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
LAMC1_chr1_183018420_183150592	183149619	TCACATCC others(438): Show TCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCA CACACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCC TCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACC ACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTC CTCACACACCAGACAGCTCACACCCCTCTCCTCCTCACACACCACACAGC TCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGC TCACACACCACACAGCTCACACCCCACCCCTCTCCTGCTCACACACCACA CAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTC ACACACCAGACAGCTCACACCCCTCCTCCTCACACACCACACAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0143 a0002c0001t0001g0143	1	273	0.0037	-445	c.68 others(11): Show c.6830_*7274del	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4028		chr1	TogoVar
NEU4_chr2_241804193_241822413	241807504	ACCCAGGG others(438): Show ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0013 a0001c0019t0001g0013	1	186	0.0054	-445	c.-17 others(11): Show c.-1773_-1329del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1688		chr2	TogoVar
NEXMIF_chrX_74727856_74930452	74853086	TTGTCACA others(438): Show TTGTCACAGTTGAGAAAGAATTCAAGACATGGACACACACAAGGAGTGGA TTTAGGAGCGGAAAGTTTAATAGAAAAAGAAGAAAGAGAAAAAAAGCTTC CTCATGCTGAAAAAGTGGGTCGCCCAAAAGAGGGTCTCTAGTTTGTGGCA AAACATAATCGGTTTTGTACAGAGGCTTGAGGAGGCAGTGATTGATTTAC ATAGGGCTCAGGGGATTGGGTTTACCAGGTGTGCCATTTACATAGCTTGC AAAAAGACTGGCCCTCTGACCCTAGTCTTTTATTATGCAAATGCGGCCTC CACCTGGTGGAGGCCATGATGCCTGTACACACGGTTTTACCTGGAGGCTG CCATGATACCCATTAACATAGTGACAAGCAAAAGAGGATGGGAGATGCCA CATTGAATGTACCTGGCTTCCAGGTACAGCTGCCATCATTTACATA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0017 a0001c0001t0019g0017	1	222	0.0045	-445	c.-48 others(19): Show c.-48+71352_-48+71796del	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar
SORCS2_chr4_7187538_7747827	7363580	CATCACCA others(438): Show CATCACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAACC ATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGTATCACCATT ACCATCACCGTCACCATAACCATGCCTCACCATCATCATCACCATCACCA CCATTGTGGTGTATCACCATTACCATCACCGTCACCATAACCATGCCTCA CCATCATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCAC CGTCACCATAACCATGCCTCACCATCATCATCACCATCACCACCATTGTG GTGTATCACCATTACCATCACCGTCACCATAACCATGCCTCACCATCATC ATCACCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCA TAACCATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02165.hp2 HG02257.hp1 others(5): Show HG02056.hp1 HG02165.hp2 HG02257.hp1 HG02615.hp1 HG02647.hp1 HG02886.hp2 HG02976.hp2 HG03540.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0003 a0001c0005 a0001c0009 others(5): Show a0001c0003 a0001c0005 a0001c0009 a0001c0029 a0002c0004 a0004c0007 a0004c0044 a0012c0039	a0001c0003t0010 a0001c0005t0008 a0001c0009t0037 others(5): Show a0001c0003t0010 a0001c0005t0008 a0001c0009t0037 a0001c0029t0061 a0002c0004t0005 a0004c0007t0001 a0004c0044t0041 a0012c0039t0049	a0001c0003t0010g0021 a0001c0005t0008g0065 a0001c0009t0037g0042 others(5): Show a0001c0003t0010g0021 a0001c0005t0008g0065 a0001c0009t0037g0042 a0001c0029t0061g0162 a0002c0004t0005g0083 a0004c0007t0001g0126 a0004c0044t0041g0016 a0012c0039t0049g0064	8	166	0.0482	-445	c.481 others(19): Show c.481-32700_481-32256del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
TNK2_chr3_195858364_195913551	195874934	TCCCCTCG others(438): Show TCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGA TGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCCCCCTCGGGATGGCG CCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACG CACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCT CCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAG GCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAC GAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACT CCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	368	0.0027	-445	c.125 others(19): Show c.1256+2874_1257-2465del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TNR_chr1_175310194_175748595	175713979	CTCTCTCC others(438): Show CTCTCTCCCTCATGCTGGCCCTGCTCCTTCCTTTGTGCCTTCTCTTTGTC TCTTTTCTCCCTTGTTGATTCTGTTCTCTCTCTATGTGCTGTTCTGTCCT CTGCTTGTATGGTTTCTTCACTCCAATAGCTGCCCTCTCTTTAAAACTCC TGCACCCTTTAGCTCTGGCCCACCTGGGTGCCCTCCTTGGCATCTTTCTC TTCCCACTCCCTCTGCTGTCCTCAGATCTCCTTCTACCCATCACGCCCCT CTTCCACACCCATGCTTTCTGCCTTCCCATATCTGGCCTCAGATGGCACC AGAAGCCAAATTTCTAGTGACGGAAAGCCCATTGTTGCCTGATGAAGGCA GATGATATAAATGAGGCAATTGCTTCAATACATAATTAAAATAAGCCAAA TGAAGCAGCAGCAAAACAAGACAGATTCATGGTTTGGAGATCTAAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0101 a0001c0032t0001g0101	1	130	0.0077	-445	c.