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
MYL2_chr12_110905845_110925579	110905933	A A	ATATATAA others(283): Show ATATATAATATATATTTTATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATATAATATATATTATATAAAATATATAT TATATATAATATATATTATATAAAATATATATTATATTATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATATAATATATATTATATAAAATATATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	322	0.0031	290	c.51 others(301): Show c.5143_*5144insTAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATATATTTTATATAATATATATTATAT ATAATATATATTTTATATAATATATATTATATATAATATAATATATATTT TATATAATATATATTATATAATATAATATATATTTTATATAATATATATT ATATATAATATATATTTTATATAATATATATTATATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATAAAATATATAT TATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4911		chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGATGGT others(283): Show GTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGT AATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	4	0.2500	290	c.160 others(307): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACTACTGCCAC CGCCGCCACCATCACCACCACCACCATCACCACCACCACCATCACCACCA TCACCACCATCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(283): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGT AATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp1 HG02896.hp2 others(2): Show HG01891.hp1 HG02723.hp1 HG02896.hp2 HG03139.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0027 a0001c0001t0003 a0001c0001t0006 a0001c0001t0027	a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0006g0015 others(2): Show a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0006g0015 a0001c0001t0006g0018 a0001c0001t0027g0017	5	8	0.6250	290	c.160 others(307): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACTACTG CCACCGCCGCCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCAC CACCATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCACCA TCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(283): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTA GTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGAC CATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0003 a0001c0001t0030	a0001c0001t0003g0361 a0001c0001t0030g0365 a0001c0001t0003g0361 a0001c0001t0030g0365	2	5	0.4000	290	c.160 others(307): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCAGCAGCACTACCACTAC CACCACCATCATGGTCACCACCATCATTACCACTACCACCACGACTACCA CCACCACCACCACTACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCAC CACCATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCACCA TCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(283): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGT GGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGT AATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	4	0.2500	290	c.160 others(307): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACTACTGCCACCGC CGCCACCATCACCACCACCACCATCGCCGCCACCACCACCACCACCACCA TCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYO16_chr13_108624611_109213005	109023274	T T	TATATATA others(283): Show TATATATATTTATATATTATACAGATATAAATATATATTTATATATTATA CAGATATAAATATATATTTATATATTATACAGATATAAATATATATTTAT ATATTATACAGATATAAATATATATTTATATATTATACAGATATAAATAT ATATTTATATATTATACAGATATAAATATATATTTATATATTATACAGAT ATAAATATATATTTATATATTATACAGATATAAATATATATTTATATATT ATACAGATATAAATATATATTTATATATTATACAGATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0001 a0001c0067t0001	a0001c0067t0001g0037 a0001c0067t0001g0037	1	124	0.0081	290	c.279 others(309): Show c.2796+3400_2796+3401insTTATATATTATACAGATATAAATATA TATTTATATATTATACAGATATAAATATATATTTATATATTATACAGATA TAAATATATATTTATATATTATACAGATATAAATATATATTTATATATTA TACAGATATAAATATATATTTATATATTATACAGATATAAATATATATTT ATATATTATACAGATATAAATATATATTTATATATTATACAGATATAAAT ATATATTTATATATTATACAGATATAAATATATATTTATATATTATACAG ATATAAATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO7A_chr11_77123246_77220241	77193256	G G	GTGGTGGT others(283): Show GTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGA GGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGCTGTTGGTGATCG TGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTG GTGATGGTGGAGGTGGTGTTGGTGTTGGTGATGGTGGAGGTAGTGATGGT GTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACT GATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0153 a0003c0013t0001g0153	1	353	0.0028	290	c.415 others(309): Show c.4152+1019_4152+1020insATGGTGGAGGTAGTGATGGTGTTGGT GATGGTGGAGGTAGTGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGT TGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGTGATGGTGGAGGTGGTG TTGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGT AGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATT GGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGATGGTGGAGGTAG