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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TXNDC9_chr2_99313982_99341333	99314532	TTTTTTTT others(523): Show TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGA GTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAT GCAACTCTCCCATCTCAGCCTCCTGAGTAGCTGGTACTACAGGCGCATGC CACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCA TGTTGTCTGCCTTTTTTATTATAATCATCCTGGCTGGTGCAAAGTGGGAT GTCATTGTGGTTTGGATTTACATTTCCCTGACAGTTAATGATTTGAGCAT CTTTTCATGTACTTACTGCCCAACTGTCCATTTCTTTTGGGAAGACGTAC AGATCCTTTACTCATTTTTTTTTTTTTTTTTTGAGACGGACTCTCACTCT GTCGCCCAGGCTGCAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCC ACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCACCACCACGCCTGGTTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	368	0.0027	-530	c.46 others(11): Show c.4620_*5149del		TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding					4449		chr2	TogoVar
WDR70_chr5_37374318_37758435	37563080	ACCCCCCC others(523): Show ACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCTCCCGGCCTCCCTCCCGGATGGGGGGGCTGGCTGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACTTTCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGGCCCCCCACCTCCCTCCTGGACGG GGCGGCTGGCCGTGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCAGGATTGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACATCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCC GGACGGGCGGCTGGCCGGGCGGGGGGATGAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02293.hp2 HG03704.hp1 others(1): Show HG01074.hp1 HG02293.hp2 HG03704.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0001g0175 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0004g0005	4	201	0.0199	-530	c.918 others(19): Show c.918-41976_918-41447del		WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP83_chr12_94302698_94464867	94443329	ATCCACAA others(522): Show ATCCACAAATCACAGAGTCAAACCTGAAACCCTACAGTCTGCAAAATCAC AAAACTATTTTCGGAGTTTTAGTTGCTCTAAAAGTGAACAGAAAGAGTAG CTTTTGTCCATGTGCTTTATAGGTTCCTGCCTTCCTTGTGCTTGCCCCAG GATATTTATTCTATATAAACATATATTTTTTTGAGACAGAACCTCACCCT GTCACCCAGGCTAGAGTACAATGGCGCAATCTCAGCTCACTGCAACCTCC GTCCCGCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGG ATTACAGGCATGCACCACGCCCGGCTATTTTTTGTATTTTTAGAGATAGG GTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACTTCAAGTGATC CACCCACCTTGGCCTCGCAAAGTGCTGGGATTACAGGCATGAGCCACTGT GCCCGGCCTAATTTATTCTATATTCTATAATGTCTGCACTTTTCCCCTCC AGATGCTTTATAACTATATAAACTACGTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	362	0.0028	-529	c.-15 others(19): Show c.-154-8531_-154-8003del		CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	1/16						chr12	TogoVar
DCC_chr18_52335197_53540899	53085989	CTCCTTCT others(522): Show CTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTT CTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTT CTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTC TTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTC TTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TTCTTCTTCTTCCTTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0112 a0001c0002t0033g0112	1	99	0.0101	-529	c.126 others(21): Show c.1261+19825_1261+20353del		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DIRAS1_chr19_2709567_2726372	2713600	TCCCATCC others(522): Show TCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCAT TCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCC ACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTCCACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTC CTACACCCATCACCTCCTCCACCCTTCACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	380	0.0026	-529	c.30 others(11): Show c.3081_*3609del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					966		chr19	TogoVar
EHMT1_chr9_137614005_137841127	137818595	GGCGCCAT others(522): Show GGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGA GGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGATTGA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG03834.hp1 HG01256.hp1 HG01258.hp2 HG03834.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0021 a0001c0001 a0009c0021	a0001c0001t0001 a0009c0021t0001 a0001c0001t0001 a0009c0021t0001	a0001c0001t0001g0105 a0001c0001t0001g0138 a0009c0021t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0138 a0009c0021t0001g0093	3	153	0.0196	-529	c.354 others(17): Show c.3540+459_3540+987del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
IDI1_chr10_1034419_1054119	1047041	CTGTCTAC others(522): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp2 others(19): Show HG00140.hp1 HG00323.hp2 HG00544.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01993.hp2 HG02109.hp2 HG02698.hp1 HG03688.hp2 NA18747.hp1 NA18954.hp1 NA18956.hp1 NA18982.hp2 NA18997.hp1 NA19003.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0005c0006t0001 a0001c0001t0001 a0001c0001t0002 a0005c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0002g0002 a0001c0001t0002g0066 a0005c0006t0001g0057	22	436	0.0505	-529	c.140 others(17): Show c.140+1294_140+1822del		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4						chr10	TogoVar