-16 others(21): Show c.-165+28802_-165+29246del	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133292017	ATGTCCCT others(438): Show ATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATG TCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGT GTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCT CCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCATGCACACTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18969.hp2 HG04228.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0144 a0001c0015t0001g0030 a0001c0001t0001g0144 a0001c0015t0001g0030	2	261	0.0077	-445	c.121 others(16): Show c.1214+37_1214+481del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393533	TGGGGGCA others(438): Show TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02257.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0009 a0001c0006t0028 a0001c0001t0009 a0001c0006t0028	a0001c0001t0009g0020 a0001c0006t0028g0280 a0001c0001t0009g0020 a0001c0006t0028g0280	2	344	0.0058	-445	c.181 others(21): Show c.1811-13675_1811-13231del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABR_chr17_998519_1184981	1131314	CCTTTGCA others(437): Show CCTTTGCACACCAAATGCAGTGCCTGACACGCACACAGCTCCCCCCTTTG CACACCAAATGCAGTGCCTGACACGCACACAGCTCCCCCCTTTGCACACC AAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCTCTTTGCACACCAAAT GCAGTGCCTGCCACGCGCACAGCTCCCCCCTTTGCACACCAAATGCAGTG CCTGCCACGCGCACAGCTCCCCCTCTTTGCACACCAAATGCAGTGCCTGC CACGCACACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGACACGCA CACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGACACGCACACAGC TCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCC TTTGCACACCAAATGCAGTGCCTGCCACGCGCAGAGCTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02922.hp1 HG01243.hp2 HG02258.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0029 a0001c0001t0005 a0001c0001t0014 a0001c0001t0029	a0001c0001t0005g0280 a0001c0001t0014g0243 a0001c0001t0029g0115 a0001c0001t0005g0280 a0001c0001t0014g0243 a0001c0001t0029g0115	3	336	0.0089	-444	c.62- others(15): Show c.62-6391_62-5948del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ATP10A_chr15_25673712_25868327	25758320	CCACCTGC others(437): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGATCCACCCTAACTCA TTCCAATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTC CACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTATCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGC TCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01934.hp2 HG00738.hp1 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0096 a0003c0003t0001g0140 a0003c0003t0001g0096 a0003c0003t0001g0140	2	223	0.0090	-444	c.654 others(19): Show c.654+22255_655-22180del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B4GALNT3_chr12_454939_568509	511958	CACCTTCC others(437): Show CACCTTCCACCTTCCGCCTTCCGCATTCCGCCTTCCATCTTCCTTCCACC TTCCACCTTCCGCCTTCCACCTTCTACCTTCTGCCTTCCACCTTCGACCT TCTTCCACCTTCAACCTTCCACCTTCGACCTTCCACCTTCCACCTTCCAC CTTCTTCCACCTTCGAGCTTCCACCTTCCACCTTCCACCTTCCGCCTTCC GCCTTCCACCTTCCGCCTTCCGCCTTCCACCTTCCGCCTTCCACCTTCCA CCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACC TTCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCAC CTTCTTCCACCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCCGCC TTCGACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp1 HG01891.hp1 others(6): Show HG01167.hp1 HG01496.hp1 HG01891.hp1 HG02717.hp1 HG03486.