Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff annotation impact

Snpeff annotation impact detail

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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
ALDH1L2_chr12_105014790_105089458	105036144	TTATATAT others(127): Show TTATATATGTGTATATAATATATACACGTATATTTATATATGTGTATATA ATATATACACGTATATTTATATATGTGTATATAATATATACACGTATATT TATATATGTGTATATAATATATACACGTATATTTA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0291 a0001c0001t0015g0291	1	386	0.0026	-134	c.214 others(19): Show c.2145+1825_2146-1747del	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ANOS1_chrX_8523874_8737137	8725519	GATATATA others(127): Show GATATATATATATATACAGATATATATATACAGATATATATATACAGATA TACATATATACAGATATATATATACAGATATATATATACAGATATATATA TATACAGATATATATATACAGATATATATACAGAT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02630.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0013 a0001c0001t0001 a0002c0002t0013	a0001c0001t0001g0007 a0002c0002t0013g0008 a0001c0001t0001g0007 a0002c0002t0013g0008	2	231	0.0087	-134	c.207 others(17): Show c.207+6177_207+6310del	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	1/13			chrX	TogoVar
AQP12A_chr2_240686866_240703483	240693821	CCTCTCTC others(127): Show CCTCTCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCTC TGTCTCTCCTCTCTCTCTGTCTCCCTGTCTCTCTCTGTCTCTCCTCTCTC TCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02896.hp2 HG02280.hp2 HG02896.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0016 a0010c0012t0002g0016	2	171	0.0117	-134	c.572 others(15): Show c.572-603_572-470del	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP28_chr18_6724716_6920716	6783431	AGCTGGGA others(127): Show AGCTGGGATTACAGGCATGTGCCACCAGGCCTGGCTAATTTTGTATTTTT AGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGA CCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG02258.hp1 others(7): Show HG01175.hp2 HG01346.hp1 HG02258.hp1 HG02451.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG03579.hp1 NA18906.hp2 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0019 others(2): Show a0001c0001 a0001c0003 a0001c0019 a0002c0002 a0007c0008	a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0003 a0001c0019t0021 a0002c0002t0002 a0007c0008t0002	a0001c0001t0001g0072 a0001c0001t0001g0100 a0001c0001t0006g0155 others(7): Show a0001c0001t0001g0072 a0001c0001t0001g0100 a0001c0001t0006g0155 a0001c0003t0003g0084 a0001c0003t0003g0105 a0001c0003t0003g0145 a0001c0019t0021g0073 a0002c0002t0002g0148 a0007c0008t0002g0069 a0007c0008t0002g0146	10	248	0.0403	-134	c.123 others(19): Show c.123-41315_123-41182del	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGEF7_chr13_111110310_111310732	111221139	ATATATAT others(127): Show ATATATATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATAT ATATGTCTATATATATCTATATAGATATATATGTC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0037 a0001c0001t0023g0037	1	274	0.0037	-134	c.670 others(17): Show c.670+3269_670+3402del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GALT1_chr2_167288001_167879045	167875980	TATACACG others(127): Show TATACACGTATATATATATATACGTATATATATATATACGTATATATATA TATACGTATATATATATATATACGTATATATATATATGTATATATATATA TACGTATATATATATATGTATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG02723.hp2 others(4): Show HG02280.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0040 a0001c0001t0002 a0001c0001t0012 a0001c0001t0040	a0001c0001t0002g0029 a0001c0001t0002g0052 a0001c0001t0002g0070 others(4): Show a0001c0001t0002g0029 a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0094 a0001c0001t0012g0075 a0001c0001t0012g0083 a0001c0001t0040g0022	7	118	0.0593	-134	c.59 others(11): Show c.5961_*6094del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1936		chr2	TogoVar
C7orf50_chr7_992006_1143247	1039419	GGGGGGTC others(127): Show GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01433.hp2 HG03927.hp1 others(2): Show HG00733.hp1 HG01433.hp2 HG03927.hp1 NA20752.hp1 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0003 a0001c0001 a0009c0003	a0001c0001t0009 a0001c0001t0011 a0009c0003t0011 a0001c0001t0009 a0001c0001t0011 a0009c0003t0011	a0001c0001t0009g0117 a0001c0001t0011g0261 a0001c0001t0011g0276 others(2): Show a0001c0001t0009g0117 a0001c0001t0011g0261 a0001c0001t0011g0276 a0001c0001t0011g0277 a0009c0003t0011g0274	5	326	0.0153	-134	c.130 others(19): Show c.130-29410_130-29277del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1074026	CCACCCCG others(127): Show CCACCCCGCTGCCGTCACGCTCCGTGACCCCCGACCCCGACACCCTGCTG CCGTGATGTTCCCCCAACCCTGCACCCCGCTGCCGTGACGCCCGCCCCGA CCCCGCACCCCGCTGCCGTCACGCCCCCGACCCCG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	326	0.0031	-134	c.129 others(19): Show c.129+53097_129+53230del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318483	AGGGAAAG others(127): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02155.hp1 HG02738.hp1 others(2): Show HG02148.hp2 HG02155.hp1 HG02738.hp1 NA18995.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0002t0002	a0001c0001t0002g0143 a0001c0001t0002g0157 a0001c0001t0005g0058 others(2): Show a0001c0001t0002g0143 a0001c0001t0002g0157 a0001c0001t0005g0058 a0001c0001t0014g0116 a0001c0002t0002g0087	5	324	0.0154	-134	c.835 others(17): Show c.835-7624_835-7491del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CADM2_chr3_84953989_86079429	85768975	AGTATATA others(127): Show AGTATATATACACATATATACATATATAGTATATATACACATATATACAT ATATAGTATATATACACATATATACATATATAGTATATATACACATATAT ACATATATAGTATATATACACATATATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG03239.hp1 HG01074.hp1 HG01261.