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
ATG7_chr3_11267397_11562665	11525067	GGCTCTGT others(511): Show GGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCCCACTGCA ACCTCCACCTTCTGGGCTCAAGTGATTGTCCTGCCTCAGCCTCAGCTGGG ACCACAGGCGTGCACTACCACACCCAGCTAATTTTTTTATTTTTAGTAGA GATGTGGTTTTGCCATGTTGGCCAGGGTTGTCTCGGACTCCTGACCTCAG GTGATCTACCCGCCTTGACCTCCCAAAGTGCTAGGATTATAGGTATGAGC CACTGTACCCAGCCAGTGAAAGTAGAAATTATTTATTTATTTAACTATTC CTTGAAAAGAGGAAACAAAATGTTCCCTCTTTAGCCTGAATGATTAACTT TACTCATAAGAGGTTCACAGTAAGACATGTGATTTTTTTTTTTTTTTTTT TTTACTCCTTTGCCCTTGTATGTGACAGATGCTCATTTGTTTGTTGATTA ACACCTTTTACACAGCCAACATTAATATCTAGTTATAGCCTTTTTTTTTT TTTTTTTAAACGGAGTCTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02647.hp1 others(5): Show HG02258.hp1 HG02280.hp1 HG02647.hp1 HG02717.hp1 HG02896.hp2 HG03041.hp1 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0037 a0001c0002t0007 a0001c0002t0037	a0001c0002t0007g0098 a0001c0002t0007g0182 a0001c0002t0007g0183 others(5): Show a0001c0002t0007g0098 a0001c0002t0007g0182 a0001c0002t0007g0183 a0001c0002t0007g0184 a0001c0002t0007g0186 a0001c0002t0007g0187 a0001c0002t0007g0188 a0001c0002t0037g0181	8	290	0.0276	-518	c.208 others(21): Show c.2080-29735_2080-29218del	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(511): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01943.hp2 HG02040.hp1 others(6): Show HG01258.hp2 HG01943.hp2 HG02040.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA19000.hp2	a0002 a0003 a0013 a0002 a0003 a0013	a0002c0001 a0002c0004 a0003c0006 others(1): Show a0002c0001 a0002c0004 a0003c0006 a0013c0037	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(3): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0004t0001 a0003c0006t0002 a0013c0037t0014	a0002c0001t0001g0235 a0002c0001t0002g0060 a0002c0001t0002g0184 others(6): Show a0002c0001t0001g0235 a0002c0001t0002g0060 a0002c0001t0002g0184 a0002c0001t0003g0054 a0002c0004t0001g0016 a0002c0004t0001g0017 a0003c0006t0002g0142 a0003c0006t0002g0145 a0013c0037t0014g0047	9	139	0.0647	-518	c.226 others(19): Show c.2268-3923_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAH17_chr17_78418697_78582396	78540766	GGATGGGT others(511): Show GGATGGGTGGGTGGGGTGGGTGGATGGGTGGGTGGGGTGGGTGGATGAGT GGACAGATGAATGGGGTGGGTAGATGTGTAAGTAGGTGGATGGGTGGGTG GATGGGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGGTGGGTGGG TGGATGGGTGGGTGGGTGGGTGGGTGGGTGGATCGGTGGATGAGTGGATG GGTGGATGGGTGGGTGGCGTGGGTGGGTGAGCGGATGGGTGGGTGAGCAG ATGGGTGGGTGGCGTGGGTGGGTGAGCGGATGGGTGGGTGGCGTGGGTGG GTGAGCGGATGGGTGGGTGAGCGGATGGGTGGGTGAGCGGGGTGGGGGGG TGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGG ATGAGCAGATGGGTGGGTGAGCGGGGTGGGGGGGTGAGCGGATGGGTGGG TGGGGGGGTGAGCGGATGGGTGGGTGGGGGGGTGAGCAGATGGGTGGGGG GGTGGGGGGTAAGCAAGCA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03225.hp2 HG01123.hp2 HG03225.hp2	a0042 a0100 a0042 a0100	a0042c0202 a0100c0222 a0042c0202 a0100c0222	a0042c0202t0002 a0100c0222t0001 a0042c0202t0002 a0100c0222t0001	a0042c0202t0002g0119 a0100c0222t0001g0128 a0042c0202t0002g0119 a0100c0222t0001g0128	2	250	0.0080	-518	c.253 others(18): Show c.2533-1404_2533-887del	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
GRIN1_chr9_137134154_137173756	137144731	TGTGGGGA others(511): Show TGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCC CCAGGGTGGTAGGGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTA GAAAGTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCC CAGAGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAG GGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGTGA GAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACA GGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGT GGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCA GAGGGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGT GTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCC AGAAAGTGTCCCCAGAGGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	264	0.0038	-518	c.394 others(15): Show c.394-941_394-424del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAKMIP3_chr10_132060946_132189858	132160925	TCTCTTCC others(511): Show TCTCTTCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGGTG GGCCTCTCCCTGTGTGATGCTGGGGGGGGCCTCTCACTGTGTGATGCTGG GGGGGCCTCTTCCTGTGTGATGCTGGGGGCGTGTCTTTCTGTGTGATGCT GGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGTGTCTT ATTGAGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGA TGCTGGGGGGTCTCTTCCTGTGTGATGCTGGGGGACCTCTCCCTGTGTGA TGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGT GATGCTGGGGTGGTCTCTCCCTGTGTGATGCTGGGGTGGTCTCTCCCTGT GTGATGTTGGGGGGGCGGTCTCCCTGTGTGATGCTGGGGGGGCCTCTTCC TGTGTGATGCTGGGGGGGGTCTATTCCTGTGTCTTACTGGGGGGGGCCTC TCCCTGTGTGATGCTGGGG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0022 a0001c0042t0022	a0001c0042t0022g0127 a0001c0042t0022g0127	1	137	0.0073	-518	c.222 others(19): Show c.2221-2283_2221-1766del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
