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
GRTP1_chr13_113319163_113369130	113346907	TGAGAGCG others(199): Show TGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACC TCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCA	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19088.hp1 NA18946.hp2 NA19088.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0008 a0001c0001 a0013c0008	a0001c0001t0001 a0013c0008t0001 a0001c0001t0001 a0013c0008t0001	a0001c0001t0001g0094 a0013c0008t0001g0054 a0001c0001t0001g0094 a0013c0008t0001g0054	2	188	0.0106	-206	c.466 others(17): Show c.466-2154_466-1949del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540771	ATATATAT others(199): Show ATATATATATATATATATAATATAAATATATTAGTTATATAATATATACA TATATTATATATGATATATAATACATACATATATTATATATGATATATAA TACATACATATATTATATATGATATATAATACATACATATATTATATATG ATATATAATATATACATATATTATATATGATATATAAATATAGATTATAT GTTAGAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	141	0.0071	-206	c.772 others(19): Show c.772+56401_772+56606del	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367063	GGGTGAGC others(199): Show GGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTG AGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGG GGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGA GCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGCGCGGG GTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0091 a0001c0001t0011g0091	1	109	0.0092	-206	c.874 others(17): Show c.874+1814_874+2019del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAM3_chr11_134064072_134157001	134093672	GCCCTCCT others(199): Show GCCCTCCTTATTCATCATGTTCCACCTTACATGTCACTTCCTGAGGGAAG CTTCTCCTGAACCCTCCTTATTCATCATGTTCCACCTTACACGTCACTTC CTGAGGGAAGCTTCTCCTGAACCCTCCTTATTCATCATGTTCCACCTTAC ATCTTATTCATCATGTTCCATCTTACATGTCACTTCCTGAGGGAAGCTTC TCCTGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	388	0.0026	-206	c.76+ others(17): Show c.76+24602_76+24807del	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63455861	CTCACGGG others(199): Show CTCACGGGCCCCCCACCTCCGGGAGACCCCTGTGCTCACGGGCCCCCCAC CTCCGGGAGGCCCCTCTGCTCACGGGCCCCCCACCTCCGGGAGGCCCCTC TGCTCACGGGCCCCCCACCTCCGGGAGGCCCCTCTGCTTCACGGGCCCCC CACCTCCGGGAGGCCCCTCTGCTCACGGGCCCCCCACCTCCGGGAGGCCC CTCTGCT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0170 a0001c0002t0023g0170	1	252	0.0040	-206	c.297 others(17): Show c.297-9230_297-9025del	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
LATS2_chr13_20968036_21066586	21007531	GATATATA others(199): Show GATATATATATATAGTATATATATATATATATATATATATATATATATAT ATATATAGTATATATATATATAGTGTGTATATATATATATAGTGTATATA TATATATATATATAGTGTGTGTATATATATATAGTGTGTATATATATATA TAGTATATATATATATATAGTATGTATATATATATATATATAGTATATAT ATATAGT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0028 a0004c0004t0028	a0004c0004t0028g0027 a0004c0004t0028g0027	1	275	0.0036	-206	c.343 others(19): Show c.343-16333_343-16128del	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
ME3_chr11_86436108_86677616	86573502	GTTGCTTA others(199): Show GTTGCTTATCAGCTTAAGGAGTTGTTGGTCTGACAGACGGGAGTTTTCTA AATATAGAGTCATGTCATCTGCAAACAGAGACAATTTGACTTCCTCTCTT CCTATCTGAATACACTTTATTTCTTTCTCTTGTCTGATTGCCCTGGCCAG AACTTCCAATACTATGTTAAATAGGAGTGGAGAGAGACAGCATCCTTGTC TTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA21309.hp1 HG02615.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0178 a0001c0001t0001g0042 a0001c0001t0001g0178	2	318	0.0063	-206	c.184 others(19): Show c.184-13885_184-13680del	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
METAP1D_chr2_171994953_172087430	172042466	TATACATA others(199): Show TATACATATGTGTGTGTACATGTGTACATATATACATATATACATATGTA TGTGTACATGTGTACATATATACATATATGTGTGTATGTGTACATGTGCA CATATATACATATATGTGTGTATGTGTACATGTGCACATATATACATATA TGTGTGTATGTGTACACATATACATATGTGTGTATGTGTATATGTGTACA CATATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG02132.hp2 others(4): Show HG00408.hp1 HG00621.hp2 HG02132.hp2 HG02523.hp2 NA18747.hp1 NA18949.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0002g0292 others(4): Show a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0002g0292 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315	7	353	0.0198	-206	c.41- others(17): Show c.41-19031_41-18826del	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9			chr2	TogoVar