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0125 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0001g0125 a0001c0001t0021g0126 a0001c0001t0021g0127	3	146	0.0206	-134	c.89- others(17): Show c.89-32950_89-32817del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12401150	TTATATAT others(127): Show TTATATATATATAATATATGTATTATATATATTATATATATATTTTATAT ATATATAATATATGTATTATATATATTATATATATATTTTATATATATAT AATATATGTATTATATATATTATGTATATATTTTA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20300.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0107 a0001c0001t0002 a0001c0002t0107	a0001c0001t0002g0041 a0001c0002t0107g0117 a0001c0001t0002g0041 a0001c0002t0107g0117	2	214	0.0094	-134	c.92+ others(17): Show c.92+51251_92+51384del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44588858	GTCCGGGA others(127): Show GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGACCCGGCCATCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp1 HG02622.hp1 others(2): Show HG01243.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0102 a0001c0001t0004g0030 a0001c0001t0004g0031 others(2): Show a0001c0001t0003g0102 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033	5	198	0.0253	-134	c.377 others(21): Show c.377-115422_377-115289del	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CBFA2T3_chr16_88869858_88982207	88950570	GGAGTGTT others(127): Show GGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCCCCTGGACCGG CACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCA CCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCA	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0008 a0001c0022t0008	a0001c0022t0008g0192 a0001c0022t0008g0192	1	284	0.0035	-134	c.151 others(19): Show c.151+25953_151+26086del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88950877	CCCTGGAT others(127): Show CCCTGGATCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCC GGATCTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAGT GTTGGCACCTGTCTTCCGGATCTGTTCACCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp2 HG02258.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0168 a0001c0002t0003g0090 a0001c0002t0003g0168	2	284	0.0070	-134	c.151 others(19): Show c.151+25646_151+25779del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC127_chr5_191868_223153	209082	CAGGACTC others(127): Show CAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACA CATCATTCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTT CGCAGCCTGGCCACACACATCATTCCACAACACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG02723.hp1 others(8): Show HG01884.hp2 HG02647.hp1 HG02723.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 NA18522.hp1 NA18943.hp2 NA18945.hp1 NA18994.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0036 a0001c0001t0037 others(5): Show a0001c0001t0023 a0001c0001t0036 a0001c0001t0037 a0001c0001t0108 a0001c0001t0127 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178	a0001c0001t0023g0033 a0001c0001t0036g0035 a0001c0001t0037g0036 others(5): Show a0001c0001t0023g0033 a0001c0001t0036g0035 a0001c0001t0037g0036 a0001c0001t0108g0198 a0001c0001t0127g0224 a0001c0001t0176g0220 a0001c0001t0177g0206 a0001c0001t0178g0207	11	406	0.0271	-134	c.122 others(17): Show c.122-3258_122-3125del	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CDC25A_chr3_48152146_48193417	48155554	TAGCACTT others(127): Show TAGCACTTTGGGAGGCCAAGGCAGGGGGATCACCTGAGGTCAGGAGTTCA AGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATATAAA ATTAGCTGGGTGTGGTGGCACATGCCCGTAATCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(286): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001 a0004c0006t0002 a0005c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(238): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0004g0010 a0001c0001t0004g0126 a0001c0001t0004g0131 a0001c0001t0004g0133 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0249 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0134 a0001c0001t0005g0138 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0007g0139 a0001c0001t0007g0247 a0001c0001t0008g0157 a0001c0001t0008g0162 a0001c0001t0009g0040 a0001c0001t0010g0064 a0001c0001t0011g0132 a0001c0001t0012g0174 a0001c0001t0013g0231 a0001c0002t0001g0025 a0001c0002t0001g0148 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0278 a0003c0004t0001g0275 a0004c0006t0002g0065 a0005c0005t0001g0254	289	340	0.8500	-134	c.32 others(11): Show c.3257_*3390del	CDC25A	ENSG00000164045.12	transcript	ENST00000302506.8	protein_coding		1591		chr3	TogoVar
