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
HSPBAP1_chr3_122734999_122798831	122780300	C C	CCTCCCGG others(215): Show CCTCCCGGACGGGGCGGCTGACCGGGCGGGGGGCTGACCCCCCACCTCCC TCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCG GGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGA CGGGGGGCTGAACCCCCAACTCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG02055.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0199 a0001c0001t0002g0200	2	350	0.0057	222	c.65- others(237): Show c.65-2395_65-2394insTGAGTTGGGGGTTCAGCCCCCCGTCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAG CTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT GGGGGGTCAGCCCCCCGCCCGGTCAGCCGCCCCGTCCGGGAG	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	1/7			chr3	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(215): Show TCCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCAC CATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCA TCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACC ACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCAC CATCACCTCCACCACCATCACCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0086 a0001c0002t0003g0086	1	274	0.0037	222	c.804 others(239): Show c.804+4319_804+4320insTGGTGATGGTGGTGGAGGTGATGGTGGT AGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGG TGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAG GAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGT AGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(215): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATG TATATACGGAATATATATATATGGAATATATATACGGAATATATATATGG AATATATATACGGAATATATATATATGGAACATATATATACGGAATATAT ACATATGGAACATATATATACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	323	0.0031	222	c.-21 others(233): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAA TATATATACGGAATGTATATACGGAATATATATATATGGAATATATATAC GGAATATATATATGGAATATATATACGGAATATATATATATGGAACATAT ATATACGGAATATATACATATGGAACATATATATACGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IGF2_chr11_2124117_2144389	2126489	A A	ATGGGTGA others(215): Show ATGGGTGAGTGGATGGGTGGGTGGGTGGACTGTTGGGTGGACGAATAGAT GGGTGGATGGATGAGTGGGTGAGACTGGGTAAGTGGGTGAGTGGGTAGAT GGGATGGATGAATAGATGGATGAATGGGTGGATGGGTGGAGGGGTAAGTA AATGGATAAATGAGTGGGTGAGTGAGTAGTAGGTGGGGTGTTTGTGGATG GGATGGATGAATAGGTGGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0082 a0001c0001t0084g0082	1	388	0.0026	222	c.64 others(233): Show c.6497_*6498insCCCATCCACCTATTCATCCATCCCATCCACAAAC ACCCCACCTACTACTCACTCACCCACTCATTTATCCATTTACTTACCCCT CCACCCATCCACCCATTCATCCATCTATTCATCCATCCCATCTACCCACT CACCCACTTACCCAGTCTCACCCACTCATCCATCCACCCATCTATTCGTC CACCCAACAGTCCACCCACCCACCCATCCACTCACCCA	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		2627		chr11	TogoVar
INPP5A_chr10_132532787_132788480	132574024	A A	ACGTGCCG others(215): Show ACGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGA GGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGA TGTTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGC GTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGAGG TTTTGTTGAGATGTTGGGGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	204	0.0049	222	c.76- others(239): Show c.76-33827_76-33606dupGTTGGGGTGTGCGTGCCGTGGGAGGTTT TGTTGAGATGTTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGATGTTG GGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCC GTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGGGAGGTTTTG TTGAGATGTTGGGGTGTGCGTGCCGTGGGAGGTTTTGTTGAGAT	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC3_chr12_61767_183455	131042	C C	CTCCTCAG others(215): Show CTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCCCCCCACACCTGG CCCCCGCTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCAC ACCTGGCCCCCGCTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCC CCCCACACCTCCCCGCGATCCTCAGCACTGTGCCCCCCAGCTAGCGGCTC TTCCCCCCCACACCTCCCCGCGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0019 a0003c0010t0019	a0003c0010t0019g0178 a0003c0010t0019g0178	1	282	0.0036	222	c.903 others(239): Show c.903+5166_903+5167insCCCCCACACCTGGCCCCCGCTCCTCAGC ACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCACACCTGGCCCCCGCTC CTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCCCCCCACACCTCCCCG CGATCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCCCCCCACACCT CCCCGCGATCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ISYNA1_chr19_18429388_18443133	18442165	A A	ACCACACA others(215): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACAACCCACACT GCACACCCCAACACACCACACCCTCACACCACACACCAACACACACCACA CACCAACACACACCACACCCACACCACACATAAACCACACCCACACCCAA CACACATACCACATCCACACATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00642.hp1 others(101): Show HG00280.hp1 HG00408.hp1 HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18955.hp2 NA18961.hp2 NA18970.hp2 NA18975.hp1 NA18985.hp1 NA18994.hp2 NA19002.hp2 NA19030.hp2 NA19043.hp2 NA19067.hp2 NA19074.hp1 NA19081.