RASA3_chr13_113972783_114137623	114005853	CCTCCTGC others(511): Show CCTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCCCCTCCTGCCCTG CCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGATGCCACC TTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCC TCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCC GGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTAC CCTTCTCCCCACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCTC CTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGAC GCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCC TTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGC CCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACGC CACCTTACCCTTCTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0009 a0002c0004t0004 a0002c0004t0009	a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0011 a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0011	3	64	0.0469	-518	c.174 others(19): Show c.1742+1162_1742+1679del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RCOR1_chr14_102587649_102735561	102676516	CACCTCCC others(511): Show CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCAGGTGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CCGGCCGGGCGGGGGGCTG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18522.hp1 NA20129.hp1 HG03471.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0038 a0001c0001t0012 a0001c0001t0038	a0001c0001t0012g0152 a0001c0001t0012g0153 a0001c0001t0038g0155 a0001c0001t0012g0152 a0001c0001t0012g0153 a0001c0001t0038g0155	3	290	0.0103	-518	c.362 others(17): Show c.362-5375_362-4858del	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SKI_chr1_2223319_2315213	2281065	CGATCTTC others(511): Show CGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTT CAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGA CGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGA GAGGACAGGCGGTGGCGGA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	143	0.0070	-518	c.970 others(19): Show c.970-21899_970-21382del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC7A1_chr13_29504414_29600688	29558640	AGAATGTG others(511): Show AGAATGTGAGTGAGCGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAG AATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTG AGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGT GAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGT GAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGA GAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAG GGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGA ATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGA GGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAGGGGGAGT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18953.hp1 NA18946.hp2 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0158 a0001c0002t0004g0159	2	292	0.0068	-518	c.-11 others(19): Show c.-114-5298_-114-4781del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SNTG2_chr2_945849_1372613	1012995	TGGGCAGA others(511): Show TGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAG AGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATG GGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGG GTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAG GGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGG CAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGT GGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGG ATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCA GAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGG TCTGTAGAGGGATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	185	0.0054	-518	c.72+ others(17): Show c.72+61987_72+62504del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013203	TAGAGGGA others(511): Show TAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTAT AAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGA AGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGA GAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAT GGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGA GGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGG GCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGG TGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAG GATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGC AGAGAGAAGGGTGGTCTGG	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02148.hp1 HG03831.hp1 others(1): Show HG01517.hp1 HG02148.hp1 HG03831.