TGATGGTGTTGGTG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(283): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCC TCCCCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCT TCCCCTCCCCTCTCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCT TCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0200 a0001c0002t0002g0200	1	32	0.0313	290	c.289 others(307): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCC CCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCCC CCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCTTCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTCCC CCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCC CTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(283): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAGGGAG GAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGAGGGA GGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAGG GAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAGAGGA GGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0228 a0001c0005t0002g0228	1	7	0.1429	290	c.887 others(307): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCC TTCCTCTTCCCTCCTTCCCTCCCTCTCTCTTCCCTCCCTCCTCCCTCCCT CTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCAPG2_chr7_158626169_158709804	158667978	C C	CGCCCTCC others(283): Show CGCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGG TCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCA CTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCC CTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCC TCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	372	0.0027	290	c.148 others(309): Show c.1480-3229_1480-3228insAGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGG GTAAGGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGC AGAGGGACCCAGTAGTGGGTAACGGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAGGG TAGGTAAGGAGGGC	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFB1_chr14_92111123_92126706	92120589	G G	GTCCGCCC others(283): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTCTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGA GTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCT ACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	177	0.0056	290	c.-6+ others(305): Show c.-6+1052_-6+1053insTCACGAGGTCAGGAGATCAAGACCATCCTG GCTAACATGGTAGAAACCCTGTGTCTACTAAAAATACAAAAAAAATTAGC TGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTG CGCCACTGCACTCCAGCCTGGGCCACAGAGAGAAAAAAAAAAAAAAAAAG AGCCGGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTA GGCGGGCGGA	NDUFB1	ENSG00000183648.11	transcript	ENST00000605997.6	protein_coding	1/2			chr14	TogoVar
NDUFB1_chr14_92111123_92126706	92120589	G G	GTCCGCCC others(283): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTCTTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGG AGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCA CCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTC ACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02165.hp1 HG02523.hp1 others(36): Show HG00408.hp1 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG02738.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp2 NA18612.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp2 NA18989.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19067.hp1 NA19074.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19089.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0083 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087	39	215	0.1814	290	c.-6+ others(305): Show c.-6+1052_-6+1053insTCACGAGGTCAGGAGATCAAGACCATCCTG GCTAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAAAAATTAGCT GGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGC GCCACTGCACTCCAGCCTGGGCCACAGAGAGAAAAAAAAAAAAAAAAAAG AGCCGGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTA GGCGGGCGGA	NDUFB1	ENSG00000183648.11	transcript	ENST00000605997.6	protein_coding	1/2			chr14	TogoVar
NDUFB1_chr14_92111123_92126706	92120589	G G	GTCCGCCC others(283): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTCTTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGG AGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTC ACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG01934.hp2 HG02895.hp1 HG02897.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0001g0060	4	180	0.0222	290	c.-6+ others(305): Show c.-6+1052_-6+1053insTCACGAGGTCAGGAGATCAAGACCATCCTG GCTAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAAAAATTAGCT GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGC GCCACTGCACTCCAGCCTGGGCCACAGAGAGAAAAAAAAAAAAAAAAAAG AGCCGGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTA GGCGGGCGGA	NDUFB1	ENSG00000183648.11	transcript	ENST00000605997.6	protein_coding	1/2			chr14	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(283): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp2 HG02896.hp1 HG01109.hp1 HG02818.