LDLRAD3_chr11_35939062_36237136	36144882	GCCCCGTC others(522): Show GCCCCGTCCGGGAGGTGAGGGGCGCCTCTACCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCCGGAAGGAGGTGG GGGGGTCAGCCCCCCGCCCTGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCC AGCTGCCCCATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGCCAGC CGCCCCGTCCGGGAGGGAAGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAG CTGCCCCATCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCACCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCAGCCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	234	0.0043	-529	c.454 others(19): Show c.454+46426_454+46954del		LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
NOS1AP_chr1_162064691_162375475	162260958	CCTCAAAG others(522): Show CCTCAAAGTTTCAAGCAATAATTATTTCATTAGAATTTGTTATATTCCCA AGGTGACTAATATAACAAATTAGAATTTGTTATATTCCCAAGATGACTAA TATAACAAATTAGAATTTGTTATACTCCCAAAGTGCCTTGAAAGTTAATA TTTATTTGGAGATATATATGTTCAGGTATACTTGGCAGAAACAACCAGTA AATCTCATTGGTCTGGCATCAGAGAATGAGGTTCTCCATATAAGTAAAAT TTCCAGGGAACTCAAGCTTTCCCCTCTAAGCATCAGTCCTATCTTTCAAA ATCAATAACATTTAATTACAATATTTTATAACCTTTCATGTCCCCTTGTT CTTAAACAATATCCTGATGTTACCTTCTATGGCAGCAGGGAGTTTGCAGA TTCTTAATGTGCAAACTTTTAAGAATCTTGAGATGGGAGATTACCCTGCA TTATCCAGGTGGGCTCAATCTAATCACAAGAGTCCTTATAGAAGAGAGGC AGCGGGGAGTCAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18986.hp2 HG02135.hp1 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0027 a0001c0002t0002 a0001c0002t0027	a0001c0002t0002g0031 a0001c0002t0027g0035 a0001c0002t0002g0031 a0001c0002t0027g0035	2	134	0.0149	-529	c.178 others(19): Show c.178-26385_178-25857del		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
OR1F1_chr16_3183204_3211556	3211027	CTCACGCC others(522): Show CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCTGGTGGATCACG ACGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTATCCAGGCATGGTGGTGGGCACCTGCAGTC CCAGTTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTG GAGGCTGCAGTGAGCCAAGATCACGCTGCTGCACTCCAGCCTGGATGACA GAGTGAGACTCTGTCTAAAAAAAATTAAAAAAAATAAAAAAAAAATAGAG TGTAATCTAACACCTAGAAAGAACAGTCTACAGGCCGGGCATGGTGGCTC ACGCCTGTAATCCCAGCCCTTGGGGAGGCTGAAGTAGGCGCCTGTAATCC CAGCCTTTGGGGAGGCCGAGGTAGGCGGATCACCTGAGGTCAGGAGTTCG AGACCAGACTGACCAACATGGTGAAACCGCATCTCTACTAAAAATACAAA AAAAAATCTGGGCGTGGTGGTGGGTTCTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02647.hp1 others(6): Show HG01243.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02895.hp1 HG02970.hp2 HG03098.hp1 HG06807.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0004c0004t0003 a0001c0001t0003 a0004c0004t0003	a0001c0001t0003g0240 a0004c0004t0003g0024 a0004c0004t0003g0183 others(5): Show a0001c0001t0003g0240 a0004c0004t0003g0024 a0004c0004t0003g0183 a0004c0004t0003g0227 a0004c0004t0003g0246 a0004c0004t0003g0255 a0004c0004t0003g0257 a0004c0004t0003g0258	9	326	0.0276	-529	c.58 others(11): Show c.5843_*6371del		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding					4472		chr16	TogoVar
OTUD7A_chr15_31470398_31875673	31511095	TATGTATA others(522): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACACATATATG TATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACA CATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01081.hp2 others(13): Show HG00423.hp2 HG00544.hp1 HG01081.hp2 HG02071.hp1 HG02080.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18966.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18998.hp2 NA19009.hp1 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0028 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0028 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0092 a0004c0013t0002	a0001c0001t0002g0058 a0001c0001t0002g0157 a0001c0001t0002g0167 others(13): Show a0001c0001t0002g0058 a0001c0001t0002g0157 a0001c0001t0002g0167 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0194 a0001c0001t0004g0181 a0001c0001t0004g0195 a0001c0001t0028g0163 a0001c0001t0028g0180 a0001c0001t0055g0172 a0001c0001t0058g0186 a0001c0001t0059g0169 a0001c0001t0092g0087 a0004c0013t0002g0233	16	208	0.0769	-529	c.894 others(17): Show c.894-7806_894-7278del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