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0005c0009	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0007t0003 a0005c0009t0001	a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0002g0028 others(6): Show a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0002g0028 a0001c0002t0006g0014 a0001c0003t0001g0002 a0001c0003t0001g0027 a0001c0007t0003g0015 a0001c0007t0003g0030 a0005c0009t0001g0022	104	308	0.3377	222	c.-40 others(233): Show c.-4083_-4082insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGTGTG TTGGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGTTG TGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGT GTGGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4033		chr19	TogoVar
ISYNA1_chr19_18429388_18443133	18442165	A A	ACCACACA others(215): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCGAACACACACCACACAACCCACACT GCACACCCCAACACACCACACCCTCACACCACACACCAACACACACCACA CACCAACACACACCACACCCACACCACACATAAACCACACCCACACCCAA CACACATACCACATCCACACATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	308	0.0033	222	c.-40 others(233): Show c.-4083_-4082insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGTGTG TTGGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGTTG TGTGGTGTGTGTTCGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGT GTGGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4033		chr19	TogoVar
JPH2_chr20_44101590_44192188	44134483	T T	TTATATAT others(215): Show TTATATATATATATAATATATATAATATATATTTATTAATATATAATAAA TATATATTTATAATATATATAAATAAATATATATTTATAATAAATAAATA TAAATATATATTTATTTATATAAATAAATATATATTTATTTATATAAATA AATATATATTTATTATATATAAATAAATATATATTTATTTATATAAATAA ATATATATTTATTTATATAAATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	338	0.0030	222	c.117 others(243): Show c.1170-15861_1170-15860insTATTTATATAAATAAATATATATT TATTTATATAAATAAATATATATTTATTTATATATAATAAATATATATTT ATTTATATAAATAAATATATATTTATTTATATAAATAAATATATATTTAT ATTTATTTATTATAAATATATATTTATTTATATATATTATAAATATATAT TTATTATATATTAATAAATATATATTATATATATTATATATATATATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KATNIP_chr16_27545144_27785344	27713739	T T	TACATATT others(215): Show TACATATTATATATATGTGTGTGTATATATATACACATACATATTATATA TATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATTATATATATGTGTGTGTATATATATACACATACATATTATATATA TGTGTGTGTATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0137 a0001c0012t0002g0137	1	152	0.0066	222	c.160 others(241): Show c.1605+4846_1605+4847insATATACACATACATATTATATATATG TGTGTGTATATATATACACATACATATTATATATATGTGTGTGTATATAT ATACACATACATATTATATATATGTGTGTGTATATATATACACATACATA TTATATATATGTGTGTGTATATATATACACATACATATTATATATATGTG TGTGTATATATATACACACACATATTATATATATGTGTGTGTATAT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(215): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATCCAAGAGGATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	232	0.0043	222	c.-67 others(241): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATCCAAGAGG ATATATATATATATATATATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TCACCACC others(215): Show TCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACC ATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAT CACCATCACCACCACCATCACCATTATCACCACCACCATCACCACCATCA CCACCACCACCATCACCATCACCACCACCATCACCATTATCACCACCACC ATCACCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG01261.hp2 others(6): Show HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01934.hp1 HG01952.hp2 HG02027.hp1 HG02071.hp1 HG02300.