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
PRKCZ_chr1_2045411_2190395	2121507	TGGTGGTA others(137): Show TGGTGGTACTTAAGGTCATGGCAGTAGTTAGGGTTATATCAGTAGTTAGG GCTATGGCTGTAGTTAGGGTGATGGTGGTAGTTAAGGTCACAGCAGTAAT TAGGGTCATGGTGGTGGTTAGGGTCACAGTGGTAGTTAGGGTCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02970.hp2 HG00280.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0158 a0001c0003t0003g0185 a0001c0002t0001g0158 a0001c0003t0003g0185	2	286	0.0070	-144	c.335 others(19): Show c.335-13748_335-13605del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123363	TGGTTAGG others(137): Show TGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTG GTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGT GGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	286	0.0035	-144	c.335 others(19): Show c.335-11895_335-11752del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123407	ACGGTGGT others(137): Show ACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGT TGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGG CGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	286	0.0035	-144	c.335 others(19): Show c.335-11854_335-11711del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123409	GGTGGTGG others(137): Show GGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTG TGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCG GTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp2 HG01934.hp2 others(1): Show HG01358.hp2 HG01496.hp2 HG01934.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0257 a0001c0002t0001g0013 a0001c0003t0001g0052 others(1): Show a0001c0001t0001g0257 a0001c0002t0001g0013 a0001c0003t0001g0052 a0001c0003t0001g0109	4	286	0.0140	-144	c.335 others(19): Show c.335-11838_335-11695del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSMB1_chr6_170530120_170558307	170547898	AGTGCTCA others(137): Show AGTGCTCACTTCACCAGCAAACGTAACTAAAGCAATATTTAAAAGATGAG TAAAAGCTAGTACAAGGATGGTATCCATAAAGTTGTTTTAAAATCTTATT TCTAATATTTACTACTTTCAAGTTGTACAAGTGTCGTCCTTGAGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	364	0.0028	-144	c.221 others(16): Show c.221+964_221+1107del	PSMB1	ENSG00000008018.9	transcript	ENST00000262193.7	protein_coding	2/5			chr6	TogoVar
PTDSS2_chr11_445279_496399	485741	TGCGCAGG others(137): Show TGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTGCTCACCGTGCG CGCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTGCTCACCGTGCGCG CAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTGCTCACCGTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(15): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0002c0003t0005 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0003t0005 a0002c0003t0006	a0001c0001t0001g0020 a0001c0001t0001g0255 a0001c0001t0006g0189 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0255 a0001c0001t0006g0189 a0001c0001t0006g0190 a0002c0003t0005g0017 a0002c0003t0005g0018 a0002c0003t0005g0188 a0002c0003t0005g0191 a0002c0003t0005g0192 a0002c0003t0005g0193 a0002c0003t0005g0194 a0002c0003t0005g0195 a0002c0003t0005g0197 a0002c0003t0006g0196 a0002c0003t0006g0198	18	346	0.0520	-144	c.436 others(16): Show c.436-1085_436-942del	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RETNLB_chr3_108750638_108762410	108759494	TATATGTA others(137): Show TATATGTATGTATGTGTATACATACATATGTATGTATGTGTATACATACA TATGTATGTATGTGTATACATACATATGTATGTATGTGTATACATACATA TGTATGTATGTGTATACATACATATGTATGTATGTGTATACATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02976.hp1 HG02559.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	2	452	0.0044	-144	c.-24 others(11): Show c.-2453_-2310del	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RIMBP2_chr12_130391133_130721299	130646130	TCCACCTC others(137): Show TCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTC CACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCA CCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCTCA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	180	0.0056	-144	c.-35 others(21): Show c.-351-17818_-351-17675del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNF151_chr16_1961856_1973949	1970103	AATCCTCC others(137): Show AATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCACCA CGACTGCCGGCTAATTTTTGTGTTTATTTTAGAGATGGGGTTTCACTGTG TTATCCAGACTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	-144	c.11 others(11): Show c.1179_*1322del	RNF151	ENSG00000179580.10	transcript	ENST00000569714.6	protein_coding		1155		chr16	TogoVar