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0008 a0001c0001 a0002c0003 a0003c0008	a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 a0001c0001t0001 a0002c0003t0001 a0003c0008t0001	a0001c0001t0001g0038 a0001c0001t0001g0178 a0002c0003t0001g0154 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0178 a0002c0003t0001g0154 a0003c0008t0001g0190	4	184	0.0217	-518	c.72+ others(17): Show c.72+62149_72+62666del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013772	AGGGCAGA others(511): Show AGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAG AGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATG GGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGG GTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAG GGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGG CAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGT GGTCTGGAGAAGGATCTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGG ATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGCA GAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGG TCTGGAGAAGGATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	178	0.0056	-518	c.72+ others(17): Show c.72+62727_72+63244del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107841	CACGTGCT others(511): Show CACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTG GACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAG TGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAT AGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTA AGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGG TAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTT GGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGC TTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCT CCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTCCTTGGTAAGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG04184.hp2 HG03490.hp2 HG04184.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0014 a0001c0002 a0004c0014	a0001c0002t0001 a0004c0014t0001 a0001c0002t0001 a0004c0014t0001	a0001c0002t0001g0145 a0004c0014t0001g0054 a0001c0002t0001g0145 a0004c0014t0001g0054	2	187	0.0107	-518	c.325 others(17): Show c.325+9434_325+9951del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TFPI_chr2_187459230_187559435	187556763	GGAGGTGG others(511): Show GGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGCAG CCACCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCGGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCTGCCTGGCAAGCCGCCCCGTCTGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGTGAGGGGTG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCATCCGGGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	342	0.0029	-518	c.-30 others(11): Show c.-3084_-2567del	TFPI	ENSG00000003436.16	transcript	ENST00000233156.9	protein_coding		2329		chr2	TogoVar
USP40_chr2_233470526_233571782	233567482	CTATATAA others(511): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAA GATTATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAA CCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03130.hp2 HG03453.hp1 HG02965.hp2 HG03130.hp2 HG03453.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0009 a0002c0008t0009	a0002c0008t0009g0116 a0002c0008t0009g0117 a0002c0008t0009g0120 a0002c0008t0009g0116 a0002c0008t0009g0117 a0002c0008t0009g0120	3	314	0.0096	-518	c.-13 others(10): Show c.-1336_-819del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		701		chr2	TogoVar
ATP11A_chr13_112685038_112892168	112766866	AGGGTGTG others(510): Show AGGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGAGATGTGGGG GTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAG CCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTGTTGGGGGCCACTGTGGG AAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGA GATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAG TGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATCGGGGGC CCCTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGA AGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGA TGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCG TTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCC CTGTGGGAAGGTGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19007.hp1 NA18971.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0002t0012g0191 a0001c0002t0012g0252	2	241	0.0083	-517	c.40- others(17): Show c.40-18267_40-17751del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83022378	GCCCACCT others(510): Show GCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCC CACCTGCACCAGCGTGAACTCACATTAGCTTAGCACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCAC CAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGT GAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAA CTCACATGAGCTTAGGACTGTCCCCGGCCCACCTGCACCAGCGTGAACTC ACATGAGCTTAGGACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACA TGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTA GCTTAGCACTGTCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 NA18964.hp1 others(3): Show HG00597.hp1 HG00609.hp1 NA18964.hp1 NA19002.hp1 NA19081.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0002c0022 a0001c0004 a0001c0006 a0002c0022	a0001c0004t0001 a0001c0006t0008 a0001c0006t0023 others(1): Show a0001c0004t0001 a0001c0006t0008 a0001c0006t0023 a0002c0022t0003	a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 others(3): Show a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0006t0008g0021 a0001c0006t0023g0031 a0002c0022t0003g0030	6	264	0.0227	-517	c.298 others(17): Show c.298-8376_298-7860del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1431346	GTCTGGTC others(510): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0142 a0002c0002t0053g0142	1	358	0.0028	-517	c.92- others(15): Show c.92-4693_92-4177del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