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0010 a0001c0002t0043 a0002c0001t0001 others(1): Show a0001c0002t0010 a0001c0002t0043 a0002c0001t0001 a0002c0001t0063	a0001c0002t0010g0190 a0001c0002t0010g0191 a0001c0002t0043g0009 others(6): Show a0001c0002t0010g0190 a0001c0002t0010g0191 a0001c0002t0043g0009 a0002c0001t0001g0186 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0243 a0002c0001t0063g0209	9	330	0.0273	222	c.691 others(237): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGGTG GTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATG GTGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45228897	C C	CCCCACCA others(215): Show CCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTG AGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCT TCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCAT CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCG AAAGATCCCTCTCCACCCCCCAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0100 a0001c0001t0100g0100	1	398	0.0025	222	c.64+ others(239): Show c.64+11742_64+11743insTTGGGGGGTGGAGAGGGATCTTTCGGGT GAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGC GGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGG GATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGT GAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228926	A A	ACCCCCAC others(215): Show ACCCCCACACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCCACC ACTCACCCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGA TCCCTCTCCACCCCCACACCACCACTCACCCGAAAGATCCCTCTCCACCC CCCAACCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACT CACCCGAAAGATCCCTCCCCATC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	398	0.0025	222	c.64+ others(239): Show c.64+11713_64+11714insGATGGGGAGGGATCTTTCGGGTGAGTGG TGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTG GAGAGGGATCTTTCGGGTGAGTGGTGGTGTGGGGGTGGAGAGGGATCTTT CGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGG GGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTGTGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTCCTT others(215): Show TTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTT CTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0222 a0001c0001t0034g0222	1	308	0.0033	222	c.-25 others(241): Show c.-25+38849_-25+38850insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(215): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp1 HG02647.hp1 others(3): Show HG01123.hp1 HG01261.hp1 HG02647.hp1 HG03195.hp2 HG03471.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0042 a0001c0002t0054	a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0003g0237 others(3): Show a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0003g0237 a0001c0001t0019g0215 a0001c0001t0042g0239 a0001c0002t0054g0248	6	308	0.0195	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(215): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01346.hp2 others(7): Show HG00639.hp1 HG01081.hp2 HG01346.hp2 HG03490.hp1 NA18942.hp1 NA18956.hp1 NA18963.hp1 NA19062.hp2 NA19072.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0065	a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0002g0228 others(7): Show a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0003g0204 a0001c0001t0003g0241 a0001c0001t0008g0199 a0001c0001t0008g0201 a0001c0001t0065g0277	10	308	0.0325	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(215): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19030.hp2 NA19043.hp2 HG02109.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0002g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0002g0193	3	308	0.0097	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(215): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	308	0.0033	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(215): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTCCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0020 a0001c0001t0016g0020	1	308	0.0033	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTCCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(215): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp2 HG03453.hp2 HG02976.hp1 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0026 a0001c0003t0017 a0001c0001t0026 a0001c0003t0017	a0001c0001t0026g0040 a0001c0001t0026g0041 a0001c0003t0017g0039 a0001c0001t0026g0040 a0001c0001t0026g0041 a0001c0003t0017g0039	3	308	0.0097	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(215): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0004 a0001c0001t0059g0004	1	308	0.0033	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(215): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18980.hp1 NA18978.