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
ZRANB3_chr2_135191969_135536218	135488792	TATAATAA others(110): Show TATAATAAAACAAACTATGCTATATAATCAAATATAGCATACCATATTTG ATTATACTATATAGCATATATGTTTTATTATACTATATAGCATACTATAT CTGATTATACTATATAGC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19043.hp2 NA21309.hp2 HG03130.hp1 NA19043.hp2 NA21309.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0009 a0006c0008t0009	a0006c0008t0009g0081 a0006c0008t0009g0082 a0006c0008t0009g0110 a0006c0008t0009g0081 a0006c0008t0009g0082 a0006c0008t0009g0110	3	214	0.0140	-117	c.161 others(19): Show c.161+15420_161+15536del	ZRANB3	ENSG00000121988.18	transcript	ENST00000264159.11	protein_coding	2/20			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1289071	TCCCCCGA others(109): Show TCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	295	0.0034	-116	c.43 others(11): Show c.4377_*4492del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3319		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179277859	CCCCCCCT others(109): Show CCCCCCCTGAGACCAAAGGCTGACCCCCCTGCGAGACCAAAGGCTGACCC CCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACCCCCT CCAAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18995.hp1 HG00639.hp2 NA18995.hp1	a0002 a0002	a0002c0004 a0002c0102 a0002c0004 a0002c0102	a0002c0004t0001 a0002c0102t0002 a0002c0004t0001 a0002c0102t0002	a0002c0004t0001g0268 a0002c0102t0002g0223 a0002c0004t0001g0268 a0002c0102t0002g0223	2	276	0.0073	-116	c.535 others(17): Show c.535-4911_535-4796del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1238610	CCCCTCTG others(109): Show CCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCT GCATCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0054 a0001c0001t0009g0054	1	106	0.0094	-116	c.136 others(19): Show c.1361+3405_1361+3520del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AFDN_chr6_167821911_167977023	167940878	CATATGGA others(109): Show CATATGGACAGACACAGAGAGATGTAGGGGTGAGGGTGGAAACCATCCAC AGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAA CCATCCACAGGAGAGAT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0195 a0001c0004t0001g0195	1	326	0.0031	-116	c.310 others(19): Show c.3100-2250_3100-2135del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33			chr6	TogoVar
AFDN_chr6_167821911_167977023	167940965	GTGAGGGT others(109): Show GTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGG ATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGAC ACAGAGGGATGTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00741.hp2 others(23): Show HG00140.hp1 HG00323.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01358.hp2 HG02129.hp1 HG02165.hp1 HG02280.hp1 HG02523.hp2 HG02559.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03516.hp2 HG03710.hp1 NA18950.hp2 NA18970.hp1 NA18995.hp2 NA19056.hp1 NA19067.hp1 NA19072.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0002 a0001c0004 a0012c0027 a0001c0002 a0001c0004 a0012c0027	a0001c0002t0001 a0001c0004t0001 a0012c0027t0001 a0001c0002t0001 a0001c0004t0001 a0012c0027t0001	a0001c0002t0001g0210 a0001c0004t0001g0104 a0001c0004t0001g0108 others(23): Show a0001c0002t0001g0210 a0001c0004t0001g0104 a0001c0004t0001g0108 a0001c0004t0001g0109 a0001c0004t0001g0110 a0001c0004t0001g0224 a0001c0004t0001g0225 a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0001g0288 a0001c0004t0001g0290 a0001c0004t0001g0291 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0294 a0001c0004t0001g0295 a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0300 a0001c0004t0001g0301 a0001c0004t0001g0304 a0001c0004t0001g0305 a0001c0004t0001g0306 a0001c0004t0001g0307 a0001c0004t0001g0309 a0012c0027t0001g0119	26	326	0.0798	-116	c.310 others(19): Show c.3100-2131_3100-2016del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AGMO_chr7_15195317_15567015	15354315	CGTGTATA others(109): Show CGTGTATATACGTACGCGTGTATATACACGCGTGTATATAGACGTGTGTA TATAGACGTGTGTATACACGTGTGTGTATACACGTGTGTGTACACACGTG TGTGTATACACACACGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp2 HG02129.hp1 others(6): Show HG00597.hp1 HG02080.hp2 HG02129.hp1 HG02572.hp2 HG02895.hp1 HG03017.hp1 NA18946.hp2 NA19078.hp1 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0009c0014t0001 a0001c0001t0001 