CCDC77_chr12_396644_447642	419407	ACATGTTC others(510): Show ACATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCA TGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATG TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT ACACATAGCAGCACACTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0399 a0001c0001t0004g0399	1	429	0.0023	-517	c.413 others(16): Show c.413+790_413+1306del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	419682	AATACACA others(510): Show AATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA TACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATA CACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0416 a0005c0005t0005g0416	1	430	0.0023	-517	c.413 others(17): Show c.413+1048_413+1564del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
ENPP2_chr8_119552086_119643839	119633438	TGTGGTTA others(510): Show TGTGGTTATACCAGCTCCTTTTCTCAAGAGCGTTAAAACAGGACAAGTTC CCTTATGTCTGCTGCCCTGTTTGAAGCATAACCCACAGGGCAAGGCAGAG GACAGTGTGCGTGGCATTCAAGATGCTGCCCAGCTCTAGAGTTAATACTG TATTATGCCTCTTCTGGAGTATATGGTTCGTTCTTTCTGGTCATACTTTT TTCGTATTGAATTTGCCATTTTTTATTGATGCTTCTGACCTCATTTTTTA GTAAATAGAACTTACACACAGGTCTACATGTCAGTATCTTTGCTTCCTAA ATACATAACTTTTTATAAATATCCATTACTGCAACATCACTGTTCTCTCC TCTTCACAGCTGCTAGGCCAGATTTCATAAACTTTTTTTTTTTTAATAAA GAGGTCCACCTGGGAAGTTTTTAAACACCTGTGCTTTCAAAACATTTATA AACACAATGGTCTGACCTGCCTCGGTGACTCATGCCTGTAATCCTAGCAA TTTGGGAGGCTGAGGCGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02572.hp2 HG02109.hp1 HG02559.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0002 a0001c0004t0003	a0001c0004t0002g0035 a0001c0004t0003g0034 a0001c0004t0003g0036 a0001c0004t0002g0035 a0001c0004t0003g0034 a0001c0004t0003g0036	3	338	0.0089	-517	c.136 others(17): Show c.136+4470_136+4986del	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	2/24			chr8	TogoVar
ERC1_chr12_986223_1500931	1085964	GTTGTTGT others(510): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0130 a0001c0001t0060g0130	1	119	0.0084	-517	c.108 others(19): Show c.1086+2394_1086+2910del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087920	GTTGTTGT others(510): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTGTTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02258.hp2 HG02895.hp1 others(3): Show HG01496.hp1 HG02258.hp2 HG02895.hp1 HG02976.hp1 HG03209.hp2 HG06807.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0011 a0001c0001 a0002c0002 a0008c0011	a0001c0001t0051 a0002c0002t0017 a0002c0002t0022 others(3): Show a0001c0001t0051 a0002c0002t0017 a0002c0002t0022 a0002c0002t0062 a0002c0002t0078 a0008c0011t0007	a0001c0001t0051g0079 a0002c0002t0017g0077 a0002c0002t0022g0139 others(3): Show a0001c0001t0051g0079 a0002c0002t0017g0077 a0002c0002t0022g0139 a0002c0002t0062g0142 a0002c0002t0078g0154 a0008c0011t0007g0068	6	159	0.0377	-517	c.108 others(19): Show c.1086+4350_1086+4866del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089678	GTTGTTGT others(510): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0020 a0002c0007t0020	a0002c0007t0020g0071 a0002c0007t0020g0071	1	160	0.0063	-517	c.108 others(19): Show c.1086+6108_1086+6624del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089808	GTTGTTGT others(510): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCGTTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0092 a0001c0001t0049g0092	1	128	0.0078	-517	c.108 others(19): Show c.1086+6238_1086+6754del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	675616	GGCCCCTC others(510): Show GGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAG AGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGC GCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACA GAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCG TGAGGACAGAGACGCGGC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	376	0.0027	-517	c.305 others(17): Show c.305-2086_305-1570del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241805712	TCCCCCCT others(510): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	292	0.0034	-517	c.15 others(11): Show c.1547_*2063del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1426		chr2	TogoVar