METTL26_chr16_629430_641305	631835	GCCTCTCC others(199): Show GCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCAT CCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCAC TCCTCCCATCCACTTTTTCCATCCTCTTCTCTCACCCCGTCATTGCCTCT CCTTCCATCCTCTCCTCCCATCCACTTCTCCCACCCCTTCACTGCCTCTC CTCCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	401	0.0025	-206	c.25 others(11): Show c.2556_*2761del	METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding		2594		chr16	TogoVar
MMEL1_chr1_2585639_2638016	2592356	CCCCCTCC others(199): Show CCCCCTCCCCTGCTGTGCTGGCACCCCCTCCCCTGCCGCGCTGATGCCCC CTCCCCTGATGCACTGGCGCCCCCTCCCCTGCCATGCTGACGCCCCCTCC CCTGCCGTGCTGGCGCCCCCTCCCCTGCCGCGCTGACGCCCCCTCCCCTG CCGCGCTGACGCCCCCTCCCCTGCCGCGCTGATGCCCCCTCCCCTGCCGT GCTGGCG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19083.hp2 HG02083.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0057 a0002c0002t0003g0080 a0002c0002t0001g0057 a0002c0002t0003g0080	2	342	0.0058	-206	c.206 others(16): Show c.2067+93_2067+298del	MMEL1	ENSG00000142606.16	transcript	ENST00000378412.8	protein_coding	21/23			chr1	TogoVar
MOBP_chr3_39462680_39508027	39468803	CATATGTG others(199): Show CATATGTGTGTGTATACATATTACATATGTGTGTATATATACATATATAC ATGAGTGTGTATATATACATATATACATATGTGTGTGTATATATACATAT ATACATATGAGTGTGTATATATACATATATACATTGTGTGTATATATACA TATATACATATGTGTGTGTATATATACATATATACATATGTGTGTGTATA TATACAT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19006.hp2 NA18993.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0164 a0001c0001t0002g0165	2	398	0.0050	-206	c.-89 others(17): Show c.-89+1068_-89+1273del	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MROH2A_chr2_233773330_233838418	233790460	TCCTCCCT others(199): Show TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTTTCCTTTT TAATTGCCTGCCTTACTTACTCTTTCCCCTCCCTCCCCCTTTCTTTTTCT CCTTCCTTCCTTCCTTCCTCCCTCCCCTCCCCTTTCCCTCACCTCCCCTC CCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01496.hp2 others(8): Show HG00741.hp2 HG01261.hp2 HG01496.hp2 HG02071.hp1 HG02965.hp2 HG03516.hp2 HG03704.hp2 HG03927.hp2 NA18906.hp2 NA18995.hp2 NA19058.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0008 a0010 a0013 a0084 a0103	a0001c0013 a0001c0027 a0002c0016 others(8): Show a0001c0013 a0001c0027 a0002c0016 a0004c0007 a0004c0036 a0008c0018 a0010c0039 a0013c0019 a0013c0109 a0084c0181 a0103c0100	a0001c0013t0001 a0001c0027t0001 a0002c0016t0001 others(8): Show a0001c0013t0001 a0001c0027t0001 a0002c0016t0001 a0004c0007t0001 a0004c0036t0001 a0008c0018t0001 a0010c0039t0001 a0013c0019t0001 a0013c0109t0001 a0084c0181t0001 a0103c0100t0001	a0001c0013t0001g0115 a0001c0027t0001g0104 a0002c0016t0001g0173 others(8): Show a0001c0013t0001g0115 a0001c0027t0001g0104 a0002c0016t0001g0173 a0004c0007t0001g0113 a0004c0036t0001g0112 a0008c0018t0001g0272 a0010c0039t0001g0040 a0013c0019t0001g0114 a0013c0109t0001g0103 a0084c0181t0001g0047 a0103c0100t0001g0135	11	302	0.0364	-206	c.571 others(15): Show c.571+458_571+663del	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2086072	CCCCTACT others(199): Show CCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTG TGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTC TTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATC TCTGGCA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0023 a0023	a0023c0021 a0023c0021	a0023c0021t0001 a0023c0021t0001	a0023c0021t0001g0354 a0023c0021t0001g0354	1	381	0.0026	-206	c.164 others(17): Show c.1644+686_1644+891del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086076	TACTGTCG others(199): Show TACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGC CCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCG TGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTG TGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTG GCACCCC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0102 a0007c0010t0001g0102	1	262	0.0038	-206	c.164 others(17): Show c.1644+701_1644+906del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086106	TGTTGTGA others(199): Show TGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCC CCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCC CCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGG CCCCACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTCCGCGTGGCC CCCCACA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0007 a0007	a0007c0067 a0007c0067	a0007c0067t0001 a0007c0067t0001	a0007c0067t0001g0244 a0007c0067t0001g0244	1	390	0.0026	-206	c.164 others(17): Show c.1644+719_1644+924del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086181	CCACTGTC others(199): Show CCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTTGTGGCC CCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCACC CCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGG CCCCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGC GTGGCCT	C C	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0087 a0087	a0087c0213 a0087c0213	a0087c0213t0005 a0087c0213t0005	a0087c0213t0005g0145 a0087c0213t0005g0145	1	384	0.0026	-206	c.164 others(17): Show c.1644+793_1644+998del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64176021	TCTCCTGT others(199): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCG TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTG GCGTCTC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04199.hp1 HG03942.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0030 a0001c0005t0001g0031 a0001c0005t0001g0030 a0001c0005t0001g0031	2	182	0.0110	-206	c.-99 others(19): Show c.-99+11289_-99+11494del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NKD2_chr5_1003802_1043943	1022342	TGTCTCAG others(199): Show TGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGC CCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCC CTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTC CCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGC TGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG01175.hp1 others(9): Show HG00099.hp1 HG00544.hp1 HG01175.hp1 HG01358.hp2 HG02135.hp1 HG02165.hp1 HG03239.hp2 HG04228.hp1 NA18965.hp1 NA19011.hp1 NA19057.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 others(9): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0229 a0001c0001t0014g0145	12	147	0.0816	-206	c.142 others(17): Show c.142-9799_142-9594del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1022748	TGTGGGTG others(199): Show TGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTG TCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCC GTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCC TGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCC CACCTGC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04115.hp1 NA18962.hp1 HG02602.hp1 HG04115.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0266 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0266	3	317	0.0095	-206	c.142 others(17): Show c.142-9403_142-9198del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1022870	GCTAGTGG others(199): Show GCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGG TGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCTGCTGTGGGCGTCTCAGC CCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCC CTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTC CCACCCT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0116 a0001c0001t0010g0116	1	286	0.0035	-206	c.142 others(17): Show c.142-9279_142-9074del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025627	GTCCCAGC others(199): Show GTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCTCAGCC CATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCC CACCCTCTGTGGGTGCCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTA GTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01515.hp1 NA18747.hp2 HG01168.hp2 HG01515.