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0201	3	255	0.0118	290	c.373 others(307): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG TCTAGTTCTCTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFILZ_chr19_8625633_8686151	8663415	G G	GTGGGGAA others(283): Show GTGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCAT GAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGA ACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGA GGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGACGCTGGT GGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGG GCGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	273	0.0037	290	c.-16 others(311): Show c.-163-10991_-163-10990insGGGAGGGGTGGAACTGCCATGAAC TGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGAACTG CCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGAGGGG TGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTG GGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGACGC TGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGA GGGGGCGCTGGTGGTG	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663415	G G	GTGGGGAA others(283): Show GTGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCAT GAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGA ACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGA GGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGAGCTGGT GGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGG GCGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00673.hp1 others(7): Show HG00280.hp2 HG00323.hp2 HG00673.hp1 HG01515.hp2 HG01517.hp1 HG02071.hp2 HG02080.hp1 HG02683.hp2 HG02738.hp1 NA18950.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0143 a0002c0002t0002 a0002c0002t0013 a0003c0003t0012 a0003c0003t0018	a0001c0001t0001g0253 a0001c0001t0010g0266 a0001c0001t0014g0074 others(7): Show a0001c0001t0001g0253 a0001c0001t0010g0266 a0001c0001t0014g0074 a0001c0001t0019g0075 a0001c0001t0143g0078 a0002c0002t0002g0094 a0002c0002t0013g0220 a0003c0003t0012g0335 a0003c0003t0018g0090 a0003c0003t0018g0247	10	282	0.0355	290	c.-16 others(311): Show c.-163-10991_-163-10990insGGGAGGGGTGGAACTGCCATGAAC TGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTG CCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGAGGGG TGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTG GGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGACGC TGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGA GGGGGCGCTGGTGGTG	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663415	G G	GTGGGGAA others(283): Show GTGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCAT GAACTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGA ACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGA GGGGTGGAACTGCCATGAACTGAGGTGGGGAAGGTGGAGGGGGAGCTGGT GGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGG GCGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0242 a0002c0002t0013g0242	1	273	0.0037	290	c.-16 others(311): Show c.-163-11061_-163-11060insGAGCTGGTGGTGGGGAGGGGTGGA ACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGA GGGGTGGAACTGCCATGAACTGAGGTGGGGAAGGTGGAGGGGGAGCTGGT GGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGG GCGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGG TGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGAT GGGGAAGGTGGAGGGG	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663434	A A	AGCTGGTG others(283): Show AGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGT GGAGGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATG GGGAAGGTGGAGGGGGCGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAA CTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGAGGGGTGGAACT GCCATGAACTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGG GTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0129 a0001c0001t0142g0129	1	318	0.0031	290	c.-16 others(311): Show c.-163-10991_-163-10990insGGGAGGGGTGGAACTGCCATGAAC TGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGAGGGGTGGAACTG CCATGAACTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGG TGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTG GGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGACGC TGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGA GGGGGCGCTGGTGGTG	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGTGT others(283): Show GGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	311	0.0032	290	c.91+ others(303): Show c.91+393_91+394insGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPTN_chr15_73555014_73638389	73580411	A A	ATATATAT others(283): Show ATATATATATAATATATATTATATATATTATATATATAATATATATATAA TATATATTATATATATTATATATATAATATATATAATATATATATAATAT ATATTATATATATTATATATAATATATATATAATATATATTATATATATT ATATATATAATATATATTATAATATATATTATATATTATATATATAATAT ATATATAATATATATTATATATATTATATATATAATATATATAATATATA TATTATATATATAATATATATATAATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	337	0.0030	290	c.707 others(307): Show c.707-6617_707-6616insATATATATAATATATATTATATATATAT TATATATATAATATATATATTATATATATTATATATATAATATATATAAT ATATATTATATATATATTATATATATAATATATAATATATATTATAATAT ATATTATATATATAATATATATAATATATATTATATATATATTATATATA ATATATATAATATATATTATATATATATTATATATATTATATATATAATA TATATAATATATATTATATATATATTATATATATAATATATATAATATAT ATTATATATATA	NPTN	ENSG00000156642.17	transcript	ENST00000345330.9	protein_coding	4/8			chr15	TogoVar
