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
NKD2_chr5_1003802_1043943	1023505	GTTGTCTC others(731): Show GTTGTCTCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCATTGCCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTG TCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTC TTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGC GTCCCAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCC CATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCTTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCC CACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTG TGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCT CAGCCCATTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCCCAGCCCATT GTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	143	0.0070	-738	c.142 others(17): Show c.142-8641_142-7904del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
OSBPL6_chr2_178189512_178407893	178252409	AAAACTTT others(731): Show AAAACTTTTATTGTAAAATAAGCAGAGGGCTGGATTTGGCCCACAGACCA TATTTTGTGGCCATAATTAGCATAATTGCCCAAACCAAAACATTTAAACC GGGGAAGATGAATTGGGTAAAACAAAAAAAATAGGAGACTTTCTCATATG GTCAGGGTTCAAACTCAGATTTTGCAGAGGAGGTCAGTGGTCTTTGTTAA ACATATATGATTGTATCAGATGCTGATCTACATCACAGATAACAAGATTA GCTTACTTGAGGCCACTAGGATAAAACCAAATTTAGATAGGCAGATAGAT GTAAATCCTTACAATTAATGCTAATACTTCTAGACTGTCTTTGGTCAGCA TGAGTTAGATGTCTGCTGTTCTTTCCTTCCTGGCTTGATGAAATAACTTC ATGATACAACCCCATTTTAGAATTATTTGGGATCTTCCACTAAAATAGTA TGATCTTTTGGCAAGTAATACGTTAGGGATCACTACATGTAGTCATGGCT CCTGGTGTGGTTGGTATAAGGGACCACTGTTTTCTCTGCCGCTCTTGGAC ATCCCCTACAGAGTGGACTAGACAGAATCTATAGAAGGAGAACATTCAAA CCACTGTATTTTATTTATTTATTTATTTTTGAGAAGGAGTTTCATTCTTG TTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCCA CCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCTG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0086 a0001c0004t0086	a0001c0004t0086g0092 a0001c0004t0086g0092	1	198	0.0051	-738	c.-35 others(21): Show c.-350-32516_-350-31779del	OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCGF3_chr4_700832_775089	745440	CCGGGGGT others(731): Show CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGT CGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0014	1	364	0.0027	-738	c.462 others(16): Show c.462+754_462+1491del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745838	CCCGGGGG others(731): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0009 a0002c0002t0045g0009	1	362	0.0028	-738	c.462 others(17): Show c.462+1153_462+1890del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746412	GGGGTCGC others(731): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	362	0.0028	-738	c.462 others(17): Show c.462+1728_462+2465del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKG2_chr4_81082375_81220222	81188650	TAAGAAAA others(731): Show TAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACGAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAAAGTATAATAATAATAATAAAAAAAGAAAAAAAAA AGATTAAAAAAAATAATAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCTA GCAATTGCACAATGTTTCAGTAGAGCACCAAGGAAAAATACAGGTTTTTA CCTTAAAGTGACAATTCAAATACTTCTATTTCTAATTACATATCTGTCTT ATTGTTTTGCCATCTAAATTTTTATCCTGTAGCATAAAGCATTTAAAATG TCGTTTCTGTATGTTCTGGCCCCATCCCTAGAATGAGTTCTTTCTGAAGA GAAAGATTTTGTCTTATTTAATCTTTTTGTCTTATTTTATTATTGCTACA TCTTCAGAAATAATAAAAATGTCAACACACACAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(119): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18971.hp1 NA18973.hp1 NA18991.hp2 NA18997.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19085.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017	a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0050 others(117): Show a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0167 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0133 a0001c0001t0002g0175 a0001c0001t0002g0185 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0003g0011 a0001c0001t0003g0019 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0224 a0001c0001t0003g0245 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0184 a0001c0001t0004g0191 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0226 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0005g0008 a0001c0001t0005g0028 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0081 a0001c0001t0005g0208 a0001c0001t0005g0210 a0001c0001t0006g0197 a0001c0001t0006g0205 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0007g0076 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0001t0009g0228 a0001c0001t0009g0229 a0001c0001t0010g0217 a0001c0001t0010g0218 a0001c0001t0012g0232 a0001c0001t0015g0244 a0001c0001t0017g0187	122	248	0.4919	-738	c.462 others(19): Show c.462-14429_462-13692del	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	2/18			chr4	TogoVar
SHOX_chrX_625791_656584	647276	AGCCTCCC others(731): Show AGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCC TCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTT CTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATT ACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAG ACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAG GCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCC GAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGG TATTTTTAGTACAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAG GCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAG GGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCT GGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02451.hp2 others(6): Show HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG03195.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0026 a0001c0001t0152 others(5): Show a0001c0001t0025 a0001c0001t0026 a0001c0001t0152 a0001c0001t0153 a0001c0001t0155 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163	a0001c0001t0025g0117 a0001c0001t0025g0158 a0001c0001t0026g0081 others(6): Show a0001c0001t0025g0117 a0001c0001t0025g0158 a0001c0001t0026g0081 a0001c0001t0152g0065 a0001c0001t0153g0156 a0001c0001t0155g0008 a0001c0001t0161g0199 a0001c0001t0162g0121 a0001c0001t0163g0083	9	209	0.0431	-738	c.27 others(11): Show c.2722_*3459del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	2722	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	647604	GGCCTCCC others(731): Show GGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCAGGCCTGGGTAACTTTCTGGTATTTTTAGTACAGACAGGGTTTCAGCC TCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTT CTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATT ACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAG ACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAG GCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCT GAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGG TATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACAG GCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTACAGACAG GGTTTCGGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCT GGGTAACTTTCTGGTAGTTTTAGTAGAGACAGGGTTTCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0155 a0001c0001t0039g0155	1	172	0.0058	-738	c.30 others(11): Show c.3018_*3755del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	3018	INFO_REALIGN_3_PRIME	chrX	TogoVar
