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
DPEP1_chr16_89608642_89643433	89635146	C C	CCCTTTCC others(435): Show CCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTC CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTC CTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	250	0.0040	442	c.105 others(457): Show c.105-762_105-761insCCTTTCCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCCCT TTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(435): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATATGTTTACACATATATATGTGTAAATATACCTAT GTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02723.hp1 HG04115.hp1 others(4): Show HG01952.hp2 HG02723.hp1 HG04115.hp1 NA18969.hp2 NA18983.hp1 NA18990.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0093 others(4): Show a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0015g0126	7	398	0.0176	442	c.477 others(461): Show c.477+47644_477+47645insATGTTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATAC CTATATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATATGTGTAAATATACCTATGTGTGTATTTACACATATATATGT AAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EIPR1_chr2_3183970_3382818	3315804	T T	TACCACCA others(435): Show TACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATC ACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCA TCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTA CCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCAC CACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATC CACAGCCCCACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCAC CATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATCCAC AGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	250	0.0040	442	c.259 others(461): Show c.259+22212_259+22213insGGGGCTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGG ATGGTGGTGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGC TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGAT GGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGG TGGTGATGGTGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137355458	G G	GGAGGAAG others(435): Show GGAGGAAGGAGGAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAG GAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGACGG AGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGATG GAGGAAGGAGGAAGGAGGGACGGAGGAAGGGAGGATGGAGGAAGGAGGAA GGAGGAAGGGAGGAAGGGGATGGGGAAGGAGGACGGGAGGGGAAGGGGAT GGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGATGGAGGAAGGAGAGA AGGAGGAAGGAGAGAAGGAGGAAGGGAGGAAGGAGGAAGGGAGGAAGGAG AAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGAGGAGGAAGGA GGAAGGAGGAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	82	0.0122	442	c.758 others(457): Show c.758-686_758-685insTCCGTCCTCCTTCCTCCTTTCTCCTTCCTC CCTTCCTCCTTCCTCCTTCCTCCTCTTCCTCCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCTCCTTCCTCCCTTCCTCCTTCCTCCCTTCCTCCTTC TCTCCTTCCTCCTTCTCTCCTTCCTCCATCCTCCCTTCCTCCATCCTCCT TCCTCCTTCCTCCATCCCCTTCCCCTCCCGTCCTCCTTCCCCATCCCCTT CCTCCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCGTCCCTCC TTCCTCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCC ATCCTCCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCC GTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCC TCCTCCTTCCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355717	A A	AGGACGGA others(435): Show AGGACGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGG AGAAGAGGAAGGAGAAGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGG AAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGA AGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAA AGGGAGGAAGGAGGCCGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAA AGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGCCGGAAGGAGCGAAGGGA GGCCTGGAGGAAGGAGAAGGGAGGAAGGCCGGAAGGAGGAGGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0018 a0006c0005t0001g0018	1	82	0.0122	442	c.757 others(457): Show c.757+550_757+551insGCCTCCTCCTTCCGGCCTTCCTCCCTTCTC CTTCCTCCAGGCCTCCCTTCGCTCCTTCCGGCCTTCCTCCTTCCTCCTTC CTCCATCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCGGC CTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCT CCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCTTC TCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTC CTTCCTCCGTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(435): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAG TGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0108 a0002c0030t0001g0108	1	308	0.0033	442	c.157 others(457): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(435): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATATATAGTATATATACACTATATATATAGTGTATATACACTATA TATATAGTATATATACACTATATATATAGTATATATACACTATATATACA CTATATATGTATATATATACATATATAGTGTATATATAGTGTATATATAC ACTGTATATGTATATATAGTGTATATATACACTATATATACACTGTATAT GTATATATAGTGTATATATACACTATATATACACTGTATATGTATATATA GTGTATATATACACATACACTGTATATGTATATATAGTGTATATATACAC TATACACTGTATATGTATATATAGTGTATATATACACTATACACTGTATA TGTATATATAGTGTATATATACACTATACACTGTATATGTATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	204	0.0049	442	c.114 others(461): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATGTGTATATATACACTATATATACATATACAGTGTATATATAGTGTAT ATATACACTATATATACATATACAGTGTATATATAGTGTATATATACACT ATATATACATATACAGTGTATATATACACTATATATACACTATATATGTA TATATATACATATATAGTGTATATATAGTGTATATATACTATATATATAG TGTATATATACTATATATATAGTGTATATACACTATATATATAGTGTATA