SCUBE1_chr22_43192280_43348372	43280956	CTCTTTGG others(522): Show CTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCC CTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTC AGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTC AGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGC TATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCC TCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTC TGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGT CACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGT CACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCAC CTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCATCT CCCTCAGCCACCCTCCTGTCACCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	142	0.0070	-529	c.484 others(18): Show c.484+9561_484+10089del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SIGIRR_chr11_400716_419999	410947	GGGGGTGC others(522): Show GGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGTGC CCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TGCAGTCGGGCGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTC GGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGG GGGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGAGGGGTGCTCAG CTCTGACCATGTCTGGATACAGTCGGGGGGGGGGGGTGCCCAGCTCTGAC CATGTCTGGATACAGTCGGGGAGGGGTGCCCAGCTCTGACCATGTCTGGA TGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGG GGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGGGTGCCCA GCTCTGACCATGTCTGGATACAGTCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	240	0.0042	-529	c.-15 others(18): Show c.-153-1449_-153-921del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
TMPRSS2_chr21_41459305_41513158	41474776	GTGAGGGG others(522): Show GTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAAGG GGTGAGTGAGGGGGTGAGTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGAG GGGGTGGGTGAGGGGTGGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGA GTGAGGGGATGAGGGAGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGGT GGTGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGGTGAGGGGTAAGGAGGT GAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGGGTGAGGGGGTGAAGGGG TGAGTGAGGGGGTGAGTGAGGGGATGAGGGAGTAATTCAGAGGGTGAAGG GGTGAGTGAGGGAGTGAAGGCATGATTGAGGGGGTGAAGGGGTGAGTGAG GGGGTGACTGAGGGGTGAAGGTGTGAGTGAGGAGGTGAGTGAGGGGGTGA AGGCATGAGTGAGGGGGTGAATGGGTGAGAGAGGGGGTGAGTGAGGGGTG AAGGGATGAGTGAGGGGGTAAGTAAGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	375	0.0027	-529	c.727 others(17): Show c.727+1272_728-1281del		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
UIMC1_chr5_176900006_177011779	176961624	ATCCGGGA others(522): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCGG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGATCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGCGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	328	0.0030	-529	c.120 others(19): Show c.1201-3999_1201-3471del		UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	6/14						chr5	TogoVar
VCX3A_chrX_6528618_6540118	6532748	CCTTCCTT others(522): Show CCTTCCTTCTTTCCTTTCTCCCTCCCCACACACCTCCTCTTCCTCCCTCC CTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCT CCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCT CTTCCTCCCTCCCTCCCTCCCCACACACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0010 a0009c0013t0010	a0009c0013t0010g0015 a0009c0013t0010g0015	1	66	0.0152	-529	c.46 others(9): Show c.468_*996del		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					869		chrX	TogoVar
WDR70_chr5_37374318_37758435	37563054	GGGGCGGC others(522): Show GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCGCCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCGGGGGGCTGACCTCCCGGCCTCCCTCCCGGATG GGGGGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAG GCAGAGGCGCCCCTCACTTTCCGGATGGGGCGGCTGGCCGGGCGGGGGGC TGGCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGTGCAGAGGGGCT CCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCAGG ATTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACATCCTTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(56): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG03017.hp2 HG03688.hp2 HG03710.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp2 NA18948.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19010.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0001g0090 a0001c0001t0001g0094 others(56): Show a0001c0001t0001g0033 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0003g0142 a0001c0001t0003g0143	59	240	0.2458	-529	c.918 others(19): Show c.918-41987_918-41459del		WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1052449	GGAGGGTT others(521): Show GGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGG TTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTGCCGG AAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGG CTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGG GAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGT TCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGACGGCTCACAG GGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAG AGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAG GGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCA GGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGG GGCTGGGGGAGGGGTCACAGGGTCAGAGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(217): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0009 others(5): Show a0001c0001 a0001c0003 a0001c0009 a0001c0014 a0002c0005 a0003c0008 a0004c0011 