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
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGCG others(360): Show CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA18945.hp2 HG01099.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	400	0.0050	367	c.26 others(378): Show c.2627_*2628insGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2579		chr8	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGGGA others(360): Show TGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTTGGGGGACAGTGGT GAGTGGGCACGGTGGTGAGTGGGGCGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGGACAGTGGTGAGTTGGGGCACAGTGGTGAGTGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGG GACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTC GGGGGACAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	286	0.0035	367	c.153 others(386): Show c.1539+1694_1539+1695insGGACAGTGGTGAGTGGGGGACAGTGG TGAGTTGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGGCGACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTTGGGGCAC AGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGG GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGG GGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGT GGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43499723	A A	AGGTGGTG others(360): Show AGGTGGTGATGGGGGTGGTGGTGGAGGTGGTGGTGGTGGTAGTGGAGGTG GTGGTGGTAGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGGT GGAGGTGTTGGTGGTGGTGATGGGGGTGGCGGTGATGGGGGTGATGGTGG TGATGGTGGTGGTGGAGGTGATGATGGTGGTGGTGATGGAGGTGGTGATG GTGGGTGGTGGTGGAGGTGGTGGTGGTGGTAGTGGAGGTGGTGGTGGTAG TGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGGAGGTGTTG GTGGTGGTGATGGGGGTGGCGGTGATGGGGGTGATGGTGGTGATGGTGGT GGTGGAGGTGATGATGGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0032 a0001c0005t0002g0032	1	250	0.0040	367	c.748 others(384): Show c.748+1396_748+1397insAGGTGGTGGTGGTGGTAGTGGAGGTGGT GGTGGTAGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGG AGGTGTTGGTGGTGGTGATGGGGGTGGCGGTGATGGGGGTGATGGTGGTG ATGGTGGTGGTGGAGGTGATGATGGTGGTGGTGATGGAGGTGGTGATGGT GGGTGGTGGTGGAGGTGGTGGTGGTGGTAGTGGAGGTGGTGGTGGTAGTG GAGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGGAGGTGTTGGT GGTGGTGATGGGGGTGGCGGTGATGGGGGTGATGGTGGTGATGGTGGTGG TGGAGGTGATGATGGTGGTGGTGATGGGGGTGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL28_chr16_361969_375538	370378	C C	CGGCACTC others(360): Show CGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCACTCACCCCCTAACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCACCCCCTAC CCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0201 a0004c0005t0004g0201	1	394	0.0025	367	c.-8+ others(380): Show c.-8+120_-8+121insCCGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAG AGCCGGGGGCCGGGGTTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGT GAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGG GTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCC	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPS11_chr15_88462708_88485776	88474772	T T	TCCATCAG others(360): Show TCCATCAGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	244	0.0041	367	c.282 others(382): Show c.282-324_282-323insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCATCAGATTTCTT	MRPS11	ENSG00000181991.16	transcript	ENST00000325844.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
MSLN_chr16_755734_773862	767642	G G	GGGGGCCG others(360): Show GGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGT GGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGC GTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGG GGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTG GGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGG AGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTG GGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGC CGTGTGGGGGGGTGTGGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	388	0.0026	367	c.159 others(384): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189403	T T	TAAAATCT others(360): Show TAAAATCTTATTTTATATATATTTTATATATTTTATATATATAAAATCTT ATTTTATATATATTTTTATATATAAAAAATCATATTTTATATATATTTTA TATATTTTATATATATGAAATCTTATTTTATATATATTTTATATATATTT TATATATATATAAAATCTTATTTTATATATATTTGATATATATTTTTTAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATTTTATATATATATAAAA TCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATATTTTAT ATATATATAAAATCTTAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	330	0.0030	367	c.-5+ others(382): Show c.-5+3194_-5+3195insGTAAGATTTTATATATATATAAAATATATA TAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATAT ATAAAATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATA TATCAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATATATATAAAATAAGATTTCATATATATAAAATATATAAAATATATAT AAAATATGATTTTTTATATATAAAAATATATATAAAATAAGATTTTATAT ATATAAAATATATAAAATATATATAAAATAAGATTTT	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MYT1L_chr2_1784113_2336275	2035501	A A	AACAATCT others(360): Show AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTC TCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTA ACTTCTCCCCAACAATCTCCATCCTCCAATGCGGGTGCAGAAGAGAGCTC CTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAG CTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAG AGCTCCTAACTTCTCCCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0085 a0001c0018t0002g0085	1	104	0.0096	367	c.-15 others(388): Show c.