TATACTATATATAGTGTATATATACTATACATATATAGTGTATATATAGT GTATATATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GALR1_chr18_77244848_77282900	77259188	T T	TGGTCATG others(435): Show TGGTCATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATG GTGGTGGTGGTCATAGTGGTGGTGGTGGTGGTCATGGTGGTGATGGTGAT GGTGGTGGTGGTCATGTGATGGTGGTGCTGGTGATGGTGGTGATGGTGAC GATGGTTATGGTGGTGATGATGGCAATTGTGATAGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGCTGGTGATGGTG GTGATGGTGGTGGTGATGGTGGTGATGATGGTGGTCATAGTGGTGATGGT GGTGGGCGGTAGTGGTGGTGATGATGGTCATGGTGGTGATGATGGTGGTC ATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGG TCACAGTGGTGGTGGTGTTGGTGGTGGTCATGGTGGTGATGAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0269 a0001c0001t0083g0269	1	366	0.0027	442	c.732 others(459): Show c.732+2968_732+2969insCATGGTGGTGATGGTGGTGATGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGGTGGT CATGGTGGTGATGGTGATGGTGGTGGTGGTCATGTGATGGTGGTGCTGGT GATGGTGGTGATGGTGACGATGGTTATGGTGGTGATGATGGCAATTGTGA TAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTCATAGTGGTG GTGGTGCTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGATGGT GGTCATAGTGGTGATGGTGGTGGGCGGTAGTGGTGGTGATGATGGTCATG GTGGTGATGATGGTGGTCATGGTGGTCATGGTGGCGATTGTGGTGATGGT GGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTCATG GTGGTGATGACGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(435): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCACC TCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCT TCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCC CCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCC CTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCC CCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCCTTC CCCCTCCCCTCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	290	0.0035	442	c.972 others(457): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCTCCTTTCCCCTCCCCTCCTTGCACC TCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCT TCCCCTCCTTCCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCC CCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTC CCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCC CTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTT CCCCTTTCCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCTCCTTCCCCC TTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(435): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCCTCCCCTTCCCCTC CTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCC CCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCC TTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCC TCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCC CTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	290	0.0035	442	c.972 others(457): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCTTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCT CTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCT TCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTC CCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTT CCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCC TTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(435): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATTTATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCACATATAAATATATATAAATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0204	1	208	0.0048	442	c.-97 others(459): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCACATATA AATATATATAAATATACATGTATATTTATTCACATATAAATATATATAAA TATACATGTATATTTATTCACATATAAATATATATAAATATACATGTATA TTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(435): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0014 a0003c0003t0002g0014	1	268	0.0037	442	c.-28 others(453): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GTPBP6_chrX_299759_323796	322067	G G	GAAAAATT others(435): Show GAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGG GACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATG GGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAGAAAAGAAAA GAAAAATTAGCCGGGCGTGGTGGTGGTTGCCTGTGGTCCCAGCTGCTCGG GACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATG GGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAAAAAA GAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACG CTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCA ATATGGTAAGACCCTATTATCTACAAAAAAAAAGAAAAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0146 a0010c0013t0001g0146	1	155	0.0065	442	c.-32 others(453): Show c.-3281_-3280insTTCTTTTTTCTTTTTTTTTGTAGATAATAGGGTC TTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTC CCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCC CGGCTTTTCTTTTTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTAC CATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCAC CTCAGCGTCCCGAGCAGCTGGGACCACAGGCAACCACCACCACGCCCGGC TAATTTTTCTTTTCTTTTCTTTTTTTTTTTTGTAGATAATGGGGTCTTAC CATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCAC CTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGC TAATTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3272		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106710137	T T	TTATATAC others(435): Show TTATATACATGTATATAACATATAGTTATGTATATTATATACATGTATAT AACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGTA TATTATATACATGTATATAACATATAGTTATGTATATTATATACATGTAT ATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATG TATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGT ATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTA TGTATATTATATACATGTATATAACTATATGTATATAATATATAGTACAT GTATATAATATATAGTTATATATAATATAGTTATATACATGTATATAATA TATAGTTATATATAATAGTTATATATATTATATACATGTATAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG06807.hp1 HG01255.