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(70): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0001t0056 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0083 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0003t0023 a0001c0003t0024 a0001c0003t0025 a0001c0003t0051 a0001c0003t0052 a0001c0003t0054 a0001c0009t0018 a0001c0014t0010 a0002c0005t0001 a0003c0008t0020 a0004c0011t0009 a0005c0015t0061	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 others(217): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0002g0052 a0001c0001t0002g0080 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0191 a0001c0001t0002g0210 a0001c0001t0002g0224 a0001c0001t0003g0058 a0001c0001t0003g0066 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0091 a0001c0001t0003g0111 a0001c0001t0003g0120 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0142 a0001c0001t0003g0149 a0001c0001t0003g0193 a0001c0001t0003g0201 a0001c0001t0003g0208 a0001c0001t0003g0220 a0001c0001t0003g0239 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0264 a0001c0001t0004g0269 a0001c0001t0004g0291 a0001c0001t0004g0299 a0001c0001t0004g0309 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0317 a0001c0001t0004g0320 a0001c0001t0004g0330 a0001c0001t0004g0333 a0001c0001t0005g0267 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0274 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0292 a0001c0001t0005g0298 a0001c0001t0005g0305 a0001c0001t0005g0310 a0001c0001t0005g0321 a0001c0001t0005g0323 a0001c0001t0006g0055 a0001c0001t0006g0088 a0001c0001t0006g0117 a0001c0001t0006g0141 a0001c0001t0006g0146 a0001c0001t0006g0161 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0001t0006g0209 a0001c0001t0006g0219 a0001c0001t0006g0234 a0001c0001t0007g0250 a0001c0001t0007g0254 a0001c0001t0007g0281 a0001c0001t0007g0283 a0001c0001t0007g0289 a0001c0001t0007g0318 a0001c0001t0007g0327 a0001c0001t0008g0006 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0009g0003 a0001c0001t0009g0021 a0001c0001t0009g0022 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0035 a0001c0001t0009g0044 a0001c0001t0009g0045 a0001c0001t0009g0049 a0001c0001t0010g0262 a0001c0001t0010g0275 a0001c0001t0010g0294 a0001c0001t0010g0300 a0001c0001t0010g0311 a0001c0001t0010g0315 a0001c0001t0011g0233 a0001c0001t0011g0247 a0001c0001t0012g0092 a0001c0001t0012g0184 a0001c0001t0013g0042 a0001c0001t0013g0047 a0001c0001t0013g0048 a0001c0001t0014g0096 a0001c0001t0014g0243 a0001c0001t0014g0244 a0001c0001t0015g0263 a0001c0001t0015g0266 a0001c0001t0015g0276 a0001c0001t0015g0293 a0001c0001t0017g0112 a0001c0001t0017g0226 a0001c0001t0018g0110 a0001c0001t0019g0212 a0001c0001t0019g0217 a0001c0001t0020g0135 a0001c0001t0021g0273 a0001c0001t0021g0282 a0001c0001t0023g0034 a0001c0001t0026g0026 a0001c0001t0026g0029 a0001c0001t0027g0037 a0001c0001t0027g0038 a0001c0001t0028g0121 a0001c0001t0028g0122 a0001c0001t0029g0115 a0001c0001t0029g0178 a0001c0001t0030g0106 a0001c0001t0030g0211 a0001c0001t0031g0241 a0001c0001t0032g0304 a0001c0001t0033g0265 a0001c0001t0033g0328 a0001c0001t0034g0002 a0001c0001t0035g0013 a0001c0001t0039g0009 a0001c0001t0040g0001 a0001c0001t0041g0014 a0001c0001t0043g0007 a0001c0001t0044g0020 a0001c0001t0045g0248 a0001c0001t0046g0153 a0001c0001t0050g0133 a0001c0001t0056g0175 a0001c0001t0058g0165 a0001c0001t0060g0148 a0001c0001t0062g0190 a0001c0001t0063g0240 a0001c0001t0066g0090 a0001c0001t0068g0152 a0001c0001t0069g0214 a0001c0001t0070g0186 a0001c0001t0071g0176 a0001c0001t0072g0246 a0001c0001t0073g0114 a0001c0001t0075g0172 a0001c0001t0076g0079 a0001c0001t0077g0290 a0001c0001t0078g0268 a0001c0001t0080g0253 a0001c0001t0083g0331 a0001c0001t0086g0312 a0001c0001t0088g0332 a0001c0001t0089g0297 a0001c0001t0090g0287 a0001c0003t0023g0005 a0001c0003t0024g0039 a0001c0003t0025g0004 a0001c0003t0025g0008 a0001c0003t0051g0105 a0001c0003t0052g0216 a0001c0003t0054g0232 a0001c0009t0018g0101 a0001c0014t0010g0308 a0002c0005t0001g0187 a0002c0005t0001g0198 a0003c0008t0020g0131 a0004c0011t0009g0028 a0005c0015t0061g0213	220	325	0.6769	-528	c.156 others(19): Show c.1562-2343_1562-1816del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22						chr17	TogoVar
BCKDK_chr16_31103386_31117791	31104662	AGTCCGGG others(521): Show AGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGG GTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCCGCCGCCCCTACTGGGA AGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	298	0.0034	-528	c.-39 others(11): Show c.-3994_-3467del		BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding					3723		chr16	TogoVar