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0051 a0001c0001t0001g0212 a0001c0010t0001g0187 a0001c0001t0001g0051 a0001c0001t0001g0212 a0001c0010t0001g0187	3	318	0.0094	-206	c.142 others(17): Show c.142-6522_142-6317del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025659	TCTGTGGG others(199): Show TCTGTGGGTGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGC GTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCC CATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGCCCCAGCCCATTGTCCC TGCTCTTCCCACCCGCTAGTGGGCATCTCAGCCCGTTGTCCCTGCTCTTC CCACCCG	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	174	0.0057	-206	c.142 others(17): Show c.142-6485_142-6280del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025988	GCTAGTGG others(199): Show GCTAGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGG CGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGC CCATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGCCCCAGCCCATTGTCC CTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTC CCACCCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0121 a0001c0001t0012g0121	1	313	0.0032	-206	c.142 others(17): Show c.142-6161_142-5956del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NOP56_chr20_2647632_2663393	2648884	GCGCCACT others(199): Show GCGCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCGTCTCAAATA ATAATAATAATAATAATAATAATAATAATAATAATAATAAAATAAAATAA AATAAAATAAAAATACAAAAATTAGCCAGGTGTGGTGCCAGACGCCTGTA ATCCCAGCTACTCAGAAGGCTGAACCAGGAAGTGGAGCTTGCAGTGAGCC GAGATCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02965.hp2 HG01891.hp1 HG02145.hp2 HG02965.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0011 a0004c0007t0001g0011	3	446	0.0067	-206	c.-37 others(11): Show c.-3776_-3571del	NOP56	ENSG00000101361.17	transcript	ENST00000329276.10	protein_coding		3747		chr20	TogoVar
NSMF_chr9_137442570_137464334	137451075	CACGCCTC others(199): Show CACGCCTCTTCCCCTTGATCTTCCCCTGCCACACGTCTCTTCCCCTTGAT CTCCCGCGCCACACGCCTCTTCCCCTTGTTCTGCCCTCCACGCCTCTTCC CCTTGGTCTTCCCCACCACACGCCTCTTCCCCTTGGTCTCCCCCGCCACG TCTCTTCCCCTTGGTCTTCCTTGGCCACACGCCTCTTCCCCTTGATCTCC CCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 NA20129.hp1 HG02145.hp1 HG03130.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0114 a0001c0001t0001g0034 a0001c0001t0001g0114	3	412	0.0073	-206	c.123 others(18): Show c.1237-1026_1237-821del	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
OSBPL2_chr20_62233521_62301183	62270763	CCCTCTCT others(199): Show CCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTC CTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGGTC CTCTCCTTGTCCCTCTCTGGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCT GGCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGGGTCCTCTCCTTGTCCC TCTCTGG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	338	0.0030	-206	c.259 others(17): Show c.259-1315_259-1110del	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
PARVB_chr22_44019302_44177939	44114405	GGCCCTGC others(199): Show GGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCACCAA CACAGATACATTGTTACTAACTAAGGCCCTGCACCAGCACAGATATATTG TTACTAAGGCCCTGTACCAACACAGATACATTGTTACTAACTAAGGCCCT GCACCAACACAGATATGTTGTTACTAAGGCCCTGCACCAACACAGATACA TTGTTAC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04204.hp1 NA18960.hp1 HG03688.hp2 HG04204.hp1 NA18960.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0026 a0001c0001 a0011c0026	a0001c0001t0001 a0011c0026t0001 a0001c0001t0001 a0011c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0239 a0011c0026t0001g0277 a0001c0001t0001g0002 a0001c0001t0001g0239 a0011c0026t0001g0277	3	323	0.0093	-206	c.274 others(17): Show c.274-4632_274-4427del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12			chr22	TogoVar