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0011 a0012	a0001c0001 a0003c0004 a0005c0006 others(2): Show a0001c0001 a0003c0004 a0005c0006 a0011c0015 a0012c0022	a0001c0001t0016 a0001c0001t0028 a0001c0001t0087 others(5): Show a0001c0001t0016 a0001c0001t0028 a0001c0001t0087 a0003c0004t0002 a0005c0006t0001 a0005c0006t0002 a0011c0015t0013 a0012c0022t0010	a0001c0001t0016g0179 a0001c0001t0028g0048 a0001c0001t0087g0190 others(6): Show a0001c0001t0016g0179 a0001c0001t0028g0048 a0001c0001t0087g0190 a0003c0004t0002g0197 a0003c0004t0002g0297 a0005c0006t0001g0304 a0005c0006t0002g0195 a0011c0015t0013g0280 a0012c0022t0010g0192	9	392	0.0230	-444	c.170 others(19): Show c.170-23184_170-22741del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1815258	TTCATCCA others(437): Show TTCATCCAGAAACACTTCACCTCTCAAACATGTTAAGCTCATTCTCACCC CAGGGCATTTGTACCAGCTGTTCTCTCCTCCTGGAATGCCCTTCCCCTAG AACTTTACATGGCTGGCTCCTTCCCATCGTCAGGTCTCAGCCCAATATCA TCTCCTAGAGTGGCTGTCCCTGGCCTCCCGAGATAAAGCCAGCCAGGGGG ACCTCCCTCACTTTCACTCTCTACCTTATTACTTTTTAAATTTTCTAAGT GACATGATTTGTTCATCTATTTGATTTCTCATTTATTGTCTGTCTGGGGC TAATAGCAGGCAGGGGATTGAGTTTTGATCCCCAGCACCTAGAATCGTAC CTATCACAGTGTGACTCCATAAATTTTTCTTGAGCTACGTAAGCAAATTC AATTTGAGCCAGCCACTTGACGGGGAAGCCGAATTCTACCAGGTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01952.hp2 others(11): Show HG01074.hp2 HG01109.hp2 HG01952.hp2 HG02280.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA19240.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0011 a0014 a0017	a0001c0001 a0001c0003 a0001c0009 others(7): Show a0001c0001 a0001c0003 a0001c0009 a0001c0019 a0001c0049 a0004c0021 a0006c0036 a0011c0026 a0014c0020 a0017c0030	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0003t0001 a0001c0009t0001 a0001c0019t0001 a0001c0049t0006 a0004c0021t0001 a0006c0036t0013 a0011c0026t0021 a0014c0020t0006 a0017c0030t0001	a0001c0001t0001g0114 a0001c0001t0001g0151 a0001c0001t0001g0166 others(11): Show a0001c0001t0001g0114 a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0006g0152 a0001c0001t0010g0149 a0001c0003t0001g0066 a0001c0009t0001g0148 a0001c0019t0001g0290 a0001c0049t0006g0301 a0004c0021t0001g0013 a0006c0036t0013g0205 a0011c0026t0021g0188 a0014c0020t0006g0012 a0017c0030t0001g0225	14	316	0.0443	-444	c.255 others(19): Show c.2552-3979_2552-3536del	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	26/37			chr12	TogoVar
CCDC77_chr12_396644_447642	421013	TACACATA others(437): Show TACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	363	0.0028	-444	c.413 others(17): Show c.413+2392_413+2835del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDH4_chr20_61247261_61945617	61945173	ATGAGGAG others(437): Show ATGAGGAGCATCGCGGCTGTCTGCACCATGGGAGCCCCTTCTCACTGACA ATGAGGAGCATTCAGAGTGTCTACACCGTGGCCACGCCTTCTCACCGATG CTGAGGAGCACCGAGACTGTCTGCACTGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCATCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTTCTCACTGACG ATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCTTTCTGACTGATG ATAAGGAACATTGCGACTGTCTGCACCGTGGCTGCCCCTTCTCACCAACG CTGAGGAGCACTGCAACCATCTGCACCGTGGCCGCCCCTTCTCACCGATG ATGAGGAACATTGAGACTGTCTGCCCCGTGGCTGCCCCTTCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02723.hp1 HG03130.hp1 others(1): Show HG01255.hp1 HG02723.hp1 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0013 a0001c0020 a0001c0006 a0001c0013 a0001c0020	a0001c0006t0006 a0001c0006t0026 a0001c0013t0006 others(1): Show a0001c0006t0006 a0001c0006t0026 a0001c0013t0006 a0001c0020t0006	a0001c0006t0006g0036 a0001c0006t0026g0034 a0001c0013t0006g0035 others(1): Show a0001c0006t0006g0036 a0001c0006t0026g0034 a0001c0013t0006g0035 a0001c0020t0006g0093	4	104	0.0385	-444	c.82 others(11): Show c.8231_*8674del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4557		chr20	TogoVar
CHST15_chr10_124002668_124098598	124034558	CAGGGACC others(437): Show CAGGGACCCTGGCTTCATCCCCTAACAGGGACCCTGGCTCCACCCCCTAA CAGGGACCCTGGCTTCACCCCTGATAGGTACCCTGGCTCCACCCCTAACA GGGACCCCGGCTCTACCCCCTAACAGGGACCCCGGCTCCACCCCCTAACA GGGACCCCGGCTCCACCCCCTAACAGGGACCCCGGCTCCACCCCCTAACA GGGACGCCGGCTCCACCCCCTAACAGGGACGCCGGCTCCGCCCCTAACGG GGACCCCGGCTCCGCCCCCTAACGGGGACCCTGGTTCTACCCCTAACAGG GACCCTGGCTCTACTCCCTAACAGGGACCCTGGCTCTACCCCTGATAGGT ACCCTGGCTTCATCCCCTAACAGGGACCCTGGCTCCACCCCTAACAGGGA CCCTGGCTCTACCCCCTAATAGGGACCCTGGCTCTACCCCCTAAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0373 a0001c0001t0037g0373	1	390	0.0026	-444	c.119 others(19): Show c.1190+3513_1190+3956del	