a0001c0001t0002 a0009c0014t0001	a0001c0001t0001g0025 a0001c0001t0001g0090 a0001c0001t0001g0134 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0090 a0001c0001t0001g0134 a0001c0001t0001g0169 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0131 a0009c0014t0001g0180	9	236	0.0381	-116	c.126 others(21): Show c.1263+11083_1263+11198del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGRN_chr1_1015120_1061116	1029679	GTGTGTGT others(109): Show GTGTGTGTGCAGTGCATGGTGCTGTGAGATCATGTGTGTGTGCAGTGCAT GGTGCTGTGAGATCAGCGTGTGTGTGTGCAGTGCATGGTGCTGTGAGTGT GAGATCGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02897.hp1 others(4): Show HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03225.hp1 HG06807.hp2 NA21309.hp1	a0001 a0026 a0029 a0001 a0026 a0029	a0001c0011 a0001c0025 a0001c0060 others(2): Show a0001c0011 a0001c0025 a0001c0060 a0026c0059 a0029c0052	a0001c0011t0006 a0001c0025t0008 a0001c0025t0010 others(3): Show a0001c0011t0006 a0001c0025t0008 a0001c0025t0010 a0001c0060t0012 a0026c0059t0010 a0029c0052t0018	a0001c0011t0006g0010 a0001c0025t0008g0025 a0001c0025t0010g0020 others(3): Show a0001c0011t0006g0010 a0001c0025t0008g0025 a0001c0025t0010g0020 a0001c0060t0012g0162 a0026c0059t0010g0011 a0029c0052t0018g0022	7	210	0.0333	-116	c.464 others(17): Show c.464-5595_464-5480del	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG6_chr1_63362627_63443553	63400222	CGTATATA others(109): Show CGTATATATATATATATATATACGTATATATATGTATATATATATACGTA TATATATATACGTATATATATATACGTATATATATGTATATATATATACG TATATATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18966.hp1 HG00408.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0086 a0001c0008t0001g0094 a0001c0001t0001g0086 a0001c0008t0001g0094	2	388	0.0052	-116	c.168 others(17): Show c.168-2031_168-1916del	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14			chr1	TogoVar
ALOXE3_chr17_8090900_8123514	8120989	TGGGTTCG others(109): Show TGGGTTCGAATCCCACCAGAGTCGATTTTATTTCAATTTTTCCTTTTTAT CCGTTTTTTTCTTAAAGGCCCCCATCCCTTCTCCCCCTACCCTATCTCTC TCTTTCCACCTGGTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	422	0.0024	-116	c.-29 others(11): Show c.-2933_-2818del	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding		2476		chr17	TogoVar
ANOS1_chrX_8523874_8737137	8725571	CATATATA others(109): Show CATATATACAGATATATATATACAGATATATATATACAGATATATATATA TACAGATATATATATACAGATATATATACAGATATATATATATACAGATA TATATATACAGATATAT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02004.hp2 others(8): Show HG01516.hp2 HG01517.hp2 HG02004.hp2 HG02055.hp1 HG02145.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0030 a0002c0002t0001 a0002c0002t0004 a0002c0002t0022 a0002c0002t0026	a0001c0001t0005g0014 a0001c0001t0007g0006 a0001c0001t0010g0003 others(8): Show a0001c0001t0005g0014 a0001c0001t0007g0006 a0001c0001t0010g0003 a0001c0001t0030g0104 a0002c0002t0001g0005 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0004g0015 a0002c0002t0004g0016 a0002c0002t0022g0122 a0002c0002t0026g0018	11	231	0.0476	-116	c.207 others(17): Show c.207+6143_207+6258del	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	1/13			chrX	TogoVar
APBB2_chr4_40805027_41219542	41066072	TTAAAAGC others(109): Show TTAAAAGCTTGAAATGAGGAAATTTTTTTTTCTGTATTGGAGAGGTTAGA TGTCATGTTGATTGGAAAAAAAAAAAAACTTTTCAGTGACATATAACATA TAGAAAATGCACACACG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(26): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00733.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01981.hp1 HG01993.hp1 HG02109.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03491.hp1 HG03704.hp1 HG06807.hp2 NA18970.hp2 NA19030.hp1 NA19087.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0008	a0001c0002t0022 a0001c0003t0001 a0001c0003t0030 others(16): Show a0001c0002t0022 a0001c0003t0001 a0001c0003t0030 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0009 a0001c0004t0013 a0001c0004t0019 a0001c0004t0020 a0001c0004t0051 a0001c0004t0052 a0002c0001t0003 a0002c0001t0005 a0002c0001t0014 a0002c0008t0046	a0001c0002t0022g0031 a0001c0003t0001g0185 a0001c0003t0030g0021 others(26): Show a0001c0002t0022g0031 a0001c0003t0001g0185 a0001c0003t0030g0021 a0001c0004t0001g0121 a0001c0004t0002g0112 a0001c0004t0002g0116 a0001c0004t0002g0192 a0001c0004t0003g0043 a0001c0004t0003g0103 a0001c0004t0003g0111 a0001c0004t0004g0044 a0001c0004t0004g0045 a0001c0004t0004g0046 a0001c0004t0004g0047 a0001c0004t0004g0129 a0001c0004t0004g0140 a0001c0004t0004g0144 a0001c0004t0005g0163 a0001c0004t0006g0160 a0001c0004t0009g0114 a0001c0004t0013g0022 a0001c0004t0019g0073 a0001c0004t0020g0161 a0001c0004t0051g0141 a0001c0004t0052g0093 a0002c0001t0003g0123 a0002c0001t0005g0152 a0002c0001t0014g0063 a0002c0008t0046g0090	29	192	0.1510	-116	c.-14 others(17): Show c.-148-515_-148-400del	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	3/17			chr4	TogoVar
