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
PLEKHG4B_chr5_87168_194966	176155	ACACCCCC others(111): Show ACACCCCCGTGGGCTTCACCCCTGTGCAGCCCCCAACAGCAGTTACTTGG CCAGAGGCCTCACCTCCGAGATGCCACCATCCTGAAGAGCCTTCCTGGCC TTTTTCCTTCCTTTGTAAC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0032 a0032	a0032c0062 a0032c0062	a0032c0062t0020 a0032c0062t0020	a0032c0062t0020g0188 a0032c0062t0020g0188	1	210	0.0048	-118	c.440 others(19): Show c.4402+2059_4402+2176del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLXDC2_chr10_19811432_20294856	20126401	ATGTATAT others(111): Show ATGTATATACAACACACGTTATATATGTATATACAACACACGTTATATAT GTATATACAACACACGTTATATATGTATATATAACACACACGTTATATAT GTATATATAACACACACGT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0077 a0004c0004t0077	a0004c0004t0077g0079 a0004c0004t0077g0079	1	180	0.0056	-118	c.542 others(19): Show c.542-16892_542-16775del	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPA1_chr10_70197835_70238429	70220705	AATATATA others(111): Show AATATATATAATTTATATATATAATATATATAATTTATATATATATAATA TATATAATTTATATATATATAATATATATAATTTATATATATATAATATA TATAATTTTTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	408	0.0025	-118	c.124 others(17): Show c.124-2006_124-1889del	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA1_chr10_70197835_70238429	70220962	ATAATTTT others(111): Show ATAATTTTTATATATATACTATATATATAATTTATATATATAACATATAT ATAATTTATATATATAATATATATATAAATTATATATATATATAATTTAT ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	408	0.0025	-118	c.124 others(17): Show c.124-2263_124-2146del	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPP2R3B_chrX_328933_391907	340002	GGGGGGGG others(111): Show GGGGGGGGTGAGAGGGGAGGAGATGGGGGGGGTGAGAGGGGAGGAGATGG GGGGGGTGAGAGGGGAGGAGATGGGGGGGTGAGAGGGGAGGAGATGGGGG GGGTGAGAGGGGAGGAGAT	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	25	0.0400	-118	c.135 others(17): Show c.1351+645_1351+762del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	376662	CCAGTGGG others(111): Show CCAGTGGGGCCACCATGGGGCTGTCTATACACTACTGTGTACAGGGACGG GCCGTCCACACCCAGTGGGGCCACCATGGGGCTGTCTATACACTACTGTG TACAGGGACGGGCCGTCCA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	25	0.0400	-118	c.324 others(17): Show c.324+9588_324+9705del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101782472	CTTCCGCT others(111): Show CTTCCGCTCCCTCTCCCCCTTCCCCTCCCTCTCTTTCCTCTTTCTCTCTC CCCCTCCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCTTCCCTCTCT CTCCCCCCCTTTCTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	138	0.0073	-118	c.94- others(15): Show c.94-3541_94-3424del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRCP_chr11_82817936_82905430	82889004	TAAGACAT others(111): Show TAAGACATGTGCCATAAAAGTACAAAAAAAGATTTGACCAATCACACACT GTCCAGGAGATTTAAAAATGGGCTGGGTGCAGTGGCTCCCACCTGTAATC CCAACACTTTGTGAGGTAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01070.hp1 others(40): Show HG00280.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01256.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0013 others(1): Show a0001c0001 a0001c0004 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0014 a0001c0004t0015 a0001c0013t0003 a0002c0003t0006	a0001c0001t0001g0118 a0001c0001t0006g0268 a0001c0001t0006g0284 others(39): Show a0001c0001t0001g0118 a0001c0001t0006g0268 a0001c0001t0006g0284 a0001c0001t0006g0285 a0001c0001t0009g0287 a0001c0001t0009g0288 a0001c0001t0009g0289 a0001c0001t0009g0290 a0001c0001t0009g0291 a0001c0001t0009g0292 a0001c0001t0010g0294 a0001c0004t0001g0280 a0001c0004t0002g0098 a0001c0004t0004g0015 a0001c0004t0004g0266 a0001c0004t0004g0269 a0001c0004t0004g0270 a0001c0004t0004g0271 a0001c0004t0004g0272 a0001c0004t0004g0273 a0001c0004t0004g0274 a0001c0004t0004g0275 a0001c0004t0004g0277 a0001c0004t0004g0278 a0001c0004t0004g0281 a0001c0004t0004g0286 a0001c0004t0004g0293 a0001c0004t0004g0295 a0001c0004t0005g0099 a0001c0004t0005g0100 a0001c0004t0005g0101 a0001c0004t0005g0102 a0001c0004t0005g0103 a0001c0004t0005g0267 a0001c0004t0005g0283 a0001c0004t0005g0296 a0001c0004t0014g0279 a0001c0004t0014g0282 a0001c0004t0014g0297 a0001c0004t0015g0276 a0001c0013t0003g0298 a0002c0003t0006g0119	43	320	0.1344	-118	c.168 others(19): Show c.168+11113_168+11230del	PRCP	ENSG00000137509.12	transcript	ENST00000313010.8	protein_coding	1/8			chr11	TogoVar