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CSMD1_chr8_2930361_4999914	3795631	TCATGTAT others(437): Show TCATGTATAGATATAGATATATATCTATCATAGATATAGATATATATCTA TCATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTA TCATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCAT GTACAGATATAGATATATACCTATCATGTACAGATATAGATATATATCTA TCATGTACAGATATAGATATATATCTATCATGTACAGATATAGATATATA TCTATCATGTACAGATATATATATCATGTACAGATATAGATATCTATCAT GTACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTAC AGATATAGATATATATCTATCATGTATATAGATATATATCATGTATAGAT ATAGATATATATCTATCATAGATATAGATATATATCTATCATAGA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0111 a0001c0111	a0001c0111t0045 a0001c0111t0045	a0001c0111t0045g0063 a0001c0111t0045g0063	1	119	0.0084	-444	c.819 others(19): Show c.819-42033_819-41590del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DHRSX_chrX_2214506_2505976	2276878	GGAGGAAA others(437): Show GGAGGAAATAGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGG GGGAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGGAGGAGAGGGAGGAAATAGGGGGAAAGAGAG AAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGA GGGAGAGAGAAGGAAGAGGAGGAAATAGGGGAAAGAGAGAAAGAGAGATG GAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAA GGAAGAGGAGGAAATGGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACA GGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	48	0.0208	-444	c.389 others(18): Show c.389-10375_389-9932del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DLGAP2_chr8_732628_1713476	1247172	GTGATGGC others(437): Show GTGATGGCCCACGTCGGTGGCTGGGAAGACCTTTGAGATCAGTGTGGAGT GATGGTCCACGTCGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGGAGTG AGATGGTCCACATCGGTGGCTGGGAAGACCATTGAGATCAGTGTGGGAGT GATGGTCCACATCGGTGGCCAGCAAGACCTTTGACATCAGTGTGGGAGTG ATGGTCCATGTTGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGGAGTAA TGGCCCATGTTGGTGGCCGGCAAGACCTTTGAGATCAGTGTGGGAGTGAT GGTCCATGTTGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGGAGTAATG GCCCATGTTGGTGGCCGGCAAGACCTTTGAGATCAGTGTGGGAGTGATGG CCCACATCGGTGGCCGGGAAGACCTTTGAGATCAGTGTGTGAGTC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp2 NA20300.hp2 HG02895.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0001 a0001c0002t0006 a0001c0003t0001	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027	3	40	0.0750	-444	c.74- others(17): Show c.74-11672_74-11229del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566634	TCTGTCTG others(437): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	331	0.0030	-444	c.641 others(17): Show c.641-1924_641-1481del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567454	TGGGTGAC others(437): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18945.hp2 NA19065.hp2 HG01243.hp2 NA18945.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0188 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0188	3	210	0.0143	-444	c.641 others(17): Show c.641-2744_641-2301del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EXOC2_chr6_480154_698139	601930	CCACACAC others(437): Show CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTCTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	265	0.0038	-444	c.743 others(17): Show c.743-3149_743-2706del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261580	GCCCTCCA others(437): Show GCCCTCCAGGTGATTCTGATGTGTTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATT CTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCA AGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCC TCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCT GATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAG CGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0002 a0003c0024t0002	a0003c0024t0002g0071 a0003c0024t0002g0071	1	188	0.0053	-444	c.571 others(17): Show c.571+4534_571+4977del	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FOXN3_chr14_89151177_89422233	89362248	TCCAGCAC others(437): Show TCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCAC CACCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCA CCACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCC AGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAG CACCAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCA TCTCCACCACCACCACCACCATCTCTACGACCACCACCACCACCATCTCC ACCACCACCTCCACCACCACCACCACCACCATCTCTACGACCACCACCAC CACCACCATCTCTACGACCACCACCACCTCCACCACCATCTCCACCACCA CCACCACCATCTCCACCACCACCTCCACCACCATCTCCACCACCA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0056 a0001c0001t0009g0056	1	192	0.0052	-444	c.544 others(19): Show c.544-11884_544-11441del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRYL_chr4_48492357_48785279	48659484	GGGAGAAG others(437): Show GGGAGAAGAAGAAGAGGGAGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	248	0.0040	-444	c.