ARHGEF10_chr8_1818926_1963641	1888707	GTGAGGAG others(109): Show GTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGGG TGAGGTTTGTGAGGAGACACTGAGTGGGGTGAGTATTGTGAGGAGACACT GAGTGGGGTGAGAGTTA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02257.hp2 others(18): Show HG01081.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA21309.hp2	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0002 a0001c0003 a0001c0005 others(14): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0023 a0001c0045 a0001c0051 a0001c0104 a0001c0106 a0001c0107 a0001c0125 a0001c0146 a0001c0147 a0001c0156 a0003c0039 a0003c0043 a0021c0091	a0001c0002t0003 a0001c0003t0051 a0001c0005t0031 others(17): Show a0001c0002t0003 a0001c0003t0051 a0001c0005t0031 a0001c0007t0003 a0001c0023t0001 a0001c0023t0010 a0001c0045t0001 a0001c0051t0032 a0001c0051t0052 a0001c0104t0010 a0001c0106t0002 a0001c0107t0015 a0001c0125t0001 a0001c0146t0062 a0001c0147t0015 a0001c0156t0009 a0003c0039t0009 a0003c0043t0002 a0003c0043t0004 a0021c0091t0034	a0001c0002t0003g0151 a0001c0003t0051g0118 a0001c0005t0031g0351 others(18): Show a0001c0002t0003g0151 a0001c0003t0051g0118 a0001c0005t0031g0351 a0001c0007t0003g0346 a0001c0023t0001g0034 a0001c0023t0010g0160 a0001c0045t0001g0332 a0001c0045t0001g0333 a0001c0051t0032g0149 a0001c0051t0052g0336 a0001c0104t0010g0162 a0001c0106t0002g0157 a0001c0107t0015g0345 a0001c0125t0001g0335 a0001c0146t0062g0339 a0001c0147t0015g0150 a0001c0156t0009g0265 a0003c0039t0009g0038 a0003c0043t0002g0328 a0003c0043t0004g0349 a0021c0091t0034g0350	21	363	0.0579	-116	c.118 others(19): Show c.1182+3044_1182+3159del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888922	TGGGGTGA others(109): Show TGGGGTGAGGGGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGA GGAGACACTGAGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAG AGTTGTGAGGAAACATG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0059 a0002c0025t0059	a0002c0025t0059g0105 a0002c0025t0059g0105	1	363	0.0028	-116	c.118 others(19): Show c.1182+3217_1182+3332del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF1_chr19_41878184_41912452	41893717	GTCTGGGT others(109): Show GTCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGCCTGGACGCCTGGGTCTG AGGGAGGAGGGGGCTGGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGG GGCTGGGGGCCTGGACT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(29): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG02040.hp1 HG02132.hp2 HG02165.hp1 HG02523.hp2 HG03688.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18951.hp2 NA18954.hp2 NA18961.hp2 NA18965.hp2 NA18970.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA19001.hp1 NA19009.hp2 NA19011.hp2 NA19065.hp2 NA19079.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0002 a0001c0022 a0002c0004 others(1): Show a0001c0002 a0001c0022 a0002c0004 a0014c0025	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0022t0001 a0002c0004t0001 a0014c0025t0001	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0037 others(20): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0002g0039 a0001c0002t0005g0001 a0001c0022t0001g0001 a0002c0004t0001g0001 a0002c0004t0001g0047 a0002c0004t0001g0048 a0014c0025t0001g0036	32	234	0.1368	-116	c.644 others(15): Show c.644+415_645-374del	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28			chr19	TogoVar