PRKD1_chr14_29571479_29932847	29826286	ATATATAC others(199): Show ATATATACATATATATGATGGAATATATATATACATATATATGATGGAAT ATATATATACATATATATGATGGAATATATATATACATATATATGATGGA ATATATATATACATATATATGATGGAATATATATATACATATATGATGGA ATATATATATACATATATATGATGGAATATATATACATATATATGATGGA ATATATG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0154	1	156	0.0064	-206	c.264 others(21): Show c.264+100757_265-100613del	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRXL2B_chr1_2581777_2596468	2592356	CCCCCTCC others(199): Show CCCCCTCCCCTGCTGTGCTGGCACCCCCTCCCCTGCCGCGCTGATGCCCC CTCCCCTGATGCACTGGCGCCCCCTCCCCTGCCATGCTGACGCCCCCTCC CCTGCCGTGCTGGCGCCCCCTCCCCTGCCGCGCTGACGCCCCCTCCCCTG CCGCGCTGACGCCCCCTCCCCTGCCGCGCTGATGCCCCCTCCCCTGCCGT GCTGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 NA19083.hp2 HG02083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0004g0002 a0001c0001t0001g0002 a0001c0001t0004g0002	2	412	0.0049	-206	c.29 others(11): Show c.2930_*3135del	PRXL2B	ENSG00000157870.17	transcript	ENST00000419916.8	protein_coding		889		chr1	TogoVar
PXMP2_chr12_132682587_132709985	132692949	CAGTTAGT others(199): Show CAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTGCCAGTT AGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGAT AGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTA GTGAGCACCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAG CTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0026 a0001c0004t0004g0026	2	348	0.0057	-206	c.236 others(17): Show c.236+2595_237-2708del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB40C_chr16_585066_634268	631835	GCCTCTCC others(199): Show GCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCAT CCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCAC TCCTCCCATCCACTTTTTCCATCCTCTTCTCTCACCCCGTCATTGCCTCT CCTTCCATCCTCTCCTCCCATCCACTTCTCCCACCCCTTCACTGCCTCTC CTCCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	347	0.0029	-206	c.42 others(11): Show c.4214_*4419del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2568		chr16	TogoVar
SCN11A_chr3_38840764_39056944	38877404	GTATATAC others(199): Show GTATATACTATATATATGGTATATATATGGTGTATATACTATATATATGG TATATATATGGTGTATATACTATATATATGGTATATATATGGTGTATATA CTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATAT ATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATATA TATGGTA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0265 a0003c0010t0003g0265	1	312	0.0032	-206	c.339 others(19): Show c.3393+2340_3393+2545del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1288401	TCCCGTGT others(199): Show TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	259	0.0039	-206	c.166 others(17): Show c.1662+373_1662+578del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288742	TGTCTCTG others(199): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGT CCCCCGA	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	283	0.0035	-206	c.166 others(17): Show c.1662+727_1662+932del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243318894	TTAATCTG others(199): Show TTAATCTGTTTTGCATTGCTATAAAGAAAGAGCAGAGATTGGTAATTTAT AAAGAGAAGTAAGTGGTTTATTTTGGCTCATGTTGTGCAGGCTGCATACG AAGCATGGTGCCAACATATGCTTCTGGTAAGGCCTCAGGAAGATTTCACT CTGACAGCAGGCAGAGGGGAGCAAGCCTCACAAGGGAGCAGGACTGAGCG AGGAGGA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	188	0.0053	-206	c.106 others(19): Show c.1068+2002_1068+2207del	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17			chr1	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368480	ATAAAATA others(199): Show ATAAAATATATATATATTATATATATATATATAAAATATATATATATTAT ATATATATATAAAATATATATATATTATATATATATAAAATATGTTATAT ATATATATAAAATATGTTATATATATAATATATATGTTATATATATATAT AATATATATGTTATATATATAAAATATATATATTATATATATATAAAATA TATATGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02273.hp1 others(3): Show HG02257.hp1 HG02258.hp1 HG02273.hp1 HG03579.hp2 HG03942.