-81 others(19): Show c.-81+24745_-80-24995del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
GIPC1_chr19_14472762_14501127	14487394	GGCTAATT others(437): Show GGCTAATTTTTTTTGTGTTTTTAGTAGAGACGGAGTTTCACTACGTTGGC CAGGCTGGTCTCGAACTCCTGACCTCGTGATTCGCTCGCCTCAGCCTCCC AAAGTGCTGGGATTACAGGCATGAGTCACTGCACCCGGCCGAAGAGATGT CTTTCTAATTCACTCACAGATGCTATATAGGCTAGCTGGGGCTCTGCACA TGACCTCCAGAAGTGGACAGTCCGGAAGAGGAAATGCACAGGGAGCAGGG AAATGTGTAAATGTCTAATATAAATTTTTTCCTTTATTTTCCTTTTTTTT TTTGACAGAGTCTTGCTGTGTTGCCAAGGCTGAGGTGCAGTGGTGCAATC AGAGCTCACTGCACCCTTGCCCTCCTGGGCTCAAGTGATCCTCCCGCCCC AGCCTCTTGAGTAGCTGGGACCACAGGTGCTTGCCACCATGCCCT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0104 a0001c0002t0034g0104	1	438	0.0023	-444	c.-31 others(17): Show c.-31+3818_-31+4261del	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GRTP1_chr13_113319163_113369130	113346621	CGGGAGGA others(437): Show CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAG AGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTC TGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAG CAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	275	0.0036	-444	c.466 others(17): Show c.466-2106_466-1663del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346639	TGAGAGCG others(437): Show TGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACC TCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAA AGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACC TCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	236	0.0042	-444	c.466 others(17): Show c.466-2124_466-1681del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347245	TGGGAGGA others(437): Show TGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCG GGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAG AGCAGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTC TGTGGCCGAGAGCGGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGG AGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAA CAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCTGAGCAGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01516.hp2 HG01517.hp1 others(7): Show HG00558.hp2 HG01516.hp2 HG01517.hp1 HG02572.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03579.hp2 NA18946.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0006c0006t0005	a0001c0001t0001g0157 a0001c0001t0001g0176 a0001c0001t0001g0239 others(7): Show a0001c0001t0001g0157 a0001c0001t0001g0176 a0001c0001t0001g0239 a0001c0001t0001g0258 a0001c0001t0001g0274 a0001c0001t0002g0006 a0001c0001t0002g0190 a0001c0001t0003g0168 a0001c0001t0003g0173 a0006c0006t0005g0252	10	126	0.0794	-444	c.466 others(17): Show c.466-2730_466-2287del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347381	CGAGAGCA others(437): Show CGAGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGA CCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTCTGTGGCCGAGAGCAGA CCTGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGCACCTCTGTGGC TGAGCGGATCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACC TCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC TGGGAGGACCTCTGTGGCTGAGCAGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCG GGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	264	0.0038	-444	c.466 others(17): Show c.466-2866_466-2423del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