RNF213_chr17_80255852_80403794	80314712	ATGGTGGA others(137): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACT GGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGA AGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02132.hp2 NA19081.hp1 HG02040.hp1 HG02132.hp2 NA19081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0011 a0001c0004t0014 a0001c0004t0007 a0001c0004t0011 a0001c0004t0014	a0001c0004t0007g0047 a0001c0004t0011g0048 a0001c0004t0014g0046 a0001c0004t0007g0047 a0001c0004t0011g0048 a0001c0004t0014g0046	3	292	0.0103	-144	c.281 others(19): Show c.2811+1575_2811+1718del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315369	GTGGAGGT others(137): Show GTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTACTGGAGGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTACTGGAGGTGA TGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp2 HG02630.hp1 HG02970.hp2	a0002 a0014 a0002 a0014	a0002c0099 a0014c0118 a0002c0099 a0014c0118	a0002c0099t0058 a0014c0118t0057 a0002c0099t0058 a0014c0118t0057	a0002c0099t0058g0255 a0014c0118t0057g0167 a0002c0099t0058g0255 a0014c0118t0057g0167	2	292	0.0069	-144	c.281 others(19): Show c.2812-1811_2812-1668del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF44_chr5_176521712_176542402	176530222	GGTGCAGG others(137): Show GGTGCAGGTCAGCCCAGCAGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGG TGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTG CAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	444	0.0023	-144	c.802 others(14): Show c.802-160_802-17del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530228	GGTCAGCC others(137): Show GGTCAGCCCAGCAGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAG TCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTC AGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02027.hp1 HG02602.hp1 others(1): Show HG00423.hp1 HG02027.hp1 HG02602.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 a0001c0001t0001 a0001c0001t0003 a0001c0001t0034	a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0003g0098 others(1): Show a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0003g0098 a0001c0001t0034g0191	4	444	0.0090	-144	c.802 others(14): Show c.802-166_802-23del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530239	CAGGCCTG others(137): Show CAGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGTG GGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGTGGG CCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01123.hp2 others(38): Show HG00423.hp2 HG00544.hp2 HG01123.hp2 HG01257.hp1 HG01891.hp2 HG01928.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02976.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp2 HG03927.hp2 NA18522.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18971.hp1 NA18977.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA19003.hp1 NA19057.hp2 NA19068.hp2 NA19070.hp1 NA19082.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0020 a0001c0003t0001 a0001c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0048 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0002g0225 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0010g0131 a0001c0001t0020g0033 a0001c0003t0001g0138 a0001c0014t0001g0127	41	444	0.0923	-144	c.802 others(14): Show c.802-177_802-34del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530240	AGGCCTGC others(137): Show AGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGTGG GCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGTGGGC CTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01884.hp2 HG02723.hp1 others(7): Show HG00621.hp2 HG01884.hp2 HG02723.hp1 HG04204.hp2 HG04228.hp1 NA18978.hp2 NA18986.hp1 NA19055.hp2 NA19080.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0040	a0001c0001t0004g0069 a0001c0001t0004g0074 a0001c0001t0005g0114 others(5): Show a0001c0001t0004g0069 a0001c0001t0004g0074 a0001c0001t0005g0114 a0001c0001t0007g0200 a0001c0001t0008g0027 a0001c0001t0012g0100 a0001c0001t0018g0120 a0001c0001t0040g0215	10	444	0.0225	-144	c.802 others(14): Show c.802-178_802-35del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530288	GGGCCTGC others(137): Show GGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGTGG GCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGTGGGC CTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp2 HG02004.hp2 others(2): Show HG00738.hp2 HG01346.hp2 HG02004.hp2 HG02559.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0141 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0179	5	444	0.0113	-144	c.801 others(14): Show c.801+150_802-83del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530318	GGTGCAAG others(137): Show GGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACG TGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTG CAAGTCAGCCCAGCAGGCCTGCCTCCCAGCCGCCCCGGAGCCCAC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0214 a0001c0001t0031g0214	1	444	0.0023	-144	c.801 others(15): Show c.801+120_802-113del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530387	CCTGCCTC others(137): Show CCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCAGGCC TGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGTGGGCCTG CCTCCCAGCTGCCTGGGAGCCCAGATGCAGGTCGGCCCAGCGGGT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0082 a0001c0001t0011g0082	1	444	0.0023	-144	c.801 others(14): Show c.801+51_802-182del	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RORA_chr15_60483284_61234302	60515923	ATATTTAT others(137): Show ATATTTATATATATATTTATATATATTTATATATTTATATTTATATATAT TTATATATTTATATATATTTATATATATTTATATATATTTATATATATTT ATATATTTATATATATTTATATATTTATATATATTTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG03139.hp1 others(2): Show HG02055.hp2 HG02486.hp2 HG03139.