CDH4_chr20_61247261_61945617	61550077	CTTCCCTG others(127): Show CTTCCCTGGCCTCCCTGCCCCAGCTTCTCTGGCTTCCTTAGGTTGCCTCA CTGGCCTCCCTAGCCTACCTCCATGGCCTCCCTGCCCCAACCTCACTGGC CTCCCTAGCCTGCTTCCCTGGCCTCCCTAGCCTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0092 a0001c0001t0038g0092	1	106	0.0094	-134	c.170 others(21): Show c.170-193464_170-193331del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61550149	ATGGCCTC others(127): Show ATGGCCTCCCTGCCCCAACCTCACTGGCCTCCCTAGCCTGCTTCCCTGGC CTCCCTAGCCTGTTTCCCTGGCCTCCCTGCCCCAACTTCTCTGGCTTTCC TAGCTTGCCTCCCTGGCCTCCCTAGCCTACCTCCC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18522.hp2 HG02895.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0028 a0001c0001t0009 a0001c0001t0028	a0001c0001t0009g0013 a0001c0001t0028g0016 a0001c0001t0009g0013 a0001c0001t0028g0016	2	106	0.0189	-134	c.170 others(21): Show c.170-193352_170-193219del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61585648	GGTGATGG others(127): Show GGTGATGGTGATGGTGATTGTGATGGTGATGGTGATGGTGATGATTGTGG TCATGTGGAGGATGGTGGTGATGATGGTGATGTGGTGATGGGGAGGATGA TGGTGATGAAGATGATGATGATGGTGATGGTGATT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0085 a0001c0001t0048g0085	1	106	0.0094	-134	c.170 others(21): Show c.170-157897_170-157764del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CERS5_chr12_50124289_50172369	50171635	ACCTTGGC others(127): Show ACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCG GCCTAATTTTTGTATTTTTATGAGACGAGGTTTCACCATGTTGGCCAGGC TGGTCTTAAACTCCTGACCTCAGGTGATCCGCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	320	0.0031	-134	c.-44 others(11): Show c.-4472_-4339del	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding		4267		chr12	TogoVar
CHMP1A_chr16_89639435_89662708	89648740	AATCAGCT others(127): Show AATCAGCTGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGG CTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCCA ACATAGACACCCTGTCTCTACTTAAAAATGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01106.hp2 others(8): Show HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01261.hp2 HG01346.hp1 HG03491.hp1 HG03654.hp1 HG03710.hp1 NA18990.hp2 NA19080.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0164 others(8): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205	11	392	0.0281	-134	c.252 others(15): Show c.252+477_252+610del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CLSTN2_chr3_139930185_140582397	140419655	ATATATAC others(127): Show ATATATACATATATGAATATGTATATACGTATATATACGTATATGAATAT GTATATATGTATATATACGTATATACATGTATATACGTATATATACACAT ATACGTGTATACACGTGTATACACGTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG00738.hp2 others(55): Show HG00621.hp1 HG00735.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG06807.hp1 NA18977.hp1 NA18977.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0006 others(14): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0002c0002 a0002c0004 a0002c0005 a0002c0007 a0002c0010 a0002c0016 a0002c0017 a0002c0022 a0002c0023 a0003c0012 a0004c0013 a0005c0011 a0006c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(36): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0029 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0003t0003 a0001c0003t0012 a0001c0006t0002 a0001c0006t0004 a0001c0008t0009 a0002c0002t0002 a0002c0002t0004 a0002c0002t0011 a0002c0002t0026 a0002c0002t0028 a0002c0002t0044 a0002c0004t0001 a0002c0004t0007 a0002c0004t0017 a0002c0004t0037 a0002c0004t0038 a0002c0005t0004 a0002c0007t0003 a0002c0010t0003 a0002c0010t0024 a0002c0016t0015 a0002c0017t0005 a0002c0022t0010 a0002c0023t0010 a0003c0012t0008 a0004c0013t0008 a0005c0011t0002 a0006c0020t0034	a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0048 others(55): Show a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0001t0005g0026 a0001c0001t0005g0035 a0001c0001t0005g0089 a0001c0001t0006g0040 a0001c0001t0006g0055 a0001c0001t0011g0031 a0001c0001t0013g0090 a0001c0001t0014g0001 a0001c0001t0014g0032 a0001c0001t0029g0016 a0001c0001t0036g0044 a0001c0001t0041g0047 a0001c0001t0042g0011 a0001c0001t0043g0064 a0001c0003t0003g0080 a0001c0003t0012g0052 a0001c0003t0012g0053 a0001c0006t0002g0012 a0001c0006t0004g0013 a0001c0008t0009g0042 a0001c0008t0009g0100 a0002c0002t0002g0054 a0002c0002t0002g0086 a0002c0002t0004g0107 a0002c0002t0011g0039 a0002c0002t0011g0103 a0002c0002t0026g0094 a0002c0002t0028g0005 a0002c0002t0044g0096 a0002c0004t0001g0072 a0002c0004t0007g0067 a0002c0004t0007g0085 a0002c0004t0017g0061 a0002c0004t0037g0073 a0002c0004t0038g0108 a0002c0005t0004g0038 a0002c0005t0004g0046 a0002c0005t0004g0077 a0002c0007t0003g0015 a0002c0007t0003g0043 a0002c0007t0003g0083 a0002c0010t0003g0109 a0002c0010t0024g0023 a0002c0016t0015g0088 a0002c0017t0005g0027 a0002c0022t0010g0020 a0002c0023t0010g0104 a0003c0012t0008g0014 a0003c0012t0008g0041 a0004c0013t0008g0099 a0004c0013t0008g0106 a0005c0011t0002g0087 a0005c0011t0002g0101 a0006c0020t0034g0102	58	110	0.5273	-134	c.638 others(17): Show c.638-1465_638-1332del	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146711819	AATATAGT others(127): Show AATATAGTATACACATCTTATGTATACAATATAGTATACACATCTTATGT ATACAATATAGTATACACATCTTATGTATACTATATAGTATACACATCTT ATGTATACTATATAGTATACACATCTTATGTATAC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	-134	c.98- others(17): Show c.98-62451_98-62318del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148409788	ACGCCTGT others(127): Show ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02451.hp1 others(19): Show HG00735.hp2 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02717.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 NA18522.hp2 NA19030.