MLPH_chr2_237482251_237560322	237544719	GGGCACGG others(437): Show GGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGT GGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGG TGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTG GTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTA TTGGTAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGAC CAGTGTTGAGTGGGGGAATAGTTATGAGTGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	284	0.0035	-444	c.154 others(19): Show c.1540-1884_1540-1441del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
P2RX5_chr17_3668227_3701155	3685920	CCCGCCCA others(437): Show CCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTG AGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0237 a0002c0002t0001g0237	1	360	0.0028	-444	c.981 others(17): Show c.981+1648_981+2091del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799139	GTGGTGAC others(437): Show GTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGG TAGTGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0106 a0001c0001t0054g0106	1	167	0.0060	-444	c.185 others(19): Show c.1855-4728_1855-4285del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114006130	TGCCACCT others(437): Show TGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCT TCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTG CCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACC ACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTC CCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCC CTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCC ACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTC CCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCT GCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0053 a0003c0006t0002g0053	1	54	0.0185	-444	c.174 others(18): Show c.1742+959_1742+1402del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
SDHA_chr5_213320_262082	259201	AGCTCCGC others(437): Show AGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGC CTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTAC CGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCC TGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	259	0.0039	-444	c.27 others(11): Show c.2782_*3225del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2120		chr5	TogoVar
SNTG2_chr2_945849_1372613	1014202	GAGAAGGA others(437): Show GAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGA AGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGA GAGGGATTTATAAGGACAGAGAGAAGGGTGGTCTGGAAAGTGATTTACAA GGGTAGAGAGAAGGGTGCTCTGGAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGTAGAGGGATTTATAAGGACAGAGAGAAGGGTGGTCTGGAGA GGGATTTATATGGGCAGAAAGAAGGGTGGTCTGGAGAAGGATTTATATGG GCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGG TGGTCTGGAGAGGGATTTATAAGGACAGAGAGAAGGGTGGTCTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0005 a0007c0016t0001g0005	1	178	0.0056	-444	c.72+ others(17): Show c.72+63138_72+63581del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TAFA5_chr22_48484553_48756932	48736028	TCGCACTC others(437): Show TCGCACTCCTAGGGTCCCTCCCCCCAGGAGGAATGAGAATCGCACTCCTA GAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATCCC CCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCAGAGTCCATACCCCCC AGGAGGAATGAGAATCACACTCCTGGAGTCCAGAGTCCATCCCCCCAGGA GGAATGAGAATCGCACTCCTAGGGTCCCTCCCCGCAGGAGGAATGAGAAT CGCACTCCTAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAG AGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATCCCC CCAGGAGGAGTGAGAATCGCACTCCTAGAGTCCATCCCCCCAGGAGGAAT GAGAATCGCACTCCTAGGGTCCATCCCCCCAGGAGGAATGAGAAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	256	0.0039	-444	c.391 others(19): Show c.391-13794_391-13351del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133292031	CCCTCCGT others(437): Show CCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCC CTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCC GTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCG TGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCC CTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCC TCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACA CTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03098.hp2 HG03486.hp1 others(3): Show HG02056.hp1 HG03098.hp2 HG03486.hp1 NA18944.hp2 NA18963.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0159 a0001c0001t0001g0160 a0002c0003t0002g0081 others(3): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0002c0003t0002g0081 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0091	6	282	0.0213	-444	c.121 others(16): Show c.1214+24_1214+467del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