PRDM15_chr21_41793225_41884344	41806149	ACCACCAT others(111): Show ACCACCATCACCATCACCACCACCATCACCACCACCACCATCACCACCAC CACCATCACCATCACCATCACCATCACCACCATCACTACCACCATCACCA CCACCACCATCACCACCAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00673.hp1 others(20): Show HG00408.hp1 HG00438.hp2 HG00673.hp1 HG01258.hp1 HG01496.hp1 HG01952.hp1 HG02040.hp2 HG02523.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp2 NA18939.hp1 NA18955.hp2 NA18966.hp1 NA18979.hp2 NA18984.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19064.hp1	a0001 a0010 a0001 a0010	a0001c0005 a0001c0014 a0001c0020 others(2): Show a0001c0005 a0001c0014 a0001c0020 a0001c0021 a0010c0064	a0001c0005t0003 a0001c0014t0003 a0001c0020t0021 others(2): Show a0001c0005t0003 a0001c0014t0003 a0001c0020t0021 a0001c0021t0003 a0010c0064t0003	a0001c0005t0003g0004 a0001c0005t0003g0031 a0001c0005t0003g0104 others(20): Show a0001c0005t0003g0004 a0001c0005t0003g0031 a0001c0005t0003g0104 a0001c0005t0003g0107 a0001c0005t0003g0187 a0001c0005t0003g0188 a0001c0005t0003g0195 a0001c0005t0003g0197 a0001c0005t0003g0209 a0001c0005t0003g0235 a0001c0005t0003g0236 a0001c0005t0003g0250 a0001c0005t0003g0264 a0001c0005t0003g0266 a0001c0005t0003g0352 a0001c0005t0003g0355 a0001c0005t0003g0359 a0001c0005t0003g0373 a0001c0014t0003g0335 a0001c0020t0021g0255 a0001c0021t0003g0213 a0001c0021t0003g0239 a0010c0064t0003g0374	23	406	0.0567	-118	c.265 others(19): Show c.2653-1653_2653-1536del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806201	CCATCACC others(111): Show CCATCACCATCACCATCACCATCACCACCATCACTACCACCATCACCACC ACCACCATCACCACCACCCATCACCACCACCACCATCACCATCACCACCA CCATCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp2 NA19062.hp1 NA19062.hp2	a0001 a0016 a0001 a0016	a0001c0020 a0016c0058 a0001c0020 a0016c0058	a0001c0020t0004 a0016c0058t0003 a0001c0020t0004 a0016c0058t0003	a0001c0020t0004g0331 a0016c0058t0003g0196 a0001c0020t0004g0331 a0016c0058t0003g0196	2	406	0.0049	-118	c.265 others(19): Show c.2653-1705_2653-1588del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRKX_chrX_3599340_3718649	3639259	GGATGGAT others(111): Show GGATGGATGGATGGATGGATGGATGAAGGGGTGGGGGGGTCGGGGGGTGG ATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGGGTGGATGG ATGAAGGGGTGGGGTGGTA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0116 a0002c0003t0116	a0002c0003t0116g0195 a0002c0003t0116g0195	1	227	0.0044	-118	c.719 others(17): Show c.719+2475_719+2592del	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRPF6_chr20_63976132_64038100	64011752	ATTTCTTT others(111): Show ATTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTC TCATGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGA CAGGAAGTCTCACGGCTTC	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03927.hp2 HG03942.hp2 others(1): Show HG02738.hp2 HG03927.hp2 HG03942.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0006g0052 others(1): Show a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0006g0052 a0001c0001t0006g0219	4	294	0.0136	-118	c.152 others(17): Show c.1524+302_1524+419del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTGR1_chr9_111557567_111604647	111560992	GAGAGAGA others(111): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGTGGCAGTGAGTGGAGATCGCAC CACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTAAAATATATA TATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	408	0.0025	-118	c.20 others(11): Show c.2011_*2128del	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1574		chr9	TogoVar
