCTTCCTCTTCAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03225.hp1 HG03225.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0001 a0014c0025t0001	a0014c0025t0001g0000 a0014c0025t0001g0000	1	422	0.0024	-141	c.514 others(7): Show c.514_654del	p.Ser others(13): Show p.Ser172_Gln218del	KRTAP10-11	ENSG00000243489.4	transcript	ENST00000334670.9	protein_coding	1/1	559/1237	514/897	172/298		INFO_REALIGN_3_PRIME	chr21	TogoVar
LAPTM4A_chr2_20027650_20056628	20043077	CTTTTTTT others(134): Show CTTTTTTTTTTTTTGAGACCAAGCCTTGCTCTGTCACCCAAGCTGGAGTG CAGTGGCGCAATCTCAGCTCACTGCAGCTTCCACCTCTTGGGTTCAAGCA ATTCTCACACCTCAGCCTCCCAAGTAGCTGGGACCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18943.hp1 NA18951.hp2 others(1): Show HG02698.hp2 NA18943.hp1 NA18951.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129	4	424	0.0094	-141	c.112 others(17): Show c.112-2207_112-2067del		LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6						chr2	TogoVar
LIPG_chr18_49557057_49604185	49579058	GAGAGGGA others(134): Show GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0338 a0001c0001t0053g0338	1	384	0.0026	-141	c.794 others(17): Show c.794-2356_794-2216del		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9						chr18	TogoVar

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