NQO1_chr16_69704401_69731560	69728986	T T	TTTTTTCT others(283): Show TTTTTTCTTTTATTGAGTCCACCACTGCGGCCTTGAATTCCTGGGCTCAA GCGATCTTTTTGCCTCAGATCCTGAGTAGCTGGGACACAGGCGCCTGCCA CCACGCCTGGCTGCTGGCCACATTTCCAGTGCTCAATAGCTACTTGAAGC TTGTGGCTACCTTACTTGGGCAGCACAGATAGGGAAAGTTCTATTGGACA GGGCTGCCTACCTAGCCCTTTTTTAAAACGTCCTTTTATACTATTTTGTC AGATGGGGTCTCACTTTGTTGCTCAGGCTTTTCTCAAACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(152): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0213 a0001c0001t0002g0030 a0001c0001t0004g0020 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0005g0046 a0001c0001t0005g0170 a0001c0001t0007g0054 a0001c0001t0012g0181 a0001c0001t0013g0062 a0001c0004t0001g0076	155	442	0.3507	290	c.-25 others(301): Show c.-2548_-2547insGAGTTTGAGAAAAGCCTGAGCAACAAAGTGAGAC CCCATCTGACAAAATAGTATAAAAGGACGTTTTAAAAAAGGGCTAGGTAG GCAGCCCTGTCCAATAGAACTTTCCCTATCTGTGCTGCCCAAGTAAGGTA GCCACAAGCTTCAAGTAGCTATTGAGCACTGGAAATGTGGCCAGCAGCCA GGCGTGGTGGCAGGCGCCTGTGTCCCAGCTACTCAGGATCTGAGGCAAAA AGATCGCTTGAGCCCAGGAATTCAAGGCCGCAGTGGTGGACTCAATAAAA GAAAAA	NQO1	ENSG00000181019.13	transcript	ENST00000320623.10	protein_coding		2427		chr16	TogoVar
NRAP_chr10_113583714_113669041	113647577	T T	TGGTGGTA others(283): Show TGGTGGTACTGTCTCCCCCAGTGGTACTGCCTCCCCCAGTGGTACTGCCT CCCCCGGTGGTACTGCCTCCCCTGGTGGTACTGCCTCCCCCGGTGGTACT GTCTCCCCCGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCCGGTG GTACTGCCTCCCCCGGTGGTACTGTCTCCCCCGGTGGTACTGTCTCCCCC GGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCCGGTGGTACTGCCT CCCCTAGTGGTACTGTCTCCCCCGGTGGTACTGTCTCCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0104 a0005c0005t0001g0104	1	283	0.0035	290	c.889 others(305): Show c.889-551_889-550insGGGGGAGACAGTACCACCGGGGGAGACAGT ACCACTAGGGGAGGCAGTACCACCGGGGGGAGACAGTACCACTAGGGGAG GAAGTACCACCGGGGGAGACAGTACCACCGGGGGAGACAGTACCACCGGG GGAGGCAGTACCACCGGGGGGAGACAGTACCACTAGGGGAGGAAGTACCA CCGGGGGAGACAGTACCACCGGGGGAGGCAGTACCACCAGGGGAGGCAGT ACCACCGGGGGAGGCAGTACCACTGGGGGAGGCAGTACCACTGGGGGAGA CAGTACCACC	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41			chr10	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(283): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTTCCCCTCC CCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTC CCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	30	0.0333	290	c.433 others(307): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGGGG AAGGGGGAGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGG GGAAGGGGAAGGGGGAGGGGAAGGGGAAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(283): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02897.hp1 HG02698.hp1 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0008 a0003c0003t0003 a0003c0003t0008	a0003c0003t0003g0183 a0003c0003t0008g0040 a0003c0003t0003g0183 a0003c0003t0008g0040	2	314	0.0064	290	c.-30 others(301): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTT TAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(283): Show TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATAGT TATATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGT TATATAACTATATAAAATATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	342	0.0029	290	c.489 others(307): Show c.489+2759_489+2760insATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATAAAATATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATA TAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATA AAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATA AAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATAAAATA others(283): Show ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATAT AAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAA AATATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01361.hp1 HG01517.hp2 others(1): Show HG00642.hp1 HG01361.hp1 HG01517.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0073 a0001c0002t0001g0172 a0001c0002t0001g0001 a0001c0002t0001g0073 a0001c0002t0001g0172	4	275	0.0145	290	c.489 others(307): Show c.489+2818_489+2819insAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA GTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATATA GTTATGTAACTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(283): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	240	0.0042	290	c.