PTTG1IP_chr21_44844598_44878690	44866437	CACACACA others(111): Show CACACACACAGAGTGCCTACTCCCCCAATCCCATAACACACACACACACA CACACGCAGACTGCCTACTCCCCCAATCCCGTAACACACACGCAGACTGC CTACTCCCCCAATCCCGTA	C C	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0197 a0001c0001t0006g0197	1	444	0.0023	-118	c.116 others(16): Show c.116-1108_116-991del	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	1/5			chr21	TogoVar
PYCR1_chr17_81927391_81942300	81929841	GGGCATCC others(111): Show GGGCATCCTCCCGCCCCAGGCTGCACCTTCTGTGGGACTGGCCCCCGCAG GCACCTCCCGGGCACCCTCCCGCCCCAGGCTGCAGCTTCTGTGGGACTGA GCCCCGCAGGCACCTCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA18522.hp1 HG01891.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	2	376	0.0053	-118	c.32 others(11): Show c.3255_*3372del	PYCR1	ENSG00000183010.17	transcript	ENST00000329875.13	protein_coding		2549		chr17	TogoVar
PYCR1_chr17_81927391_81942300	81929882	CCCCCGCA others(111): Show CCCCCGCAGGCACCTCCCGGGCACCCTCCCGCCCCAGGCTGCAGCTTCTG TGGGACTGAGCCCCGCAGGCACCTCCCCGGCATCCTCCCGCCCCAGGCTG CACCTTCTGTGGGACTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02630.hp2 others(3): Show HG01884.hp2 HG02280.hp1 HG02630.hp2 HG02809.hp2 HG03098.hp1 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0001 a0001c0002t0006 a0004c0008t0001 a0001c0002t0001 a0001c0002t0006 a0004c0008t0001	a0001c0002t0001g0009 a0001c0002t0001g0029 a0001c0002t0006g0023 others(1): Show a0001c0002t0001g0009 a0001c0002t0001g0029 a0001c0002t0006g0023 a0004c0008t0001g0021	6	376	0.0160	-118	c.32 others(11): Show c.3214_*3331del	PYCR1	ENSG00000183010.17	transcript	ENST00000329875.13	protein_coding		2508		chr17	TogoVar
PYCR1_chr17_81927391_81942300	81929905	CCCTCCCG others(111): Show CCCTCCCGCCCCAGGCTGCAGCTTCTGTGGGACTGAGCCCCGCAGGCACC TCCCCGGCATCCTCCCGCCCCAGGCTGCACCTTCTGTGGGACTGAGCCCC GCAGGCACTTCCCCGGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	376	0.0027	-118	c.31 others(11): Show c.3191_*3308del	PYCR1	ENSG00000183010.17	transcript	ENST00000329875.13	protein_coding		2485		chr17	TogoVar
RARG_chr12_53205569_53237209	53207820	TGCCCAGC others(111): Show TGCCCAGCAACGTTTTATATTCTTAATAGAGACGGGGTTTCACCATGTTG GCCAGGCTGGTCTCAAACTCTTGACCTCAATTGATCTGCCCACCTCGGCC TCCCAAAGTGCTGGGATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19080.hp2 NA19057.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0258 a0001c0001t0001g0001 a0001c0001t0001g0258	2	356	0.0056	-118	c.37 others(11): Show c.3738_*3855del	RARG	ENSG00000172819.17	transcript	ENST00000425354.7	protein_coding		2748		chr12	TogoVar
RELN_chr7_103466789_103994658	103909654	AATATATA others(111): Show AATATATATAAATATATATTAAATATATTTAATAAATATATATATTTAAT ATATATAAATATATATTAAATATATTTTTTAATATATATAAATATATATA TTAAATATATATATTTAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG01243.hp2 HG02922.hp2	a0004 a0005 a0004 a0005	a0004c0065 a0005c0084 a0004c0065 a0005c0084	a0004c0065t0001 a0005c0084t0001 a0004c0065t0001 a0005c0084t0001	a0004c0065t0001g0147 a0005c0084t0001g0153 a0004c0065t0001g0147 a0005c0084t0001g0153	2	184	0.0109	-118	c.337 others(17): Show c.337+7303_337+7420del	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
RNF212_chr4_1066478_1118564	1095155	GCCCCCCA others(111): Show GCCCCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACAGA ACCAAGCACACTCCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCT CATCACGGAACCAAGCACA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00609.hp1 others(89): Show HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG03130.hp1 HG03130.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19012.hp1 NA19063.hp1 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA20300.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0008c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 others(79): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0301 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0009g0365 a0001c0001t0015g0204 a0008c0010t0001g0092	92	406	0.2266	-118	c.246 others(17): Show c.246+1492_246+1609del	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