SNTG2_chr2_945849_1372613	1013149	GAGAGAAG others(731): Show GAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGG TCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGAT TTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGA GAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTC TGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTT ATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGA GAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTG TAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGA AGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGA GAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAT GGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGA GGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGG GCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0042 a0010c0013t0001g0042	1	158	0.0063	-738	c.72+ others(17): Show c.72+62087_72+62824del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TSPAN9_chr12_3072379_3291559	3198150	CCAGCACA others(731): Show CCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACC AGCACAGGTCACCACCAGCACAGGTCACCACCAGCACAGGTCACCACCAG CACAGCTCACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCA CAGGCCACCACCAGCACCATCAGCACAGGCCACCACCAGCACAGCTCACC GTACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACC ACCAGCACAGGTCACACCAGCACAGCTCACCACCAGCACAGGTCACACCA GCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCAGCACA GGCCACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAGCACAGGC CACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCA CACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGCTCACCA CCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGTCACCACC AGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAG CACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCA CAGGTCACACCAGCACAGCTCACCACCAGCACAGGTCACACCAGCACAGG TCACCACCAGCACAGGCCACCACCAGCACAGGTCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02717.hp1 others(2): Show HG01257.hp1 HG01258.hp1 HG02717.hp1 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0071 a0001c0001t0010 a0001c0001t0015 a0001c0001t0071	a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0010g0056 others(2): Show a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0010g0056 a0001c0001t0015g0067 a0001c0001t0071g0117	5	286	0.0175	-738	c.-17 others(17): Show c.-17-3017_-17-2280del	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZNF516_chr18_76352682_76500242	76393283	AGGCAGGT others(731): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02698.hp1 HG03490.hp2 others(2): Show HG00673.hp1 HG02698.hp1 HG03490.hp2 NA18963.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0036 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0036 a0001c0004t0048	a0001c0001t0002g0243 a0001c0001t0002g0253 a0001c0001t0005g0066 others(2): Show a0001c0001t0002g0243 a0001c0001t0002g0253 a0001c0001t0005g0066 a0001c0001t0036g0238 a0001c0004t0048g0218	5	301	0.0166	-738	c.181 others(21): Show c.1811-13718_1811-12981del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393480	GGTCAGGT others(731): Show GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTG GGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp2 HG02886.hp1 others(1): Show HG00639.hp2 HG02145.hp2 HG02886.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0080 a0001c0001t0145 a0001c0002t0001 others(1): Show a0001c0001t0080 a0001c0001t0145 a0001c0002t0001 a0001c0004t0140	a0001c0001t0080g0109 a0001c0001t0145g0018 a0001c0002t0001g0322 others(1): Show a0001c0001t0080g0109 a0001c0001t0145g0018 a0001c0002t0001g0322 a0001c0004t0140g0127	4	340	0.0118	-738	c.181 others(21): Show c.1811-13915_1811-13178del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1014205	ACGGCGCC others(730): Show ACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTG TGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACG ACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGT GTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCT CCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACC AGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCAC TGTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACA GACGACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTG TGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGC CTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCC ACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGA CAGACGGCGCCTCCACTGTGTGAGACCAGGACAGACGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	38	0.0263	-737	c.73+ others(19): Show c.73+106242_73+106978del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ECSCR_chr5_139443560_139467743	139452659	GNNNNNNN others(730): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(362): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(151): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0079 a0002c0002t0001g0141	365	366	0.9973	-737	c.512 others(17): Show c.512+1206_512+1942del	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	8/9			chr5	TogoVar
GALNT9_chr12_132191372_132334589	132223361	ACNNNNNN others(730): Show ACNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00733.hp2 others(10): Show HG00140.hp1 HG00639.hp1 HG00733.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01928.hp2 HG02004.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0027 a0002c0032	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0027t0001 a0002c0032t0002	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0090 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0102 a0001c0003t0001g0137 a0001c0003t0001g0139 a0001c0005t0001g0031 a0001c0007t0001g0103 a0001c0027t0001g0082 a0002c0032t0002g0167	13	161	0.0807	-737	c.107 others(21): Show c.1078-20408_1078-19672del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