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0003g0110 a0001c0001t0002g0001 a0001c0001t0003g0110	2	308	0.0065	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(215): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03710.hp1 HG00621.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0183 a0001c0001t0005g0181 a0001c0001t0003g0183 a0001c0001t0005g0181	2	308	0.0065	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(215): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0262 a0001c0001t0013g0262	1	308	0.0033	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(215): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCT CTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0087 a0001c0001t0062g0087	1	308	0.0033	222	c.-25 others(241): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KLHL23_chr2_169728832_169756878	169750105	T T	TACGTATG others(215): Show TACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACA TATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATACG TTTGTATGTATACATATATGTGTATATATACGTTTGTATGTATACATATA TGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTG TATGTATACATATATGTGTATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG03225.hp2 others(1): Show HG02258.hp2 HG02280.hp1 HG03225.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0117 a0001c0001t0119 a0001c0002t0144 others(1): Show a0001c0001t0117 a0001c0001t0119 a0001c0002t0144 a0001c0002t0145	a0001c0001t0117g0286 a0001c0001t0119g0292 a0001c0002t0144g0193 others(1): Show a0001c0001t0117g0286 a0001c0001t0119g0292 a0001c0002t0144g0193 a0001c0002t0145g0036	4	400	0.0100	222	c.37 others(231): Show c.374_*375insCGTATGTATGTATACATATATGTGTATATATACGTA TGTATGTATACATATATGTGTATATATACGTATGTATGTATACATATATG TGTATATATACGTTTGTATGTATACATATATGTGTATATATACGTTTGTA TGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTA TATATACGTGTGTATGTATACATATATGTGTATACA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	375	INFO_REALIGN_3_PRIME	chr2	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742402	T T	TATCCATA others(215): Show TATCCATAACCATAGCCACAGCCAGAGCCATATCCACAACCATAGCCACA GCCAGTTCCATATCCAGAGCCGTATTGACAGCCAGAGCCACATCCACAGC CAGAGCCACATCCACAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCA GAGCCATATCCACAACCATAGCCAGAGCCAGAGCCATATCCACAGCCATA GCCACAGCCAGAGACATATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	380	0.0026	222	c.45 others(233): Show c.4548_*4549insGTGGATATGTCTCTGGCTGTGGCTATGGCTGTGG ATATGGCTCTGGCTCTGGCTATGGTTGTGGATATGGCTCTGGCTCTGGCT ATGGCTGTGGATATGGCTCTGGCTGTGGATGTGGCTCTGGCTGTGGATGT GGCTCTGGCTGTCAATACGGCTCTGGATATGGAACTGGCTGTGGCTATGG TTGTGGATATGGCTCTGGCTGTGGCTATGGTTATGGAT	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		4391		chr21	TogoVar
LAMC1_chr1_183018420_183150592	183150184	C C	CACAGCTC others(215): Show CACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTC TCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACACA GCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCAC ACACCAGACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCCCACA CCCCTCTCCTCCTCACACACCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18992.hp2 NA18980.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0261 a0001c0003t0003g0282 a0001c0003t0003g0261 a0001c0003t0003g0282	2	308	0.0065	222	c.73 others(233): Show c.7394_*7395insACAGCTCACACCCCTCTCCTGCTCACACACCACA CAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTC CTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCA CACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTCCTCACAC ACCACACAGCCCACACCCCTCTCCTCCTCACACACCAG	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4593		chr1	TogoVar
LHPP_chr10_124456823_124619141	124507524	T T	TCGGGGGG others(215): Show TCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT CGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTG GTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT CGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTC GGGGGGGTAGACAGGATTTCAGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	260	0.0039	222	c.624 others(239): Show c.624+9396_624+9397insCGGGGGGGTAGACAGGATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGG GGGTAGGGAGTATTTCAGGTGGTGGGGGGGTAGGGAGTATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507598	T T	TGGGGGGG others(215): Show TGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT TGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	260	0.0039	222	c.624 others(239): Show c.624+9471_624+9472insGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTTGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTCG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088734	G G	GGAGGGCA others(215): Show GGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG AGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAG GGAGGGCAGGATCTGTGCAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01106.hp2 others(21): Show HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01496.hp2 HG01934.hp2 HG02074.hp2 HG02602.hp2 HG02738.hp1 HG03490.