RNF212_chr4_1066478_1118564	1096213	GCACACCC others(111): Show GCACACCCCCCACAGCTCCACGGTCTCGGGATAGCGCACCTGGCTCATCA CGGAACCAAGCACACCCCCCACAGCTCCACGGTCTCGGGATAGCGCACCT GGCTCATCACGGAACCAAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	406	0.0025	-118	c.246 others(15): Show c.246+434_246+551del	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
RNF223_chr1_1065967_1079306	1076380	CTGAGTCT others(111): Show CTGAGTCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCG TGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGGCTATG GTGACTCCGTGCAGGGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0008 a0012c0021t0008	a0012c0021t0008g0031 a0012c0021t0008g0031	1	324	0.0031	-118	c.-24 others(11): Show c.-2492_-2375del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2075		chr1	TogoVar
RNFT2_chr12_116733315_116858631	116841776	TATAAATA others(111): Show TATAAATATATATATATAAATATATATATAAATATATATATAAAAATATA TATATATAAATATATATATAAATATATATAAAAATATATATATAAATATA TATATAAATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG02280.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0021 a0001c0001t0005 a0001c0003t0021	a0001c0001t0005g0105 a0001c0003t0021g0038 a0001c0001t0005g0105 a0001c0003t0021g0038	2	268	0.0075	-118	c.120 others(19): Show c.1200+5498_1200+5615del	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNFT2_chr12_116733315_116858631	116841844	TAAATATA others(111): Show TAAATATATATAAAAATATATATATAAATATATATATAAATATATATAAA AATATATATATATAAATATATATATAAAAATATATATATATAAATATATA TATAAATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG03516.hp2 HG02258.hp1 HG02647.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0004 a0001c0002t0002 a0001c0016t0002 a0001c0001t0004 a0001c0002t0002 a0001c0016t0002	a0001c0001t0004g0096 a0001c0002t0002g0129 a0001c0016t0002g0020 a0001c0001t0004g0096 a0001c0002t0002g0129 a0001c0016t0002g0020	3	268	0.0112	-118	c.120 others(19): Show c.1200+5564_1200+5681del	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPTOR_chr17_80539838_80971368	80841413	ACTCACCA others(111): Show ACTCACCACACGGCAGCTCACACTCACCACACGGCAGCTCACTCTCACCA CACGGCAGCTCACACCACACGGCAGCTCACTCTCACCACACGGCAGCTCA CACCACACGGCAGCTCACT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0018 a0001c0021t0079 a0001c0021t0018 a0001c0021t0079	a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0021t0018g0014 a0001c0021t0079g0005	2	196	0.0102	-118	c.121 others(19): Show c.1212+3437_1212+3554del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
S1PR4_chr19_3173769_3185332	3177922	CTTCTGCA others(111): Show CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCT CTGGGCCTCAGTTTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG01257.hp1 others(7): Show HG01074.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG02630.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03831.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0023 a0001c0001 a0001c0002 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0023t0002 a0001c0001t0001 a0001c0002t0001 a0001c0023t0002	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0023t0002g0000 a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0023t0002g0000	10	418	0.0239	-118	c.-87 others(9): Show c.-870_-753del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		846		chr19	TogoVar
