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
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(429): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	390	0.0026	436	c.112 others(453): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(429): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00609.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	390	0.0051	436	c.112 others(453): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(429): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	390	0.0026	436	c.112 others(453): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT ATATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
MGAT4C_chr12_85950667_86261391	86110302	A A	ATATAGTC others(429): Show ATATAGTCTATATATATATATAGTCTATATATATATAGACTATATATATA TAGACTATATATATAGTCTATATATATATAGTCTATATATATATATAGTC TATATATATATAGTCTATATATATATATAGTCTATATATATAGACTATAT ATATATAGACTATATATATAGACTATATGTATATATGTATATATAGAGAG AGAGACTATATACAGAGAGAGAGACTATATATATATATATAGACTATATA TATATAGACTATATATATATAGACTATATATATATAGACTATATATATAG ACTATATATATAGACTATATATATATATAGACTATATATATATAGACTAT ATATATATATAGACTATATATATATAGACTATATATATAGTCTATATATA TATAGTCTATATATATATAGTCTATATATATATAGTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0175 a0001c0002t0047g0175	1	186	0.0054	436	c.-56 others(455): Show c.-56-60580_-56-60579insGACTATATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATAGTCTATATATATATAGTC TATATATATATATAGTCTATATATATATAGTCTATATATATATATAGTCT ATATATATAGTCTATATATATAGTCTATATATATATAGTCTATATATATA TAGTCTATATATATATAGTCTATATATATATATATAGTCTCTCTCTCTGT ATATAGTCTCTCTCTCTATATATACATATATACATATAGTCTATATATAT AGTCTATATATATATAGTCTATATATATAGACTATATATATATATAGACT ATATATATATAGACTATATATATATATAGACTATATATATATAGACTATA TATATAGTCTATATATATATAGTCTATATATATATAGACTATATATATAT ATAGACTATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(429): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGATGATGATGGTGATAATAATGGGGATGATGGTGATGGTGATTATGG TGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATG ATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAGGGTG ATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGTG ATGATGATGATTGCGATAGTGGTGATGATGGTGATGATGATGGTTGTGGT GATGGTGGTGGTGTGATGACGGTGAGGGTAGTGATGGTGATAATGATGGT GATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGATAATGATGGT GATGATGGTGGTGATGCTGATGGTGATGATGATGATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	250	0.0040	436	c.632 others(451): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGATGATGATGGTGATAATAATGGGGATGATGGT GATGGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGG TGATGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGA CAATGATGAGGGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGG TGATGGTGATGGTGATGATGATGATTGCGATAGTGGTGATGATGGTGATG ATGATGGTTGTGGTGATGGTGGTGGTGTGATGACGGTGAGGGTAGTGATG GTGATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATA GTGATAATGATGGTGATGATGGTGGTGATGCTGATGGTGATGATGATGAT AGTGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(429): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGATGATGATGGTGATAATAATGGGGATGATGGTGATGGTGATTATGG TGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATG ATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAGGGTG ATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGTG ATGATGATGATTGCGATAGTGGTGATGATGGTGATGATGATGGTTGTGGT GATGGTGGTGGTGTGATTATGGTGAGGGTAGTGATGGTGATAATGATGGT GATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGATAATGATGGT GATGATGGTGGTGATGCTGATGGTGATGATGATGATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(50): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01981.hp2 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02165.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18950.hp1 NA18961.hp1 NA18964.hp2 NA18968.hp1 NA18981.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0028 a0001c0004t0022 a0001c0005t0001 a0001c0005t0004	a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0053 others(50): Show a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0116 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0178 a0001c0001t0001g0201 a0001c0001t0001g0215 a0001c0001t0002g0176 a0001c0001t0007g0185 a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0087 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0133 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0164 a0001c0002t0002g0071 a0001c0002t0002g0110 a0001c0002t0003g0062 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0080 a0001c0002t0003g0081 a0001c0002t0003g0184 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0249 a0001c0002t0004g0045 a0001c0002t0008g0102 a0001c0002t0012g0048 a0001c0002t0013g0075 a0001c0002t0028g0090 a0001c0004t0022g0213 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0082 a0001c0005t0004g0019	53	250	0.2120	436	c.632 others(451): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGATGATGATGGTGATAATAATGGGGATGATGGT GATGGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGG TGATGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGA CAATGATGAGGGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGG TGATGGTGATGGTGATGATGATGATTGCGATAGTGGTGATGATGGTGATG ATGATGGTTGTGGTGATGGTGGTGGTGTGATTATGGTGAGGGTAGTGATG GTGATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATA GTGATAATGATGGTGATGATGGTGGTGATGCTGATGGTGATGATGATGAT AGTGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(429): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGATGATGATGGTGATAATAATGGGGATGATGGTGATGGTGATTATGG TGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATG ATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAGGGTG ATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGTG ATGATGATGATTGCGATGGTGGTGATGATGGTGATGATGATGGTTGTCGT GATGGTGGTGGTGTGATGACGGTGAGGGTAGTGATGGTGATAATGATGGT GATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGATAATGATGGT GATGATGGTGGTGATGCTGATGGTGATGATGATGATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02451.hp1 others(7): Show HG01243.hp2 HG02109.hp2 HG02451.hp1 HG02630.hp2 HG02738.hp2 HG02818.hp2 HG03098.hp1 HG03704.hp2 NA18906.