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0003t0018 a0001c0001t0019 a0001c0003t0018	a0001c0001t0019g0085 a0001c0003t0018g0252 a0001c0001t0019g0085 a0001c0003t0018g0252	2	256	0.0078	442	c.183 others(461): Show c.1837-1472_1837-1471insTTATACATGTATATAATATATATAAC TATTATATATAACTATATATTATATACATGTATATAACTATATTATATAT AACTATATATTATATACATGTACTATATATTATATACATATAGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAC ATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATA TACATGTATATAATATACATAACTATATGTTATATACATGTATATAATAT ACATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTA TATACATGTATATAATATACATAACTATATGTTATATACATGTATATAAT ATACATAACTATATGTTATATACATGTATATAATATACATAACTATATGT TATATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HSD17B14_chr19_48808018_48841491	48835265	G G	GGCCTGGA others(435): Show GGCCTGGACTCCTGGGTCTGAGGGAAGAGGGGCTGAGGTCTGGACTCCTG GGTCTGAGGAAGTAGGACCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCTTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGAAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGCTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03041.hp2 HG02109.hp1 HG02647.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0378 a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0378	3	394	0.0076	442	c.127 others(457): Show c.127+539_127+540insTCCCAGCCCTTCCTCCCTCAGACCCAGGAG TCCAGGCCCCCAGGCCCTACTTCCTCGGAGCCAGGAGTCCAGGCTCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTTCCTC AGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTC CAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCC CTCCTCCCTCAGACCCAGGAGTCCAAGCCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG GCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGTCCT ACTTCCTCAGACCCAGGAGTCCAGACCTCAGCCCCTCTTCCCTCAGACCC AGGAGTCCAGGC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(435): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCC TCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC CCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCC CGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	330	0.0030	442	c.124 others(457): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCC GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG CCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCC TCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC CCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCC CGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNA6_chr9_21345318_21355887	21347070	T T	TCAAGGAT others(435): Show TCAAGGATCTAGAACCAGAAATACCATTTGACCCAGCAATCTCATTACTA GATATATACCGAAGGGAATATATGTTATTCTGTTATAAAGATACATGCAT GTGTTTGTTTATTGCAGCACTATTCACAATAGCAAATACATAGAATCAAC TCAAATGCCCATTGATTATAGATTGGATAAAGAAACATGGTACATATACC CTATGGAATGCTATGTAGCCATGAAAAGGAATGAGATCATGTCCTTTGCA GGGACAATGGATGGAGCTGGAAGCCATTATCCTCAGCAAATTAACAGGAA CAGAAAATTAAACATCACATTTTCTCACTCATATATGGGAGCTGAACAAT GAGAACACATGGACACAGGAAGGGAAACAACATTGGAAGGCATGGGGAGG GAGAGCATCAGGATAAATAGCTAATGCATGTGATGCTTAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	422	0.0024	442	c.32 others(453): Show c.3247_*3248insGTATTAAGCATCACATGCATTAGCTATTTATCCT GATGCTCTCCCTCCCCATGCCTTCCAATGTTGTTTCCCTTCCTGTGTCCA TGTGTTCTCATTGTTCAGCTCCCATATATGAGTGAGAAAATGTGATGTTT AATTTTCTGTTCCTGTTAATTTGCTGAGGATAATGGCTTCCAGCTCCATC CATTGTCCCTGCAAAGGACATGATCTCATTCCTTTTCATGGCTACATAGC ATTCCATAGGGTATATGTACCATGTTTCTTTATCCAATCTATAATCAATG GGCATTTGAGTTGATTCTATGTATTTGCTATTGTGAATAGTGCTGCAATA AACAAACACATGCATGTATCTTTATAACAGAATAACATATATTCCCTTCG GTATATATCTAGTAATGAGATTGCTGGGTCAAATGGTATTTCTGGTTCTA GATCCTTG	IFNA6	ENSG00000120235.5	transcript	ENST00000380210.2	protein_coding		3247		chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322871	A A	ATGGAATA others(435): Show ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATGGAATACATATATATGGAATATATATATGGA ATACATATATATGGAATACATATATATGGAATACACATATGGAATACATA TATATGGAATACATATATGGAATACATATATATGGAATACATATATGGAA TACATATATATGGAATACATATATGGAATACATATATATGGAATACATAT ATGGAATACATATATATGGAATACATATATGGAATACATATATATGGAAT ACATATATGGAATACATATATGTGGAATACATATATGGAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0033 a0002c0004t0002g0033	1	323	0.0031	442	c.-21 others(453): Show c.-2185_-2184insTGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATGGAATACATATATATG GAATATATATATGGAATACATATATATGGAATACATATATATGGAATACA CATATGGAATACATATATATGGAATACATATATGGAATACATATATATGG AATACATATATGGAATACATATATATGGAATACATATATGGAATACATAT ATATGGAATACATATATGGAATACATATATATGGAATACATATATGGAAT ACATATATATGGAATACATATATGGAATACATATATGTGGAATACATATA TGGAATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2098		chr21	TogoVar