-20 others(299): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(283): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	240	0.0042	290	c.-20 others(299): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(283): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACATATATC ATAATATATATTATCATATTATGACATATATCATAATATATATTATCATA TTATGACATATATCATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(40): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG01069.hp2 HG01106.hp1 HG01175.hp2 HG01346.hp2 HG01515.hp1 HG02055.hp1 HG02080.hp2 HG02622.hp2 HG02970.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18953.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18983.hp2 NA18988.hp1 NA18994.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(17): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0027 a0001c0001t0060 a0001c0001t0070 a0001c0001t0079 a0002c0002t0001 a0002c0002t0007 a0002c0002t0023 a0002c0002t0026 a0002c0002t0061 a0002c0002t0062 a0002c0002t0066 a0002c0002t0071 a0002c0002t0073 a0002c0002t0085 a0002c0002t0101	a0001c0001t0001g0025 a0001c0001t0001g0068 a0001c0001t0001g0089 others(40): Show a0001c0001t0001g0025 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0006g0067 a0001c0001t0006g0170 a0001c0001t0013g0088 a0001c0001t0014g0078 a0001c0001t0014g0079 a0001c0001t0014g0102 a0001c0001t0025g0049 a0001c0001t0025g0069 a0001c0001t0027g0104 a0001c0001t0060g0196 a0001c0001t0070g0151 a0001c0001t0079g0071 a0002c0002t0001g0043 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0109 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0162 a0002c0002t0001g0173 a0002c0002t0001g0261 a0002c0002t0007g0077 a0002c0002t0007g0230 a0002c0002t0007g0232 a0002c0002t0007g0234 a0002c0002t0007g0235 a0002c0002t0007g0236 a0002c0002t0023g0033 a0002c0002t0026g0086 a0002c0002t0061g0044 a0002c0002t0062g0124 a0002c0002t0066g0108 a0002c0002t0071g0073 a0002c0002t0073g0157 a0002c0002t0085g0082 a0002c0002t0101g0233	43	100	0.4300	290	c.116 others(309): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATATCATAATATATATTATCATATTATGACATATAT CATAATATATATTATCATATTATGACATATATCATAATATATATTATCAT ATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(283): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGAG CCCCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCCCCTGAGGACAGGA GCCGCCCTGAGGACTAGAGCCCCCTGAGGACTGGAGCACCCTGAGGACTG GAGCCGCCTGAGGACTGGAACCCCCTGAGCACTGGAGCCCCCTGAGGACT GGAGCCACCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGAC TGGATACCCCTGAGGATTGGAGCCACCTGAGGACTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0005 a0008c0025t0005	a0008c0025t0005g0113 a0008c0025t0005g0113	1	166	0.0060	290	c.-37 others(301): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGTGCTCCAGTCCTCAGGGGGCTCTAGTCCTCA GGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCTCAGGGGGTTCCAGTCCT CAGGGGGCTCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCAGTCC TCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(283): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGAG CCCCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCCCCTGAGGACAGGA GCCGCCCTGAGGACTAGAGCCCCCTGAGGACTGGAGCCCCCTGAGGACTG GAGCCGCCTGAGGACTGGAACCCCCTGAGCACTGGAGCCCCCTGAGGACT GGAGCCACCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGAC TGGATACCCCTGAGGATTGGAGCCACCTGAGGACTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG01884.hp2 others(19): Show HG01261.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA18959.hp1 NA19030.hp1 NA19240.hp1	a0004 a0005 a0007 others(2): Show a0004 a0005 a0007 a0008 a0020	a0004c0007 a0005c0004 a0007c0006 others(2): Show a0004c0007 a0005c0004 a0007c0006 a0008c0010 a0020c0030	a0004c0007t0004 a0005c0004t0004 a0005c0004t0025 others(5): Show a0004c0007t0004 a0005c0004t0004 a0005c0004t0025 a0007c0006t0004 a0007c0006t0027 a0007c0006t0029 a0008c0010t0005 a0020c0030t0004	a0004c0007t0004g0014 a0004c0007t0004g0018 a0004c0007t0004g0057 others(12): Show a0004c0007t0004g0014 a0004c0007t0004g0018 a0004c0007t0004g0057 a0005c0004t0004g0023 a0005c0004t0025g0056 a0007c0006t0004g0028 a0007c0006t0004g0063 a0007c0006t0027g0065 a0007c0006t0029g0066 a0008c0010t0005g0021 a0008c0010t0005g0040 a0008c0010t0005g0069 a0008c0010t0005g0111 a0008c0010t0005g0114 a0020c0030t0004g0068	22	187	0.1176	290	c.-37 others(301): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCTAGTCCTCA GGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCTCAGGGGGTTCCAGTCCT CAGGGGGCTCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCAGTCC TCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(283): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGAG CCCCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCCCCTGAGGACAGGA GCCGCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCCCCTGAGGACTG GAGCCGCCTGAGGACTGGAACCCCCTGAGCACTGGAGCCCCCTGAGGACT GGAGCCACCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGAC TGGATACCCCTGAGGATTGGAGCCACCTGAGGACTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02647.hp1 others(6): Show HG02258.