RPH3AL_chr17_207389_357807	255015	CGTGACTA others(730): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGA GCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGT CCTGTTCCATCCCTAGGAATGTGACTACCCAACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTG TCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGG GAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	85	0.0118	-737	c.439 others(17): Show c.439-8467_439-7731del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257147	CGTCCCTA others(730): Show CGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGTGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTT CCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGC ACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTT CCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGT GACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTT TCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTG CACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACT TCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATG TGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTT TTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCC GCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACGTAC TTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	129	0.0078	-737	c.439 others(18): Show c.439-10599_439-9863del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
TAF4_chr20_61969798_62070881	62057664	CGGGGGGC others(730): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTC AGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCG GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGG AAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCA GGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAG GACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCC AACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCC ACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGAC GGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAAC CTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACA GACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGA CACAGGTCTACACACCAGGCCACAGACAATGGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG01081.hp2 others(5): Show HG00621.hp2 HG00733.hp1 HG01081.hp2 HG02109.hp1 HG02896.hp1 HG03139.hp2 HG04204.hp2 NA21309.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0006c0011 a0008c0018	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0006c0011t0001 a0008c0018t0001	a0001c0001t0001g0062 a0001c0003t0001g0058 a0001c0003t0001g0117 others(5): Show a0001c0001t0001g0062 a0001c0003t0001g0058 a0001c0003t0001g0117 a0001c0003t0005g0124 a0001c0003t0005g0125 a0001c0004t0001g0179 a0006c0011t0001g0008 a0008c0018t0001g0015	8	236	0.0339	-737	c.136 others(19): Show c.1360+6050_1360+6786del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TUBGCP2_chr10_133273635_133313872	133291738	CCCGTGTC others(730): Show CCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCAT GTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCC TCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCG TGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTG TCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCC CGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGT CCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTG TCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0079 a0006c0014t0001g0079	1	257	0.0039	-737	c.121 others(16): Show c.1214+24_1214+760del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	82975121	GGACTCCA others(729): Show GGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACGAGGGCCC CGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAG AGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCCGGAGG CCACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCC AGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGAC TCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGA CAGAGCCGGACTCCATCCTCCCAGGGGCTGGAGGCCACTTATGGGGAACG AGGGCCCCGGGACAGAGCCGAACTCCATCCTCCCAGGGACCAGAGGCCAC TATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGA CCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCAT CCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAG CCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCC CCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGG GAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCCGGAG GCCACTTATGGGGAAACAGGGCCCCAGGACAGAGCCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03516.hp2 HG02486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0002 a0001c0001t0039	a0001c0001t0002g0134 a0001c0001t0039g0259 a0001c0001t0002g0134 a0001c0001t0039g0259	2	249	0.0080	-736	c.460 others(18): Show c.460-10111_460-9376del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
COPRS_chr17_31846871_31864244	31860896	GACTCTAA others(729): Show GACTCTAATACTCATAGAAATTTAATATATAATAAAGGTAACATCACAAA TCAGCAGAGAGAAACATAACTGCCCAAATAGTGTTGGCAAAATTAACTGC TTGGGGAAAAAGAGTTGTTCTCAGCACCAGGAAGAGCTTCCAAAGCATTT TAAAAACAGACATCACACATACACACACAAAATACCTCTGGGCATCAAAA ATCGCCACAAAAGGTGCCTATAATCCCAGCTACTTGGGAGGCTTTGGCAG GGAGAACTGTTTGAACCTAGGAGGCAGAGGTTGCAGTAAGACCACACCAC TGCACTCCAGCCTGGACCACAGAGCAAGACTCTGTCTCAAAAAAAAAAAA TCACCACAAACAAGGCTGGGGGTAAAATTATTTGCAACAAATGAGAAACA AGATATTAATATTCTGAATATGTTTTTAAAAACTCTGGCCAGGCACAATG GCTCATGCCTATAATACCAGCACTTTGGGAGGTTGAGGTAGGAGGATTGT TTGAGCCCAACTGTTTAAGAGACCAGCCCTGGCAACATAGCAAGACCAGT CTCTACAAAAAAAAATTTAAATTAACCAGGCATGGTGGTGTGCACCTGCA GTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGAAG TTAAGGCTGTAGTGAGCCATGATCACACCACTGCACTCTAGCCTAGGTGA CAAAGCAAGAACTTGTCCAATTTAAAAAAAAAAATTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	-736	c.-24 others(11): Show c.-2433_-1698del	COPRS	ENSG00000172301.11	transcript	ENST00000302362.11	protein_coding		1653		chr17	TogoVar
DPH7_chr9_137549444_137583925	137565512	TCTGTCTG others(729): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	338	0.0030	-736	c.641 others(16): Show c.641-1094_641-359del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EXOC3_chr5_438176_472290	467468	GTCTGACA others(729): Show GTCTGACATCCCCTCAGCCTAGAGGGTGCCTTCCTGATCCCCTCATGTCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACA TCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCC CTCAGCCTAGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCA GCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCT AGAGGGTGCCCTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAT GGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTG CCCTCCTGGTCCCCTCATGTCTGACATCCCCTCAGCCTAGAGGGCGCCCT CCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTG GTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCC CCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTC CTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTAT CTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGA CATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCCTGTCTGACATC CCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA21309.hp2 NA19002.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0136 a0001c0001t0004g0001 a0001c0001t0001g0136 a0001c0001t0004g0001	2	416	0.0048	-736	c.57 others(10): Show c.571_*1306del	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		179		chr5	TogoVar