INS_chr11_2154779_2166209	2161579	G G	GACCCCTG others(435): Show GACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCTGGGACCCCTGTCCCCA CACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCGG GACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGG GACCCCTGTCCTCACACCCCTGTCCCCACACCCCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	376	0.0027	442	c.-43 others(451): Show c.-430_-429insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGAGGAC AGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGAC AGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT GTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTG TGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGAC AGGGGTGTGGGGACAGGGGTCCCAGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGAC AGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		371		chr11	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(435): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG02738.hp2 others(1): Show HG01081.hp2 HG01496.hp1 HG02738.hp2 HG03139.hp2	a0001 a0007 a0012 others(1): Show a0001 a0007 a0012 a0020	a0001c0004 a0007c0048 a0012c0029 others(1): Show a0001c0004 a0007c0048 a0012c0029 a0020c0036	a0001c0004t0004 a0007c0048t0001 a0012c0029t0054 others(1): Show a0001c0004t0004 a0007c0048t0001 a0012c0029t0054 a0020c0036t0057	a0001c0004t0004g0031 a0007c0048t0001g0221 a0012c0029t0054g0059 others(1): Show a0001c0004t0004g0031 a0007c0048t0001g0221 a0012c0029t0054g0059 a0020c0036t0057g0048	4	282	0.0142	442	c.258 others(459): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCC CCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(435): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03516.hp1 HG01243.hp1 HG03516.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0028 a0002c0001t0004g0029 a0002c0001t0004g0028 a0002c0001t0004g0029	2	282	0.0071	442	c.258 others(459): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCC CCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(435): Show CCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCC TCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCTCAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTC CCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTCCCCTCCCTC CACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTC CCCTCCCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0023 a0002c0001t0008g0023	1	282	0.0036	442	c.258 others(459): Show c.2584-107_2584-106insAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTC CTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCT CCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCC CCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP1_chr4_6021199_6205549	6067677	G G	GGTTCACT others(435): Show GGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACG TTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGT TCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTC ACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCAC TCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTTCA CTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	233	0.0043	442	c.130 others(461): Show c.1303-2670_1303-2669insGTGGAGCTCAGGGGGGTGACCTGCGT GTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGT GCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTG TGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTG CAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCA GAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTGT GCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGCGTGTGC AGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAG AAGAGCTTGAGTGAAC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132173137	C C	CCCCTCCC others(435): Show CCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCT CCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCCTCTCC CCCTCCCCTCCCCCCTCTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCT CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCA TCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCC CCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTC CTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCT TCCCTCTCTCTCTCTCCTCCTCCTTCCCCCTGTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19240.hp2 HG01884.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0006 a0002c0016t0006 a0001c0001t0006 a0002c0016t0006	a0001c0001t0006g0006 a0002c0016t0006g0052 a0001c0001t0006g0006 a0002c0016t0006g0052	2	158	0.0127	442	c.11 others(463): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCC TCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCC CTCCCCTCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCCCCCTCTCTC TCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCC CCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCT CTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCTCCTCCTTCCCCCT GTCTCTCTCTCTCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF1A_chr2_240708767_240825219	240780984	A A	ACAGCTCC others(435): Show ACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACAC ACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACAC ACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCC ACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACAC AGCTCCACACACACACACACAGCTACACACACACACACACACACACACAC ACACAGCGCCACACACACACAGCTCCACACACACACACAGCTCCACACAC ACACAGCTCCACACACACACACACAGCTCCACACACACACAGCTCCACAC ACACACACACACACACAGCTCCACACACACACAGCTCCACACACACACAC ACAGCTCCACACACACACACACAGCTCCACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0323 a0001c0003t0002g0323	1	330	0.0030	442	c.882 others(459): Show c.882+1605_882+1606insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGGCGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCTGTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGTGTGTGTGGGGAGCTGTGTGTGTGTGTG TGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGTGGAGCTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(435): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTG GGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGG GGTGATGATGGTGAGGGTGATGATGGTGGGGGTAATGACGGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0001 a0017c0019t0001	a0017c0019t0001g0150 a0017c0019t0001g0150	1	186	0.0054	442	c.956 others(459): Show c.956+1962_956+1963insCACCGTCATTACCCCCACCATCATCACC CTCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCAT CATCACCCCCACCCCCACCATCATCACCCCCACCATCACCATCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCAT CACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCTCC ACCCCCATCATCACCGTCATCACCCCCACCATCATCACCCCCAGCCCCAC CGTCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCA CCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LMF1_chr16_848634_975984	886545	A A	ATTCCCCA others(435): Show ATTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTC CCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCG GCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCC TCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCC CGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCC CCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCC CCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGG CCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGG CCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0023 a0001c0008t0001g0023	1	294	0.0034	442	c.729 others(459): Show c.729+6461_729+6462insCGCCGGGGGCCTAGGGTGGGAGGGGCCT GGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGC CTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGCCTAGGGTGGGAGGGGC CTGGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGG GCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGCCTAGGGTGGGAGGG GCCTGGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGG GGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGCCTAGGGTGGGAG GGGCCTGGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCC GGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGCCTAGGGTGGG AGGGGCCTGGGGAA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LOC128125818_chr4_6059977_6075162	6067677	G G	GGTTCACT others(435): Show GGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACG TTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGT TCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTC ACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCAC TCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTTCA CTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19059.hp2 NA18974.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	2	462	0.0043	442	c.106 others(459): Show c.106+2379_106+2380insGTGGAGCTCAGGGGGGTGACCTGCGTGT GCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGC AGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTG TGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGTG CAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTGCA GAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGA AGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTGTGC AGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGCGTGTGCAG AAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAA GAGCTTGAGTGAAC	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LRGUK_chr7_134122340_134269595	134190878	A A	AAAGCAGT others(435): Show AAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGA TAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGC GGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGG GATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGA GCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTG GGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTT GAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTC TGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAG TTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0137 a0001c0003t0003g0137	1	220	0.0046	442	c.133 others(459): Show c.1335-709_1335-708insAAGCAGTTCTGGGGATAGACAGTAGTTG AGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCT GGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGT TGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTT CTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTA GTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAG TTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAG TAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGC AGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGAC AGTAGTTGAGCGGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(435): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0170 a0001c0001t0015g0170	1	296	0.0034	442	c.368 others(459): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTAT GTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC23_chr12_6899822_6919229	6909266	T T	TTGTATAT others(435): Show TTGTATATATATTATTATATATATAATAATATATATACAATATATAATTA TATATAATATATAATTATATATAATATATAATTATATATAATATATAATT ATATATTATTATATAATATATAATTATATATTATATAATTATATATTATA TAATAATATATAATTATATAATATATAATTATATATTATATAATAATATA TAATTATTAATAATATATAATAATATATAATATATAATTATATATTATAT AATAATATATAATTATATATTATATATAATTATATATTATATAATATATA ATTATATATAATATATAAATATATAATATATAAATATATATAATATATAA ATATATAATATATAAATATATATAATATATAAATATAATATATAAATATA TAATATATAAATATATATAATATATAAATATATAATATATAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0226 a0005c0005t0003g0226	1	316	0.0032	442	c.622 others(457): Show c.622-624_622-623insTGTATATATATTATTATATATATAATAATA