CAMK1D_chr10_12344547_12840545	12775003	ATGTGAGA others(521): Show ATGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0140 a0001c0002t0065g0140	1	208	0.0048	-528	c.565 others(17): Show c.565+5796_565+6323del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914028	CCCCGAGG others(521): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCC GAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0221 a0004c0005t0001g0221	1	171	0.0058	-528	c.212 others(18): Show c.2121-1298_2121-771del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914061	GCCCGAGG others(521): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG01346.hp1 others(2): Show HG00642.hp2 HG01169.hp2 HG01346.hp1 HG02056.hp2 HG02698.hp2	a0004 a0017 a0004 a0017	a0004c0005 a0004c0019 a0004c0038 others(1): Show a0004c0005 a0004c0019 a0004c0038 a0017c0031	a0004c0005t0001 a0004c0019t0001 a0004c0038t0001 others(1): Show a0004c0005t0001 a0004c0019t0001 a0004c0038t0001 a0017c0031t0002	a0004c0005t0001g0224 a0004c0005t0001g0227 a0004c0019t0001g0158 others(2): Show a0004c0005t0001g0224 a0004c0005t0001g0227 a0004c0019t0001g0158 a0004c0038t0001g0194 a0017c0031t0002g0028	5	235	0.0213	-528	c.212 others(18): Show c.2121-1331_2121-804del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914127	CCCCGAGG others(521): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCC CGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0222 a0004c0005t0001g0222	1	121	0.0083	-528	c.212 others(18): Show c.2121-1397_2121-870del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
DIRAS1_chr19_2709567_2726372	2713141	TCACCTCC others(521): Show TCACCTCCTCCATCCTTCATCCCATCCCTCACTTCCTACACCCATCGCCT CCTCCACCCTTCACCCCATACCTCACTTCCTACACCCATCACCTCCTCCA CCCTTCACCCCATACCTCACTTCCTACACCCACCACCTCCTCCACCCTTC ATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCGTC ACTGTCTACACCGATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCACCACCTCCTCCACCCTTAATGCCATCTCTCACTTCCTACACC CATCACCTCCTCCACCCTTCATCCCATCCATCACTGTCTACACCCATCAC CTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACCTCCTC CACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCT TCATCCCATTCCTCACTTCCTACACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03453.hp2 NA19043.hp1 HG01884.hp2 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0012	3	407	0.0074	-528	c.35 others(11): Show c.3541_*4068del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					1425		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713776	TCCCATCC others(521): Show TCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACCCACCACCTCCTCC ACCCTTCACCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTT CACACCATCCCTCACTTCCTACACCCACCACTTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCT CACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTC CTACACCCACCACCTTCTCAACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0093 a0001c0002t0040g0093	1	389	0.0026	-528	c.29 others(11): Show c.2906_*3433del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					790		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713794	ACACCCGT others(521): Show ACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTCCACCCACCACCTCCTCCACCCTTCACCCCATCCCT CACTTCCTACACCCATCACCTCCTCCACCCTTCACACCATCCCTCACTTC CTACACCCACCACTTCCTCCACCCTTCATCCCATCCCTCACTTCCTACAC CCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTTCT CAACCCTTCACCCCATCCCTCACTTCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG03942.hp2 NA19002.hp1 HG01981.hp1 HG03942.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0007g0059 a0001c0001t0001g0004 a0001c0001t0007g0059	3	404	0.0074	-528	c.28 others(11): Show c.2888_*3415del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					772		chr19	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(521): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	200	0.0050	-528	c.454 others(17): Show c.454-3031_454-2504del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	167693	CATGGTCT others(521): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG03139.hp2 others(3): Show HG01891.hp2 HG02886.hp2 HG03139.hp2 HG03453.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0009 a0001c0002t0020 others(1): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0020 a0001c0002t0036	a0001c0002t0003g0060 a0001c0002t0009g0063 a0001c0002t0009g0064 others(3): Show a0001c0002t0003g0060 a0001c0002t0009g0063 a0001c0002t0009g0064 a0001c0002t0020g0061 a0001c0002t0020g0065 a0001c0002t0036g0062	6	337	0.0178	-528	c.454 others(17): Show c.454-4017_454-3490del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DPH7_chr9_137549444_137583925	137567996	TCTGTCTG others(521): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	332	0.0030	-528	c.641 others(17): Show c.641-3370_641-2843del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPP6_chr7_154047398_154899285	154660199	GATGGTGA others(521): Show GATGGTGAATCACCATGGCATATTGGCCGTAGTGTTCATATAGTCATGGT GAATCACGATGGCGTATTGGCCGTAGTGTTCACGCAGTCATGGTGAATCA CCATGGCGTATTGGCCGTAGTGTTCACGCAGTCATGGTGAATCACCATGG CGTATTGGCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATT GGCCGTAGTGTTCATATAGTCATGGTGAATCACCATGGCGTATTGGCCCT AGTGTTCATGCAGTCATGATGAATCACCATGGCATATTGGCCGTAGTGTT CATATAGTCATGGTGAATCACCATGGCATATTGGCGCTAGTGTTCATATA GTCATGGTGAATCACCATGGCGTATCGGCCGTAGTGTTCATATAGTCATG GTGAATCACCATGGCATATTGGCCGTAGTGTTCATATACTCATGGTGAAT CACCATGGCGTATTGGCCGTAGTATTCATATAGTCATGGTGAATCACCAT GGCATATTGGCGCTAGTATTCATATAGTC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG02280.