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1	a0007 a0009 a0007 a0009	a0007c0006 a0009c0011 a0007c0006 a0009c0011	a0007c0006t0013 a0009c0011t0007 a0007c0006t0013 a0009c0011t0007	a0007c0006t0013g0027 a0009c0011t0007g0008 a0007c0006t0013g0027 a0009c0011t0007g0008	9	174	0.0517	290	c.-37 others(301): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCA GGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCTCAGGGGGTTCCAGTCCT CAGGGGGCTCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCAGTCC TCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(283): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGAG CCCCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCCCCTGAGGACAGGA GCCGCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCCCCTGAGGACTG GAGCCGCCTGAGGACTGGAACCCCCTGAGCACTGGAGCCCCCTGAGGACT GGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGAC TGGATACCCCTGAGGATTGGAGCCACCTGAGGACTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0007 a0009c0011t0007	a0009c0011t0007g0008 a0009c0011t0007g0008	1	166	0.0060	290	c.-37 others(301): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG CGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCA GGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCTCAGGGGGTTCCAGTCCT CAGGGGGCTCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCAGTCC TCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CCCCTGAG others(283): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGAG CCCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCCCCTGAGGACAGGA GCCGCCCTGAGGACTAGAGCCCCCTGAGGACTGGAGCCCCCTGAGGACTG GAGCCGCCTGAGGACTGGAACCCCCTGAGCACTGGAGCCCCCTGAGGACT GGAGCCACCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGAC TGGATACCCCTGAGGATTGGAGCCACCTGAGGACTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0018 a0014c0015t0018	a0014c0015t0018g0117 a0014c0015t0018g0117	1	166	0.0060	290	c.-37 others(301): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG TGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCTAGTCCTCA GGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCCAGTCCT CAGGGGGCTCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCAGTCC TCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
PAK2_chr3_196734857_196837647	196811266	T T	TTCCCTTC others(283): Show TTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCT CCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCC CTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCC TTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03927.hp1 HG01169.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0002g0096 a0001c0001t0002g0114	2	156	0.0128	290	c.773 others(305): Show c.773+627_773+628insCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCT ACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCC CCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCC TTTCCTTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTCCCTCCC TTCCCTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811266	T T	TTCCCTTC others(283): Show TTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCT CCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCC CTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCC TTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	155	0.0065	290	c.773 others(305): Show c.773+630_773+631insTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACC CTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCT CCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTT CCTTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTCCCTCCCTTC CCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK5_chr20_9532370_9844076	9660319	T T	TAAGATTA others(283): Show TAAGATTATTTTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01516.hp2 NA18948.hp2 others(2): Show HG00609.hp1 HG01516.hp2 NA18948.hp2 NA18954.hp2 NA18967.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0005 a0002c0001t0014 a0003c0003t0003 others(1): Show a0002c0001t0005 a0002c0001t0014 a0003c0003t0003 a0003c0003t0012	a0002c0001t0005g0060 a0002c0001t0014g0074 a0003c0003t0003g0112 others(2): Show a0002c0001t0005g0060 a0002c0001t0014g0074 a0003c0003t0003g0112 a0003c0003t0012g0035 a0003c0003t0012g0083	5	175	0.0286	290	c.-11 others(309): Show c.-11-15981_-11-15980insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTAAAATAATCTT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	2/9			chr20	TogoVar