TATATACAATATATAATTATATATAATATATAATTATATATAATATATAA TTATATATAATATATAATTATATATTATTATATAATATATAATTATATAT TATATAATTATATATTATATAATAATATATAATTATATAATATATAATTA TATATTATATAATAATATATAATTATTAATAATATATAATAATATATAAT ATATAATTATATATTATATAATAATATATAATTATATATTATATATAATT ATATATTATATAATATATAATTATATATAATATATAAATATATAATATAT AAATATATATAATATATAAATATATAATATATAAATATATATAATATATA AATATAATATATAAATATATAATATATAAATATATATAATATATAAATAT ATAATATATAAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC74A_chr14_76821408_76875304	76867174	A A	AGTGTGTG others(435): Show AGTGTGTGTGGGTGTGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTGTGTG GTAGTGTGTGTGGGTGTGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTGTG TGGTAGTGTGTGTGGGTGTGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTG TGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTG TGTGGGGGGGTGTGTTGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGG GGGTGTGTGTTTTGGGGGGGTGTGTGTGGTGGTGTGTGTGGGGGTGTGTG TGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGGGGGTGTGTTGGGGGGTG GGGTGTGTGTGTGGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGG TAGTGTGTGGGGGGGTGTGTGTTTTGGGGGGGTGTGTGTGGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0004 a0007c0026t0004	a0007c0026t0004g0211 a0007c0026t0004g0211	1	408	0.0025	442	c.130 others(459): Show c.1309-171_1309-170insTGTGTGTGTGTGTTGGGGGTGGGGTGTG TGTGTGTGTGGTAGTGTGTGTGGGTGTGTGTGTGTGTTGGGGGTGGGGTG TGTGTGTGTGTGGTAGTGTGTGTGGGTGTGTGTGTGTGTTGGGGGTGGGG TGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTGG GGTGTGTGTGTGTGGGGGGGTGTGTTGGGGGATGGGGTGTGTGTGTGGTA GTGTGTGGGGGGGTGTGTGTTTTGGGGGGGTGTGTGTGGTGGTGTGTGTG GGGGTGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGGGGGTGTG TTGGGGGGTGGGGTGTGTGTGTGGGGGGGTGTGTGTTGGGGGGATGGGGT GTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTTTTGGGGGGGTGTGTGTG GTGGTGTGTGTGGG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(435): Show TATAATATAATATAATTATATAATATATAATTTATATATAATATAATTAT ATAATATATAATTTATATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATAATATAATTATATAATAT ATAATTTATATATAATATAATTATATAATATATAATTTATATATAATATA ATTATATAATATATAATTTATATATAATATAATTATATAATATATAATTT ATATATAATATAATTATATAATATATAATTTATATATAATATAATTATAT AATATATAATTTATATATAATATAATTATATAATATATAATTTATATATA ATATAATTATATAATATATAATTTATATATAATATAATTATATAATATAT AATTTATATATAATATAATTATATAATATATAATTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02683.hp2 HG02698.hp1 others(7): Show HG02273.hp1 HG02683.hp2 HG02698.hp1 HG03669.hp2 NA18941.hp2 NA18946.hp1 NA18950.hp2 NA18953.hp2 NA18992.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0002g0003 a0001c0001t0002g0019	10	288	0.0347	442	c.-31 others(453): Show c.-3142_-3141insTATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATTATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATTATATATAAATTATATATTATATAATTATAT TATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(435): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01346.hp2 others(3): Show HG00642.hp1 HG01074.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp1 NA19009.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0197 others(3): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0197 a0006c0008t0001g0071 a0006c0008t0001g0072 a0006c0008t0001g0073	6	288	0.0208	442	c.483 others(457): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(435): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18980.hp1 HG02155.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	2	390	0.0051	442	c.112 others(459): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(435): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02165.hp1 HG02523.hp1 others(2): Show HG02080.hp1 HG02165.hp1 HG02523.hp1 NA19004.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0088 a0001c0001t0002g0163 a0001c0001t0002g0023 a0001c0001t0002g0088 a0001c0001t0002g0163	5	390	0.0128	442	c.112 others(459): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TATATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(435): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0171 a0001c0001t0008g0171	1	390	0.0026	442	c.112 others(459): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(435): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18980.hp2 HG02155.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	2	364	0.0055	442	c.18 others(453): Show c.1842_*1843insATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGC AGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACC ACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGC ATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGG AGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCT CCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGC CTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(435): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02165.hp2 HG02523.hp1 others(2): Show HG02080.hp1 HG02165.hp2 HG02523.hp1 NA19004.