ARID3A_chr19_921035_980939	950090	TGAACGGA others(109): Show TGAACGGATGGATGAGGCCGTCCCCAGAGTGAACGGATGGATGAGGCCGT CCCCAGAGTGAACGGATGGATGAGGCCGTCCCCAGAGTGAACGGATGGAT GAGGCCGTCCCCAGAGG	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0091 a0002c0003t0091	a0002c0003t0091g0125 a0002c0003t0091g0125	1	364	0.0028	-116	c.694 others(17): Show c.694-9973_694-9858del	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID3A_chr19_921035_980939	950148	TGAACGGA others(109): Show TGAACGGATGGATGAGGCCGTCCCCAGAGTGAACGGATGGATGAGGCCGT CCCCAGAGGGAACGGATGGATGAGGCCGTCCCCAGAGGGAACGGATGGAT GAGGCCGTCCCCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0018 a0002c0008t0018	a0002c0008t0018g0013 a0002c0008t0018g0013	1	364	0.0028	-116	c.694 others(17): Show c.694-9915_694-9800del	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID3A_chr19_921035_980939	950268	CGGATGGA others(109): Show CGGATGGATGAGGCCGTCCCCAGAGGGAACGGATGGATGAGGCCGTCCCC AGAGGGAACGGATGGATGAGGCCGTCCCCAGAGGGAACGGATGGATGAGG CCGTCCCCAGAGGGAAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03098.hp2 HG01256.hp1 HG03098.hp2	a0002 a0003 a0002 a0003	a0002c0008 a0003c0016 a0002c0008 a0003c0016	a0002c0008t0006 a0003c0016t0115 a0002c0008t0006 a0003c0016t0115	a0002c0008t0006g0286 a0003c0016t0115g0003 a0002c0008t0006g0286 a0003c0016t0115g0003	2	364	0.0055	-116	c.694 others(17): Show c.694-9799_694-9684del	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ASAP2_chr2_9201812_9410678	9406083	GTGTTTGT others(109): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03486.hp1 HG02976.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0048 a0001c0002t0008g0206 a0001c0002t0008g0048 a0001c0002t0008g0206	2	210	0.0095	-116	c.27 others(11): Show c.2757_*2872del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		406		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406251	GTGTTTGT others(109): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0021 a0001c0004t0005g0021	1	210	0.0048	-116	c.29 others(11): Show c.2925_*3040del	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		574		chr2	TogoVar
ATP10A_chr15_25673712_25868327	25757941	CCTAACTC others(109): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0059 a0059	a0059c0028 a0059c0028	a0059c0028t0001 a0059c0028t0001	a0059c0028t0001g0048 a0059c0028t0001g0048	1	300	0.0033	-116	c.655 others(19): Show c.655-21916_655-21801del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758137	CCTAACTC others(109): Show CCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	300	0.0033	-116	c.655 others(19): Show c.655-22112_655-21997del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B3GALT1_chr2_167288001_167879045	167875998	TATACGTA others(109): Show TATACGTATATATATATATACGTATATATATATATACGTATATATATATA TATACGTATATATATATATGTATATATATATATACGTATATATATATATG TATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	118	0.0085	-116	c.59 others(11): Show c.5979_*6094del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1954		chr2	TogoVar
BRSK2_chr11_1384934_1467689	1435232	AGCGGAGG others(109): Show AGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG01069.hp1 others(5): Show HG00408.hp1 HG00544.hp1 HG01069.hp1 HG02630.hp2 HG02896.hp1 HG03579.hp2 NA18955.hp1 NA19091.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0003 a0004c0031 others(1): Show a0001c0001 a0001c0003 a0004c0031 a0010c0033	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0003t0014 a0004c0031t0001 a0010c0033t0001	a0001c0001t0001g0109 a0001c0001t0001g0186 a0001c0001t0004g0185 others(5): Show a0001c0001t0001g0109 a0001c0001t0001g0186 a0001c0001t0004g0185 a0001c0001t0011g0352 a0001c0001t0013g0311 a0001c0003t0014g0036 a0004c0031t0001g0110 a0010c0033t0001g0146	8	360	0.0222	-116	c.92- others(13): Show c.92-561_92-446del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD19_chr1_44803523_44820585	44816566	ATATTATA others(109): Show ATATTATATATACACATAGATGTGTGTGTATATATATACACATAGATGTG TGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATACACA TAGATGTGTGTGTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	436	0.0023	-116	c.27 others(11): Show c.2795_*2910del	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		982		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816595	ATATATAT others(109): Show ATATATATACACATAGATGTGTGTGTATATTATATATACACATAGATGTG TGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATACACA TAGATGTGTGTGTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01934.hp2 HG02165.hp1 others(9): Show HG01891.hp2 HG01934.hp2 HG02165.hp1 NA18942.hp2 NA18964.hp1 NA18978.hp2 NA18989.hp1 NA18990.hp1 NA19067.hp1 NA19083.hp1 NA19086.hp2 NA19088.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0002 a0009c0005 a0001c0001 a0003c0002 a0009c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0088 a0003c0002t0071 a0009c0005t0009	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0016 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0002g0009 a0001c0001t0007g0002 a0001c0001t0011g0004 a0001c0001t0011g0023 a0001c0001t0088g0002 a0003c0002t0071g0064 a0009c0005t0009g0009	12	436	0.0275	-116	c.28 others(11): Show c.2824_*2939del	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1011		chr1	TogoVar