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18940.hp1 NA18942.hp2 NA18961.hp2 NA18999.hp2 NA19002.hp2 NA19011.hp2 NA19060.hp2 NA19064.hp1 NA19077.hp1 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0001 a0004c0005t0001g0008 a0001c0001t0001g0001 a0004c0005t0001g0008	24	102	0.2353	222	c.-45 others(233): Show c.-4516_-4515insACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTTCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGCCTTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTC	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4337		chr20	TogoVar
LMF1_chr16_848634_975984	955484	C C	CACACACA others(215): Show CACACACATCTAAGTGAACCAGACACGTTACATAAAATGCGTGCCTGCAG CAGATGCGGTGTGTGCATACACACACACACATCTAAGTAAACCAGACACG TTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTGTGCATCCACACACA CACATCTAAGTAAACTAGACACGTTACATAAAATGCGTGCCCGCAGCAGA GACGGTGTGTGCGTACACACACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0127 a0004c0027t0001g0127	1	294	0.0034	222	c.194 others(237): Show c.194-819_194-818insTGTGTGTGTACGCACACACCGTCTCTGCTG CGGGCACGCATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGTGT GGATGCACACACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCT GGTTTACTTAGATGTGTGTGTGTGTATGCACACACCGCATCTGCTGCAGG CACGCATTTTATGTAACGTGTCTGGTTCACTTAGATGTGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMX1B_chr9_126608928_126706032	126660022	T T	TGTGGGGG others(215): Show TGTGGGGGGCATCTACACTGGCCTTAGAGATTGTCCTGTGTGAGGGTGTC TACAATGGCCTTAGAGATTGTTCCATGTGGGGGTGTACACTGGCTTCAGA GGTTGTCCTGTGTGGGGGTGTCTACACTGCCCTTAGAGATTGTCTTGTGT GGGGGGTATCTACACTGGCTTCAGAGATTGTCTTGTGTGGGGGTGTCTAC ACTGGCTTCAGAGGTTGTCCTGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0157 a0001c0002t0056g0157	1	342	0.0029	222	c.327 others(241): Show c.327-30807_327-30806insGCATCTACACTGGCCTTAGAGATTGT CCTGTGTGAGGGTGTCTACAATGGCCTTAGAGATTGTTCCATGTGGGGGT GTACACTGGCTTCAGAGGTTGTCCTGTGTGGGGGTGTCTACACTGCCCTT AGAGATTGTCTTGTGTGGGGGGTATCTACACTGGCTTCAGAGATTGTCTT GTGTGGGGGTGTCTACACTGGCTTCAGAGGTTGTCCTGCGTGGGGG	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
LRRC37A3_chr17_64849130_64924478	64912240	T T	TATGCAGA others(215): Show TATGCAGATATACATCTACATACATACACAATGTATGCATGTAGATATAC ATCTACATACATACACAATGTATGCATGTAGATATACATCTACATACATA CACAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCA TGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATACAT CTACATACATACACAATGTATGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02559.hp2 others(4): Show HG01109.hp2 HG02257.hp1 HG02559.hp2 HG02896.hp2 HG03041.hp1 HG03209.hp1 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0122 a0003c0003t0001g0123 others(3): Show a0003c0003t0001g0001 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0127	7	138	0.0507	222	c.-49 others(241): Show c.-496+6509_-496+6510insGCATACATTGTGTATGTATGTAGATG TATATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGC ATACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTAT GTATGTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTA TATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTGCAT	LRRC37A3	ENSG00000176809.11	transcript	ENST00000584306.6	protein_coding	2/14			chr17	TogoVar
LRRC37A3_chr17_64849130_64924478	64912240	T T	TATGTAGA others(215): Show TATGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATAC ATCTACATACATACACAATGTATGCATGTAGATATACATCTACATACATA CACAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCA TGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATACAT CTACATACATACACAATGTATGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01346.hp2 HG02970.hp1 others(6): Show HG00558.hp1 HG01346.hp2 HG02970.hp1 HG03098.hp1 NA18522.hp1 NA18975.hp1 NA19043.hp1 NA19085.hp2 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0008 a0001c0001 a0012c0008	a0001c0001t0001 a0012c0008t0001 a0001c0001t0001 a0012c0008t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0092 a0012c0008t0001g0064	9	138	0.0652	222	c.