HPD_chr12_121834527_121863859	121844957	ACCTGTAA others(510): Show ACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAAC CCAGGAGGTGGAGGTTGCAGTGAGCCAAAATCGCACCACTGCACTCCAGC CTAGAAGACAGAGCAAGACTGCATCTCAAAAAAGAAGGATATATATATAT ATACACACACATATATATATTTGAGAGACAGGGTCTTTGTTCTGTCACCC AGGCTGCAGTGCAGTGGCATGATCTTAGCTCACTGCAGCCTCAACCTCCC CAGGCTCAGCTGATCCTCCTACTTCAGACTTCTGGGTAACTAGAACCACA GGTGTGCACCACCACACCTGGCTAATTTTTTGATTTTTTTGTAAAGATGA GGTCTTATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGG GAGGCCAAGGTGGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGC TAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAACATTAGC TGGGCGTGGTGGCGGGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02109.hp1 others(19): Show HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02897.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(14): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0264 a0003c0003t0001g0006 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0137	22	404	0.0545	-517	c.831 others(17): Show c.831+1388_832-1126del	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding	11/13			chr12	TogoVar
LMBR1_chr7_156672791_156898183	156841920	GAGAAAAA others(510): Show GAGAAAAATTATTGATGCAAGAGAAAAAAGAAGCAATTGCTGAAGTTATG TGCTCAAGTTGTGGGAGTGATATAAAATGTATCCATAAATAAAAAGGAGG AGAACAAGGAGGAGACAGAATATTTCAGTTCAGTTGCAGGTAGTTACGTG TGGTGAAAGCAGAAAGACATGACTACATTTTTTGATGGCATCTATTTCCT CAGTGCAACAGAAGCAAGTTCATCAAATCAGATACATACGGAGAGTGAGG GAAGAAGTGCTGCAGGGTAATAAGGAATCAGAGAGACCGATGGGGTTGAG GAGTAATTATTTAATTATTTAGGTGCCCCAACCCAGTCAGATTAACATCT AAAGGACTGAGGCCCGAACAAAGAGTCAAGCTACCTTTTAAGCATTTTGT GGGGCGGGGGGAGATTTGTACAGGGGGAAGCGTATTATAGAAGTGAGAAA CAAAGACAGTTATTTAATTAAGATGTGCGTTATATTATTTTTTACTTTTT AAGGAATAACACGTTTTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp1 HG01106.hp2 others(10): Show HG00423.hp2 HG01081.hp1 HG01106.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01981.hp1 HG02056.hp2 HG02735.hp1 HG03704.hp1 NA18993.hp2 NA19054.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0033 others(4): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0033 a0001c0001t0039 a0001c0001t0093 a0001c0001t0094 a0001c0001t0129	a0001c0001t0008g0010 a0001c0001t0008g0017 a0001c0001t0013g0016 others(10): Show a0001c0001t0008g0010 a0001c0001t0008g0017 a0001c0001t0013g0016 a0001c0001t0013g0018 a0001c0001t0013g0019 a0001c0001t0013g0020 a0001c0001t0033g0015 a0001c0001t0033g0022 a0001c0001t0039g0013 a0001c0001t0039g0021 a0001c0001t0093g0014 a0001c0001t0094g0012 a0001c0001t0129g0011	13	312	0.0417	-517	c.67- others(15): Show c.67-5552_67-5036del	LMBR1	ENSG00000105983.23	transcript	ENST00000353442.10	protein_coding	1/16			chr7	TogoVar
NEU4_chr2_241804193_241822413	241805712	TCCCCCCT others(510): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0024 a0001c0005t0001g0024	1	298	0.0034	-517	c.-35 others(11): Show c.-3565_-3049del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3480		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79417171	GGGAGATG others(510): Show GGGAGATGGGCTGTGGTGGGAGATGGGAGATGGGCTGTGGTGGGAGATGG GAGATGGGCTGTGGTGGGAGATGGGCTGTGGTGGGAGATGGGAGATGGGC TGTGGTGGGAGATGGGCTGTGGTGGGAGATGGGAGATGGGCTGTGGTGGG AGATGGGAGATCGGCTGTGGTGGGAGATGGGAGATGGGCTGGGCAGGAGA TGGGCTGTGGTGGGAGATGGGAGATGGGCTGTGGTGGGAGATGGGCTGTG GTGGGAGATGGGAGATGGGCTGTGGTGGGAGATGGGAGATGGGCTGTGGT GGGAGATGGGAGATCGGCTGTGGTGGGAGATGGGAGATGGGCTGGGCAGG AGATGGGCTGTGGTGGGAGATGGGAGATGGGCTGTGGTGGGAGATGGGCT GTGGTGGGAGATGGGAGATGGGCTGTGGTGGGAGATGGGCTGTGGTGGGA GATGGGAGATGGGCTGTGGTGGGAGATGGGAGATCGGCTGTGGTGGGAGA TGGGAGATGGGCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0049 a0001c0006t0049	a0001c0006t0049g0049 a0001c0006t0049g0049	1	320	0.0031	-517	c.122 others(19): Show c.1226+5915_1226+6431del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
OTUD7A_chr15_31470398_31875673	31511020	TGTATATC others(510): Show TGTATATCTATATGTAACATACATGTATATCTATATGTAACATACATATA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACACACATATGTATATCTATATGTAACACACA TACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATATATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACACAC ACATATATGTATATCTATATGTAACACACACATATATGTATATCTATATG TAACACACACATATATGTATATCTATATGTAACACACACATATATGTATA TCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0190 a0001c0002t0020g0190	1	236	0.0042	-517	c.894 others(17): Show c.894-7719_894-7203del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RCOR1_chr14_102587649_102735561	102676518	CCTCCCTC others(510): Show CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCC GGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19043.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0012 a0001c0004t0012 a0001c0001t0012 a0001c0004t0012	a0001c0001t0012g0154 a0001c0004t0012g0151 a0001c0001t0012g0154 a0001c0004t0012g0151	2	290	0.0069	-517	c.362 others(17): Show c.362-5375_362-4859del	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