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0015 a0001c0018 a0001c0019 a0002c0017 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0008t0001 a0001c0010t0002 a0001c0011t0016 a0001c0015t0001 a0001c0018t0002 a0001c0019t0006 a0002c0017t0015 a0003c0007t0017	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0002g0013 a0001c0002t0002g0040 a0001c0002t0010g0002 a0001c0008t0001g0025 a0001c0010t0002g0014 a0001c0011t0016g0019 a0001c0015t0001g0011 a0001c0018t0002g0012 a0001c0019t0006g0015 a0002c0017t0015g0037 a0003c0007t0017g0031	22	40	0.5500	-134	c.379 others(17): Show c.3796+326_3796+459del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CSMD1_chr8_2930361_4999914	3135395	TGGCTTCT others(127): Show TGGCTTCTTCCCCTTTAAAACATGCTCTTGAGTGAAGTCTGCTGATCACA TTTCTGACTCTGTGAACCGGCTTCTTCCCCTTTAAAACATGCTCTTGAGT GAAGTCTGCTGATCACATTTCTGACTCTGTGAACC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02486.hp2 HG02723.hp2	a0002 a0005 a0002 a0005	a0002c0070 a0005c0065 a0002c0070 a0005c0065	a0002c0070t0046 a0005c0065t0023 a0002c0070t0046 a0005c0065t0023	a0002c0070t0046g0092 a0005c0065t0023g0050 a0002c0070t0046g0092 a0005c0065t0023g0050	2	126	0.0159	-134	c.624 others(19): Show c.6241+6936_6241+7069del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3135417	TGCTCTTG others(127): Show TGCTCTTGAGTGAAGTCTGCTGATCACATTTCTGACTCTGTGAACCGGCT TCTTCCCCTTTAAAACATGCTCTTGAGTGAAGTCTGCTGATCACATTTCT GACTCTGTGAACCGGCTTCTTCCCCTTTAAAACAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG02055.hp2 others(8): Show HG01123.hp1 HG01243.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02886.hp2 HG03209.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0008 a0009 a0027 a0029	a0001c0068 a0001c0115 a0002c0053 others(8): Show a0001c0068 a0001c0115 a0002c0053 a0002c0060 a0002c0078 a0003c0057 a0005c0064 a0008c0008 a0009c0113 a0027c0023 a0029c0028	a0001c0068t0015 a0001c0115t0042 a0002c0053t0022 others(8): Show a0001c0068t0015 a0001c0115t0042 a0002c0053t0022 a0002c0060t0006 a0002c0078t0044 a0003c0057t0080 a0005c0064t0051 a0008c0008t0082 a0009c0113t0011 a0027c0023t0001 a0029c0028t0024	a0001c0068t0015g0049 a0001c0115t0042g0055 a0002c0053t0022g0041 others(8): Show a0001c0068t0015g0049 a0001c0115t0042g0055 a0002c0053t0022g0041 a0002c0060t0006g0094 a0002c0078t0044g0064 a0003c0057t0080g0075 a0005c0064t0051g0078 a0008c0008t0082g0126 a0009c0113t0011g0043 a0027c0023t0001g0052 a0029c0028t0024g0040	11	126	0.0873	-134	c.624 others(19): Show c.6241+6914_6241+7047del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3135484	TGCTCTTG others(127): Show TGCTCTTGAGTGAAGTCTGCTGATCACATTTCTGACTCTGTGAACCGGCT TCTTCCCCTTTAAAACACGCTCTTGAGTGAAGTCTGCTGATCACATTTCT GACTCTGTGAACCGGCTTCTTCCCCTTTAAAACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02922.hp1 HG03130.hp2 others(1): Show HG01255.hp1 HG02922.hp1 HG03130.hp2 HG03195.hp2	a0002 a0013 a0015 others(1): Show a0002 a0013 a0015 a0018	a0002c0031 a0013c0027 a0015c0062 others(1): Show a0002c0031 a0013c0027 a0015c0062 a0018c0044	a0002c0031t0015 a0013c0027t0003 a0015c0062t0056 others(1): Show a0002c0031t0015 a0013c0027t0003 a0015c0062t0056 a0018c0044t0064	a0002c0031t0015g0001 a0013c0027t0003g0099 a0015c0062t0056g0062 others(1): Show a0002c0031t0015g0001 a0013c0027t0003g0099 a0015c0062t0056g0062 a0018c0044t0064g0085	4	126	0.0318	-134	c.624 others(19): Show c.6241+6847_6241+6980del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486122	CATATATA others(127): Show CATATATATATATATACATACATATATATATATATACATACATATATATA TATACATACATATATATATATATATATACATACATATATATATATATATA TATACATACATATATATATATATACATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18995.hp1 HG03834.hp2 NA18995.hp1	a0001 a0001	a0001c0040 a0001c0109 a0001c0040 a0001c0109	a0001c0040t0019 a0001c0109t0038 a0001c0040t0019 a0001c0109t0038	a0001c0040t0019g0123 a0001c0109t0038g0013 a0001c0040t0019g0123 a0001c0109t0038g0013	2	126	0.0159	-134	c.303 others(19): Show c.303-66191_303-66058del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CTU2_chr16_88701503_88720396	88710469	TGTGTGTG others(127): Show TGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATCAG AAGCTGGGTCCACAGCGCGTGTGTGCGGCCCACTCTCAGATGTGTTTACA GCAGGTGCACAAATCAGAAGCTGGGTCCACAGTGC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02630.hp1 HG02965.hp1 HG01192.hp2 HG02630.hp1 HG02965.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0031 a0004c0012t0001g0138 a0004c0012t0001g0031 a0004c0012t0001g0138	3	418	0.0072	-134	c.282 others(15): Show c.282+230_282+363del	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYTH1_chr17_78669048_78787273	78760383	ATACACAC others(127): Show ATACACACACATACATATATATATGTGTATATATATATATATACACATAC ATATATATATGTATATATATATACATACATATATATATGTATATATATGT ATGTATATATATATACATATATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01192.hp2 HG01257.hp2 others(5): Show HG00673.hp2 HG01192.hp2 HG01257.hp2 HG02572.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0002g0274 a0001c0001t0002g0311 a0001c0001t0002g0312 others(5): Show a0001c0001t0002g0274 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0003g0371 a0001c0001t0003g0374 a0001c0001t0007g0060 a0001c0001t0007g0204 a0001c0001t0008g0321	8	378	0.0212	-134	c.22+ others(17): Show c.22+21685_22+21818del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DAB2_chr5_39366677_39429980	39374241	TTGTTCTA others(127): Show TTGTTCTACCCCTACCAGCTGGCCTACCTGCTCTAAAATGGGGAGAGCGT TCCTTTCCCTACTAAATTCAGTCTTTTGAGATCAGAATAAAGTTGCTGTC ACCTTCTGTAGAGAAAGAGTTACACTGAGCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01952.hp1 others(3): Show HG00733.hp2 HG00741.hp2 HG01952.hp1 HG03486.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0049 a0001c0001t0005g0050 others(3): Show a0001c0001t0005g0042 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0060 a0001c0001t0005g0117 a0001c0001t0005g0178	6	414	0.0145	-134	c.5+ others(13): Show c.5+639_*5+772del	DAB2	ENSG00000153071.15	transcript	ENST00000320816.11	protein_coding	14/14			chr5	TogoVar