SARDH_chr9_133658560_133743352	133668376	TCCCTCAG others(111): Show TCCCTCAGCCTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTCTCCCT TCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCTCCCTCTCCCCT CGCCCTCCCTCTCCCCTCA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	262	0.0038	-118	c.249 others(19): Show c.2496-1624_2496-1507del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP5_chr15_74990563_75026495	74990996	CTTTCTTT others(111): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02559.hp2 NA18961.hp1 others(4): Show HG02056.hp1 HG02559.hp2 NA18961.hp1 NA18967.hp1 NA18979.hp2 NA19065.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0196 a0001c0001t0003g0023 a0001c0001t0003g0226 others(4): Show a0001c0001t0001g0196 a0001c0001t0003g0023 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0236 a0001c0001t0003g0243	7	370	0.0189	-118	c.-47 others(11): Show c.-4725_-4608del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4566		chr15	TogoVar
SCFD2_chr4_52867982_53371061	53353755	AAACCTTG others(111): Show AAACCTTGAGCTAGACACAGGGTGCTGATTGGTGCATTTACAATCCTTCA GCTAGACACAACTTTCTTCAAGTCCCCACTAGATTAGCTAGACACAGAGC ACTGATTGGTGCATTTACC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01192.hp1 others(34): Show HG00558.hp2 HG00642.hp2 HG01192.hp1 HG01261.hp2 HG01884.hp1 HG02109.hp1 HG02129.hp1 HG02258.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03669.hp1 HG03834.hp2 NA18522.hp1 NA18906.hp2 NA18970.hp2 NA18971.hp1 NA18981.hp1 NA19007.hp2 NA19043.hp2 NA19060.hp2 NA19066.hp1 NA19091.hp2 NA19240.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0004c0010 a0005c0011 a0005c0012 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0003t0003 a0001c0003t0013 a0001c0004t0002 a0001c0004t0003 a0002c0002t0002 a0004c0010t0001 a0005c0011t0003 a0005c0012t0001 a0006c0014t0003	a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 others(34): Show a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0004g0049 a0001c0001t0010g0061 a0001c0003t0003g0062 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0068 a0001c0003t0003g0069 a0001c0003t0003g0074 a0001c0003t0013g0073 a0001c0004t0002g0053 a0001c0004t0003g0051 a0002c0002t0002g0050 a0002c0002t0002g0058 a0004c0010t0001g0001 a0004c0010t0001g0002 a0005c0011t0003g0003 a0005c0012t0001g0004 a0006c0014t0003g0060	37	162	0.2284	-118	c.839 others(16): Show c.839-1107_839-990del	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	1/8			chr4	TogoVar
SFSWAP_chr12_131706090_131804738	131801536	CATGGCCC others(111): Show CATGGCCCGTGTTTGCCGTGGCCCGTGTTTGCTGTGGCTGTTCGTGTTTG CCGTGGCCCGTGTTTGCCGTGGCTCGTGTTTGCTGTGGCCTGTGTTTGCC GTGGCTGTTCATGTTTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02723.hp1 others(4): Show HG01891.hp2 HG02451.hp1 HG02723.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0015 a0001c0001 a0001c0004 a0001c0015	a0001c0001t0002 a0001c0004t0002 a0001c0015t0002 a0001c0001t0002 a0001c0004t0002 a0001c0015t0002	a0001c0001t0002g0019 a0001c0004t0002g0009 a0001c0004t0002g0010 others(4): Show a0001c0001t0002g0019 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0002g0011 a0001c0004t0002g0306 a0001c0004t0002g0307 a0001c0015t0002g0008	7	318	0.0220	-118	c.20 others(11): Show c.2049_*2166del	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding		1799		chr12	TogoVar
SHOX_chrX_625791_656584	636363	TAAATATA others(111): Show TAAATATATACAAACATATTGTATATATATAAATATATATAAAAACATAT ATATACATATAAAAATATATATAAACATATATACATATAAAGAAATATAT ATAAACATATATACATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0192 a0001c0001t0192	a0001c0001t0192g0073 a0001c0001t0192g0073	1	220	0.0046	-118	c.486 others(17): Show c.486+1545_486+1662del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9792028	ATAGAATA others(111): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02132.hp1 HG03195.hp2 others(1): Show HG00741.hp2 HG02132.hp1 HG03195.hp2 HG03942.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0011c0053 a0001c0001 a0001c0003 a0011c0053	a0001c0001t0001 a0001c0003t0001 a0011c0053t0005 a0001c0001t0001 a0001c0003t0001 a0011c0053t0005	a0001c0001t0001g0177 a0001c0001t0001g0214 a0001c0003t0001g0193 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0214 a0001c0003t0001g0193 a0011c0053t0005g0134	4	256	0.0156	-118	c.165 others(17): Show c.165+5319_165+5436del	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9			chrX	TogoVar