C11orf21_chr11_2290628_2306918	2300104	TTGTGAGG others(109): Show TTGTGAGGGTGGGCAGGGGTGTGTGGGGTGGGCAGGGGTGTGTGGGGTGG GCAGGGGCATGTGGGGTGGGCAGGGGTGTGTGAGGTTGGGCAGGGGCGTG TGGGGTGGGCAGGGGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	426	0.0024	-116	c.147 others(15): Show c.147+300_148-398del	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding	2/3			chr11	TogoVar
C16orf74_chr16_85702517_85756096	85753314	TGCACTAA others(109): Show TGCACTAATGACTGGAGGCCGAGGAGGATGTGTTTTGTCAACTGTACAGA CTGAGATGAGGAGTGGAAAGAATCCGGCTGCCTCCTCCCCCAGGAGGCTG CTGCCGTGAGAACAGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	410	0.0024	-116	c.-25 others(11): Show c.-2523_-2408del	C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding		2219		chr16	TogoVar
C4orf19_chr4_37448925_37598510	37585405	GTGTTGAG others(109): Show GTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGG GGAGGGGAGAGGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0047 a0005c0009t0047	a0005c0009t0047g0277 a0005c0009t0047g0277	1	354	0.0028	-116	c.-22 others(17): Show c.-22-3422_-22-3307del	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585512	AGAGGAGA others(109): Show AGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGAAG GAGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGT TGAGGAAGGAGAGGGGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0190 a0001c0001t0005g0190	1	354	0.0028	-116	c.-22 others(17): Show c.-22-3326_-22-3211del	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CACNA1E_chr1_181478517_181813084	181728837	CGTGTGTG others(109): Show CGTGTGTGTACACTGCTCAGGTGTGTGTGCATTTTGCTCGGGTGTGTGTG CCCTGCTCAGCTGTGTGTGCCCTGCACAGATGTGTGAACATTGCTCAGGT GTGTGTGCCCTGCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03098.hp2 HG03471.hp2 HG00597.hp1 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0008 a0001c0001t0001 a0001c0004t0008	a0001c0001t0001g0166 a0001c0004t0008g0032 a0001c0004t0008g0122 a0001c0001t0001g0166 a0001c0004t0008g0032 a0001c0004t0008g0122	3	206	0.0146	-116	c.224 others(19): Show c.2241-2114_2241-1999del	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	18/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CALCR_chr7_93419486_93579724	93540675	GTTATACA others(109): Show GTTATACATCTTTATTATATTTTATATATTATATTTTATATATATTATAT ATTTATATTATATAATATTATATTTATATTATATAATATTATATTTATAT ATTATATTTTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18981.hp2 NA18984.hp2 NA18989.hp2 NA18991.hp1 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0005t0003 a0001c0006t0009 a0001c0006t0027 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0014 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0007t0002	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0160 others(92): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0231 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0076 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0001t0003g0189 a0001c0001t0003g0192 a0001c0001t0003g0201 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0005g0085 a0001c0001t0005g0155 a0001c0001t0005g0175 a0001c0001t0005g0181 a0001c0001t0005g0209 a0001c0001t0006g0210 a0001c0001t0008g0009 a0001c0001t0010g0193 a0001c0001t0015g0008 a0001c0001t0015g0015 a0001c0001t0018g0004 a0001c0001t0019g0010 a0001c0005t0003g0003 a0001c0005t0003g0196 a0001c0005t0003g0197 a0001c0006t0009g0215 a0001c0006t0027g0213 a0002c0002t0001g0025 a0002c0002t0001g0154 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0214 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0239 a0002c0002t0001g0248 a0002c0002t0002g0027 a0002c0002t0002g0159 a0002c0002t0007g0011 a0002c0002t0007g0012 a0002c0002t0007g0013 a0002c0002t0007g0017 a0002c0002t0007g0018 a0002c0002t0007g0019 a0002c0002t0008g0005 a0002c0002t0008g0006 a0002c0002t0008g0007 a0002c0002t0008g0016 a0002c0002t0014g0002 a0002c0002t0020g0014 a0002c0002t0021g0150 a0002c0002t0022g0020 a0002c0007t0002g0080 a0002c0007t0002g0081	97	292	0.3322	-116	c.