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0007 a0002c0004t0006 a0001c0003t0007 a0002c0004t0006	a0001c0003t0007g0024 a0002c0004t0006g0028 a0001c0003t0007g0024 a0002c0004t0006g0028	2	38	0.0526	-528	c.681 others(17): Show c.681-9142_681-8615del		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137818862	GCGCCGTG others(521): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACC GAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAG AGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAG GGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTA CCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAG AGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTG AGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTG TACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGT AGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGAC TGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCG TGTACCGAGACCGTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	159	0.0126	-528	c.354 others(18): Show c.3540+725_3540+1252del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26						chr9	TogoVar
GALNT9_chr12_132191372_132334589	132232391	TGTGGAGT others(521): Show TGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCT ACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02004.hp2 HG02738.hp2 HG00280.hp1 HG02004.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0001t0001g0023 a0001c0002t0001g0100 a0001c0002t0001g0105	3	101	0.0297	-528	c.107 others(21): Show c.1077+14991_1077+15518del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
LRRC24_chr8_144517388_144532033	144531505	GGGCTAGA others(521): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0007 a0001c0005t0001g0007	1	382	0.0026	-528	c.-51 others(11): Show c.-5133_-4606del		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding					4473		chr8	TogoVar
MCF2L_chr13_112964214_113104742	113067802	GCGGAGGC others(521): Show GCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCA GTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTC GGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCT GGAGTCCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACC TGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGT GAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTTGG AGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGG AGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTG GGTGGTGCAACGCTGGAGTGCCAGCTACT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0095 a0001c0004t0005g0095	1	80	0.0125	-528	c.881 others(17): Show c.881+1689_882-1673del		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MRTFA_chr22_40405289_40641719	40501469	ACCTCCCA others(521): Show ACCTCCCAGACGGGGCGGCTGGCCCGGCGGAGGGCTGACCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAAGGGCTCCTCACTTCCCATTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGTGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCATAGGGGCTCCTCACTTCCCA GTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0074 a0001c0002t0004g0074	1	136	0.0074	-528	c.242 others(19): Show c.242-38711_242-38184del		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MUC4_chr3_195741771_195816929	195779767	GGAAGAGG others(521): Show GGAAGAGGGGTGGCATGTCCTGTGGATGCCGAGGAAACGTCGGTGACAGG AAGACGGGTGGTGTCATCTGTGGAAGCTGAGGAAGTGTCGGTGACAGGAA GAGGGGTGGCGTGACGTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGA GGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTAACAGGAAGAGG GGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA TGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTG GCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGT GTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCT GACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCA CCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACC TGTGGACACTGAGGAAGCGTCGGTGACAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01361.hp2 NA19043.hp2 HG01361.hp2 NA19043.hp2	a0015 a0015	a0015c0011 a0015c0011	a0015c0011t0002 a0015c0011t0002	a0015c0011t0002g0194 a0015c0011t0002g0195 a0015c0011t0002g0194 a0015c0011t0002g0195	2	241	0.0083	-528	c.112 others(11): Show c.11285_11812del	p.Leu others(15): Show p.Leu3762_Leu3937del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11924/16756	11285/16239	3762/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195787535	CGGTGACA others(521): Show CGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTA GTGACAGGAAGAGGCATGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGT GACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGA CATGAAGAGGAGTGACGTGACCTGTGGATGCTGAGGAAGTGCTAGTGACA GGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAGTGTCGGTGACAAG AAGAGAGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAA GAGGGGTGGTGTGACCTGTGGATGCTGCGGAAGGGATGGTTACAGGAAGA GAGGTGGCGTGATCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGG GGTGGCGTGTCCTGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGGG TGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTG GTGTCACCTGTGGATACTGAGGAAAGGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19074.hp1 NA19074.hp1	a0117 a0117	a0117c0150 a0117c0150	a0117c0150t0003 a0117c0150t0003	a0117c0150t0003g0215 a0117c0150t0003g0215	1	247	0.0040	-528	c.351 others(9): Show c.3517_4044del	p.Ser others(15): Show p.Ser1173_Thr1348del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4156/16756	3517/16239	1173/5412			chr3	TogoVar
MYOM2_chr8_2040046_2150456	2085493	TCACTGTT others(521): Show TCACTGTTGTGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGG CCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGC GTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTG ATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCA CTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCC CCCACAGTCGTGATCTCTTTGTGGCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0142 a0005c0142	a0005c0142t0001 a0005c0142t0001	a0005c0142t0001g0257 a0005c0142t0001g0257	1	376	0.0027	-528	c.164 others(17): Show c.1644+110_1644+637del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085538	CGTGGCCC others(521): Show CGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATC TCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTG TCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCAC TGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGT GGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCT GCGTGGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02723.hp2 NA18965.hp2 others(2): Show HG00544.hp1 HG02723.hp2 NA18965.hp2 NA18968.hp1 NA19058.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0003 a0001c0138 a0003c0004 others(2): Show a0001c0003 a0001c0138 a0003c0004 a0005c0108 a0006c0205	a0001c0003t0001 a0001c0138t0001 a0003c0004t0002 others(2): Show a0001c0003t0001 a0001c0138t0001 a0003c0004t0002 a0005c0108t0007 a0006c0205t0001	a0001c0003t0001g0310 a0001c0138t0001g0312 a0003c0004t0002g0293 others(2): Show a0001c0003t0001g0310 a0001c0138t0001g0312 a0003c0004t0002g0293 a0005c0108t0007g0389 a0006c0205t0001g0187	5	373	0.0134	-528	c.164 others(17): Show c.1644+157_1644+684del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085548	CTGTCATG others(521): Show CTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCA CTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCC CCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGC CCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATC TCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTC GTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0001 a0002c0040t0001	a0002c0040t0001g0054 a0002c0040t0001g0054	1	401	0.0025	-528	c.164 others(17): Show c.1644+159_1644+686del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36						chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085750	GCCCCCCA others(521): Show GCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTG CGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTC TTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGT GATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAG TCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCC CCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGT GGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGC GTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTT GCGTGGCCCCACTGTCATGATCTCTGGCA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0013 a0013	a0013c0177 a0013c0177	a0013c0177t0001 a0013c0177t0001	a0013c0177t0001g0058 a0013c0177t0001g0058	1	392	0.0026	-528	c.164 others(17): Show c.1644+365_1644+892del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NEMF_chr14_49777083_49857788	49820974	AGTGAGGA others(521): Show AGTGAGGAGCGTCTCTGCCCGGCCGCCCATCATCTGAGATGTGGGGAGCA CCTCTGCCCCGCCGCCCCGTCTGGGATGTGAGGAGCACCTCGGCCCGGCC GCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTG AGAAGTGAGGAGCCCCTCCGCCCGGCTGCCACCCCGTCTGGGAAGTGAGG AGCGTCTCCGCCCGGCAGCCACCACGCCCGGGAGGGAGGTGGGGGGGTCA GCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGCTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGCTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCAGTCAGCCGCCCCGTCCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(192): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19076.hp2 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0002 a0003c0008 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0004t0002 a0001c0005t0001 a0001c0009t0001 a0001c0010t0002 a0001c0011t0001 a0001c0012t0001 a0002c0002t0001 a0003c0008t0001 a0004c0006t0002 a0005c0007t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(191): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0003g0001 