SKI_chr1_2223319_2315213	2309704	GCCCCCCC others(111): Show GCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCCCCCCCACCC CCTCCTCCCTGTGGGTCCGATCCCCGGCCCCCCCCACCCCCTCCTCCCTG TGGGTCCGAACCCCGGCCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0257 a0001c0001t0062g0257	1	330	0.0030	-118	c.29 others(11): Show c.2990_*3107del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	7/7	2990	INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC9A3_chr5_465456_529449	484088	ACCCCGCC others(111): Show ACCCCGCCGGACCCAGGAGGGTGTGGAGAAGCTCGGGTTGGGGTCCCCCT GGCTGGCTCGCCCCGCCGGACCCAGGAGGGTGTGGAGAAGCTCGGGTTGG GGTCCCCCTGGCTGGCTCG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0117 a0001c0001t0011g0117	1	218	0.0046	-118	c.932 others(15): Show c.932+314_932+431del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	5/16			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47856728	TAATGAGG others(111): Show TAATGAGGTTCATTACAGCATTGTTTTTTAATTTCTGGTAAAAGTTGAAC CTTTTAAAATTTTAATTTTTTGCTAGATGCAATTACATATAATGCTTAAG TTTTCCTATTTTGCCTAAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0176 a0001c0001t0176	a0001c0001t0176g0022 a0001c0001t0176g0022	1	310	0.0032	-118	c.731 others(17): Show c.731-5519_731-5402del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	6/10			chr18	TogoVar
SMOC2_chr6_168436184_168672992	168615468	CACCTACA others(111): Show CACCTACAGCCAGCACACGGCCTCTTCACACCTACAGCCAGCACAGGGTC TCTTCATCTTCATACTTACAGCCGGCACAGGGCCTCTTTACATCTACAGC CAGCACAGGGCCTCTTCAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	180	0.0056	-118	c.907 others(17): Show c.907+7246_907+7363del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX18_chr5_54512759_54551586	54514209	ATGTATAA others(111): Show ATGTATAAATTTATATATTATATAAATATATATGATATATATAAATTTAT ATATTATATAGAAATTTTAATATAGTATATATAAATTTTTATATATTATA TATAAAATATATATAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	390	0.0026	-118	c.-37 others(11): Show c.-3743_-3626del	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3549		chr5	TogoVar
SORCS2_chr4_7187538_7747827	7482028	ACTGCGGA others(111): Show ACTGCGGACACCCCTGACGCCGTTCAGACCTGTATCCCCACCGTGGACAC CCCTGGCTACTGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCT GTTCAGACCTGTATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0115 a0001c0002t0067g0115	1	168	0.0060	-118	c.549 others(19): Show c.549-49482_549-49365del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7482538	ACTGCGGA others(111): Show ACTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCACTGCGGACAC CCCTGGCTGCTGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCT GTTTAGACCTGTATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG01952.hp1 others(13): Show HG01243.hp2 HG01891.hp1 HG01952.hp1 HG01981.hp2 HG02056.hp2 HG02148.hp2 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG03139.hp1 HG03492.hp1 HG03710.hp2 HG04228.hp1 NA18962.hp1 NA18966.hp2 NA19066.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0015 a0001c0041 a0002c0004 a0004c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(13): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0032 a0001c0002t0004 a0001c0002t0010 a0001c0002t0047 a0001c0002t0054 a0001c0002t0065 a0001c0003t0002 a0001c0003t0022 a0001c0014t0034 a0001c0015t0011 a0001c0041t0013 a0002c0004t0012 a0004c0007t0015	a0001c0001t0003g0053 a0001c0001t0005g0067 a0001c0001t0010g0129 others(13): Show a0001c0001t0003g0053 a0001c0001t0005g0067 a0001c0001t0010g0129 a0001c0001t0032g0141 a0001c0002t0004g0018 a0001c0002t0010g0045 a0001c0002t0047g0020 