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0037 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0037 a0001c0001t0042 a0001c0001t0049 a0001c0001t0063	a0001c0001t0001g0126 a0001c0001t0010g0022 a0001c0001t0037g0013 others(3): Show a0001c0001t0001g0126 a0001c0001t0010g0022 a0001c0001t0037g0013 a0001c0001t0042g0120 a0001c0001t0049g0026 a0001c0001t0063g0011	6	278	0.0216	-206	c.427 others(17): Show c.427+5104_427+5309del	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SNTG2_chr2_945849_1372613	1107841	CACGTGCT others(199): Show CACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTG GACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAG TGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAT AGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTA AGAGTGG	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	186	0.0054	-206	c.325 others(17): Show c.325+9434_325+9639del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SULF2_chr20_47652406_47790481	47681948	GTGCTGGG others(199): Show GTGCTGGGATTACAGGCATGAGCCACAGGGCCCGGCTTGCAATGAATTAT TATGTAGTTCTTAGACCAGGCCCTGAAGAGTAGACACTCCATACGTGTGG ACTGTCGTTATTACAGCTCTTAGTCCAATGGGGACGCTAAGAGCCAAAGA CGGGCGTGATCTGATAAGGTCAACAGTCAGTCATCACTTTCTCTGGCCTT GAACTCA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02615.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0322 a0001c0001t0001g0326	2	362	0.0055	-206	c.106 others(18): Show c.1064+840_1064+1045del	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	7/20			chr20	TogoVar
SYNPR_chr3_63273308_63621924	63313848	CATATATA others(199): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp1 HG00642.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0243 a0001c0001t0012g0242 a0001c0001t0004g0243 a0001c0001t0012g0242	2	219	0.0091	-206	c.84+ others(17): Show c.84+35117_84+35322del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D22A_chr22_46757650_47180693	46859686	CATAGAGG others(199): Show CATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTT TTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGAATCCT TTTCCATAAAAGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCC TTTTTTG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	102	0.0098	-206	c.638 others(19): Show c.638-18917_638-18712del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859692	GGTCCGCG others(199): Show GGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATA GAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCAT AGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGGCCAGAATCCTTTTCCA TAAAAGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTT GATAGAG	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	111	0.0090	-206	c.638 others(19): Show c.638-18917_638-18712del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628369	GGGAAGGG others(199): Show GGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGA GGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03098.hp2 HG02735.hp1 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0013 a0003c0008 a0001c0013 a0003c0008	a0001c0013t0004 a0003c0008t0001 a0001c0013t0004 a0003c0008t0001	a0001c0013t0004g0011 a0003c0008t0001g0122 a0001c0013t0004g0011 a0003c0008t0001g0122	2	349	0.0057	-206	c.299 others(16): Show c.299-1149_299-944del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENM2_chr5_166974029_168269157	167974081	GGAAGGAA others(199): Show GGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAGGAAGGAAG GAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGG AAGGAAGGAAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGGAGGGAGGAA GGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGAGGGAGGAAGGAAG GAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG03130.hp1 others(1): Show HG01891.hp2 HG02970.hp2 HG03130.