-158+18476_-158+18477insGGGGAGAAGTTAGGAGCTCTCTTC TGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGGAGCTCTCT TCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTTAGGAGCTC TCTTCTGCACCCGCATTGGAGGATGGAGATTGTTGGGGAGAAGTTAGGAG CTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAGTTAGG AGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTTGGGGAGAAGTT AGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGTGGGGAGAAG TTAGGAGCTCTCTTCTGCACCCGCATTGGAGGGTGGAGATTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(360): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAG GAGGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGG AGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGA GGGAGGGAGGAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGA GGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0018 a0001c0017t0018	a0001c0017t0018g0011 a0001c0017t0018g0011	1	348	0.0029	367	c.887 others(384): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCCCTCC CTCCTCTCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCT CCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCTCTCCTC CCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCC CTCCTCCCGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTC CCTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCC TCCCTCTTCCCTCCTTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCS1_chr9_130167404_130242303	130221881	A A	AATATAAA others(360): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACATAATATAAATTATGTATATATAAATATATATACATAATATAAATTAT GTATATATAAATATATATACATAATATAAATTATGTATATATAAATATAT ATACATAATATAAATTATGTATATATAAATATATATACATAATATAAATT ATGTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18747.hp1 HG01168.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0093 a0001c0002t0038 a0001c0002t0093	a0001c0002t0038g0219 a0001c0002t0093g0212 a0001c0002t0038g0219 a0001c0002t0093g0212	2	348	0.0058	367	c.308 others(382): Show c.308-766_308-765insTAAATTATGTATATATAAATATATATACAT AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAATATAAATTATGTATATATAAATATATAT ACATAATATAAATTATGTATATATAAATATATATACATAATATAAATTAT GTATATATAAATATATATACATAATATAAATTATGTATATATAAATATAT ATACATAATATAAATTATGTATATATAAATATATATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(360): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	367	c.26 others(378): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(360): Show TAGTAACTATATTAATAATATAGTTAGTATATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0302 a0002c0002t0001g0302	1	422	0.0024	367	c.195 others(384): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATATACTAACTATATTATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NSMCE1_chr16_27219994_27273772	27246963	T T	TAAAACTC others(360): Show TAAAACTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19030.hp2 HG02622.hp1 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0140 a0003c0004t0001g0152 a0003c0004t0001g0140 a0003c0004t0001g0152	2	334	0.0060	367	c.136 others(386): Show c.136+10471_136+10472insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCA CGCCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGT CTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGGAGTTTT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(360): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCA CCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTC CCCTTCCCCTCCCCTTCCCCTTCCCCTTCCCTCTCCCCTTCCCTTCCCCT CCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTC CCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0275 a0001c0001t0048g0275	1	326	0.0031	367	c.433 others(384): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGG AAGGGGAGAGGGAAGGGGAAGGGGAAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGG AAGGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGA GGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OR13C3_chr9_104530749_104541856	104541800	A A	ATCCAGGA others(360): Show ATCCAGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGGGTGCAGTGGCGCGACCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CCGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	456	0.0022	367	c.-50 others(378): Show c.-5078_-5077insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGG TCGCGCCACTGCACCCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAATCCTGGA	OR13C3	ENSG00000204246.4	transcript	ENST00000641090.1	protein_coding		4945		chr9	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	438	0.0023	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAAT AATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18999.hp2 NA18963.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	2	438	0.0046	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAAT AATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCACCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	438	0.0023	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGTGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAAT AATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03942.hp1 HG02055.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0184 a0002c0002t0003g0098 a0001c0001t0001g0184 a0002c0002t0003g0098	2	438	0.0046	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAAT AATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCACCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	438	0.0023	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGTGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAT AATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01255.hp2 HG02027.hp1 others(3): Show HG01167.hp2 HG01255.