a0001c0002t0054g0050 a0001c0002t0065g0004 a0001c0003t0002g0073 a0001c0003t0022g0043 a0001c0014t0034g0040 a0001c0015t0011g0002 a0001c0041t0013g0031 a0002c0004t0012g0035 a0004c0007t0015g0166	16	168	0.0952	-118	c.549 others(19): Show c.549-48976_549-48859del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPADH_chr10_122667850_122684494	122681289	CGGAGATA others(111): Show CGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCA CGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTTCTCATGTGTGAACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	414	0.0024	-118	c.22 others(11): Show c.2242_*2359del	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1796		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681584	GGGAGATA others(111): Show GGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCG TGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTTCTCGTGTGTGAACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	-118	c.25 others(11): Show c.2537_*2654del	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		2091		chr10	TogoVar
SPATC1L_chr21_46156160_46189459	46170482	TCCTGCTC others(111): Show TCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGT GAACATCCTCTGTGGATGTGGAGGAGCCTCCTGCTCTGTGAGCATCCTCT GTGGTCCAGGAGGAGCCTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG01884.hp2 others(20): Show HG01167.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0030 a0001c0001 a0002c0002 a0013c0030	a0001c0001t0022 a0001c0001t0043 a0002c0002t0003 others(3): Show a0001c0001t0022 a0001c0001t0043 a0002c0002t0003 a0002c0002t0026 a0002c0002t0027 a0013c0030t0009	a0001c0001t0022g0205 a0001c0001t0022g0206 a0001c0001t0043g0207 others(16): Show a0001c0001t0022g0205 a0001c0001t0022g0206 a0001c0001t0043g0207 a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0026g0041 a0002c0002t0027g0043 a0013c0030t0009g0037	23	251	0.0916	-118	c.194 others(17): Show c.194-1942_194-1825del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SRGAP1_chr12_63839700_64167217	63948819	GTTTTCCA others(111): Show GTTTTCCATATATATATTCCATATATATATTTTCCATATATATATATTCC ATATATATATTTTCCATATATATATATTCCATATATATATTTTCCATATA TATATATTCCATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0040 a0001c0002t0058g0040	1	170	0.0059	-118	c.68- others(17): Show c.68-35072_68-34955del	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
STARD13_chr13_33098137_33290755	33177810	AAGGAAGG others(111): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18973.hp2 NA18983.hp1 others(7): Show HG03942.hp2 NA18973.hp2 NA18983.hp1 NA18985.hp2 NA18998.hp2 NA19009.hp2 NA19054.hp1 NA19066.hp1 NA19070.hp1 NA19081.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0011c0023	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0014t0001 a0011c0023t0001	a0001c0001t0001g0138 a0001c0002t0001g0034 a0001c0002t0001g0070 others(7): Show a0001c0001t0001g0138 a0001c0002t0001g0034 a0001c0002t0001g0070 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0002g0136 a0001c0014t0001g0036 a0011c0023t0001g0139	10	302	0.0331	-118	c.170 others(19): Show c.170-10306_170-10189del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STARD13_chr13_33098137_33290755	33177814	AAGGAAGG others(111): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGA AGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19064.hp1 NA19062.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0218 a0001c0002t0001g0040 a0001c0001t0002g0218 a0001c0002t0001g0040	2	302	0.0066	-118	c.170 others(19): Show c.170-10310_170-10193del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STON1_chr2_48525154_48603513	48564481	TTCTTCTT others(111): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCT CCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02083.hp1 NA18991.hp2 others(2): Show HG00140.hp2 HG02083.hp1 NA18991.hp2 NA19000.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0005t0003 a0002c0005t0004	a0002c0002t0001g0068 a0002c0002t0002g0034 a0002c0002t0009g0131 others(2): Show a0002c0002t0001g0068 a0002c0002t0002g0034 a0002c0002t0009g0131 a0002c0005t0003g0129 a0002c0005t0004g0130	5	376	0.0133	-118	c.-47 others(19): Show c.-47-16105_-47-15988del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3			chr2	TogoVar