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	5	364	0.0137	442	c.18 others(453): Show c.1842_*1843insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGC AGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACC ACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGC ATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGG AGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCT CCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGC CTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(435): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	442	c.18 others(453): Show c.1842_*1843insATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGC AGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACC ACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGC ATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGG AGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCT CCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGC CTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(435): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGC CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	394	0.0025	442	c.-8+ others(455): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(435): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	442	c.-28 others(453): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATT TATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(435): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	442	c.-28 others(453): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTA TATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(435): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCTTCTCTTCCCT CCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCC TCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCC CTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTC CCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCTTC CTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTCCTTC CCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	104	0.0096	442	c.153 others(459): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGAGAGGGAGGAAGGGGG AGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGG GAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAG GGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NAALADL2_chr3_174854334_175815548	175698308	T T	TGTATGTA others(435): Show TGTATGTATACATATATATGTGTATGTATGTATACATATATATGTGTATG TATGTATACATATATATGTGTATGTATGTATACATATATATGTGTATGTA TGTATACATATATATGTGTATGTATGTATACATATATATGTGTATGTATG TATACATATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTA TGCATATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATG CATATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCA TATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCATA TATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCATATA TATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0023 a0003c0005t0023	a0003c0005t0023g0045 a0003c0005t0023g0045	1	64	0.0156	442	c.189 others(463): Show c.1897-38998_1897-38997insGTATGTATACATATATATGTGTAT GTATGTATACATATATATGTGTATGTATGTATACATATATATGTGTATGT ATGTATACATATATATGTGTATGTATGTATACATATATATGTGTATGTAT GTATACATATATATGTGTATGTATGTATACATATATATGTGTATGTATGT ATGCATATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTAT GCATATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGC ATATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCAT ATATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCATAT ATATGTGTATGTATGTATGCATATATATGTGTATGTATGTATGCATATAT ATGTGTATGTATGTATGC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13			chr3	TogoVar
NHLRC4_chr16_562005_574495	571082	T T	TGTGTGTG others(435): Show TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	442	c.26 others(453): Show c.2663_*2664insGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTG GCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGG CTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGG GGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCT AGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCC TGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1588		chr16	TogoVar
NME4_chr16_392199_405754	397652	C C	CGGGGTGG others(435): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGG TGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	356	0.0028	442	c.91+ others(455): Show c.91+357_91+358insGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGT GAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132149045	A A	ACTCCTAC others(435): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0117 a0004c0008t0001g0117	1	294	0.0034	442	c.901 others(457): Show c.901+153_901+154insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCACACCACACCCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(435): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0290 a0002c0002t0001g0290	1	422	0.0024	442	c.195 others(459): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATATACTAACTATA TTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NPEPPS_chr17_47526108_47628276	47574051	T T	TAGAAAAT others(435): Show TAGAAAATATTTAGAACTGGATTAAGAAAATGTGGCACATATACACCATG GAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGAC ATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAA AAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGA TCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATG ACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAA CTAACCTGCACAATGTGCACATGTACCCTGAAACTTAGAGTATAATAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	342	0.0029	442	c.418 others(459): Show c.418+4575_418+4576insGATTAAGAAAATGTGGCACATATACACC ATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTGAAACTTAGAGTATAATA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA AATATTTAGAACTG	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr17	TogoVar

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