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0008t0001 a0002c0002t0003 a0001c0001t0001 a0001c0008t0001 a0002c0002t0003	a0001c0001t0001g0024 a0001c0008t0001g0176 a0002c0002t0003g0034 a0001c0001t0001g0024 a0001c0008t0001g0176 a0002c0002t0003g0034	6	438	0.0137	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAT AATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01993.hp1 NA18945.hp1 others(1): Show HG01257.hp1 HG01993.hp1 NA18945.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0054 a0002c0002t0001g0116 a0002c0002t0003g0091 a0001c0001t0001g0054 a0002c0002t0001g0116 a0002c0002t0003g0091	4	438	0.0091	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT AATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG04199.hp2 HG02451.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0119 a0001c0001t0001g0126	2	438	0.0046	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 NA18962.hp1 others(1): Show HG00597.hp1 HG00609.hp2 NA18962.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0002c0002t0003 a0001c0001t0002 a0001c0001t0006 a0002c0002t0003	a0001c0001t0002g0072 a0001c0001t0006g0135 a0002c0002t0003g0086 a0001c0001t0002g0072 a0001c0001t0006g0135 a0002c0002t0003g0086	4	438	0.0091	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18948.hp2 NA19082.hp1 NA18943.hp2 NA18948.hp2 NA19082.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0008c0015t0001 a0001c0001t0001 a0001c0001t0002 a0008c0015t0001	a0001c0001t0001g0160 a0001c0001t0002g0229 a0008c0015t0001g0161 a0001c0001t0001g0160 a0001c0001t0002g0229 a0008c0015t0001g0161	3	438	0.0069	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18986.hp2 NA18995.hp1 others(2): Show HG02280.hp1 NA18986.hp2 NA18995.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0127 a0001c0001t0002g0068 a0001c0001t0001g0048 a0001c0001t0001g0127 a0001c0001t0002g0068	5	438	0.0114	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(360): Show ACTGAATGTACATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	438	0.0023	367	c.-29 others(382): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSTM1_chr6_108036409_108079741	108061921	A A	ACAGTAGT others(360): Show ACAGTAGTCAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	388	0.0026	367	c.517 others(384): Show c.517+2263_517+2264insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTGACTACTG	OSTM1	ENSG00000081087.16	transcript	ENST00000193322.8	protein_coding	2/5			chr6	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(360): Show CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGA TACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACT GCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATA CGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGC CCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCGC CCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	292	0.0034	367	c.471 others(382): Show c.471+313_471+314insACCCACTGCCCAGATACGGACCCCCCCCGC CCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCC ACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGG CCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGG ACCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKP_chr10_3062548_3141802	3085605	T T	TTCCCCAG others(360): Show TTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCA CTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCA CTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCA CTCTCCAGCACAGTCCCCCAAACCCTCCCCAGCACAGTCCCCCAAACCCT CCCCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCC CCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCCCC AGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCACTCCACTCTCCA GCACAGTCCCCCACTCCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0145	1	402	0.0025	367	c.186 others(384): Show c.186+3164_186+3165insTCCACTCTCCAGCACAGTCCCCCACTCC ACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCC ACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCC ACTCTCCAGCACAGTCCCCCAAACCCTCCCCAGCACAGTCCCCCAAACCC TCCCCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTC CCCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCCC CAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCACTCCACTCTCC AGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132718391	G G	GTGTCCTG others(360): Show GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG TGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGG TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC ATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGG TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGG TGCATGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0165 a0001c0001t0007g0165	1	394	0.0025	367	c.719 others(382): Show c.719+271_719+272insTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCC TGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG GGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGC GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG TGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5			chr12	TogoVar