YBEY_chr21_46281342_46302751	46292601	CGTGCCCG others(437): Show CGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACA CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	402	0.0025	-444	c.339 others(17): Show c.339+1232_339+1675del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293806	ACAGCCAC others(437): Show ACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCT GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	272	0.0037	-444	c.340 others(17): Show c.340-2284_340-1841del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF516_chr18_76352682_76500242	76393789	GGGGAAGG others(437): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01928.hp2 HG01993.hp2 others(1): Show HG01123.hp1 HG01928.hp2 HG01993.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0019 a0001c0002t0120 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0120 a0001c0002t0125	a0001c0001t0001g0089 a0001c0001t0019g0088 a0001c0002t0120g0083 others(1): Show a0001c0001t0001g0089 a0001c0001t0019g0088 a0001c0002t0120g0083 a0001c0002t0125g0095	4	340	0.0118	-444	c.181 others(21): Show c.1811-13930_1811-13487del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393844	GGGTGGTC others(437): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0083 a0002c0022t0083	a0002c0022t0083g0072 a0002c0022t0083g0072	1	311	0.0032	-444	c.181 others(21): Show c.1811-13985_1811-13542del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ARHGAP20_chr11_110572043_110717437	110618783	CAGTGATA others(436): Show CAGTGATAGAGTGTATGCAGTGATAGAGTGTATGCAGTGATAGAGTATAT GCAGTGATAGCATATATGTAGAGTGTATGCAGTGATAGAGTATATGCAGT GATAGAGTATATGCAGTGGTAGAGTATATGCAGTGATAGAGTATATGCAG TGATAGAGTATATGCAGTGAGAGTGTATGCAGTGATAGAGTATATGCAGT GATAGCATATATGTAGTGATAGAGTGTATGCAGTGATAGAGTGTATGCAG TGATAGAGTGTATGCAGTGATAGAGTATATGCAGTGATAGCATATATGTA GAGTGTATGCAGTGATAGAGTATATGCAGTGATAGAGTATATGCAGTGGT AGAGTATATGCAGTGATAGAGTATATGCAGTGATAGAGTATATGCAGTGA GAGTGTATGCAGTGATAGAGTATATGCAGTGATAGCATATATGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG02809.hp2 others(5): Show HG02145.hp2 HG02647.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp2 HG03098.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0012 others(4): Show a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0095 a0001c0001t0004g0141	8	224	0.0357	-443	c.504 others(17): Show c.504-3632_504-3190del	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding	4/14			chr11	TogoVar
CCDC77_chr12_396644_447642	421680	CACATAGC others(436): Show CACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	C C	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	430	0.0023	-443	c.413 others(17): Show c.413+3048_413+3490del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
DHRSX_chrX_2214506_2505976	2278813	CGAGAGGG others(436): Show CGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGA GGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGA GGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGA GAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGG GGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAG GGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAG AGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	40	0.0250	-443	c.388 others(19): Show c.388+12246_389-11867del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