-27 others(19): Show c.-27+33498_-27+33613del	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004364	GGAGAGGG others(109): Show GGAGAGGGGGGTTAGGGAGAAGGGAGTTAGGGAGGGGAGTTAGGGAGAGG GGAGTTAGGGAGGGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTA GGGAGGGGAGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00609.hp1 others(16): Show HG00140.hp1 HG00408.hp1 HG00609.hp1 HG01433.hp2 HG01515.hp1 HG02027.hp2 HG03831.hp2 NA18906.hp1 NA18943.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18965.hp1 NA18969.hp2 NA18978.hp1 NA18995.hp1 NA19086.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008	a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0027 others(7): Show a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0027 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0166 a0001c0002t0006g0051 a0001c0002t0008g0271	19	394	0.0482	-116	c.-14 others(19): Show c.-147+5184_-147+5299del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CARD14_chr17_80165030_80214331	80184619	ATCCTCCT others(109): Show ATCCTCCTTTGTCCTTCTCAGCTGGTCCTGGACTCAGGCGGGATAGTTGG TCTCTGTCGTCCTCCTTTGTCCTTCTCAGCTGGTCCTGGACTCAGGCGGG ATAGTTGGTCTCTGTCG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02683.hp1 HG02738.hp1 others(5): Show HG01074.hp1 HG02683.hp1 HG02738.hp1 HG02922.hp2 HG03239.hp2 HG03490.hp1 HG03942.hp1 NA20805.hp2	a0002 a0003 a0010 others(1): Show a0002 a0003 a0010 a0014	a0002c0002 a0002c0005 a0003c0006 others(2): Show a0002c0002 a0002c0005 a0003c0006 a0010c0020 a0014c0028	a0002c0002t0001 a0002c0005t0001 a0003c0006t0001 others(2): Show a0002c0002t0001 a0002c0005t0001 a0003c0006t0001 a0010c0020t0006 a0014c0028t0005	a0002c0002t0001g0216 a0002c0005t0001g0222 a0003c0006t0001g0203 others(5): Show a0002c0002t0001g0216 a0002c0005t0001g0222 a0003c0006t0001g0203 a0010c0020t0006g0146 a0010c0020t0006g0148 a0010c0020t0006g0149 a0014c0028t0005g0058 a0014c0028t0005g0085	8	376	0.0213	-116	c.675 others(15): Show c.675+539_675+654del	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARMIL1_chr6_25274374_25625530	25586393	AATGGGCG others(109): Show AATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACAGGATGGCGGC CGGGAAGAGGCGCTCCTCACTTCCCAGACTGGGCGGGTGGGCAGAGGGGC TCCTCACATCCCAGACG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02486.hp1 HG02615.hp2 others(4): Show HG00735.hp1 HG02486.hp1 HG02615.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0022	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0105 others(4): Show a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0105 a0001c0002t0003g0017 a0001c0002t0005g0175 a0001c0002t0005g0180 a0001c0002t0022g0164	7	186	0.0376	-116	c.300 others(19): Show c.3006+4993_3006+5108del	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	31/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC57_chr17_82096470_82217842	82162553	TTGACCAG others(109): Show TTGACCAGGACCCCTCTGAGCGGGCAGGTGGCATCGGGCAGCCCGCACAC ACGCCCCACTGACCAGGACCCCTCTGAGCGGGCAGGTGGCATCGGGCAGC CCGCACACACGCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02004.hp1 HG03130.hp1 others(1): Show HG01261.hp1 HG02004.hp1 HG03130.hp1 HG03540.hp2	a0003 a0013 a0016 a0003 a0013 a0016	a0003c0004 a0013c0014 a0016c0025 a0003c0004 a0013c0014 a0016c0025	a0003c0004t0003 a0013c0014t0001 a0016c0025t0001 a0003c0004t0003 a0013c0014t0001 a0016c0025t0001	a0003c0004t0003g0089 a0013c0014t0001g0019 a0013c0014t0001g0020 others(1): Show a0003c0004t0003g0089 a0013c0014t0001g0019 a0013c0014t0001g0020 a0016c0025t0001g0226	4	252	0.0159	-116	c.204 others(17): Show c.2040+531_2040+646del	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	13/18			chr17	TogoVar