DGKD_chr2_233349494_233477098	233432110	TGCCAGGC others(127): Show TGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAA GGTGGGCGGATCACGAGGTCAGGAGATCGTGACCATCCTGGCTAACACGG TGAAACCTCGTCTCTATTAAAAATACAAAAAATTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02145.hp2 others(12): Show HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03516.hp1 NA19012.hp1 NA19043.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0039 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0039 a0001c0011t0002	a0001c0001t0002g0066 a0001c0001t0006g0002 a0001c0001t0006g0175 others(11): Show a0001c0001t0002g0066 a0001c0001t0006g0002 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0039g0186 a0001c0011t0002g0089	15	336	0.0446	-134	c.349 others(17): Show c.349-2257_349-2124del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233432129	TGCCTGTA others(127): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGT CAGGAGATCGTGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTATTA AAAATACAAAAAATTAGCCAGGCGTGGTTGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0244 a0001c0002t0004g0244	1	336	0.0030	-134	c.349 others(17): Show c.349-2207_349-2074del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233432173	CGAGGTCA others(127): Show CGAGGTCAGGAGATCGTGACCATCCTGGCTAACACGGTGAAACCTCGTCT CTATTAAAAATACAAAAAATTAGCCAGGCGTGGTTGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp2 NA18969.hp1 others(3): Show HG02027.hp1 HG02083.hp2 NA18969.hp1 NA18989.hp1 NA19002.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(3): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0052	6	336	0.0179	-134	c.349 others(17): Show c.349-2193_349-2060del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233432187	CGTGACCA others(127): Show CGTGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTATTAAAAATACA AAAAATTAGCCAGGCGTGGTTGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(56): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00741.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp2 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02132.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG03195.hp2 HG03490.hp1 HG03491.hp2 NA18612.hp2 NA18947.hp1 NA18952.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18991.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19055.hp1 NA19058.hp2 NA19065.hp1 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0014	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0031 a0001c0004t0044 a0001c0005t0018 a0001c0014t0040	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(56): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0085 a0001c0001t0002g0165 a0001c0001t0002g0178 a0001c0001t0002g0256 a0001c0001t0002g0266 a0001c0001t0005g0028 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0045 a0001c0001t0017g0054 a0001c0001t0017g0071 a0001c0001t0018g0055 a0001c0001t0020g0029 a0001c0001t0020g0032 a0001c0001t0027g0075 a0001c0001t0031g0015 a0001c0004t0044g0166 a0001c0005t0018g0315 a0001c0014t0040g0004	59	336	0.1756	-134	c.349 others(17): Show c.349-2186_349-2053del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233432207	CGGTGAAA others(127): Show CGGTGAAACCTCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCGTGGT TGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCA TGAGGTCAGGAGATTGTGACCCTCCTGGCTAACAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02040.hp2 HG02615.hp1 others(6): Show HG01891.hp2 HG02040.hp2 HG02615.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp1 HG03471.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0015 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0024 a0001c0007t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(6): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0283 a0001c0001t0015g0252 a0001c0001t0015g0253 a0001c0001t0024g0077 a0001c0007t0001g0258	9	336	0.0268	-134	c.349 others(17): Show c.349-2154_349-2021del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233432248	AGGCGTGG others(127): Show AGGCGTGGTTGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTG GGCGGATCATGAGGTCAGGAGATTGTGACCCTCCTGGCTAACATGGTGAA ACCTCGTCTCTACTAAAAATACAAAAAATTAGCCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18940.hp1 HG00408.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0289 a0001c0001t0002g0321 a0001c0001t0001g0289 a0001c0001t0002g0321	2	336	0.0060	-134	c.349 others(17): Show c.349-2094_349-1961del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233432286	GAGGCCAA others(127): Show GAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATTGTGACCCTCCTGGC TAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTTGCTCACGCCTGTAATCCCAGCACTTTGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00738.hp1 others(17): Show HG00323.hp2 HG00733.hp2 HG00738.hp1 HG01346.hp2 HG01884.hp1 HG02027.hp2 HG02257.hp2 HG02622.hp1 HG02818.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03209.hp1 HG03579.hp1 HG03688.hp1 HG06807.hp2 NA18940.