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0016 others(1): Show a0001c0001 a0001c0012 a0001c0016 a0001c0038	a0001c0001t0004 a0001c0012t0023 a0001c0016t0015 others(1): Show a0001c0001t0004 a0001c0012t0023 a0001c0016t0015 a0001c0038t0007	a0001c0001t0004g0006 a0001c0012t0023g0016 a0001c0016t0015g0047 others(1): Show a0001c0001t0004g0006 a0001c0012t0023g0016 a0001c0016t0015g0047 a0001c0038t0007g0003	4	53	0.0755	-206	c.948 others(19): Show c.948-18861_948-18656del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TNK2_chr3_195858364_195913551	195880871	CCCGCCCC others(199): Show CCCGCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTA ACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTA ACACCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTC TAACACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCC TCTAACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp1 HG01884.hp1 others(34): Show HG00323.hp2 HG01175.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02109.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG06807.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0018 a0019 a0020	a0001c0001 a0001c0002 a0001c0013 others(16): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0017 a0001c0034 a0001c0037 a0001c0042 a0001c0058 a0001c0061 a0001c0062 a0002c0008 a0002c0023 a0002c0027 a0002c0060 a0006c0021 a0018c0035 a0019c0045 a0020c0047	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(17): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0013t0001 a0001c0014t0004 a0001c0017t0006 a0001c0034t0006 a0001c0037t0004 a0001c0042t0001 a0001c0058t0004 a0001c0061t0001 a0001c0062t0001 a0002c0008t0001 a0002c0023t0001 a0002c0027t0001 a0002c0060t0001 a0006c0021t0001 a0018c0035t0004 a0019c0045t0001 a0020c0047t0001	a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0007g0228 others(33): Show a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0007g0228 a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0132 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0203 a0001c0013t0001g0121 a0001c0013t0001g0122 a0001c0013t0001g0123 a0001c0014t0004g0007 a0001c0014t0004g0097 a0001c0017t0006g0020 a0001c0034t0006g0024 a0001c0037t0004g0112 a0001c0042t0001g0230 a0001c0058t0004g0233 a0001c0061t0001g0234 a0001c0062t0001g0235 a0002c0008t0001g0018 a0002c0008t0001g0183 a0002c0023t0001g0025 a0002c0023t0001g0205 a0002c0027t0001g0119 a0002c0060t0001g0236 a0006c0021t0001g0115 a0006c0021t0001g0116 a0006c0021t0001g0120 a0018c0035t0004g0229 a0019c0045t0001g0017 a0020c0047t0001g0016	37	362	0.1022	-206	c.887 others(16): Show c.887+974_887+1179del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TUBGCP2_chr10_133273635_133313872	133291347	ATGTCCCT others(199): Show ATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCC CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	267	0.0037	-206	c.121 others(18): Show c.1214+946_1214+1151del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291535	ATGTCCCT others(199): Show ATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCC CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0040 a0001c0004t0002g0040	1	263	0.0038	-206	c.121 others(17): Show c.1214+758_1214+963del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UNC5C_chr4_95157504_95553973	95461303	TGAAGCAC others(199): Show TGAAGCACAAGGCAAGAGCAAGTTGAATAGATGACAAAGGAGAGAAATCA AAAAAAGAAGATGTTATGCTCTGTTACTAAAATACTGTATTGTGAACATA TTGTAATCAAATATAATTAGAAAAATATTCCCAAAGTAAAATTATAAATT ATTGTTGGCTTGTCTAAAATACAATTACAATCCAAACAAGAGAATCAAGT ATTTACA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(54): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00673.hp2 HG00735.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp2 HG01943.hp1 HG02055.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 NA18942.hp1 NA18944.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18975.hp1 NA18988.hp1 NA18990.hp2 NA19000.hp1 NA19006.hp1 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19086.