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0003g0223 others(7): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0003g0223 a0001c0001t0004g0007 a0001c0001t0005g0010 a0001c0001t0013g0117 a0001c0002t0002g0211 a0001c0002t0003g0079 a0001c0002t0005g0027 a0001c0002t0016g0101	10	250	0.0400	436	c.632 others(451): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGATGATGATGGTGATAATAATGGGGATGATGGT GATGGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGG TGATGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGA CAATGATGAGGGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGG TGATGGTGATGGTGATGATGATGATTGCGATGGTGGTGATGATGGTGATG ATGATGGTTGTCGTGATGGTGGTGGTGTGATGACGGTGAGGGTAGTGATG GTGATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATA GTGATAATGATGGTGATGATGGTGGTGATGCTGATGGTGATGATGATGAT AGTGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(429): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGATGATGATGGTGATAATAATGGGGATGATGGTGATGGTGATTATGG TGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATG ATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAGGGTG ATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGTG ATGATGATGATTGCGATGGTGGTGATGATGGTGATGATGATGGTTGTGGT GATGGTGGTGGTGTGATTATGGTGAGGGTAGTGATGGTGATAATGATGGT GATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGATAATGATGGT GATGATGGTGGTGATGCTGATGGTGATGATGATGATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0032 a0001c0005t0002g0032	1	250	0.0040	436	c.632 others(451): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGATGATGATGGTGATAATAATGGGGATGATGGT GATGGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGG TGATGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGA CAATGATGAGGGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGG TGATGGTGATGGTGATGATGATGATTGCGATGGTGGTGATGATGGTGATG ATGATGGTTGTGGTGATGGTGGTGGTGTGATTATGGTGAGGGTAGTGATG GTGATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATA GTGATAATGATGGTGATGATGGTGGTGATGCTGATGGTGATGATGATGAT AGTGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499921	T T	TGGTGGTG others(429): Show TGGTGGTGGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGTAGTGGTGGTGAT GAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGA TGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCA GTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGT GGTGATGGGGGTGGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGATGGCG ATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGATGGCGATGGAGGTGGTGA TGGTGGTGGTGGAGGTGGTGGTGGTGATGGCGATGGA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0158 a0002c0011t0001g0158	1	250	0.0040	436	c.748 others(453): Show c.748+1578_748+1579insGGTGGTGGTGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGT GTAGTGGTGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGG GGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGG TGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTG GTGATGGTGGTGGTGGTGATGGGGGTGGGTGGTGGTGATGGTGGTGGAGG TGGTGGTGATGGCGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGATGGC GATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGCGATGG AGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH1_chr8_144143016_144266926	144202957	A A	AGGGGACC others(429): Show AGGGGACCACCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCCGCT GTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGGGGGGGAGCGCCCGCTGTC TGTGGAGGGGCGGGGGGGGGGAGCGCCCAATGTCTGTGGAGGGGCAGGGA AGGAAGCGCGGGCTCTCTGTGGAGGGGCTGGGAGAGGAGCGCCCGCTCTC TGTAGAGGGGCGGGGAGGGGACCACCCGCTGTCTGTGGAGGGGCGGGGGG GGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTC TCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTCTCTGTGGAGGGGCGGG GAGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0092 a0003c0003t0001g0092	1	140	0.0071	436	c.114 others(455): Show c.1141+2421_1141+2422insCCACCCGCTGTCTGTGGAGGGGCGGG GGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCG CTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGG GGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCAATG TCTGTGGAGGGGCAGGGAAGGAAGCGCGGGCTCTCTGTGGAGGGGCTGGG AGAGGAGCGCCCGCTCTCTGTAGAGGGGCGGGGAGGGGACCACCCGCTGT CTGTGGAGGGGCGGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGG GGGGGGGAGCGCCCGCTCTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGC TCTCTGTGGAGGGGCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGGGA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(429): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	436	c.18 others(447): Show c.1842_*1843insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGC ACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCC AGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACC AGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCA AATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCA GCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACC TCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCT AT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(429): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03579.hp2 HG03704.hp2 others(4): Show HG02109.hp2 HG03579.hp2 HG03704.hp2 HG03834.hp2 NA18983.hp1 NA19081.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0001 a0001c0001t0001g0016	7	364	0.0192	436	c.18 others(447): Show c.1842_*1843insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGC ACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCC AGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCACC AGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCA AATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCA GCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACC TCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCT AT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(429): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA19058.hp2 NA19079.hp1 HG00673.hp2 NA19058.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	364	0.0082	436	c.18 others(447): Show c.1842_*1843insATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGC ACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCC AGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCACC AGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCA AATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCA GCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACC TCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCT AT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(429): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	436	c.18 others(447): Show c.1842_*1843insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGC ACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCC AGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCACC AGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCA AATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCA GCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACC TCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCT AT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(429): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00609.