PCDH9_chr13_66297834_67235336	66429055	A A	AGCACATG others(283): Show AGCACATGCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAAT TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	41	0.0244	290	c.334 others(313): Show c.3341-124028_3341-124027insAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAACTGCATGTGC	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	4/4			chr13	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(283): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	50	0.0200	290	c.129 others(307): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(283): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGAT AAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAA TTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	5	0.2000	290	c.161 others(307): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGGTGGGTGGGCGGGCCAATGGTAGTTGGATG GTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTT GGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACTAG others(283): Show TAGACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAGACTAG ACACTAGACTAGACTAGACACTAGACTAGACTATAGACTAGACACTAGAC TAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACTATAGACTA GACACTAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGA CTATAGACTAGACTATAGACTAGACTATACTACACTACACTACACTACAC TACACTACACTACACTACACTAACTAAACACACAACACTAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19004.hp2 NA19084.hp2 others(1): Show HG02056.hp2 NA19004.hp2 NA19084.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0014 a0002c0002t0009 a0002c0002t0014	a0002c0002t0009g0303 a0002c0002t0009g0304 a0002c0002t0009g0305 others(1): Show a0002c0002t0009g0303 a0002c0002t0009g0304 a0002c0002t0009g0305 a0002c0002t0014g0302	4	270	0.0148	290	c.847 others(305): Show c.847-209_847-208insGACTAGACGACTAGACTAGACTCTAGACTA GACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACT ATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACACT AGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAG ACTAGACACTAGACTAGACTATAGACTAGACTATAGACTAGACTATACTA CACTACACTACACTACACTACACTACACTACACTACACTAACTAAACACA CAACACTAAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACTAG others(283): Show TAGACTAGACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAG ACTAGACACTAGACTAGACTAGACACTAGACTAGACTATAGACTAGACAC TAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACTATA GACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACACTAGA CTAGACTATAGACTAGACTATAGACTAGACTATACTACACTACACTACAC TACACTACACTACACTACACTAACTAAACACACAACACTAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG02965.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0089 a0001c0001t0001g0059 a0001c0001t0001g0089	2	268	0.0075	290	c.847 others(305): Show c.847-209_847-208insGACTAGACTAGACGACTAGACTAGACTCTA GACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACT AGACTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAG ACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGAC TATAGACTAGACACTAGACTAGACTATAGACTAGACTATAGACTAGACTA TACTACACTACACTACACTACACTACACTACACTACACTAACTAAACACA CAACACTAAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718361	T T	TGTCCTGG others(283): Show TGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGGGGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG TGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGGTCCTGGGTGGGG GGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT CCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT GGGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0056 a0001c0001t0008g0056	1	388	0.0026	290	c.719 others(305): Show c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGG GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT GCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGGTCCTGG GTGGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGG GGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTG CGTGCTGGGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC CTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718452	G G	GGTCCTGG others(283): Show GGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG GTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGG GGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGG TCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCT GGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01515.hp2 others(1): Show HG00099.hp2 HG01099.