GALNT9_chr12_132191372_132334589	132303591	GGGCACAC others(729): Show GGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGCCCAG ACACACCCTCGCCTGGGCACACCCTCACCCGGGCACAGCCTCACCCGGGC ACACCCTCACCGGGGCACACCCTCACCCGGGCACACCCTCACCCAGACAC ACCCTCACCCGGGCACACCCTCACCGGGGCACACCCTCACCCGGGCACAC CCTCACCCAGACACACCCTCACCCGGGCACACCCTCACCGGGGCACACCC TCACCCGGACACACCCTCGCCCAGACACACCCTCGCCTGGGCACAGCCTC ACCGGGGCACACCCTCACCCAGACACAGCCTCGCCCAGACACACCCTCGC CCGGGCACACCCTCACCTGGGCACAGCCTCACCGGGGCACACCCTCACCC AGACACAGCCTCACCTGGGCACACCCTCTCCGGGGCACACCCTCGCCCGG ACACACCCTCACCCGGGCACACCCTCACCTGGGCACAGCCTCACCGGGGC ACACCCTCACCCAGACACAGCCTCACCCGGGCACACCCTCTCCGGGGCAC ACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCACCCAGACACGC CCTCACCCAGACACGCCCTCACCTGGGCACATCCTCACCGGGGCACACCC TCACCCAGACACACCCTCACCCGGGCACACCCTCGCCCGGGCACACCCTC GCCCGGACACACCCTCACCCGGGCACAGAATCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0037 a0003c0037	a0003c0037t0001 a0003c0037t0001	a0003c0037t0001g0010 a0003c0037t0001g0010	1	171	0.0058	-736	c.239 others(19): Show c.239-17897_239-17162del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
HABP4_chr9_96445169_96496336	96486531	ATTTGTCC others(729): Show ATTTGTCCTCCCGGGCTCCAGAGGTCTCCCAGAATATTTGAAGCAAGTGG GTTAGCTGAGTCATCAAGCCTGGTCTCAGTGAAGCACACATCTTGGTCCT TGTTAATCTTGGAGGATTGAAGATTTTAGCTAGGAATTGTTCTTAAAGCA ACACAAGCCAGATCTTGGGTTCATCAGTTTACTTTGTTCTGGACACCTGA AGAGGCAGAAGCACTAGAATACCTAGCAAAGTTCAGACCTAGTAACAACC TCGCGTAAGGCACTGGGCGGTGAAAGCACTTGGGCCAGGGCCAGCTGGAG CTGCAAGTGGAGCCCAAGCCTTAGACTGTGTCCACTCCCTGCTCCACTGC CCCGAGGCCCTTCCTGCCCCTTCCTGCAGTGGGAGGCGACTCAGAGCAGG GACCCCAGGGAGACCTTACCAGCGCTTCCCTGCTGAGTGCCAAACAAGGC AAGGGTTGAGTATTTTGCCTGTTACTATTTTTTGTGTGTATCTTTTTACA GAATGCCAGTGCTCCTGGACTGTTTTTCTTCACCTTTTTAGCATTAAGCA TCCAACTACCTAAAGCCTCTGCTTTATTTTAACCTGAGACCTCAAAGGGG ACACAAATGTTAAACATGAAGGCTGTCATGAGCATATGGCCTAAAGGTGT TGATATGCTCGTGGAAACTTTGCTCCATTTCCTGGTTGTAGGAATGTTTA ATGTTGTAGCACTTTGGAGATTCTCATCTGAAATCAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	304	0.0033	-736	c.100 others(18): Show c.1000-1556_1000-821del	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
HLA-DQA1_chr6_32632406_32648684	32633156	GCATGATG others(729): Show GCATGATGTTATTATCATTATCATTATTAATATTTGTCTTTATATAGGAG CTACCACTTGGGAATAGTTGCTATGTGTCAGACACTGGATTGTATTTAAC TTTATAATTGTACTTATCTATCATTTCATTTTACCATATTAACTATCATC TAATAATTTTCCTTCTGTTTTATAGAAAATAACCTTAAGGCTCAGGAGTT TTGAGTAGCTTGCCCAAGGTGATGCAGCTGATAAAATGAAAAGCAGCATG GAATACATATTTATCTTATTACAAAATCTGTATTCTTTTTACTTTGCTAC TCTAGACTCTCTTATTATTGTGAAGCAGCTTTAACTACTGCAAGACAGAA GTCTTGGCCTTCAGAGTAAAACTTCACCAGTGCATAAAGTCAGACTAAAG CAATTTGAAAATATACAGTCTTAGAGAATGTTATAACTGTTTATTAGAAC TAACATAAATTCTACCTAATTTCTTAGAGGGCTCTTAATGATGTCAATTA TAATGGCACATCCCATTGTTATTTTAGTCATGGAATCAATGGCATGTCAA TAAGTGCTTTCTGAGAAAATTGTTGGACAAAGTACTATTTTGAACTCCAA ATTTTATTCCCACTATTAATTTATGAAGAGGGCCTTTTCTCTTTCTACTA GACAAAGGTAACAAATTAGCTCTTGTTAAAATGGTATGCTGTTCTTCTGA GTCTCATTTACTTATTACTTTACCTTACATTAAAATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01256.hp2 others(4): Show HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG02145.hp1 HG03516.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0005 a0002c0002t0002g0007	7	84	0.0833	-736	c.-43 others(11): Show c.-4302_-3567del	HLA-DQA1	ENSG00000196735.13	transcript	ENST00000343139.11	protein_coding		4249		chr6	TogoVar
SLC9A3_chr5_465456_529449	467468	GTCTGACA others(729): Show GTCTGACATCCCCTCAGCCTAGAGGGTGCCTTCCTGATCCCCTCATGTCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACA TCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCC CTCAGCCTAGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCA GCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCT AGAGGGTGCCCTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAT GGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTG CCCTCCTGGTCCCCTCATGTCTGACATCCCCTCAGCCTAGAGGGCGCCCT CCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTG GTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCC CCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTC CTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTAT CTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGA CATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCCTGTCTGACATC CCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0045 a0001c0007t0001g0045	1	216	0.0046	-736	c.51 others(11): Show c.5175_*5910del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2987		chr5	TogoVar
TAF4_chr20_61969798_62070881	62057603	CCAGCAAG others(729): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTC AGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGAC AATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACAC AGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGC AAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAAT GGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGG CCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAG ACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGG GCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTA CACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACC TCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCT CGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18957.hp2 NA20905.hp1 HG03654.hp1 NA18957.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0025 a0002c0007 a0001c0001 a0001c0025 a0002c0007	a0001c0001t0001 a0001c0025t0001 a0002c0007t0001 a0001c0001t0001 a0001c0025t0001 a0002c0007t0001	a0001c0001t0001g0104 a0001c0025t0001g0199 a0002c0007t0001g0020 a0001c0001t0001g0104 a0001c0025t0001g0199 a0002c0007t0001g0020	3	222	0.0135	-736	c.136 others(19): Show c.1360+6112_1360+6847del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