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0026 a0001c0003t0027 others(1): Show a0001c0003t0015 a0001c0003t0026 a0001c0003t0027 a0001c0003t0029	a0001c0003t0015g0075 a0001c0003t0015g0077 a0001c0003t0026g0007 others(2): Show a0001c0003t0015g0075 a0001c0003t0015g0077 a0001c0003t0026g0007 a0001c0003t0027g0039 a0001c0003t0029g0070	5	118	0.0424	-144	c.283 others(17): Show c.283-1310_283-1167del	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RPTOR_chr17_80539838_80971368	80743723	GAGCACAG others(137): Show GAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCC CTGGCTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0088 a0001c0088	a0001c0088t0007 a0001c0088t0007	a0001c0088t0007g0141 a0001c0088t0007g0141	1	196	0.0051	-144	c.655 others(19): Show c.655-10264_655-10121del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743881	CTACTAGC others(137): Show CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTATGAGCACAGCCCTGGTTACTAGCACAGCCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG00741.hp1 HG01167.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0051 a0001c0025t0052 a0001c0025t0051 a0001c0025t0052	a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0025t0051g0174 a0001c0025t0052g0181	2	196	0.0102	-144	c.655 others(18): Show c.655-10119_655-9976del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743971	CTACTAGC others(137): Show CTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCACAGCCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0050 a0001c0079t0050	a0001c0079t0050g0097 a0001c0079t0050g0097	1	196	0.0051	-144	c.655 others(18): Show c.655-10029_655-9886del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744613	CCCTGGTT others(137): Show CCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACGAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0065 a0001c0021t0065	a0001c0021t0065g0112 a0001c0021t0065g0112	1	196	0.0051	-144	c.655 others(17): Show c.655-9391_655-9248del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744619	TTACTAGC others(137): Show TTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0080 a0001c0059t0080	a0001c0059t0080g0006 a0001c0059t0080g0006	1	196	0.0051	-144	c.655 others(17): Show c.655-9382_655-9239del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RUSF1_chr16_31484475_31513391	31508573	TGCTTTGT others(137): Show TGCTTTGTAGCATTCTGCAGCTGGGCTGCAGGCGCCGTGGGCCTCCGCCA GTTGTGTTCGAGACGCGGTTCGGCCACAGAAGTTTTAGCTTGTGACTTTT GGCAAGTCAGTGGCCCTCTCTGGGCCTCAGGTGCCTTTTTTGCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	378	0.0027	-144	c.-34 others(9): Show c.-344_-201del	RUSF1	ENSG00000140688.18	transcript	ENST00000327237.7	protein_coding		183		chr16	TogoVar
SARDH_chr9_133658560_133743352	133668415	TCCCTCTC others(137): Show TCCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCT CCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0001 a0003c0028t0001	a0003c0028t0001g0085 a0003c0028t0001g0085	1	262	0.0038	-144	c.249 others(19): Show c.2496-1689_2496-1546del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1289453	CCGTGTCT others(137): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	290	0.0035	-144	c.166 others(17): Show c.1663-816_1663-673del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3RF3_chr2_109124205_109509634	109199366	AATGGAAT others(137): Show AATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG AATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG AATGGAATGGAATGGAATGGAATGGAATGGATGGAATGGAATGGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0085 a0001c0003t0003g0085	1	172	0.0058	-144	c.573 others(19): Show c.573+69384_573+69527del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHISA9_chr16_12896598_13245416	12970326	CATATATA others(137): Show CATATATATATATATATACATATATGTGTATATATATATATATACATATA TATATACATATATGTATATATATATATACATATATATATATACACATATA TGTATATATATATACACACATATATATATACATATATGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp2 HG02965.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0053 a0001c0002t0062 a0001c0001t0053 a0001c0002t0062	a0001c0001t0053g0055 a0001c0002t0062g0182 a0001c0001t0053g0055 a0001c0002t0062g0182	2	214	0.0094	-144	c.691 others(19): Show c.691+53529_691+53672del	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIRT3_chr11_210030_241342	223786	GGCCCATG others(137): Show GGCCCATGAGATGACTCCTGTACCCCTCCCTTCCCCTGCCCTCCAGCCTC CTCCCTGCACAGGCCTGCCGACAGCCCATGAGATGACTCCTGTACCCCTC CCTTCCCCTGCCCTCCAGCCTCCTCCCTGCACAGGCCTGCCGACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00609.hp1 others(67): Show HG00408.