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0003t0007 others(3): Show a0001c0001t0005 a0001c0003t0005 a0001c0003t0007 a0001c0003t0035 a0001c0003t0036 a0001c0003t0037	a0001c0001t0005g0154 a0001c0003t0005g0130 a0001c0003t0005g0137 others(17): Show a0001c0001t0005g0154 a0001c0003t0005g0130 a0001c0003t0005g0137 a0001c0003t0005g0140 a0001c0003t0005g0141 a0001c0003t0005g0142 a0001c0003t0005g0144 a0001c0003t0005g0145 a0001c0003t0005g0146 a0001c0003t0005g0147 a0001c0003t0005g0149 a0001c0003t0007g0131 a0001c0003t0007g0132 a0001c0003t0007g0136 a0001c0003t0007g0138 a0001c0003t0007g0139 a0001c0003t0007g0143 a0001c0003t0035g0133 a0001c0003t0036g0155 a0001c0003t0037g0231	20	336	0.0595	-134	c.349 others(17): Show c.349-2079_349-1946del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233432342	GGTGAAAC others(127): Show GGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTT GCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGGGCAGATCAT GAGGTCAGGAGATCGTGACCATCCTGGCTAACACA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02129.hp2 others(6): Show HG00621.hp2 HG00673.hp1 HG02129.hp2 HG02132.hp2 HG02970.hp2 NA18951.hp1 NA18983.hp1 NA18991.hp2 NA19075.hp1	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0002 a0001c0003t0007 a0001c0003t0019 others(1): Show a0001c0003t0002 a0001c0003t0007 a0001c0003t0019 a0001c0012t0002	a0001c0003t0002g0088 a0001c0003t0007g0080 a0001c0003t0007g0081 others(6): Show a0001c0003t0002g0088 a0001c0003t0007g0080 a0001c0003t0007g0081 a0001c0003t0007g0083 a0001c0003t0007g0084 a0001c0003t0007g0274 a0001c0003t0019g0079 a0001c0003t0019g0086 a0001c0012t0002g0249	9	336	0.0268	-134	c.349 others(17): Show c.349-1999_349-1866del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2228062	GAGGAAGG others(127): Show GAGGAAGGGAGAGGGGAAGGGAGGGAGGGAAGGAGGGAGGAAGGGAGGGA GGGAGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGA GGGGGGAAGGGAGGGAGGGAGGGGGGAAGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0032 a0004c0004t0009g0032	1	50	0.0200	-134	c.805 others(17): Show c.805-6967_805-6834del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIXDC1_chr11_111932343_112027653	111970157	CTGATTCT others(127): Show CTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCATGCGC CACCATGCCTGGCTTATTTTTGTATTTTTGTAGAGACGGGATTTCATCAT GTTGGCCAGCGTGGTCTCGAACTCCTGACCTCAAG	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	278	0.0036	-134	c.316 others(17): Show c.316+1524_316+1657del	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
ECI1_chr16_2234402_2256587	2254549	GGCCTCCC others(127): Show GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTAGGCCTA ATTTTTATATTTTTTGTACGGATGGGGTTTCACCATGTTGGCCAGGATGG TCTCGACCTCCTGACCTTGTGATCCACCCACCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	-134	c.-31 others(11): Show c.-3117_-2984del	ECI1	ENSG00000167969.13	transcript	ENST00000301729.9	protein_coding		2963		chr16	TogoVar
EHMT1_chr9_137614005_137841127	137780604	GCTGGGAT others(127): Show GCTGGGATGTGTGGTGATGACGCTGAGATGTGTGGTGATGACGGCATCTC ACTGAGATGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGAC GTGTGGTGATGACGCCGGTATGTGTGGTGATGACA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG01884.hp1 others(22): Show HG00642.hp1 HG01192.hp2 HG01884.hp1 HG01891.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0001c0009 others(4): Show a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0018 a0003c0023 a0003c0024	a0001c0003t0001 a0001c0005t0001 a0001c0009t0001 others(4): Show a0001c0003t0001 a0001c0005t0001 a0001c0009t0001 a0001c0016t0001 a0001c0018t0001 a0003c0023t0001 a0003c0024t0001	a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 others(22): Show a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0048 a0001c0005t0001g0063 a0001c0005t0001g0073 a0001c0005t0001g0116 a0001c0005t0001g0117 a0001c0005t0001g0128 a0001c0009t0001g0061 a0001c0009t0001g0142 a0001c0009t0001g0170 a0001c0016t0001g0029 a0001c0018t0001g0062 a0003c0023t0001g0075 a0003c0024t0001g0074	25	170	0.1471	-134	c.227 others(18): Show c.2275+912_2275+1045del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML5_chr14_88607431_88797953	88796309	TATTATAT others(127): Show TATTATATGTTATATATATTATATATATATTATATGTTATATATTTTATA TATATATTATATGTTATATATATTATATATATATTATATGTTATATATTT TATATATATATTATATGTTATATATATTATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	332	0.0030	-134	c.-39 others(11): Show c.-3940_-3807del	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3357		chr14	TogoVar
ESYT2_chr7_158725997_158834509	158729460	GGGGAGGA others(127): Show GGGGAGGAGCAAGCGTGGAGGTGCTGGGGGGAGGAGCAGGTGTGGAGATA GTGGGGGAGGAGCAAGCGTGGAGGCGGGAGGGTTGGAGCAGGTGTGGAGG TGCTGTGGAAGAGGGGCAAGTGAGGATGTGCTGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02280.hp2 HG02717.hp1 others(2): Show HG00621.hp2 HG02280.hp2 HG02717.hp1 NA18966.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0042 a0002c0002t0002 a0002c0002t0042	a0002c0002t0002g0259 a0002c0002t0002g0280 a0002c0002t0002g0281 others(2): Show a0002c0002t0002g0259 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0365 a0002c0002t0042g0027	5	370	0.0135	-134	c.46 others(11): Show c.4613_*4746del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1536		chr7	TogoVar