UTP6_chr17_31855904_31906708	31860896	GACTCTAA others(729): Show GACTCTAATACTCATAGAAATTTAATATATAATAAAGGTAACATCACAAA TCAGCAGAGAGAAACATAACTGCCCAAATAGTGTTGGCAAAATTAACTGC TTGGGGAAAAAGAGTTGTTCTCAGCACCAGGAAGAGCTTCCAAAGCATTT TAAAAACAGACATCACACATACACACACAAAATACCTCTGGGCATCAAAA ATCGCCACAAAAGGTGCCTATAATCCCAGCTACTTGGGAGGCTTTGGCAG GGAGAACTGTTTGAACCTAGGAGGCAGAGGTTGCAGTAAGACCACACCAC TGCACTCCAGCCTGGACCACAGAGCAAGACTCTGTCTCAAAAAAAAAAAA TCACCACAAACAAGGCTGGGGGTAAAATTATTTGCAACAAATGAGAAACA AGATATTAATATTCTGAATATGTTTTTAAAAACTCTGGCCAGGCACAATG GCTCATGCCTATAATACCAGCACTTTGGGAGGTTGAGGTAGGAGGATTGT TTGAGCCCAACTGTTTAAGAGACCAGCCCTGGCAACATAGCAAGACCAGT CTCTACAAAAAAAAATTTAAATTAACCAGGCATGGTGGTGTGCACCTGCA GTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATCTCTTGAGCCCAGAAG TTAAGGCTGTAGTGAGCCATGATCACACCACTGCACTCTAGCCTAGGTGA CAAAGCAAGAACTTGTCCAATTTAAAAAAAAAAATTA	G G	splice_region_variant splice_region_variant	LOW	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0084 a0001c0001t0014g0084	1	322	0.0031	-736	c.17 others(11): Show c.1727_*2462del	UTP6	ENSG00000108651.10	transcript	ENST00000261708.9	protein_coding	19/19			chr17	TogoVar
ZC3H3_chr8_143432659_143546447	143487006	CACACAGA others(729): Show CACACAGAACAGCACCCGCTACACGACCCCACCACCACGAAGCTCAGACA CAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACAGA ACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACAGAACAG CACCCGCTACACGGCCCCACCACCACGAAGCTCACACACAGAACAGCACC CGCTACACGGCCCCACCACCACGAAGCTCACACACAGAACAGCACCCGCT ACACGGCCCCACCACCACGAAGCTCAGACACACAACAGCACCCGCTACAC GGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGGCC CCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCAC CACCACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACC ACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCACGA AGCTCACACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCT CACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGA CACAGAACAGCACCCGCTACACGACCCCACCACCACGAAGCTCACACACA GAACAGCACCCGCTACACGACCCCATCACCACGAAGCTCACACACAGAAC AGCACCCGCTACACTGCCCCATCACCACGAAGCTCAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp1 HG03041.hp2 others(5): Show HG02615.hp1 HG02818.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03486.hp2 HG03540.hp2 NA19043.hp1	a0007 a0022 a0007 a0022	a0007c0008 a0022c0026 a0007c0008 a0022c0026	a0007c0008t0001 a0022c0026t0001 a0007c0008t0001 a0022c0026t0001	a0007c0008t0001g0170 a0007c0008t0001g0171 a0007c0008t0001g0172 others(5): Show a0007c0008t0001g0170 a0007c0008t0001g0171 a0007c0008t0001g0172 a0007c0008t0001g0173 a0007c0008t0001g0174 a0007c0008t0001g0177 a0022c0026t0001g0175 a0022c0026t0001g0176	8	343	0.0233	-736	c.171 others(21): Show c.1716-12157_1716-11422del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
AASDH_chr4_56333290_56392491	56365117	AAAGAAGG others(728): Show AAAGAAGGCCATTACATAATGCTAAAGGGATCAATTCAACAAGAAGAGCT AACTATCCTAAATATATATGCACCCAATACAGGAGCACCCAGATTCATAA AGCAAGTCCTTAGAGACCTACAAAGAGACTTAGACTCCCACACAATAATA ATGGGAGACTTTCACACCCCACTGCCAACATTAGACAGATCACCGAGACA GAAAGTTAACAAGGATATCCAGGAATTGAACTCAGCTCTGCACCAAGCGG ACCTAACAGACATCTACAGAACTCTCTACCCCAAATCAACAGAATATACA TTCTTCTCAGCACCACACCACACCTATTCCAAAACTGACCAAATAGTTGG AAGTAAAGCACTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACT GTCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGAAACTC ACTCAAAACCGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGA CTACTGGGTACATAATGAAATGAAGGCAGAAATCAAGATGTTCTTTGAAA CCAACGAGAACAAAGACACAACATACCAGAATCTCTGGGACGCATTCAAA GCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCA GGAAAGATCTAAAATTGACAACCTAACATCTTAATTAAAAGAACTAGAGA AGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0326 a0006c0008t0001g0326	1	380	0.0026	-735	c.861 others(17): Show c.861+5599_861+6333del	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	5/14			chr4	TogoVar
ACTN2_chr1_236681499_236769631	236755708	GTTAGAAC others(728): Show GTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTT AGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTA GAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAG AACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAA CCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAAC CCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACC GTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCC TGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCT GGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTG GTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGG TTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGT TATAGAGTATGTACTGCAGAGTGCCCGCTGCCACCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(75): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00642.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG02027.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03486.hp1 HG03579.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp2 NA18998.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp2 NA19070.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0013 a0001c0014 a0001c0030 a0002c0020	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0001c0003t0002 a0001c0004t0002 a0001c0006t0002 a0001c0006t0008 a0001c0010t0002 a0001c0013t0002 a0001c0013t0023 a0001c0014t0002 a0001c0030t0002 a0002c0020t0002	a0001c0001t0001g0182 a0001c0001t0002g0154 a0001c0002t0002g0017 others(75): Show a0001c0001t0001g0182 a0001c0001t0002g0154 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0072 a0001c0002t0002g0080 a0001c0002t0002g0088 a0001c0002t0002g0160 a0001c0002t0002g0163 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0204 a0001c0002t0002g0208 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0221 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0255 a0001c0002t0002g0263 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0275 a0001c0002t0002g0281 a0001c0002t0002g0286 a0001c0002t0002g0306 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0317 a0001c0002t0007g0035 a0001c0002t0007g0174 a0001c0002t0007g0199 a0001c0002t0007g0207 a0001c0002t0007g0239 a0001c0002t0007g0301 a0001c0002t0007g0304 a0001c0002t0007g0330 a0001c0002t0007g0333 a0001c0002t0013g0159 a0001c0002t0013g0237 a0001c0002t0013g0332 a0001c0003t0002g0053 a0001c0004t0002g0063 a0001c0004t0002g0238 a0001c0006t0002g0050 a0001c0006t0002g0148 a0001c0006t0002g0169 a0001c0006t0008g0128 a0001c0006t0008g0129 a0001c0006t0008g0343 a0001c0010t0002g0158 a0001c0013t0002g0052 a0001c0013t0023g0096 a0001c0014t0002g0054 a0001c0030t0002g0267 a0002c0020t0002g0008	78	340	0.2294	-735	c.215 others(18): Show c.2154+524_2155-1030del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADARB2_chr10_1172313_1742525	1235524	GCCTCCCG others(728): Show GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTG TTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCT GGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCTTTTAAC AAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTACACACC TGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGG ACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGG AGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGA GTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCA GGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGT TGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTG CCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGT GTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0011 a0002c0002t0006g0011	1	100	0.0100	-735	c.136 others(19): Show c.1362-2414_1362-1680del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AHRR_chr5_316714_443285	391344	CGCAGGGC others(728): Show CGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGCGCAGGGCGAGGAGGGC GCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCG CAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGC AGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCA GGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAG GGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGG GTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGG TGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGC GAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAG GCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGCA GGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCAG GGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGG GTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0033 a0004c0003t0033	a0004c0003t0033g0242 a0004c0003t0033g0242	1	263	0.0038	-735	c.351 others(19): Show c.351+14644_351+15378del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ASMTL_chrX_1398139_1457909	1408754	GCAGGAGG others(728): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCCTCCAGC CAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACT GCACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAG TGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGCTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	176	0.0057	-735	c.164 others(19): Show c.1645+3243_1645+3977del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408996	GCAACACT others(728): Show GCAACACTGCACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGACAACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTG AACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATA CTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTG CAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCC AAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAA GGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGCTA CTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAG GTCAAGGCTGCAGTGAACTATGATGACAACACTGCACTCCAGCCAAATGC TGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCC AGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCA AATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTG AGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0093 a0002c0004t0001g0093	1	179	0.0056	-735	c.164 others(19): Show c.1645+3001_1645+3735del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
B3GNTL1_chr17_82937149_83056770	82975029	TTATGGGG others(728): Show TTATGGGGAACCAGGGCCCCAGGACAGAGCCCGACTCCATCCTCCCAGGG ACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCA TCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAG AGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGG CCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCCGGAGGCCACTTAT GGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCA GAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCT CCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCG GACTCCATCCTCCCAGGGGCTGGAGGCCACTTATGGGGAACGAGGGCCCC GGGACAGAGCCGAACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGA GTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGC CACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAG GGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTC CATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACA GAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01361.hp1 others(8): Show HG00408.hp1 HG00438.hp1 HG01361.hp1 HG01943.hp1 HG02015.hp2 HG02027.hp2 HG02132.hp2 HG02698.hp1 HG02896.hp1 HG03540.hp1 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0002c0005 a0002c0009 a0002c0010	a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 others(6): Show a0001c0001t0002 a0001c0001t0032 a0001c0002t0002 a0001c0003t0034 a0001c0014t0001 a0002c0005t0003 a0002c0009t0003 a0002c0009t0013 a0002c0010t0007	a0001c0001t0002g0059 a0001c0001t0032g0164 a0001c0002t0002g0087 others(8): Show a0001c0001t0002g0059 a0001c0001t0032g0164 a0001c0002t0002g0087 a0001c0002t0002g0115 a0001c0003t0034g0201 a0001c0014t0001g0013 a0002c0005t0003g0058 a0002c0005t0003g0163 a0002c0009t0003g0093 a0002c0009t0013g0088 a0002c0010t0007g0209	11	266	0.0414	-735	c.460 others(18): Show c.460-10018_460-9284del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
DLGAP2_chr8_732628_1713476	1015393	CGCCTCCA others(728): Show CGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCA GGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCC ACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGTGACCAGGACAGACGGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	37	0.0270	-735	c.73+ others(19): Show c.73+107443_73+108177del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK4_chr7_111721110_112211399	111925913	CCATCTCT others(728): Show CCATCTCTACTAAAATACAATAAATAAATAAATAAGCCTTGCATGGTGGC GTGTCGCCTGTAGTTCCAGCTATTCAGGAGGCTGAGGCAGGGGAATCACT TGAACCCGGGAGGCGGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACT CCAGCCTGGCGACAGAGCGAGACAAAGAAAAAAGAAAGAGAGAGAGAGAG AAAGAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAGAAAAAGAAAG AAAAAGAAGGAAGGAAGGCGGGCAAGGTGGGCAGATCACGAGGTCAGGAG ATCGAGACTATCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAATAC AATGAATAAATAAATAAATAAGCCGAGCATGGTGGCGCGCCGCCTGTAGT TCCAGCTATTCAGGAGGCTGAGGCAGGGAAATCACTTGAACCCGGGAGGC GGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACA CAGCGAGACAAAGAAAAAAGAAAGACAGAGAGAGAGAGAGAGAGAAAGAG AAAAAGAAAGAAAGAAAGAAAAAGAAAGAAACAAAGAAAAAAAGAAGGAA GAAAAAAAGAAAGAAAAAGAGAAAGAGAAAGAGAAAGAAAGGAAGGAAGG AAGCAGGGCGGGCGGGCAAGGCGGGCAAGGTGGGCAGATCACGAGGTCAG GAGATCGAGACTATCCTGGCCAACATGGTAAAAACA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03139.hp2 NA18906.hp2 HG03041.hp2 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0003 a0001c0008t0001 a0001c0001t0001 a0001c0002t0003 a0001c0008t0001	a0001c0001t0001g0009 a0001c0002t0003g0080 a0001c0008t0001g0027 a0001c0001t0001g0009 a0001c0002t0003g0080 a0001c0008t0001g0027	3	106	0.0283	-735	c.106 others(19): Show c.1066+8892_1066+9626del	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	12/52			chr7	TogoVar