-49 others(241): Show c.-496+6509_-496+6510insGCATACATTGTGTATGTATGTAGATG TATATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGC ATACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTAT GTATGTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTA TATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACAT	LRRC37A3	ENSG00000176809.11	transcript	ENST00000584306.6	protein_coding	2/14			chr17	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(215): Show TCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0312 a0001c0002t0001g0312	1	388	0.0026	222	c.456 others(239): Show c.456+1574_456+1575insCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCCA others(215): Show CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACT CACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCC ACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0357 a0001c0002t0001g0357	1	388	0.0026	222	c.456 others(239): Show c.456+1574_456+1575insCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCA GGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCATCACC others(215): Show CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCATCACCATCACCACCACCACCATCACC ACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0228 a0001c0003t0003g0228	1	362	0.0028	222	c.391 others(237): Show c.391+829_391+830insTCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCACCATCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(215): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGTGGAGGGGGGAGAGGGGGGA GAGGGGGGAGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGA GGGGGGAGAGGGGGGAGGGGGAGGGGGGGAGGGGGGAGGGGGGGGAGGGG GGAGAGGGGGGAGGGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0001 a0018c0014t0001	a0018c0014t0001g0025 a0018c0014t0001g0025	1	163	0.0061	222	c.525 others(239): Show c.525+8627_525+8628insCCCTCCCCCCCTCCCCCCTCTCCCCCCT CCCCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCCTCTCCCCCCTCCCC CTCTCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCTCCCCCCTCTCCCC CCTCTCCCCCCTCCACCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19478003	G G	GGAGAGAG others(215): Show GGAGAGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGG AGAGGGGGGAGGGGGAGAGGGGGGAGGGGAGAGGGGGGAGGGGGAGAGGG GGGAGGGGGAGAGGGGGAGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGG GGAGAGGGGGAGGGGGAGAGGGGGAGAGGGGGGGGGGAGGGGGGAGGGGG GAGGGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	163	0.0061	222	c.525 others(239): Show c.525+8478_525+8479insTCCCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCCCTCCCCCCCCCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC CCCCCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCCCCCTCCCCCCTC TCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCC TCCCCCCTCTCCCCCTCCCCCCTCTCTCCCCTCCCCCCTCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(215): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02897.hp1 HG01109.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0022 a0001c0001t0006g0053 a0001c0001t0005g0022 a0001c0001t0006g0053	2	102	0.0196	222	c.111 others(241): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGGCGCGATCTCCGC TCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATCTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894908	T T	TATATATA others(215): Show TATATATACATGCATGTGATGCATATATATACATGCATGTGATGCATATA TATACATGCATGTGATGCATATATATACATGCATGTGATGCATATATATA CATGCATGTGATGCATATATACATGCATGTGATGCATATATACATGCATG TGATGCATATATACATGCATGTGATGCATATATATACATGCATGTGATGC ATATATATACATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0055 a0002c0003t0001g0055	1	102	0.0098	222	c.-38 others(241): Show c.-38-40740_-38-40739insGCATCACATGCATGTATATATATGCA TCACATGCATGTATATATATGCATCACATGCATGTATATATGCATCACAT GCATGTATATATGCATCACATGCATGTATATATGCATCACATGCATGTAT ATATATGCATCACATGCATGTATATATATGCATCACATGCATGTATATAT ATGCATCACATGCATGTATATATATGCATCACATGCATGTATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(215): Show TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATGCA TGTGATGCATATATATATATGCATGTGATGCATATATATATGCATGTGAT GCATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0013 a0001c0002t0011g0013	1	102	0.0098	222	c.