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	364	0.0055	436	c.18 others(447): Show c.1840_*1841insATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAG CACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCC CAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCAC CAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCC AAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGC AGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCAC CTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCC TA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1745		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(429): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	364	0.0028	436	c.18 others(447): Show c.1840_*1841insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAG CACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCC CAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCAC CAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCC AAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGC AGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCAC CTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCC TA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1745		chr1	TogoVar
MYDGF_chr19_4652545_4675342	4663176	C C	CACAGCCT others(429): Show CACAGCCTCCAATCTACCCTCCCCATCCACCCCGTCCTCATTCTACAGCC TCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAA TCTACCCTCCCCATCCACCCCATCCTCATTCTACAGCCTCCAATCTACCC TCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCAC CCGTCCTGTCCTCATTCTACACAGCCTCCAATCTACCCTCCCCATCCACC CCATCCTCATTCTACAGCCTTCAATCTACCCTCCCCACCCACCCCATCCT CATTCTACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTA CACAGCCTCCAATCTACCCTCCCCATCCACCCCATCCTCATTCTACAGCC TTCAATCTACCCTCCCCACCCACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19005.hp2 HG02132.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0136 a0002c0002t0002g0128 a0002c0002t0002g0136	2	410	0.0049	436	c.287 others(453): Show c.287+1699_287+1700insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGAAGGCTGTAGAATGAGGATGGGGTGGATGGGGAGGGTAGATTG GAGGCTGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGC TGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGAAGGCTGTAGAA TGAGGATGGGGTGGATGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGG ACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGT GGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGATGGG GAGGGTAGATTGGAGGCTGTGTAGAATGAGGACAGGACGGGTGGGGAGGG TAGATTGGAGGCTGTAGAATGAGGACGGGGTGGATGGGGAGGGTAGATTG GAGGCTGT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(429): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATAATATATAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT AATATATATTATATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATAATATATATTTTATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	436	c.51 others(447): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATATAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATAATATATATTTTATATAATATATATTA TATATAATATAATATATATTTTATATAATATATATTATATATAATATAAT ATATATTATATATTATATATATTATATATAATATAATATATATTATATAT AATATATATTATATATAATATAATATATATTATATATAATATATATTATA TA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(429): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT AATATATATTATATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATAATATATATTTTATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	436	c.51 others(447): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATATAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATAATATATATTTTATATAATATATATTA TATATAATATAATATATATTTTATATAATATATATTATATATAATATAAT ATATATTTTATATAATATATATTATATATAATATAATATATATTATATAT AATATATATTATATATAATATAATATATATTATATATAATATATATTATA TA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(429): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT AATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATAATATATATTTTATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	436	c.51 others(447): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATAAAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATAATATATATTTTATATAATATATATTA TATATAATATAATATATATTTTATATAATATATATTATATATAATATAAT ATATATTATATATAATATATATTATATATAATATAATATATATTATATAT AATATATATTATATATAATATAATATATATTATATATAATATATATTATA TA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905919	A A	ATATAATA others(429): Show ATATAATATATATTATATATAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATAATATATATTATATAAAATATATATT ATATTATATATAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATAATATATATTATATAAAATATATATTATATTA TTATAATATATATTATATAAAATATATATTATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	368	0.0027	436	c.51 others(447): Show c.5157_*5158insATAATATAATATATATTTTATATAATATATATTA TAATAATATAATATATATTTTATATAATATATATTATATAATATAATATA TATTTTATATAATATATATTATATATAATATAATATATATTTTATAAAAT ATATATTATATAATATAATATATATTTTATAAAATATATATTATATATAA TATAATATATATTTTATATAATATATATTATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATAATATATATTATATATAATATATATTA TA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4925		chr12	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(429): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	350	0.0029	436	c.-28 others(447): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084638	T T	TCTATCGA others(429): Show TCTATCGATAGATAATACACATCTATGTATTATATATCGATAATACACAT CTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATAAT ACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATA TATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18990.hp2 NA18970.