TEKT5_chr16_10622501_10699930	10677215	ATGAAAGA others(510): Show ATGAAAGAGACAAATGGAGTGGTGTCATTATGTGTTGGTCAGGGTTGTAA ACGGGAATAGATGGAATACTCGGAAGGGTGTTGAGATCGTCTGGGATTAG AAAATGTATGAAGTGCTGAATGTGATGGCTCATGGCTGTAATCCCAGCAC TTTGGGAGCCCGAGGCGGGCGGATCACTTGAGGCCAGGAATTTGAGACCA GCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATATAAAAATTAG CCGGGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCGGAAGGCTGAGG CAGGAGAATCACTTGAACTGGGAGTCAGAGATTGCAGCGAGCCGAGATCA CGCTACTGCACTCCAGCCTGGGCAACAGAGTAAGACCCTGTCCCCCCCAA CAAAAAAATAAAAAGAAAATGCATGAAGCTGTCACTATCCCAGCTGTAAA GGGCAAGAGAAAAGGAAGCAATAGGTGTTATAAAAGCCCCAGAAAAGGAG GAACCATGGTTGACCAGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp1 others(86): Show HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG01169.hp2 HG01261.hp2 HG01496.hp2 HG01891.hp1 HG01943.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA19003.hp2 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19078.hp2 NA19082.hp1 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp2 NA20905.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0003c0004 a0010c0016	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0003c0004t0001 a0010c0016t0001	a0001c0001t0001g0096 a0001c0003t0001g0003 a0001c0003t0001g0147 others(85): Show a0001c0001t0001g0096 a0001c0003t0001g0003 a0001c0003t0001g0147 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0200 a0001c0003t0001g0214 a0001c0003t0001g0269 a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0020 a0001c0005t0001g0028 a0001c0006t0001g0196 a0001c0006t0001g0197 a0001c0006t0001g0220 a0001c0006t0001g0221 a0001c0006t0001g0222 a0001c0006t0001g0223 a0003c0004t0001g0318 a0003c0004t0001g0319 a0003c0004t0001g0320 a0003c0004t0001g0321 a0003c0004t0001g0322 a0003c0004t0001g0323 a0003c0004t0001g0324 a0003c0004t0001g0325 a0003c0004t0001g0326 a0003c0004t0001g0327 a0003c0004t0001g0328 a0003c0004t0001g0329 a0003c0004t0001g0330 a0003c0004t0001g0331 a0003c0004t0001g0332 a0003c0004t0001g0333 a0003c0004t0001g0334 a0003c0004t0001g0335 a0003c0004t0001g0336 a0003c0004t0001g0337 a0003c0004t0001g0338 a0003c0004t0001g0339 a0003c0004t0001g0340 a0003c0004t0001g0341 a0003c0004t0001g0342 a0003c0004t0001g0343 a0003c0004t0001g0344 a0003c0004t0001g0345 a0003c0004t0001g0346 a0003c0004t0001g0347 a0003c0004t0001g0348 a0003c0004t0001g0350 a0003c0004t0001g0351 a0003c0004t0001g0352 a0003c0004t0001g0353 a0003c0004t0001g0354 a0003c0004t0001g0355 a0003c0004t0001g0356 a0003c0004t0001g0357 a0003c0004t0001g0358 a0003c0004t0001g0359 a0003c0004t0001g0360 a0003c0004t0001g0361 a0003c0004t0001g0362 a0003c0004t0001g0363 a0003c0004t0001g0364 a0003c0004t0001g0365 a0003c0004t0001g0366 a0003c0004t0001g0367 a0003c0004t0001g0368 a0003c0004t0001g0369 a0010c0016t0001g0148	89	386	0.2306	-517	c.864 others(17): Show c.864-1551_864-1035del	TEKT5	ENSG00000153060.8	transcript	ENST00000283025.7	protein_coding	4/6			chr16	TogoVar
USH2A_chr1_215617891_216428448	216058135	GTCCATAA others(510): Show GTCCATAAGGATGACACAGCAAAAAGATGAAGTGTGTGGGTCTCGCCTAT GAACATCCCGCCTCTGCATTGACTTACTGTGGACACCTATTACCAGTGAG AGAAAAACTTCATCGCTATTATTTTAGGTTCTCAGTATCTCAAGTGAAAT AATGAATTAAAAATGATAAACCCATCTCTGTTAGGTTTTCCCTATAAAAC TTTCATTGTCTACATAATCTTATACTTCAGAGAGAGTGCTTGGGCTATAT TTTAGTGTTATAAAAATCATGTTACAATGATAGGGCCTAGCACTAGCATG GAACGTGGTAGATCACTTTTTTAAATAAATGAATATTTTCTGTTCTTTAT AATTATCAGCATTGCAGCAGTATTGGCTTCCATTATTTTTCATTTCAAAT ATGTAGTGGTTGGGTTCTATTCTGAGGTCTAAGTTTTGGAATTAGTCTTT ATTAGTTATTTATTAGTCTTACCCTACCAACATATTTTTTTTCTATTGGG AAATGTGTATTAAGTTCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02257.hp2 others(9): Show HG01109.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp2 HG06807.hp1 NA19043.hp1 NA20129.hp2	a0011 a0019 a0020 others(9): Show a0011 a0019 a0020 a0022 a0023 a0043 a0045 a0053 a0055 a0058 a0062 a0067	a0011c0059 a0019c0058 a0020c0004 others(9): Show a0011c0059 a0019c0058 a0020c0004 a0022c0057 a0023c0020 a0043c0039 a0045c0002 a0053c0028 a0055c0047 a0058c0060 a0062c0042 a0067c0024	a0011c0059t0001 a0019c0058t0001 a0020c0004t0011 others(9): Show a0011c0059t0001 a0019c0058t0001 a0020c0004t0011 a0022c0057t0001 a0023c0020t0006 a0043c0039t0002 a0045c0002t0002 a0053c0028t0003 a0055c0047t0003 a0058c0060t0001 a0062c0042t0001 a0067c0024t0005	a0011c0059t0001g0069 a0019c0058t0001g0068 a0020c0004t0011g0020 others(9): Show a0011c0059t0001g0069 a0019c0058t0001g0068 a0020c0004t0011g0020 a0022c0057t0001g0064 a0023c0020t0006g0004 a0043c0039t0002g0030 a0045c0002t0002g0019 a0053c0028t0003g0041 a0055c0047t0003g0017 a0058c0060t0001g0067 a0062c0042t0001g0031 a0067c0024t0005g0040	12	72	0.1667	-517	c.605 others(20): Show c.6050-10005_6050-9489del	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	30/71			chr1	TogoVar