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01175.hp2 HG01256.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG03654.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18957.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18987.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0003c0003t0001	a0001c0001t0001g0038 a0001c0001t0001g0131 a0001c0001t0002g0001 others(29): Show a0001c0001t0001g0038 a0001c0001t0001g0131 a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0062 a0001c0001t0002g0115 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0006g0021 a0001c0001t0006g0116 a0001c0001t0006g0134 a0003c0003t0001g0099	70	414	0.1691	-144	c.969 others(15): Show c.969+148_969+291del	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SIRT3_chr11_210030_241342	223796	ATGACTCC others(137): Show ATGACTCCTGTACCCCTCCCTTCCCCTGCCCTCCAGCCTCCTCCCTGCAC AGGCCTGCCGACAGCCCATGAGATGACTCCTGTACCCCTCCCTTCCCCTG CCCTCCAGCCTCCTCCCTGCACAGGCCTGCCGACAGCCCATGAGG	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0098 a0003c0003t0001g0098	1	414	0.0024	-144	c.969 others(15): Show c.969+138_969+281del	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SIRT3_chr11_210030_241342	223832	CCTCCTCC others(137): Show CCTCCTCCCTGCACAGGCCTGCCGACAGCCCATGAGATGACTCCTGTACC CCTCCCTTCCCCTGCCCTCCAGCCTCCTCCCTGCACAGGCCTGCCGACAG CCCATGAGGTGACTCCTGTACCCCTCCCTTCCCCTGCCCTCCAGA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01074.hp2 others(38): Show HG00323.hp2 HG00738.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01261.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02895.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA18969.hp2 NA18990.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19081.hp1 NA19090.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0002c0002t0003 a0004c0004t0003 a0011c0015t0003	a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0042 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0136 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0005g0053 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0199 a0001c0001t0009g0054 a0001c0001t0009g0205 a0001c0001t0013g0177 a0002c0002t0003g0057 a0004c0004t0003g0059 a0004c0004t0003g0223 a0004c0004t0003g0224 a0004c0004t0003g0226 a0004c0004t0003g0227 a0004c0004t0003g0228 a0011c0015t0003g0225	41	414	0.0990	-144	c.969 others(15): Show c.969+102_969+245del	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SLC6A18_chr5_1220381_1251189	1223586	GGAAGAAT others(137): Show GGAAGAATCTGGATGCTTACATTAAACTGGTGTTCTGAGAGTTCCTACGG ACAGGTCACCTCCGCTTTGCATGGAAGAATCTGGATGCTTACATTAAACT GGTGTTCTGAGAGTTCCTACGGACAGGTCACCTCTGCTTTCCATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG03239.hp1 HG03491.hp2 others(4): Show HG02735.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp2 HG04115.hp1 HG04228.hp1	a0002 a0003 a0002 a0003	a0002c0028 a0003c0010 a0002c0028 a0003c0010	a0002c0028t0001 a0003c0010t0001 a0002c0028t0001 a0003c0010t0001	a0002c0028t0001g0280 a0003c0010t0001g0003 a0003c0010t0001g0281 others(1): Show a0002c0028t0001g0280 a0003c0010t0001g0003 a0003c0010t0001g0281 a0003c0010t0001g0282	7	456	0.0154	-144	c.-18 others(11): Show c.-1891_-1748del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding		1794		chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1223586	GGAAGAAT others(137): Show GGAAGAATCTGGATGCTTACATTAAACTGGTGTTCTGAGAGTTCCTACGG ACAGGTCACCTCCGCTTTGCATGGAAGAATCTGGATGCTTACATTAAACT GGTGTTCTGAGAGTTCCTACGGACAGGTCACCTCTGCTTTCCATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 HG03239.hp2 HG03492.hp1 others(3): Show HG02735.hp2 HG03239.hp2 HG03492.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0018 a0001c0002t0018 a0001c0004t0018 a0001c0001t0018 a0001c0002t0018 a0001c0004t0018	a0001c0001t0018g0078 a0001c0001t0018g0088 a0001c0001t0018g0172 others(3): Show a0001c0001t0018g0078 a0001c0001t0018g0088 a0001c0001t0018g0172 a0001c0001t0018g0359 a0001c0002t0018g0275 a0001c0004t0018g0077	6	458	0.0131	-144	c.16 others(11): Show c.1695_*1838del	SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding	12/12	1695	INFO_REALIGN_3_PRIME	chr5	TogoVar