-38 others(241): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATGCATCACATGCATATATATATATGCATCACATGC ATATATATATGCATCACATGCATATATATATATGCATCACATGCATATAT ATATATGCATCACATGCATATATATATATGCATCACATGCATATATATAT ATGCATCACATGCATATATATATATGCATCACATGCATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MCOLN2_chr1_84920583_85002113	84987552	A A	ATACATAT others(215): Show ATACATATATACATATATGTATATACCTATATACATATATAGATATATAC ATATGTATATATGTATATAGATATACATACATAGATATATACATATATGT ATATATATACATATATGTATATCTATATACATATATGTATATATATACAT ATATGTATATATATATACATATATGTATATATCGATATATACATATATGT ATATATCGATATATACATATATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	350	0.0029	222	c.77+ others(237): Show c.77+9243_77+9244insCATATATGTATATATCGATATATACATATA TGTATATATCGATATATACATATATGTATATATATATACATATATGTATA TATATACATATATGTATATAGATATACATATATGTATATATATACATATA TGTATATATCTATGTATGTATATCTATATACATATATACATATGTATATA TCTATATATGTATATAGGTATATACATATATGTATATATGTA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(215): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA GCCCGGAGCTGTAGAAACACGGCCGGGAGCTGCAGAAACACAGCCGGGAG CTATAGAAACACGGCCCGGAGCTGTAGAAACACGGCCCGGAGCTATAGAA ACGGCCCAGAGTCCAGAAACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG03225.hp1 HG02257.hp2 HG02717.hp1 HG03225.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0113 a0002c0004t0003g0122 a0002c0004t0003g0123 a0002c0004t0003g0113 a0002c0004t0003g0122 a0002c0004t0003g0123	3	384	0.0078	222	c.984 others(239): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTATAGCTCCC GGCTGTGTTTCTGCAGCTCCCGGCCGTGTTTCTACAGCTCCGGGCTGTTT CTGGACTCTGGGCCGTTTCTATAGCTCCGGGCCATGTTTCTACAGCTCCC GGCCTGTTTCTGCAGCTCCGGGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MLPH_chr2_237482251_237560322	237542803	G G	GGGCACGG others(215): Show GGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGGGCACAGTGGTGAGTGGAGACAGTGGTGAGTTGGGGGACAGTAGTG AGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAG TGAGTAGGGGGACAGTGGTGAAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0257 a0003c0003t0002g0257	1	286	0.0035	222	c.153 others(239): Show c.1539+145_1539+146insGCACGGTAGTGAGTGGGGGGACAGTGGT GAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTGGAGACAGTGG TGAGTTGGGGGACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGT AGTGAGTGGGGAGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGTACA GTGGTGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237547341	T T	TAGGTGGA others(215): Show TAGGTGGAGTGGTTAGGAGTAGGAGCAGTGCACAGAGGGCAGAGCCAGCC TGGGAGGGAGGAGCTCCCCGTGTTCAGGTGGAGTGGTTAGGAGTAGGAGC AGTGCACAGAGGGCAGAGCCAGCCTGGGAGGGAGGAGCTCCCCGTGTTCA GGTGGAGTGGTTAGGAGTAGGAGCAGTGCACAGAGGGCAGAGCCAGCCTG GGAGGGAGGAGCTCCCCGTGTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	286	0.0035	222	c.161 others(239): Show c.1617+718_1617+939dupGAGCTCCCCGTGTTCAGGTGGAGTGGTT AGGAGTAGGAGCAGTGCACAGAGGGCAGAGCCAGCCTGGGAGGGAGGAGC TCCCCGTGTTCAGGTGGAGTGGTTAGGAGTAGGAGCAGTGCACAGAGGGC AGAGCCAGCCTGGGAGGGAGGAGCTCCCCGTGTTCAGGTGGAGTGGTTAG GAGTAGGAGCAGTGCACAGAGGGCAGAGCCAGCCTGGGAGGGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MND1_chr4_153339688_153420118	153381681	T T	TAATATAT others(215): Show TAATATATATAATATAATATATATATATATAATATATATAATATAATATA TATATATATAATATATATAATATAATATATATATATTATATATAATATAA TATATATATATAATATATATAATATATATATTATATTATATATATTATAT ATATATTATATTATATATATTATATATATATATTATATTATATATATTAT ATATATATATTATATATAATATA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	342	0.0029	222	c.277 others(241): Show c.277-12580_277-12579insATATATATAATATAATATATATATAT ATAATATATATAATATAATATATATATATATAATATATATAATATAATAT ATATATATTATATATAATATAATATATATATATAATATATATAATATATA TATTATATTATATATATTATATATATATTATATTATATATATTATATATA TATATTATATTATATATATTATATATATATATTATATATAATATAA	MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MPPED1_chr22_43407014_43512848	43432775	A A	AGAGAGAA others(215): Show AGAGAGAAAGGGAGGATGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GGAGGAGAGAGAGAGAAAGGGAGGATGAGAGAGATAAAGGGAGGAGAGAG AGATAAAGGGAGGAGAGAGAGAGAAAGGGAGGATGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAAGGGAGG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	250	0.0040	222	c.225 others(239): Show c.225-2253_225-2252insAAGGGAGGATGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGGAGGAGAGAGAGAGAAAGGGAGGATGAGAGAGAT AAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAGAAAGGGAGGATG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAGGGAGGGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar

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