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0003 a0001c0004 a0001c0005 others(18): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0018 a0001c0020 a0001c0021 a0001c0037 a0002c0001 a0002c0002 a0002c0007 a0002c0008 a0002c0016 a0002c0024 a0002c0026 a0003c0013 a0009c0040	a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 others(36): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 a0001c0004t0001 a0001c0004t0010 a0001c0004t0016 a0001c0004t0018 a0001c0005t0001 a0001c0005t0004 a0001c0005t0019 a0001c0006t0001 a0001c0006t0003 a0001c0006t0007 a0001c0009t0001 a0001c0009t0004 a0001c0009t0035 a0001c0010t0006 a0001c0011t0003 a0001c0011t0004 a0001c0011t0012 a0001c0012t0003 a0001c0012t0006 a0001c0018t0001 a0001c0020t0001 a0001c0021t0006 a0001c0037t0037 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0036 a0002c0007t0002 a0002c0008t0002 a0002c0016t0001 a0002c0024t0001 a0002c0026t0002 a0003c0013t0009 a0009c0040t0002	a0001c0003t0001g0031 a0001c0003t0001g0064 a0001c0003t0003g0191 others(54): Show a0001c0003t0001g0031 a0001c0003t0001g0064 a0001c0003t0003g0191 a0001c0003t0013g0057 a0001c0004t0001g0141 a0001c0004t0001g0196 a0001c0004t0010g0155 a0001c0004t0016g0058 a0001c0004t0018g0159 a0001c0005t0001g0077 a0001c0005t0001g0099 a0001c0005t0001g0136 a0001c0005t0001g0165 a0001c0005t0004g0054 a0001c0005t0019g0010 a0001c0006t0001g0175 a0001c0006t0003g0200 a0001c0006t0007g0115 a0001c0006t0007g0132 a0001c0009t0001g0195 a0001c0009t0004g0042 a0001c0009t0035g0181 a0001c0010t0006g0074 a0001c0011t0003g0182 a0001c0011t0004g0085 a0001c0011t0012g0172 a0001c0012t0003g0044 a0001c0012t0003g0045 a0001c0012t0006g0156 a0001c0018t0001g0144 a0001c0020t0001g0185 a0001c0021t0006g0083 a0001c0021t0006g0198 a0001c0037t0037g0199 a0002c0001t0001g0011 a0002c0001t0001g0063 a0002c0001t0002g0114 a0002c0001t0002g0116 a0002c0001t0005g0122 a0002c0001t0005g0145 a0002c0002t0001g0069 a0002c0002t0001g0126 a0002c0002t0001g0147 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0002g0008 a0002c0002t0002g0162 a0002c0002t0036g0090 a0002c0007t0002g0096 a0002c0008t0002g0041 a0002c0016t0001g0105 a0002c0024t0001g0067 a0002c0026t0002g0050 a0003c0013t0009g0098 a0003c0013t0009g0133 a0009c0040t0002g0018	57	204	0.2794	-206	c.124 others(19): Show c.124+87225_124+87430del	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
USP40_chr2_233470526_233571782	233567612	CTATATAA others(199): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGA TTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0149 a0003c0003t0002g0149	1	303	0.0033	-206	c.-11 others(10): Show c.-1154_-949del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		831		chr2	TogoVar
USP40_chr2_233470526_233571782	233567638	CTATATAA others(199): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01169.hp1 HG01175.hp2 others(9): Show HG00323.hp1 HG01169.hp1 HG01175.hp2 HG02056.hp1 HG02602.hp2 NA18941.hp2 NA18950.hp2 NA18959.hp1 NA18995.hp1 NA19012.hp2 NA19066.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0095 others(9): Show a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0108 a0003c0003t0002g0001 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0144 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0156	12	276	0.0435	-206	c.-11 others(10): Show c.-1180_-975del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		857		chr2	TogoVar
USP40_chr2_233470526_233571782	233567664	CTATATAA others(199): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01496.hp2 HG01515.hp2 others(12): Show HG01069.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02040.hp1 HG02071.hp1 HG02165.hp2 HG03239.hp1 NA18942.hp2 NA18948.hp2 NA18957.hp1 NA18963.hp1 NA18981.hp1 NA18983.hp1 NA18992.hp2	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0003c0003 a0015c0035 a0001c0001 a0003c0003 a0015c0035	a0001c0001t0001 a0001c0001t0005 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0003c0003t0002 a0015c0035t0001	a0001c0001t0001g0003 a0001c0001t0001g0080 a0001c0001t0001g0081 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0005g0301 a0003c0003t0002g0001 a0015c0035t0001g0104	15	292	0.0514	-206	c.-12 others(11): Show c.-1206_-1001del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		883		chr2	TogoVar

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