SMYD3_chr1_245744347_246512279	245975469	TAGGGAAA others(137): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0048 a0001c0006t0001g0048	1	150	0.0067	-144	c.532 others(19): Show c.532-45676_532-45533del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975493	CAGGGAAA others(137): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18962.hp1 HG00408.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0030 a0002c0004t0001g0121 a0001c0001t0002g0030 a0002c0004t0001g0121	2	150	0.0133	-144	c.532 others(19): Show c.532-45700_532-45557del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975661	CAGGGAAA others(137): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	150	0.0067	-144	c.532 others(19): Show c.532-45868_532-45725del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975771	GTCTCTAG others(137): Show GTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	150	0.0067	-144	c.532 others(19): Show c.532-45978_532-45835del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976017	AGCCTAGG others(137): Show AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	150	0.0067	-144	c.532 others(19): Show c.532-46224_532-46081del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976088	CGGCCCAG others(137): Show CGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCG GCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGC CCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	150	0.0067	-144	c.532 others(19): Show c.532-46295_532-46152del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976089	GGCCCAGG others(137): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0121 a0002c0004t0001g0121	1	150	0.0067	-144	c.532 others(19): Show c.532-46296_532-46153del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976285	CAGGGAAA others(137): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG02280.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0001 a0001c0002t0001 a0001c0009t0001	a0001c0002t0001g0024 a0001c0009t0001g0002 a0001c0002t0001g0024 a0001c0009t0001g0002	2	150	0.0133	-144	c.532 others(19): Show c.532-46492_532-46349del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976621	CAGGGAAA others(137): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	150	0.0067	-144	c.532 others(19): Show c.532-46828_532-46685del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976669	CAGGGAAA others(137): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02559.hp1 HG01981.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0044 a0001c0002t0001g0009 a0001c0001t0001g0044 a0001c0002t0001g0009	2	150	0.0133	-144	c.532 others(19): Show c.532-46876_532-46733del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976789	CAGGGAAA others(137): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0095 a0002c0003t0002g0095	1	150	0.0067	-144	c.532 others(19): Show c.532-46996_532-46853del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976905	AGCCTAGG others(137): Show AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	150	0.0067	-144	c.532 others(19): Show c.532-47112_532-46969del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1222727	TCCTGCCT others(137): Show TCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAG TGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGC TGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0012 a0006c0010t0001g0012	1	190	0.0053	-144	c.719 others(19): Show c.719+13503_719+13646del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980200	ATATATAT others(137): Show ATATATATATAGAATATATGTGTGTATATATATTCTCTATATATATAGAA TATATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTGTATA TATATTCTCTATATATATAGAATATATGTGTGTATATATATTCTC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03130.hp2 NA19030.hp2 HG02615.hp1 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0067	3	86	0.0349	-144	c.140 others(21): Show c.1401-33679_1401-33536del	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980272	CTATATAT others(137): Show CTATATATATAGAATATATGTGTGTATATATATTCTCTATATATATAGAA TATATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTGTATA TATATTCTCTATATATATAGAATATATGTGTGTATATATATTCTA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG02717.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0001 a0001c0001t0001g0012 a0001c0001t0002g0001	2	86	0.0233	-144	c.140 others(21): Show c.1401-33643_1401-33500del	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
TAF13_chr1_109059140_109081003	109071975	TACACACA others(137): Show TACACACATATATATATATATATATATATATATATATATACACACACATA TATATATATATATATATATACACACACATATATATATATATATATATATA TACACACACATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01981.hp2 HG02486.hp1 others(9): Show HG01358.hp2 HG01981.hp2 HG02486.hp1 HG02895.hp1 HG03491.hp1 HG03492.hp2 HG04115.hp1 NA18906.hp1 NA18940.hp1 NA18972.hp1 NA19012.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0013 a0001c0001t0002g0032 a0001c0001t0002g0108 others(6): Show a0001c0001t0002g0013 a0001c0001t0002g0032 a0001c0001t0002g0108 a0001c0001t0002g0152 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0181 a0001c0001t0004g0117 a0001c0001t0007g0116	12	414	0.0290	-144	c.106 others(17): Show c.106+2868_106+3011del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar

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