STRA8_chr7_135228838_135263663	135262486	AAAAAAAA others(111): Show AAAAAAAAAAAAAAAAGAAGAAGAAGAAGACAGAGGTGGAAAGAGTTTTA GCAGAGAGAGCCTTGTGCTTGGGAAAGGGTTCCTTCCTGCCAGGCGGCAC TGAGGATCCCGTGAAGTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp2 HG03209.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0006 a0001c0002t0001 a0002c0003t0006	a0001c0002t0001g0132 a0002c0003t0006g0130 a0001c0002t0001g0132 a0002c0003t0006g0130	2	416	0.0048	-118	c.39 others(11): Show c.3995_*4112del	STRA8	ENSG00000146857.5	transcript	ENST00000662584.2	protein_coding		3824		chr7	TogoVar
SV2C_chr5_76078383_76338956	76139838	TTAGAAGC others(111): Show TTAGAAGCTCTTGAAAGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTCACTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(37): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00733.hp2 HG00738.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18906.hp1 NA18998.hp1 NA19030.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0003c0004 a0003c0005 a0005c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(32): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0051 a0001c0001t0065 a0001c0001t0068 a0001c0001t0133 a0001c0002t0006 a0001c0002t0009 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0089 a0001c0002t0102 a0001c0002t0104 a0001c0002t0105 a0001c0002t0144 a0001c0002t0145 a0001c0002t0146 a0001c0002t0150 a0001c0002t0151 a0001c0002t0152 a0001c0002t0153 a0001c0002t0154 a0002c0003t0080 a0002c0003t0086 a0002c0003t0087 a0002c0006t0147 a0003c0004t0066 a0003c0004t0069 a0003c0005t0116 a0003c0005t0156 a0005c0013t0035	a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0004g0080 others(37): Show a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0004g0080 a0001c0001t0013g0085 a0001c0001t0017g0034 a0001c0001t0018g0044 a0001c0001t0051g0035 a0001c0001t0065g0233 a0001c0001t0068g0092 a0001c0001t0133g0157 a0001c0002t0006g0156 a0001c0002t0006g0177 a0001c0002t0006g0192 a0001c0002t0006g0196 a0001c0002t0009g0186 a0001c0002t0035g0178 a0001c0002t0036g0176 a0001c0002t0037g0154 a0001c0002t0037g0194 a0001c0002t0089g0081 a0001c0002t0102g0234 a0001c0002t0104g0020 a0001c0002t0105g0117 a0001c0002t0144g0155 a0001c0002t0145g0189 a0001c0002t0146g0175 a0001c0002t0150g0191 a0001c0002t0151g0151 a0001c0002t0152g0199 a0001c0002t0153g0200 a0001c0002t0154g0197 a0002c0003t0080g0084 a0002c0003t0086g0088 a0002c0003t0087g0021 a0002c0006t0147g0195 a0003c0004t0066g0086 a0003c0004t0069g0022 a0003c0005t0116g0126 a0003c0005t0156g0193 a0005c0013t0035g0153	40	234	0.1709	-118	c.580 others(17): Show c.580+7526_580+7643del	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TAF13_chr1_109059140_109081003	109071957	AATATATA others(111): Show AATATATATATATATATATACACACATATATATATATATATATATATATA TATATATACACACACATATATATATATATATATATATACACACACATATA TATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20752.hp1 HG02602.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0078 a0001c0001t0001g0091	2	414	0.0048	-118	c.106 others(17): Show c.106+2912_106+3029del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TAF13_chr1_109059140_109081003	109071965	TATATATA others(111): Show TATATATATATACACACATATATATATATATATATATATATATATATATA CACACACATATATATATATATATATATATACACACACATATATATATATA TATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	414	0.0024	-118	c.106 others(17): Show c.106+2904_106+3021del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar

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