AP3D1_chr19_2095988_2156566	2128514	AGCTCCGA others(509): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCT CCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGC ACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18980.hp1 NA18989.hp1 others(1): Show HG02258.hp1 NA18980.hp1 NA18989.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0009 a0001c0003 a0002c0009	a0001c0003t0002 a0002c0009t0002 a0001c0003t0002 a0002c0009t0002	a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0044 others(1): Show a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0044 a0002c0009t0002g0266	4	311	0.0129	-516	c.806 others(14): Show c.806+60_806+575del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
C7orf50_chr7_992006_1143247	1128629	GGCTCATC others(509): Show GGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATC CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGC ACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCA TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGT GCAGTGGCGCGATCTCA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18986.hp1 NA19007.hp2 NA18971.hp1 NA18986.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0027g0193 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0027g0193	3	323	0.0093	-516	c.-1- others(15): Show c.-1-1759_-1-1244del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128729	CCACCCTG others(509): Show CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGC ACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCA TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGT GCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCGGGCTGGAGTGCAG TGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGC GCCATCTCGGCTCATCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0005 a0009c0006t0005	a0009c0006t0005g0296 a0009c0006t0005g0296	1	314	0.0032	-516	c.-1- others(15): Show c.-1-1859_-1-1344del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNG7_chr19_53904278_53948950	53922141	GAGTTGTC others(509): Show GAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATT GGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGT CATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGT CTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCC CAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGT TGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGT GGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATT GGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTC ATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGACT GGTCATTGGTGCAGTTGTCCCAGGCCTGGTCATTGGTGCAGTTGTCCCCA GGCCTGGTCATTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	364	0.0027	-516	c.424 others(17): Show c.424+6646_424+7161del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
FOXN3_chr14_89151177_89422233	89360856	CCACCACC others(509): Show CCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCC ACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCACCACCAC CACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCA CCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGC ACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCAC CACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCACCT CCAGCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACC ACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCA CCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACC TCCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0033 a0001c0001t0011g0033	1	198	0.0051	-516	c.544 others(19): Show c.544-10564_544-10049del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361852	ACTACCTC others(509): Show ACTACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCAC CACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACTACCA CCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACC ACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAC CACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACTACCACCT CCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACC TCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTAC CACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCA GCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCACC ACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCAC CACCTCCTCCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0018 a0001c0001t0056g0018	1	228	0.0044	-516	c.544 others(19): Show c.544-11560_544-11045del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805486	TCCCCCCT others(509): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAA GGGACCTAGGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG02155.hp2 HG01069.