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0006g0024 a0001c0001t0007g0196 a0001c0001t0009g0013 a0001c0004t0002g0016 a0001c0004t0002g0032 a0001c0004t0002g0034 a0001c0004t0002g0035 a0001c0004t0002g0036 a0001c0004t0002g0037 a0001c0005t0001g0140 a0001c0009t0001g0092 a0001c0010t0002g0169 a0001c0011t0001g0083 a0001c0012t0001g0170 a0002c0002t0001g0137 a0002c0002t0001g0138 a0003c0008t0001g0142 a0004c0006t0002g0025 a0005c0007t0002g0163	195	220	0.8864	-528	c.157 others(19): Show c.1577+4365_1577+4892del		NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	16/32						chr14	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(521): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0100 a0005c0013t0001g0100	1	243	0.0041	-528	c.901 others(14): Show c.901+62_901+589del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRPF6_chr20_63976132_64038100	64012336	CGGCTTCT others(521): Show CGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGA GGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGA AATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTTCTTTGCT AGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCT TTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTC ACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACA GGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAG AGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATAC ACCTACGAGAGGAGGACAGGAAGTCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18906.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0220 a0001c0001t0001g0221	2	292	0.0068	-528	c.152 others(18): Show c.1524+892_1524+1419del		PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr20	TogoVar
PWWP2A_chr5_160086339_160124450	160122257	GTGACAGA others(521): Show GTGACAGAGCAAGACTTTGTCTCAAAAAAAATTAATAAATAATAAATAAA TATTAAAGGACTACTGTGTTTCAGTGACTGGACTAGTCAGGCAGAAGGCA TGAAATAAAGAATACAAAAGATATCACTTGAGTTCAGGAGTTCAAGACCA GCCTGGGCAACACAGGGGTTTCACTGTGTTGCCCAGGCTGGTGAATATAT ATATATACGAAAGATTTAGTAACTGCCCTCCTGAGGATTATTTTTCTAGT TGGGGAACTGTAAAATGAGCATACAATGAATAAAAAGATGATCACAGATG TAAGCAATACCATGAGAGAAATAAACAGGGTGAGAGAATAGAAGTAGCTG GCAGAGGGGCTGAAGGGTGTCTCCTCTAGATAAGGTTGTCACAAAAGCCC TCTCTGAGGATTGGACATCTTAACTAAGATGCAAAGGAAAAGGCAACCAG CTATTGATATTGCTGGATGAACATTTGGATGAAAAGGAACAGCAATTGTT TGAAGTTCTGAGGCAAAAGAGGGCTTGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA19240.hp1 HG02258.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0031 a0001c0004t0030 a0001c0004t0031	a0001c0004t0030g0325 a0001c0004t0031g0326 a0001c0004t0030g0325 a0001c0004t0031g0326	2	382	0.0052	-528	c.-33 others(11): Show c.-3397_-2870del		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding					2808		chr5	TogoVar
RADIL_chr7_4792055_4888716	4803015	CACCTCAG others(521): Show CACCTCAGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGTACCTCGGGGC ACGCTGGCTGGGTCCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGGG GCCCCCTCCCCGGGTACCTCGGGGCACTCTGGCTGGGTCCCCTCCCCGGG CACCTCGGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGTACCTCGGGGC ACACTGGCTGGGCCCCCTCCCCGGGCACCTCAGGGCACGCTGGCTGGGGG GCCCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGTGGCCCCCTCCCC GGGCACCTCAGGGCACGCTGGCTGGGTCCCCTCCCCGGGCACCTCGGGGC ACGCTGGCTGGGTGGCCCCCTCCCCGGGCACCTCGGGGCACACTGGCTGG GCCCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGTGGCCCCCTCCCC GGGCACCTCGGGGCACGCTGGCTGGGTCCCCTCCCCGGGCACCTCGGGGC ACGCTGGCTGGGGGGCCCCCTCCCCGGGT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18969.hp2 NA19082.hp2 NA18969.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0277 a0001c0001t0001g0184 a0001c0001t0001g0277	2	282	0.0071	-528	c.249 others(15): Show c.2499+3_2499+530del		RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14						chr7	TogoVar
SMYD3_chr1_245744347_246512279	245974605	CAGGGAAA others(521): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	142	0.0070	-528	c.532 others(19): Show c.532-45196_532-44669del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975825	GGCCCAGG others(521): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCC TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03017.hp1 HG02647.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0033 a0002c0004t0001g0107 a0001c0001t0002g0033 a0002c0004t0001g0107	2	136	0.0147	-528	c.532 others(19): Show c.532-46416_532-45889del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976521	AGCCCAGG others(521): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0118 a0002c0003t0001g0118	1	118	0.0085	-528	c.532 others(19): Show c.532-47112_532-46585del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
TRIP13_chr5_887884_923120	898467	TCAGTCAG others(521): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	383	0.0026	-528	c.388 others(17): Show c.388+1739_389-1434del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar

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