CDH4_chr20_61247261_61945617	61585649	GTGATGGT others(109): Show GTGATGGTGATGGTGATTGTGATGGTGATGGTGATGGTGATGATTGTGGT CATGTGGAGGATGGTGGTGATGATGGTGATGTGGTGATGGGGAGGATGAT GGTGATGAAGATGATGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0091 a0001c0001t0019g0091	1	106	0.0094	-116	c.170 others(21): Show c.170-157878_170-157763del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP192_chr18_12986362_13130036	13098482	CGCTCCTC others(109): Show CGCTCCTCACCTCCCAGATGGGGTCGCGGCCGGGCAGAGGCGCTCCTCAC ATCCCAGACTGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATG GGCGGCCGGGCAGAGAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0220 a0009c0009t0001g0220	1	392	0.0026	-116	c.655 others(17): Show c.6558-984_6558-869del	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	36/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CHMP6_chr17_80986841_81005133	80994734	GGGGGGCC others(109): Show GGGGGGCCCGGGCAGCGTGGGCACCCTGTCGGCTGGGGTGGGGGGCCCGG GCAGCGTGGGCACCCTGTCGGCTGGGGTGGGGGGCCCGGGCAGCGTGGGC ACCCTGTCGGCTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0092 a0001c0001t0022g0092	1	438	0.0023	-116	c.173 others(14): Show c.173+50_174-164del	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CLEC19A_chr16_19280731_19315947	19315064	GAGGGGGA others(109): Show GAGGGGGAGGAGGAGGAGGGAAAGTGGAAAGGGGAGGAGGGAAAGGAGGG AAGGGAGGAGGGGGAGTGGGGGTGGAGAGAAAAAACAGATGATAGGTAAC AGATTAATAATAAATAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0098 a0002c0003t0002g0098	1	426	0.0024	-116	c.59 others(11): Show c.5982_*6097del	CLEC19A	ENSG00000261210.8	transcript	ENST00000636231.2	protein_coding		4118		chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1323273	TGGGCAGC others(109): Show TGGGCAGCAGAGGCTGGAGGCTCCGGGATCCCTCTTGGCTCAGGGCCAGC AGCCCACCTGGGCAACAGAGGCTGGGGGCTCCGGGATCCCTCTTGGCTCA GGGCCAGCACCCCACCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00733.hp2 others(11): Show HG00438.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01106.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG01978.hp2 HG02155.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0267 a0001c0001t0001g0293 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0267 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312	14	370	0.0378	-116	c.128 others(17): Show c.1280+398_1281-363del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	12/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1326725	TACGGGGA others(109): Show TACGGGGACATTTCATCCAGCTCCTCCTCTACAGGGACAATCCATCCAGC TCCTCCTCTACAGGGACATTTCATCCAGCTCCTCCCCTACAGGGACATTT CATCCAGCTCCTCCTCG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	370	0.0027	-116	c.108 others(18): Show c.1081-1025_1081-910del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329527	AGCCTCAG others(109): Show AGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTG GTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTC TCTGCCTGGTGGACAGG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	370	0.0027	-116	c.108 others(17): Show c.1080+637_1080+752del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLSTN2_chr3_139930185_140582397	140490013	TGTGTGTG others(109): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA TATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01243.hp1 others(13): Show HG01167.hp1 HG01169.hp2 HG01243.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG03098.hp2 HG03486.hp1 HG03579.hp2 HG03688.hp2 NA19066.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0008 others(9): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0015 a0002c0002 a0002c0004 a0002c0010 a0002c0016 a0002c0021 a0002c0023 a0005c0013	a0001c0001t0025 a0001c0001t0030 a0001c0003t0012 others(11): Show a0001c0001t0025 a0001c0001t0030 a0001c0003t0012 a0001c0008t0016 a0001c0009t0018 a0001c0009t0022 a0001c0015t0001 a0002c0002t0044 a0002c0004t0037 a0002c0010t0023 a0002c0016t0015 a0002c0021t0009 a0002c0023t0010 a0005c0013t0008	a0001c0001t0025g0004 a0001c0001t0030g0059 a0001c0003t0012g0052 others(13): Show a0001c0001t0025g0004 a0001c0001t0030g0059 a0001c0003t0012g0052 a0001c0003t0012g0053 a0001c0008t0016g0051 a0001c0009t0018g0018 a0001c0009t0022g0049 a0001c0015t0001g0021 a0002c0002t0044g0096 a0002c0004t0037g0073 a0002c0010t0023g0081 a0002c0016t0015g0088 a0002c0021t0009g0030 a0002c0023t0010g0104 a0005c0013t0008g0099 a0005c0013t0008g0106	16	110	0.1455	-116	c.134 others(21): Show c.1344+23283_1344+23398del	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16			chr3	TogoVar