EXD3_chr9_137301896_137428162	137341524	AGGAGTCA others(127): Show AGGAGTCAGAGGAAACGGGGCTCAGGCACCAGGAGCCATCTCCCAGGAGT CAGAGGAAACGGGGCTCAGGCACCAGGAGCCGTCTCCCAGGAGTCAGAGG AAACGGGGCTCAGGCACCAGGAGCCGTCTCCCAGG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	82	0.0122	-134	c.199 others(19): Show c.1998+6413_1998+6546del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FADS2_chr11_61823300_61872354	61867909	TGGTGAAA others(127): Show TGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCCGGGTGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.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 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0003t0003 a0001c0004t0011 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(240): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0003g0027 a0001c0001t0003g0128 a0001c0001t0003g0133 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0004g0042 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0105 a0001c0001t0004g0121 a0001c0001t0005g0008 a0001c0001t0005g0041 a0001c0001t0005g0053 a0001c0001t0005g0062 a0001c0001t0006g0023 a0001c0001t0006g0102 a0001c0001t0006g0123 a0001c0001t0006g0132 a0001c0001t0007g0074 a0001c0001t0007g0085 a0001c0001t0007g0206 a0001c0001t0007g0259 a0001c0001t0008g0129 a0001c0001t0008g0131 a0001c0001t0008g0151 a0001c0001t0009g0127 a0001c0001t0009g0140 a0001c0001t0010g0157 a0001c0001t0012g0154 a0001c0001t0013g0228 a0001c0001t0014g0155 a0001c0002t0001g0208 a0001c0003t0003g0142 a0001c0004t0011g0028 a0001c0005t0001g0107	262	280	0.9357	-134	c.22 others(11): Show c.2221_*2354del	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		556		chr11	TogoVar
FAM161A_chr2_61819848_61859060	61848958	ATATTTAT others(127): Show ATATTTATATATATATATATTTATATATTTATATATATTTATATATATAT TTATATATTTATATATATTTATATATATATTTATATATTTATATATATTT ATATATATATAAATATATATATTTATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0015 a0008c0018t0015	a0008c0018t0015g0279 a0008c0018t0015g0279	1	400	0.0025	-134	c.183 others(17): Show c.183+4767_183+4900del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FBRSL1_chr12_132485151_132590188	132564613	AGCCTCCC others(127): Show AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCTCCTCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(250): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0000 a0001 a0002 others(27): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0019 a0020 a0021 a0022 a0023 a0025 a0026 a0029 a0030 a0031 a0032 a0033 a0034	a0000c0009 a0000c0014 a0000c0019 others(65): Show a0000c0009 a0000c0014 a0000c0019 a0000c0020 a0000c0022 a0000c0023 a0000c0030 a0000c0035 a0000c0036 a0000c0039 a0000c0042 a0000c0043 a0000c0057 a0000c0062 a0000c0063 a0000c0084 a0000c0085 a0000c0089 a0001c0005 a0001c0011 a0001c0012 a0001c0086 a0002c0002 a0002c0004 a0002c0024 a0002c0050 a0002c0055 a0002c0074 a0002c0081 a0002c0087 a0003c0001 a0003c0007 a0003c0044 a0003c0046 a0003c0048 a0004c0013 a0004c0025 a0005c0031 a0005c0032 a0005c0052 a0006c0008 a0007c0010 a0008c0027 a0008c0028 a0008c0045 a0008c0047 a0009c0017 a0010c0034 a0011c0016 a0012c0018 a0013c0033 a0013c0060 a0014c0038 a0016c0026 a0017c0029 a0019c0082 a0020c0083 a0021c0076 a0022c0075 a0023c0073 a0025c0056 a0026c0072 a0029c0059 a0030c0078 a0031c0049 a0032c0040 a0033c0041 a0034c0088	a0000c0009t0001 a0000c0009t0003 a0000c0009t0008 others(111): Show a0000c0009t0001 a0000c0009t0003 a0000c0009t0008 a0000c0014t0001 a0000c0014t0003 a0000c0014t0033 a0000c0019t0006 a0000c0019t0011 a0000c0020t0010 a0000c0022t0001 a0000c0023t0002 a0000c0030t0019 a0000c0035t0007 a0000c0035t0048 a0000c0036t0001 a0000c0036t0003 a0000c0039t0005 a0000c0039t0023 a0000c0042t0001 a0000c0043t0011 a0000c0057t0011 a0000c0062t0055 a0000c0063t0051 a0000c0084t0036 a0000c0085t0005 a0000c0089t0008 a0001c0005t0005 a0001c0005t0006 a0001c0005t0011 a0001c0011t0019 a0001c0011t0039 a0001c0011t0040 a0001c0011t0046 a0001c0011t0049 a0001c0012t0009 a0001c0086t0009 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0024 a0002c0002t0025 a0002c0002t0044 a0002c0002t0053 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0031 a0002c0004t0034 a0002c0004t0054 a0002c0024t0002 a0002c0050t0001 a0002c0055t0002 a0002c0074t0002 a0002c0081t0002 a0002c0087t0010 a0003c0001t0001 a0003c0001t0003 a0003c0001t0004 a0003c0001t0008 a0003c0001t0017 a0003c0001t0030 a0003c0001t0032 a0003c0007t0012 a0003c0007t0043 a0003c0044t0003 a0003c0046t0003 a0003c0048t0001 a0004c0013t0005 a0004c0025t0015 a0004c0025t0023 a0005c0031t0001 a0005c0031t0029 a0005c0032t0002 a0005c0052t0006 a0006c0008t0005 a0006c0008t0007 a0006c0008t0025 a0007c0010t0005 a0007c0010t0015 a0007c0010t0041 a0008c0027t0011 a0008c0027t0026 a0008c0028t0009 a0008c0045t0004 a0008c0047t0004 a0009c0017t0005 a0009c0017t0009 a0010c0034t0005 a0010c0034t0006 a0011c0016t0002 a0011c0016t0003 a0012c0018t0009 a0012c0018t0011 a0013c0033t0002 a0013c0033t0007 a0013c0060t0002 a0014c0038t0002 a0016c0026t0001 a0016c0026t0003 a0017c0029t0001 a0017c0029t0003 a0019c0082t0005 a0020c0083t0005 a0021c0076t0015 a0022c0075t0038 a0023c0073t0002 a0025c0056t0052 a0026c0072t0002 a0029c0059t0002 a0030c0078t0047 a0031c0049t0005 a0032c0040t0001 a0033c0041t0001 a0034c0088t0028	a0000c0009t0001g0161 a0000c0009t0001g0224 a0000c0009t0001g0227 others(249): Show a0000c0009t0001g0161 a0000c0009t0001g0224 a0000c0009t0001g0227 a0000c0009t0001g0231 a0000c0009t0003g0229 a0000c0009t0008g0179 a0000c0014t0001g0148 a0000c0014t0001g0208 a0000c0014t0003g0191 a0000c0014t0033g0165 a0000c0019t0006g0127 a0000c0019t0011g0313 a0000c0020t0010g0126 a0000c0022t0001g0118 a0000c0022t0001g0124 a0000c0022t0001g0134 a0000c0023t0002g0244 a0000c0023t0002g0288 a0000c0023t0002g0296 a0000c0030t0019g0145 a0000c0030t0019g0147 a0000c0035t0007g0274 a0000c0035t0048g0312 