PGAP6_chr16_365788_386978	370378	C C	CGGCACTC others(360): Show CGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCACTCACCCCCTAACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCACCCCCTAC CCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	376	0.0027	367	c.16 others(378): Show c.1608_*1609insCCGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGT GAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		409		chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(360): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCACCG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0306 a0001c0002t0002g0306	1	408	0.0025	367	c.-10 others(384): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(360): Show GGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG GGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGAA GAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0091 a0001c0002t0012g0091	1	312	0.0032	367	c.53 others(378): Show c.5377_*5378insGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAG AGGAGGGAAGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(360): Show GGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAAGGAGGGGGAAGGGAGGGGAGGGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGGAAGGGAGGGGAGGGGGAAGAGAGGGGAAGGGAGGGGAGGGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGAGGGGGAAGGGGAGGGGGAA GAGGGTGAAGGGGAGAGGAAGGGGTGAGGGGAGAGGAGGGGAAGGGGGAA GAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0056 a0002c0004t0014g0056	1	218	0.0046	367	c.262 others(382): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC CTCCTCTCCCCTCACCCCTTCCTCTCCCCTTCACCCTCTTCCCCCTCCCC TTCCCCCTCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCCCTCCC CTCCCTTCCCCTCTCTTCCCCCTCCCCTCCCTTCCCCCTCTTCCCCCTCC CCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCCCTCC CCTCCCTTCCCCCTCCTTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTC CCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCC CTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(360): Show GGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG GGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGAA GAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0029 a0001c0001t0015g0029	1	218	0.0046	367	c.262 others(382): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCTTCCCT CCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTC CCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCC CTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561372	T T	TCCTCCTC others(360): Show TCCTCCTCCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCCTCCTAGTCCTC CTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTCATTATCCTCCTT CTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTCCTTTTCTCCTC CTTCTTCTCCTTTTCCTCATCCTTCTCTTCTTCCTCTTCTTCTTCCTCCT CCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCT CCGCCCCCTCTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCT TTTCCTCCTTCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTC CTCCTCCCCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02970.hp2 HG03041.hp2 others(1): Show HG02647.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0007 a0001c0001t0015 a0002c0004t0008 others(1): Show a0001c0001t0007 a0001c0001t0015 a0002c0004t0008 a0002c0004t0011	a0001c0001t0007g0109 a0001c0001t0015g0112 a0002c0004t0008g0111 others(1): Show a0001c0001t0007g0109 a0001c0001t0015g0112 a0002c0004t0008g0111 a0002c0004t0011g0110	4	218	0.0184	367	c.-49 others(378): Show c.-4967_-4966insGGAGGAAGAGGGGAGGAGGAGGGGAGGAGGAGGA GGAAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGG AAGGAGGATGAGGAGAAGGAGGAAGAGGGGGCGGAGGAGGAGGAAGAGGA GAAGAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGA GGAAGAAGAGAAGGATGAGGAAAAGGAGAAGAAGGAGGAGAAAAGGAGGA GGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGAAGGAGGATAATGAGA AGGAGGAGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGGACTAGGAGGAGG AAGAGGAGAAGGAGGAGGAAGAGGAGGAGGAGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4818		chr17	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCAG others(360): Show GGCGCCAGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGC GCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0035 a0035	a0035c0045 a0035c0045	a0035c0045t0122 a0035c0045t0122	a0035c0045t0122g0002 a0035c0045t0122g0002	1	210	0.0048	367	c.45+ others(378): Show c.45+94_45+95insCGCCAGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGG GGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGG GCGGGTGGGGGCGCGGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(360): Show GGCGCCGGGGTAGGGGCGGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGG GGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGG GGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGG GGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0123 a0004c0006t0123	a0004c0006t0123g0003 a0004c0006t0123g0003	1	210	0.0048	367	c.45+ others(378): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGGTGGGGGCGCCGGGG TAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGG TAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGG TAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGG GGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(360): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGGTAGGGGCGGGGTGG GGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0094 a0001c0002t0094	a0001c0002t0094g0021 a0001c0002t0094g0021	1	210	0.0048	367	c.45+ others(378): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGG TAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGG GGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(360): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGGTGGG GGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0022 a0001c0001t0015g0022	1	210	0.0048	367	c.45+ others(378): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGG GGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(360): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0023 a0001c0001t0104g0023	1	210	0.0048	367	c.45+ others(378): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGG GGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(360): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0135 a0001c0001t0024g0135	1	210	0.0048	367	c.45+ others(378): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGG GGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(360): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGGCGCGGGGGTAGGGGCGGGGTGG GGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	210	0.0048	367	c.45+ others(378): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGGCGCGGGGG TAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGG GGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRPF31_chr19_54110754_54136713	54133740	C C	CTCCCTCC others(360): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	227	0.0044	367	c.23 others(378): Show c.2308_*2309insTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2028		chr19	TogoVar