COL5A1_chr9_134636803_134849843	134759582	CCACACAT others(109): Show CCACACATGCATACACCCCCACACCCCCACACACATATGCACACATACAC CCATATTCATACACACATGCACACATACGCATGCACACCCCCACACCCCC ACACTCATACACATATG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG03041.hp1 HG02257.hp2 HG02922.hp2 HG03041.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0012 a0001c0014t0046 a0001c0014t0001 a0001c0014t0012 a0001c0014t0046	a0001c0014t0001g0022 a0001c0014t0012g0021 a0001c0014t0046g0020 a0001c0014t0001g0022 a0001c0014t0012g0021 a0001c0014t0046g0020	3	272	0.0110	-116	c.193 others(19): Show c.1935+1297_1935+1412del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CPXM2_chr10_123740639_123896807	123790217	TCAGAGCA others(109): Show TCAGAGCAGGTGACCAGGGGTGACTCAGGATGGAGCAGGTGACTAGGAGT GACTGAAGACGGAGCAGGTGACCAGGGGTGACTCAGGATGGAGCAGGTGA CTAGGAGTGACTGAAGA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01258.hp2 HG02258.hp1 others(2): Show HG01175.hp1 HG01258.hp2 HG02258.hp1 HG02280.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0009 a0001c0003 a0001c0004 a0003c0009	a0001c0003t0001 a0001c0004t0002 a0003c0009t0001 a0001c0003t0001 a0001c0004t0002 a0003c0009t0001	a0001c0003t0001g0272 a0001c0004t0002g0156 a0003c0009t0001g0117 others(2): Show a0001c0003t0001g0272 a0001c0004t0002g0156 a0003c0009t0001g0117 a0003c0009t0001g0118 a0003c0009t0001g0119	5	288	0.0174	-116	c.889 others(17): Show c.889+7643_889+7758del	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	6/13			chr10	TogoVar
CSRP2_chr12_76853709_76884019	76871060	TTCATAAT others(109): Show TTCATAATGGAAGGAGGGAGAGGAAGTTGATTGACTGGTTTAAACACACC TGGATTAACTCCACCGTTATAATAGCTGCGCAACCTTGGGCTTCATTTTC TCAAGCTAAAAATGGGG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG02572.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0026 a0001c0001t0003g0027	2	388	0.0052	-116	c.-1- others(15): Show c.-1-4915_-1-4800del	CSRP2	ENSG00000175183.10	transcript	ENST00000311083.10	protein_coding	1/5			chr12	TogoVar
CYP2R1_chr11_14872440_14897231	14879524	GGATAACC others(109): Show GGATAACCTATAACAAGCCAATAGGATATAGATACATCCAGATTCAGATT TTTTATTATCTGGGCGTTCTATTGAAATATATGCTATATATCTTGTACTA ACAGTAGCCAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02976.hp1 others(3): Show HG02647.hp1 HG02723.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 a0001c0001t0001 a0001c0003t0001 a0002c0005t0001	a0001c0001t0001g0032 a0001c0003t0001g0039 a0001c0003t0001g0053 others(1): Show a0001c0001t0001g0032 a0001c0003t0001g0039 a0001c0003t0001g0053 a0002c0005t0001g0050	6	404	0.0149	-116	c.100 others(16): Show c.1001-197_1001-82del	CYP2R1	ENSG00000186104.11	transcript	ENST00000334636.10	protein_coding	3/4			chr11	TogoVar
CYP4F12_chr19_15668087_15702174	15673987	CTACCCAC others(109): Show CTACCCACTCACTCCTCTACCCACTCACTCACTCCTCTACCCACTCACTC ACTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTAC CCACTCACTCACTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(75): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02683.hp2 HG02895.hp1 HG02897.hp2 HG03491.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18943.hp2 NA18944.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18981.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19070.hp1 NA19075.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0019c0021	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0019c0021t0001	a0001c0001t0001g0026 a0002c0002t0001g0001 a0002c0002t0001g0010 others(29): Show a0001c0001t0001g0026 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0005t0001g0001 a0002c0005t0001g0027 a0019c0021t0001g0151	78	410	0.1902	-116	c.198 others(15): Show c.198+262_198+377del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DACH1_chr13_71432966_71872204	71779150	CATATATA others(109): Show CATATATACGTATATACGTATATATATACACATATATACGTATATACGTA TATATGTGTATATATATACGTATATACGTATATATACACATATATACGTA TATACGTATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp1 HG03195.hp2 others(1): Show HG02258.hp1 HG03098.hp1 HG03195.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0002g0032 a0001c0001t0002g0039 others(1): Show a0001c0001t0001g0009 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0003g0019	4	102	0.0392	-116	c.848 others(19): Show c.848+86656_848+86771del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar

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