a0000c0036t0001g0138 a0000c0036t0003g0310 a0000c0039t0005g0324 a0000c0039t0023g0331 a0000c0042t0001g0219 a0000c0043t0011g0177 a0000c0057t0011g0066 a0000c0062t0055g0142 a0000c0063t0051g0086 a0000c0084t0036g0320 a0000c0085t0005g0321 a0000c0089t0008g0162 a0001c0005t0005g0103 a0001c0005t0005g0115 a0001c0005t0006g0094 a0001c0005t0006g0095 a0001c0005t0006g0096 a0001c0005t0006g0099 a0001c0005t0006g0101 a0001c0005t0006g0102 a0001c0005t0006g0266 a0001c0005t0006g0267 a0001c0005t0006g0268 a0001c0005t0006g0295 a0001c0005t0011g0125 a0001c0005t0011g0144 a0001c0011t0019g0146 a0001c0011t0039g0339 a0001c0011t0040g0338 a0001c0011t0046g0239 a0001c0011t0049g0340 a0001c0012t0009g0088 a0001c0012t0009g0089 a0001c0086t0009g0129 a0002c0002t0002g0003 a0002c0002t0002g0060 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0261 a0002c0002t0002g0269 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0298 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0337 a0002c0002t0003g0282 a0002c0002t0007g0253 a0002c0002t0007g0257 a0002c0002t0007g0275 a0002c0002t0007g0278 a0002c0002t0007g0294 a0002c0002t0007g0308 a0002c0002t0024g0079 a0002c0002t0024g0080 a0002c0002t0025g0306 a0002c0002t0044g0279 a0002c0002t0053g0307 a0002c0004t0001g0092 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0120 a0002c0004t0001g0121 a0002c0004t0001g0130 a0002c0004t0001g0133 a0002c0004t0001g0137 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0001g0263 a0002c0004t0003g0104 a0002c0004t0003g0122 a0002c0004t0003g0273 a0002c0004t0008g0071 a0002c0004t0008g0087 a0002c0004t0008g0309 a0002c0004t0031g0128 a0002c0004t0034g0107 a0002c0004t0054g0281 a0002c0024t0002g0265 a0002c0024t0002g0342 a0002c0024t0002g0343 a0002c0050t0001g0090 a0002c0055t0002g0037 a0002c0074t0002g0150 a0002c0081t0002g0344 a0002c0087t0010g0149 a0003c0001t0001g0002 a0003c0001t0001g0152 a0003c0001t0001g0153 a0003c0001t0001g0155 a0003c0001t0001g0160 a0003c0001t0001g0172 a0003c0001t0001g0173 a0003c0001t0001g0174 a0003c0001t0001g0178 a0003c0001t0001g0198 a0003c0001t0001g0201 a0003c0001t0001g0202 a0003c0001t0001g0203 a0003c0001t0001g0204 a0003c0001t0001g0205 a0003c0001t0001g0206 a0003c0001t0001g0207 a0003c0001t0001g0210 a0003c0001t0001g0211 a0003c0001t0001g0212 a0003c0001t0001g0215 a0003c0001t0001g0216 a0003c0001t0001g0218 a0003c0001t0001g0220 a0003c0001t0001g0228 a0003c0001t0001g0230 a0003c0001t0001g0232 a0003c0001t0001g0233 a0003c0001t0001g0234 a0003c0001t0003g0154 a0003c0001t0003g0187 a0003c0001t0003g0188 a0003c0001t0003g0193 a0003c0001t0003g0197 a0003c0001t0003g0222 a0003c0001t0003g0223 a0003c0001t0004g0192 a0003c0001t0008g0156 a0003c0001t0008g0157 a0003c0001t0008g0180 a0003c0001t0008g0181 a0003c0001t0008g0182 a0003c0001t0008g0185 a0003c0001t0008g0186 a0003c0001t0017g0168 a0003c0001t0017g0169 a0003c0001t0017g0171 a0003c0001t0030g0189 a0003c0001t0032g0170 a0003c0007t0012g0158 a0003c0007t0012g0159 a0003c0007t0012g0163 a0003c0007t0012g0164 a0003c0007t0012g0196 a0003c0007t0012g0235 a0003c0007t0043g0176 a0003c0044t0003g0214 a0003c0046t0003g0221 a0003c0048t0001g0199 a0004c0013t0005g0317 a0004c0013t0005g0322 a0004c0013t0005g0325 a0004c0013t0005g0327 a0004c0013t0005g0329 a0004c0025t0015g0285 a0004c0025t0015g0287 a0004c0025t0023g0277 a0005c0031t0001g0258 a0005c0031t0029g0061 a0005c0032t0002g0017 a0005c0032t0002g0316 a0005c0052t0006g0093 a0006c0008t0005g0252 a0006c0008t0007g0151 a0006c0008t0007g0236 a0006c0008t0007g0254 a0006c0008t0007g0255 a0006c0008t0007g0256 a0006c0008t0025g0251 a0007c0010t0005g0237 a0007c0010t0005g0319 a0007c0010t0005g0323 a0007c0010t0005g0328 a0007c0010t0015g0332 a0007c0010t0041g0330 a0008c0027t0011g0183 a0008c0027t0026g0175 a0008c0028t0009g0190 a0008c0045t0004g0200 a0008c0047t0004g0209 a0009c0017t0005g0333 a0009c0017t0005g0335 a0009c0017t0005g0336 a0009c0017t0009g0334 a0010c0034t0005g0116 a0010c0034t0006g0100 a0011c0016t0002g0091 a0011c0016t0002g0259 a0011c0016t0002g0260 a0011c0016t0003g0303 a0012c0018t0009g0065 a0012c0018t0011g0063 a0012c0018t0011g0064 a0013c0033t0002g0247 a0013c0033t0007g0280 a0013c0060t0002g0003 a0014c0038t0002g0276 a0014c0038t0002g0345 a0016c0026t0001g0167 a0016c0026t0003g0194 a0017c0029t0001g0195 a0017c0029t0003g0166 a0019c0082t0005g0318 a0020c0083t0005g0326 a0021c0076t0015g0286 a0022c0075t0038g0123 a0023c0073t0002g0238 a0025c0056t0052g0085 a0026c0072t0002g0240 a0029c0059t0002g0311 a0030c0078t0047g0293 a0031c0049t0005g0225 a0032c0040t0001g0213 a0033c0041t0001g0217 a0034c0088t0028g0341	253	348	0.7270	-134	c.646 others(17): Show c.646-2779_646-2646del	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132564741	CTCCTCGG others(127): Show CTCCTCGGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCA GGATGGTCTCGATCTGCTGACCTCGTGATCCGCCG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02970.hp1 others(1): Show HG02055.hp2 HG02109.hp1 HG02970.hp1 HG03130.hp2	a0000 a0001 a0015 a0000 a0001 a0015	a0000c0071 a0001c0003 a0015c0037 a0000c0071 a0001c0003 a0015c0037	a0000c0071t0018 a0001c0003t0026 a0015c0037t0018 a0000c0071t0018 a0001c0003t0026 a0015c0037t0018	a0000c0071t0018g0069 a0001c0003t0026g0062 a0015c0037t0018g0070 others(1): Show a0000c0071t0018g0069 a0001c0003t0026g0062 a0015c0037t0018g0070 a0015c0037t0018g0072	4	348	0.0115	-134	c.646 others(17): Show c.646-2739_646-2606del	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18			chr12	TogoVar

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