PRSS33_chr16_2778953_2792560	2787267	A A	ACCCCCTC others(360): Show ACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCTCAT CACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCATCCT CACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCCTCCCCCAT CCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCCTCCTCTATCC TCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCAT CCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCCC TCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACC CCCTCCCTCATCCTTCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	386	0.0026	367	c.-58 others(382): Show c.-58+265_-58+266insGTGAAGGATGAGGGAGGGGGTGAAGGATGG GGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA AGGATGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGG AGTGAGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGG GGGGTGAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGG GGTGAGGATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAG GGGGTGACGATGGGGGGGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAG TGAGGATGAGGGAGGGGGTGAAGGATGAGGGAGGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787350	A A	ACCCCCTC others(360): Show ACCCCCTCCCTCATCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCC TCACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCA CCCCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCT CACTCCCCTCCCTCATCCTCACCCCTGTCTCATCCTCACCCCCCTCCCCC ATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCCCATCCTTCACCCC CTCCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCT TCACCCCCTCCCTCATCCTCACTCCTCTCTCATCACCCCTCCTCCATCCT TCACCCCCCCATCGTCAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	386	0.0026	367	c.-58 others(382): Show c.-58+182_-58+183insGTGACGATGGGGGGGTGAAGGATGGAGGAG GGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGGAG GGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGAT GGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGG TGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGG CTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGGTGAGGATGAGGG TGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGG GGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PRSS33_chr16_2778953_2792560	2787350	A A	ACCCCCTC others(360): Show ACCCCCTCCCTCATCCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCC TCACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCA CCCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCAGCCCCCCTCCTCCT CACTCCCCTCCCTCATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCA TCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCC TCCCCCATCCTTCACCCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCT TCACCCCCTCCCTCATCCTCACTCCTCTCTCATCACCCCTCCTCCATCCT TCACCCCCCCATCGTCAC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	386	0.0026	367	c.-58 others(382): Show c.-58+182_-58+183insGTGACGATGGGGGGGTGAAGGATGGAGGAG GGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGGAG GGGGTGAAGGATGAGGGAGGGGGGTGAAGGATGGGGGAGGGGGTGAAGGA TGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGGG GCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGG TGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGG GGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
RAB40C_chr16_585066_634268	619268	G G	GCAGGTGT others(360): Show GCAGGTGTGGTGTACTTGGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGC ACTCGGCCATGTGTATGTGCAGGCATGTGCACAGGTCTGGCGGGGGCACT GGGGCCATGTGTGCAGTGTGTGCGCAGGTGTGGTGTACTTGGAGCTGTGT GTGTGCACAGGTGTAGTGGGTGCACTCAGGGCCATGTGTGTGCAGGCATG TGCACAGGTCTGGCGGACGCACTGGGGCCATGTGTGCAGTGTGTGCAGGT GTGGTGTACTTGGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCGG CCATGTGTGTGTGCAGGCATGTGCACAGGTCTGGCGGGGGCACTGGGGCC ATGTGTGCAGTGTGTGCT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	350	0.0029	367	c.264 others(384): Show c.264+1061_264+1062insGGCCATGTGTATGTGCAGGCATGTGCAC AGGTCTGGCGGGGGCACTGGGGCCATGTGTGCAGTGTGTGCGCAGGTGTG GTGTACTTGGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCAGGGC CATGTGTGTGCAGGCATGTGCACAGGTCTGGCGGACGCACTGGGGCCATG TGTGCAGTGTGTGCAGGTGTGGTGTACTTGGAGCTGTGTGTGTGCACAGG TGTAGTGGGTGCACTCGGCCATGTGTGTGTGCAGGCATGTGCACAGGTCT GGCGGGGGCACTGGGGCCATGTGTGCAGTGTGTGCTCAGGTGTGGTGTAC TTGGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGCG others(360): Show CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18945.hp1 HG01099.hp1 NA18945.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0020c0034 a0001c0001 a0020c0034	a0001c0001t0001 a0020c0034t0001 a0001c0001t0001 a0020c0034t0001	a0001c0001t0001g0099 a0020c0034t0001g0100 a0001c0001t0001g0099 a0020c0034t0001g0100	2	412	0.0049	367	c.205 others(382): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar

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