GTF2H5_chr6_158163350_158204344	158202036	CAACAGAG others(728): Show CAACAGAGAAAAAAACAAACAAAAAAAAACACATTAAATCAGGTGCTATT TGCAGCTGTAATTTGTAACTATTGCACTTTGGATATGGTAGTAGAAGCTA CCATGTCTAAAAGTAAATGTTCTATGAGTGTTTAAACCTCTAACTATGAC TATACTGGGCAATTGGTCCAAAAGCCACTCTGAAAATTTTCCAGCATAAA GTTGTTATGGTCTTGACTGAGGCAGATATGCCTTTGAGGGCTTCTTAGTC TATATCAGTGCTTTTCAACTTTAAAGTACTTACAAATCATCTGGAAGTCC TTAGAATGCAGATTCCGATTAAGTGGGTGTGGGCTGGGGCCTGAGATTCT GCATTTCTAGAAGGCTTCCAGGGGATGGCAGTGCTGCTGTCTGGCAGGTC ACATTTTGAGTAGCTAAGCTCAAACACCCAAAGTGATGGTGTCATAGAGA AATAGAAGTTAAAGAAAAATGTTTAGGCCGGACGCAGTGGCTCAACCCTG TAATCCCAGCATTTTGGGAGGCCAAGGCAGGGGATCACCCGAGCTCAGGA GCTCAAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCCAGGCGTTGTGGTGCATGCTTGTAATCCCAGTTACTC AGGAGGCTGAGACAGGAGAATCACTTGAATCTGGGAGGCGGAGATTGCAG TGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0149 a0001c0001t0113g0149	1	382	0.0026	-735	c.98 others(12): Show c.9880_*10614del	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding		2693		chr6	TogoVar
HSD17B14_chr19_48808018_48841491	48834738	GGAGGGGC others(728): Show GGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTA GGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGG CCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGG GAGGAGGGGATGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCT GGGTCTGAGAAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGTGCCAGAGCCTGGACTCCTGGGTCTGAGGGAA	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	390	0.0026	-735	c.127 others(15): Show c.127+332_128-381del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
L2HGDH_chr14_50237434_50317229	50240759	CTGAGTAT others(728): Show CTGAGTATTTAGAAGGATCCAGGAGGTCCCAGCTGGAATGACTGATCAAG AATCTAAGAAAGGCTGGGTGCAGTGGCTCATGCCTATAATCGCAGCATTT TGGGAGGCCAAGGCAGGTGGATACCCTGAGGTCAGGAGTTCGAGACCAGC CTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCC GGGCATCGTGGTGTGTGACTGTAGTTCCAACTACTCAGGAGGCTGAGGCA AGAGAACTGCTTGAACCCAGGAGGCGGAGGTTGAAGTGAACTGAGATCAT GCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTCAAAAAGA AAAAAAAAGGGAAAAAAAAAGCATCTAAGAAAAACATAGGCAAAGGTTAA GGATCTAGGCATTCTGGGAAAGAGCAATTAGTACGTGGCCCCTGTGATTT GGGAAGCTACTCAGAGACCAAAACAACAACAAAAACCCAAACAAACTAAA GAACCTGCTATTATTATAAACTGATATCACAGCCAGGTGTGGCGACCCAT GCCTGTAATCTCAGCACGTTGGGAGGCCAAGGCAAGAAGATTGCTTGAGG CCAAGAGTTCCAGACCATCCTGGGCAAAATAGTGAAACCTGTCTCCTCAA AAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGAGATGCACACCTGTAGT CTCAGCTATTCAGGGGGCTAAAGCAGGAAGATTACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0278 a0002c0002t0004g0278	1	358	0.0028	-735	c.55 others(11): Show c.5564_*6298del	L2HGDH	ENSG00000087299.12	transcript	ENST00000267436.9	protein_coding		1674		chr14	TogoVar
MAPKAPK5_chr12_111837228_111907222	111858637	GGGTTCAA others(728): Show GGGTTCAAGCAATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGATTACAG CACCTGCCACTGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGT TTCACTGTGTTGGCCGGGCTGGTCTCGAGCTCCTGACCTCATGATCCGCC CGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCTC AGCCTGTTGAGCACCTCTGATCAGTTTTTCATGCCAGTCATTATAATTTT TAACTCTAGAATTTCCATGTGGTTCCTCTTCATTTTTTCTGTTTCTCGGC TGAAAATCTCTATTTATCATTATTTTTTACTTCGTCATCAGTTTTCTTTA ATTCTTTGGACGTTTAAAATAGTTGCTTTTAAGTGCAACTACTTGCTCAA TCTAGTATCTGCATCCAATCAGAGATGGATGCTATTGATTTCTCTTTTTC CTGAGCTTAGGTGACACTTTCCTGGTTTTTACAAGTCTAGTAATTTTGGT TGAAAACTGGACATTTAGATAATATAGCAACTCTGGATTCTGAGTTTTCC CCCCTGTGGCTTGTTATATTTACAGTTAATTGCTTAGAATTAAACCAGAA TCTATTTTTCCTTTGGTGTGCTAATGTCTCTGCTTAGTTTTAAATTATTA TTAGTTTTTTCGAGACGGAGTCTCACTCTGTCACCAGGCTGGAGTGCAGT GGCATGATCTCAGCTCATTGCAACCTCCGCTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp2 HG01099.hp2 others(71): Show HG00597.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01243.hp1 HG01891.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02486.hp1 HG02523.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 NA18522.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18987.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(24): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0004t0006	a0001c0001t0005g0003 a0001c0001t0005g0007 a0001c0001t0005g0139 others(62): Show a0001c0001t0005g0003 a0001c0001t0005g0007 a0001c0001t0005g0139 a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0165 a0001c0001t0005g0176 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0223 a0001c0001t0006g0025 a0001c0001t0006g0177 a0001c0001t0006g0179 a0001c0001t0006g0189 a0001c0001t0006g0222 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0184 a0001c0001t0008g0185 a0001c0001t0008g0187 a0001c0001t0008g0205 a0001c0001t0008g0206 a0001c0001t0009g0003 a0001c0001t0009g0158 a0001c0001t0009g0162 a0001c0001t0009g0168 a0001c0001t0009g0169 a0001c0001t0009g0170 a0001c0001t0009g0175 a0001c0001t0009g0182 a0001c0001t0012g0024 a0001c0001t0012g0163 a0001c0001t0012g0190 a0001c0001t0012g0194 a0001c0001t0012g0199 a0001c0001t0019g0007 a0001c0001t0024g0023 a0001c0001t0025g0151 a0001c0001t0025g0167 a0001c0001t0026g0021 a0001c0001t0026g0171 a0001c0001t0043g0192 a0001c0001t0044g0183 a0001c0001t0045g0204 a0001c0001t0046g0198 a0001c0001t0047g0172 a0001c0001t0048g0164 a0001c0001t0049g0156 a0001c0001t0050g0157 a0001c0001t0051g0181 a0001c0001t0052g0173 a0001c0001t0053g0166 a0001c0001t0054g0186 a0001c0001t0057g0197 a0001c0001t0058g0188 a0001c0001t0060g0191 a0001c0001t0063g0150 a0001c0001t0064g0174 a0001c0004t0006g0193 a0001c0004t0006g0195 a0001c0004t0006g0196	74	350	0.2114	-735	c.37- others(15): Show c.37-6603_37-5869del	MAPKAPK5	ENSG00000089022.15	transcript	ENST00000550735.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
MUC4_chr3_195741771_195816929	195777164	CCCATACC others(728): Show CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACATCCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACATCCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACATCCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03540.hp1 HG00099.hp2 HG03540.hp1	a0027 a0092 a0027 a0092	a0027c0033 a0092c0102 a0027c0033 a0092c0102	a0027c0033t0002 a0092c0102t0002 a0027c0033t0002 a0092c0102t0002	a0027c0033t0002g0189 a0092c0102t0002g0182 a0027c0033t0002g0189 a0092c0102t0002g0182	2	234	0.0085	-735	c.129 others(20): Show c.12943+404_12943+1138del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