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0098 a0001c0001t0005g0023 a0001c0001t0005g0098	4	356	0.0112	290	c.719 others(305): Show c.719+345_719+346insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG TGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGT GGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTG CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTC CTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCG others(283): Show TGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCC GCACTGCCATCGCCACCCTGACTGCCATCGCCACCCACACTGCCATCCCC ACCCGCACTGCCATCGCCACCCTGACTGCCATCGCCACCCACAATGCCAT CCCCACCCGCACTGCCATCGCCACCCTGCCATCGCCACCCACAATGCCAT CCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCCCCACCCGCACTG CCATCGCCACCCGCACTGCCATCGCCACCCACACTGCCATC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp1 HG03579.hp1 others(1): Show HG02970.hp2 HG03130.hp1 HG03579.hp1 HG03579.hp2	a0001 a0015 a0001 a0015	a0001c0004 a0015c0031 a0001c0004 a0015c0031	a0001c0004t0002 a0001c0004t0009 a0001c0004t0013 others(1): Show a0001c0004t0002 a0001c0004t0009 a0001c0004t0013 a0015c0031t0009	a0001c0004t0002g0047 a0001c0004t0009g0045 a0001c0004t0013g0049 others(1): Show a0001c0004t0002g0047 a0001c0004t0009g0045 a0001c0004t0013g0049 a0015c0031t0009g0044	4	18	0.2222	290	c.122 others(305): Show c.122-669_122-668insGATGGCAGTGTGGGTGGCGATGGCAGTGCG GGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCGGGTGGCGATGGCAG TGCGGGTGGGGATGGCATTGTGGGTGGCGATGGCAGGGTGGCGATGGCAG TGCGGGTGGGGATGGCATTGTGGGTGGCGATGGCAGTCAGGGTGGCGATG GCAGTGCGGGTGGGGATGGCAGTGTGGGTGGCGATGGCAGTCAGGGTGGC GATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGG TGGCGATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PIK3C2G_chr12_18256518_18653416	18598681	C C	CAAAAGAA others(283): Show CAAAAGAAACTACCATCAGACACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTC CCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCG GAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACA GAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG03491.hp2 others(1): Show HG01515.hp1 HG01517.hp1 HG03491.hp2 NA18955.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0007 a0003c0003 a0006c0007	a0003c0003t0001 a0003c0003t0006 a0006c0007t0002 a0003c0003t0001 a0003c0003t0006 a0006c0007t0002	a0003c0003t0001g0023 a0003c0003t0006g0035 a0006c0007t0002g0004 others(1): Show a0003c0003t0001g0023 a0003c0003t0006g0035 a0006c0007t0002g0004 a0006c0007t0002g0005	4	145	0.0276	290	c.408 others(309): Show c.4087+4131_4087+4132insCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGT AGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGA GGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGC GACAGAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAACTACCATCAGA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PINX1_chr8_10759961_10844875	10781958	T T	TAAAGAAA others(283): Show TAAAGAAACTGTGGTGTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG04115.hp1 others(1): Show HG03490.hp2 HG03492.hp1 HG04115.hp1 NA20905.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0087 a0001c0006t0001g0001 a0001c0006t0001g0087	4	345	0.0116	290	c.472 others(309): Show c.472-16043_472-16042insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCAC ACCACAGTTTCTTT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PKP3_chr11_389209_409908	398584	C C	CTACCCCC others(283): Show CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCGCACACACCT GCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	192	0.0052	290	c.106 others(307): Show c.1069-380_1069-379insGTACCCCCGCACACACCTGCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCATCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCATACCCCCGCACACACC TGCGTCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398642	C C	CTACCCCC others(283): Show CTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT GCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0093 a0001c0008t0001g0093	1	159	0.0063	290	c.106 others(307): Show c.1069-333_1069-332insCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCG TACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG1_chr6_150594885_150848665	150706458	T T	TAGCTCAC others(283): Show TAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTC GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp2 HG02083.hp1 others(14): Show HG00544.hp2 HG01070.hp2 HG02083.hp1 HG02273.hp1 HG02293.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG04228.hp2 NA18945.hp1 NA18962.hp2 NA19003.hp2 NA19065.hp1 NA19083.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0003c0011 a0004c0015 a0005c0014	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0008 a0001c0007t0003 a0001c0008t0028 a0003c0011t0002 a0004c0015t0007 a0005c0014t0015	a0001c0001t0001g0052 a0001c0002t0001g0007 a0001c0003t0001g0100 others(14): Show a0001c0001t0001g0052 a0001c0002t0001g0007 a0001c0003t0001g0100 a0001c0003t0002g0086 a0001c0004t0008g0094 a0001c0004t0008g0101 a0001c0007t0003g0013 a0001c0007t0003g0071 a0001c0007t0003g0127 a0001c0007t0003g0130 a0001c0007t0003g0261 a0001c0007t0003g0262 a0001c0007t0003g0264 a0001c0008t0028g0200 a0003c0011t0002g0023 a0004c0015t0007g0256 a0005c0014t0015g0075	17	258	0.0659	290	c.-98 others(309): Show c.-98-27125_-98-27124insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr6	TogoVar

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