EXOC3L4_chr14_103089725_103115559	103109246	TCTCCCTC others(436): Show TCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCT CTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCC TCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCA CCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp1 HG02055.hp2 others(10): Show HG01167.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG03098.hp1 HG03471.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0013	a0001c0003 a0001c0005 a0003c0007 others(2): Show a0001c0003 a0001c0005 a0003c0007 a0006c0033 a0013c0029	a0001c0003t0002 a0001c0005t0001 a0003c0007t0001 others(2): Show a0001c0003t0002 a0001c0005t0001 a0003c0007t0001 a0006c0033t0001 a0013c0029t0001	a0001c0003t0002g0017 a0001c0005t0001g0007 a0001c0005t0001g0061 others(6): Show a0001c0003t0002g0017 a0001c0005t0001g0007 a0001c0005t0001g0061 a0001c0005t0001g0114 a0001c0005t0001g0120 a0001c0005t0001g0268 a0003c0007t0001g0009 a0006c0033t0001g0264 a0013c0029t0001g0043	13	399	0.0326	-443	c.197 others(17): Show c.1976+741_1977-331del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805898	CTCCCTCC others(436): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	296	0.0034	-443	c.17 others(11): Show c.1733_*2175del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1612		chr2	TogoVar
HEATR6_chr17_60036008_60083921	60042394	CGTCCTGT others(436): Show CGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGC TGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGT CAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCG TCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGCTG TGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCA GCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTC CTGTGTGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGCTGTG AGGCACCGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTCAGC ATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00738.hp1 others(14): Show HG00408.hp2 HG00642.hp1 HG00738.hp1 HG01168.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp2 HG03225.hp2 HG03831.hp2 NA18747.hp2 NA18947.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0013 a0009c0011 a0001c0001 a0001c0013 a0009c0011	a0001c0001t0003 a0001c0001t0021 a0001c0013t0003 others(1): Show a0001c0001t0003 a0001c0001t0021 a0001c0013t0003 a0009c0011t0003	a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0017 others(9): Show a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0074 a0001c0001t0003g0125 a0001c0001t0021g0062 a0001c0013t0003g0061 a0009c0011t0003g0071	17	248	0.0685	-443	c.72 others(10): Show c.726_*1168del	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	726		chr17	TogoVar
LRRC27_chr10_132327193_132386508	132351969	TGAGGCCT others(436): Show TGAGGCCTCCGTGTGGGGCAGGCGCAGGTGCAGCGCTCCGTGTGGGGCAG GCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAG GCGCAGGTGCAGCGCTCCGTGTGGGGCAGATGCTGAGGCCTCCGTGTGGG GCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGG GCAGGCGCTGAGGCCTCCGTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGG GCAGGTGCAGCGCTCGTGGTCTGCAGGGCGTTGCGTGCATGGGCTCCCTT GTTTGTAGCCCCGAGGCCTCCGGGTGGGGCAGGCGCAGGTGCAGCGCTCC GTGTGGGGCAGGCGCTGAGGCCTCCGTGTGGGGCAGGTGCAGCGCTCGTG GTCTGCAGGGCGTTGCGTGCATGGGCTCCCTTGTTTGTAGCCCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0247 a0001c0002t0016g0247	1	288	0.0035	-443	c.107 others(17): Show c.1073+424_1073+866del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
NEU4_chr2_241804193_241822413	241805898	CTCCCTCC others(436): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0189 a0008c0014t0003g0189	1	300	0.0033	-443	c.-33 others(11): Show c.-3379_-2937del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3294		chr2	TogoVar
PDE11A_chr2_177618244_178077777	177946128	AGCCGCCC others(436): Show AGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCCGGGAAGGAGGTGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01175.hp1 HG01361.hp1 others(5): Show HG01071.hp1 HG01175.hp1 HG01361.hp1 HG02738.hp2 HG03490.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0002 a0006c0013 others(1): Show a0001c0001 a0002c0002 a0006c0013 a0008c0022	a0001c0001t0033 a0002c0002t0001 a0002c0002t0004 others(4): Show a0001c0001t0033 a0002c0002t0001 a0002c0002t0004 a0002c0002t0044 a0006c0013t0001 a0006c0013t0038 a0008c0022t0019	a0001c0001t0033g0072 a0002c0002t0001g0071 a0002c0002t0001g0073 others(5): Show a0001c0001t0033g0072 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0004g0077 a0002c0002t0044g0074 a0006c0013t0001g0068 a0006c0013t0038g0104 a0008c0022t0019g0069	8	168	0.0476	-443	c.107 others(21): Show c.1072-41384_1072-40942del	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar

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