RAB40C_chr16_585066_634268	618540	GGGTGTAC others(728): Show GGGTGTACTTGGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCAGG GCCATGTGTGTGTGCAGCCATGTGCACAGGTCTGGCGGGGGCACTGGGGC CATGTGTGCAGTGTGTGCGCAGGTGTGGTGTACTTGGAGCTGTGTGTGTG CACAGGTGTAGTGGGTGCACTCAGGGCCATGTGTGTGCAGGCATGTGCAC AGGTCTGGCGGACGCACTGGGGCCATGTGTGCAGTGTGTGCAGGTGTGGT GTACTTGGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCGGCCATG TGTATGTGCAGGCATGTGCACAGGTCTGGCGGGGGCACTGGGGCCATGTG TGCAGTGTGTGCTCAGGTGTGTACTTGGAGCTGTGTGTGTGCACAGGTGT AGTGGGTGCACTCAGGGCCATGTGTGTGCAGGCATTTGCACAGGTCTGGC GGACGCACTGGGGCCATGTGTGCAGTGTGTGCAGGTGTGGTGTACTTGGA GCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCGGCCATGTGTGTGTGC AGGCATGTGCACAGGTCTGGCGGGGGCACTGGGGCCATGTGTGCAGTGTG TGCTCAGGTGTGGTGTACTTGGAGCTGTGTGTGTGCACAGGTGTAGTGGG TGCACTCAGGGCCATGTGTGTGTGCAGGCATGTGCACAGGTCTGGCGGGG GCACTGGGGCCATGTGTGCAGTGTGTGTGCAGGTGT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	347	0.0029	-735	c.264 others(16): Show c.264+397_264+1131del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235075	CCTCCACT others(728): Show CCTCCACTCCAACCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAACCT CTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGATTGACCGTGGG CCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCC AGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGATG GTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCC ACTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGAT GGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAG CCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCT CTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGG CCAAGCCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGTCTCCACTCC AGCCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGATTGACC GTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCC ACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGAT GGATGGTGGGCCAAGCCTCCACTCCAGTCTCTGATGGACGGTGGGCCAAG TCTCCACTCCAGCCTCTGATGGACAGTGGGCCAAGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02630.hp1 others(4): Show HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG03041.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0084 a0001c0001t0001g0183 a0001c0001t0001g0240 others(4): Show a0001c0001t0001g0084 a0001c0001t0001g0183 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0283 a0001c0001t0001g0317 a0001c0007t0001g0121	7	360	0.0194	-735	c.-12 others(20): Show c.-127-10637_-127-9903del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ADARB2_chr10_1172313_1742525	1237978	CTCCCGGT others(727): Show CTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGC ATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGG TGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0007 a0010c0012t0007	a0010c0012t0007g0006 a0010c0012t0007g0006	1	100	0.0100	-734	c.136 others(19): Show c.1361+3419_1362-4134del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CNTNAP4_chr16_76272401_76565757	76565023	CCCTGCAG others(727): Show CCCTGCAGATCTCCCTGCAAACATTTCTGCAGCCTCTTTTATATACAGTG ACTTCTAGTTTTGAAAACTGACTCATGCTTAAAGACAAAAGATTGTTACT TTAACAAACTTTGAGACAATAAACATGTTACAGAAAATTTGGAAGTATGA TACATTATTACCATCTAGTCTCCAGACCTCATAGATTCACTAGCTGTCCC AATGACGTATTTTATAACAAAAGAATCCACTTTAGAATCATGTATGACAT TCAGTTGTCATCTATTTTTAGTTTGCTTTTGTTGAAGGAGTTTATCAGAC TTTCCTTGACTTCCACACCCATGATATCTTTGTAAAGGTTATAGACCACT TAGTATCACAGCCCTCAGTTTGGGTTTGGCTGACGTTTCCTCTTGATTGC ATTCAGTTTATTCATATTAGTCAATGAAAGCACTGAACTGGTGCTGTGTT TTTCTCATTGCATCCTAGCAGGGGGTGCAGTGCATAATTTCAATTTGTCC AATAACTGATGATGGTCACTCTGATACATATGGTCTGTAAAGTTTCTCCG CTGTAAGGTTACTTCACCTCTATCCTCCACCTGCAGGTCCCAACATTTCT CTGCTGCACTTTAGTGAGCCTGCCACTGTCTCAATGCATTCTGTACTTGC TTCTCTCAAGACTGCTTCACAGCTGTCAACCCAAGGCTTCCTTTCTTCTC ATGCTGGGAATTCCCTCCCTCTCATTCCTGATGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02922.hp2 others(4): Show HG02055.hp1 HG02647.hp2 HG02922.hp2 HG03195.hp1 HG03195.hp2 NA18906.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0017	a0001c0001 a0002c0014 a0003c0003 others(2): Show a0001c0001 a0002c0014 a0003c0003 a0004c0007 a0017c0045	a0001c0001t0005 a0002c0014t0013 a0003c0003t0005 others(2): Show a0001c0001t0005 a0002c0014t0013 a0003c0003t0005 a0004c0007t0014 a0017c0045t0014	a0001c0001t0005g0163 a0002c0014t0013g0054 a0002c0014t0013g0263 others(4): Show a0001c0001t0005g0163 a0002c0014t0013g0054 a0002c0014t0013g0263 a0003c0003t0005g0047 a0003c0003t0005g0266 a0004c0007t0014g0142 a0017c0045t0014g0075	7	272	0.0257	-734	c.63 others(11): Show c.6341_*7074del	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding		4267		chr16	TogoVar
LCA5L_chr21_39400728_39450778	39418045	CGTGAGCC others(727): Show CGTGAGCCACCGCGCCCAGCGGGGGAGTTTCTTTTTATAAAACCATCAGA TCTCATGAGACTTATTCACTATCACAAGAACAGCATGGGAAAGACCTGCC TCTATGATCTAATTACCTCCCACTGGGTCCCTCCCCTGACATGTGGGAAC TGTGGGAGCTACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACC ATATCAAGGATATTACAGTTTCGTTTGCCTTCCTTTCTTCACTTACCAGT GTATCCTAGAGATTATTCCATAGTAGTACATCAAGATTCTTCATTGCTGT TTACAGATATATAGATATCCATTGTGTGGAGGTACATTTAATTTTCTTTT TAAAAATAAATTTGGATCTTACTGTATATAGAATTTTCTATCTTTTCATT AAGCATTTCATTAAGTATTAAGCATTTCTCTGTTAAAAATGGTTATTTTT ATTTTATTTTTTTTAAATTTTTTTGAGATGGAGCCTCACTCTGTCACCCA GGGTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCTTCCCA GGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAATGGGATTACAGGC ACGCATCACCATGCCAAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTT TTGCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGT	C C	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	338	0.0030	-734	c.975 others(17): Show c.975+1927_975+2660del	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	7/10			chr21	TogoVar
MRPS26_chr20_3041052_3053250	3052516	GCAGCCTG others(727): Show GCAGCCTGGACAATGGAGAGAGACTCCATCACCCCCACCCCCCCACCAAA AAAAAAGAAAACAGCAGTTTATAAACAGATATTCTACATCCCTCTTCGCA TTGTTTATCAGGACTGTCATTTTCTTGTATGAGACATTTGGGTTTTTTCC CTCTGAATATGTTACTACTGTGACATTTAGCCCTTAGAAAAAAATGTTAG GCCAGGTACAGTGGCTCACACCTGTAATCCCAACAATTTGGGAGGCTGAG GTGGGAGGATCGCTTGAGCCCAGAAGTTTGAGACTAGTCTGGGAAACATA GGGAAACCCATCTCTATTAAAAAAAAAAAAAATTAAAAATTAGCTGGGCA TGGTGGTGTACACCTGTGGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGG ATGGCTTGTGCCTGGTAGGTTGAGACTGCAGTGAACCATGATCACACCAC TGGACTCCAGCCTAGGCAACAGAGCGAGACCCTATCTTCAAAAAAAAGAG GAAAAGAAAAGAAGTTAACAAATGTTCAGTATTTCAGTTACTTCCTGACC TGGTGATATTTAAGGGTGTGTTTGTTTTTGGATGATCTTTGCAAATATAT TAACTACTGTTAAGGGGAAAAGCTGCTTCGGCGACTTGAGCTGATTGAGT CACACTTCTGGGCTCTCTGGGCCCTTTTGTGAGTTTATAATAGAAATAAA ATATGACTTTATAAAAAAAATCCCCAAGAGAGATG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG01884.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0003 a0001c0001t0001g0017	2	436	0.0046	-734	c.46 others(11): Show c.4648_*5381del	MRPS26	ENSG00000125901.6	transcript	ENST00000380325.4	protein_coding		4267		chr20	TogoVar

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