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0185 a0001c0001t0001g0001 a0001c0001t0001g0185	2	268	0.0075	-516	c.13 others(11): Show c.1321_*1836del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1200		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805524	CTCCCCCC others(509): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCC CCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	-516	c.13 others(11): Show c.1359_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1238		chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834421	TTGGACTC others(509): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTC CTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	355	0.0028	-516	c.128 others(14): Show c.128-579_128-64del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834558	GGCTGGGA others(509): Show GGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCC GAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGG CTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAG GTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTG GGTCTGAGGGAGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	390	0.0026	-516	c.128 others(15): Show c.128-716_128-201del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
LMLN_chr3_197955217_198048720	198004457	CCATCTAT others(509): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19090.hp2 NA18951.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0244 a0001c0001t0004g0240 a0001c0001t0004g0244	2	224	0.0089	-516	c.131 others(19): Show c.1319+1444_1319+1959del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAPK8IP3_chr16_1701195_1775351	1737938	CCGTGTGA others(509): Show CCGTGTGACTGTCCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTCCGTGT GACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCCGTGTGA GCGTGTGACCGTCCGTGTGAGTGTGTGACCATCCGTGTGAGAGTGTGACC ATCCATGTGAGCATCCATGTGACCGTCCGTGTGAGCGTGACTGTCCGTGT GTGTGACCATCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGT GAGCGTGTGACCGTCCGTGTGTGTGACCATCCGTGTGAGAGTGTGACCAT CCATTTGAGCATCCGTGTGAGCGTGTGACCGTCCGTGTGAGTGTGACCAT CCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCATCCGTGAGCGTGTGA CCGTCCGTGTGTGTGACCATCCGTGTGAGTGTGACCATCCATGTGAGCAT CCGTGTGACCGTGTGAGCGTCCGTGTGAGCGTGTGACCGTGTGAGAGAGT GACCATCCATGTGAGCA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0271 a0001c0003t0009g0271	1	328	0.0030	-516	c.603 others(17): Show c.603-5393_603-4878del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31			chr16	TogoVar
MS4A6E_chr11_60322255_60346341	60329929	GATTCTCC others(509): Show GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCATACCA GCACACCTGACTAATTTGTTGTATTTTTAGTAGAGATGGGGTTTCACCGT GTTAGCCAGGCTGGTTTTGATCTCCTGACCTCATGATCCATCCGTCTTGG CCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCT TCACCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAGTTTGTTTA AGTTCCTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGGATAGATTGC AAAAATTTTCTCCCATTCTGTAGGTCGCCTGTTCACTCTGATGATAGTTT CTTTTGCTGTGTAGAAGCTCTTTTGTTTAATTAGATCCCATTTGTTAATT TTGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTAGGCGGAGTCTCACTCTT TTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACACC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(25): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG01496.hp2 HG02015.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02723.hp2 HG02896.hp2 HG02970.hp2 HG03209.hp2 HG06807.hp1 NA18957.hp2 NA18969.hp2 NA18972.hp2 NA18977.hp1 NA19009.hp2 NA19011.hp1 NA19075.hp2 NA19077.hp2 NA19080.hp1 NA19083.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0011 a0001c0003t0002 a0001c0003t0006 a0001c0003t0011	a0001c0003t0002g0027 a0001c0003t0002g0064 a0001c0003t0002g0065 others(16): Show a0001c0003t0002g0027 a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0206 a0001c0003t0002g0207 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0006g0015 a0001c0003t0006g0203 a0001c0003t0006g0250 a0001c0003t0011g0202 a0001c0003t0011g0208	28	448	0.0625	-516	c.-15 others(17): Show c.-15+2542_-15+3057del	MS4A6E	ENSG00000166926.9	transcript	ENST00000684409.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
NEU4_chr2_241804193_241822413	241805524	CTCCCCCC others(509): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCC CCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	316	0.0032	-516	c.-37 others(11): Show c.-3753_-3238del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3668		chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31511168	CATATGTA others(509): Show CATATGTATATCTATATGTAACACACATATGTATATCTATATGTAACACA CATACATATGTATATCTATATGTAACACACATACATATGTATATCTATAT GTAACACACATACATATGTATATCTATATGTAACACACATATATATGTAT ATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATAT ATATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACAC ACACATATATGTATATCTATATGTAACACACACATATATGTATATCTATA TGTAACACACACATATATGTATATCTATATGTAACACACACATATATGTA TATCTATATGTAACACACACATATATGTATATCTATATGTAACACACACA TATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAA CACACACATATATGTATATCTATATGTAACACACACATATATGTATATCT ATATGTAACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	234	0.0043	-516	c.894 others(17): Show c.894-7866_894-7351del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar

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