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0074 a0001c0002t0002g0075 a0001c0001t0001g0074 a0001c0002t0002g0075	2	170	0.0118	436	c.332 others(455): Show c.332+40367_332+40368insCTATCGATAGATAATACACATCTATG TATTATATATCGATAATACACATCTATGTATTATATATCGATAATACACA TCTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATAG ATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTA TTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAA TACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTAT ATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACA CATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATAT CGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATC TATGTATTAC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158667580	C C	CCTTACCC others(429): Show CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACAACTGGGTCCC TCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTA CCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCG CCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC GCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	378	0.0027	436	c.148 others(455): Show c.1480-2831_1480-2830insAGGGTGGAGGGCCACAGGGTAGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGCGGGCGGAGGGACCCAGT AGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(429): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC AACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCC TCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	378	0.0027	436	c.147 others(455): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGA GGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAG GTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(429): Show AATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGATATAATTTC TGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGG AGGATATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTT CTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGAGGTTGATA TAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTT CTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0008 a0001c0019t0008	a0001c0019t0008g0100 a0001c0019t0008g0100	1	364	0.0028	436	c.84 others(445): Show c.840_*841insATAATTTCTGGGGGAGGATATAATAATTTCTGGGGG AGGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATA TAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATAAAATTT CTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGATGATATAATAATTTCTGGGGGAA GTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT ATAATTTCTGGGGGAGGATATAATTTCTGGGGGAGGTTGATATAATTTCT GGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAG GTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NEU4_chr2_241804193_241822413	241805236	C C	CGCAGGCC others(429): Show CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGAGAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGAGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	319	0.0031	436	c.-40 others(447): Show c.-4042_-4041insGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAACCCAGAGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAACCCAGAGACCTCTGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3956		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8678158	C C	CATCCATC others(429): Show CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCACCCTTCCA TCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATTTGTC CATCCATCCATCCACCTATCCATCCAGCCGTCCATCTGTCCCGTCCGTCC GTCCATCCGTCCGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCC ATCCATTCCATCCATCCATCCGTCCATTCTTCCATCCATCCATTCATTAG TTTATCCATCCTCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TTCATCCACTTGTCCATCCACCCATCCGTCCATCCATCCTTCCATCCATT CATCCACTTGTCCATCCATCCATCCATCCATCCACCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0082 a0004c0004t0082	a0004c0004t0082g0024 a0004c0004t0082g0024	1	366	0.0027	436	c.55 others(445): Show c.554_*555insTATCCATCCACCCTTCCATCCATTCATCCACTTGTC CATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTA TCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCC ATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCA TCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTGTCCATC CACCCATCCGTCCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCA TCCATCCATCCATCCACCTATCCATCCATCCATCCATCCATCCATCCATC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	555	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232900746	T T	TCACATTC others(429): Show TCACATTCACACACACATGCTCTGTCACTCATATACACGTTCACTCACAT TCACTCACACACACGCTCTCACAGTCACTCATATACACGTTCACTCACAT TCACTTAGACACACGCTCTCACAGTCACTCATATACACGTTCACTCACAT TCACTCACACACACACTCTCACAGTCACTCATATACACGTTCACTCACAT TCACTCACACACACACTCTCACAGTCACTCATATACACGTTCACTCACAT TCACACACACACGCTCTCACAGTCACTCATATACACGTTCACTCACATTC ACTCACACACACACGCTCTCACTCATATACACGTTCACTCACATTCACTC ACACACGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACTCAC ACACACACGCTCTCTCAGTCACTCATATACACGTTCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0359 a0002c0018t0002g0359	1	362	0.0028	436	c.829 others(453): Show c.829-5831_829-5830insTGAACGTGTATATGAGTGACTGAGAGAG CGTGTGTGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAG AGCGTGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTGAGAGCGTGTG TGTGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAGAGCGTG TGTGTGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAGAGTGTGTG TGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAGAGTGTGTG TGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAGAGCGTGTG TCTAAGTGAATGTGAGTGAACGTGTATATGAGTGACTGTGAGAGCGTGTG TGTGAGTGAATGTGAGTGAACGTGTATATGAGTGACAGAGCATGTGTGTG TGAATGTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(429): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATA CAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAG TATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACA CACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATA CACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATA TACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	362	0.0028	436	c.-75 others(455): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATA CAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAG TATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATATA TACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACATACAGTATACATA CATACAGTATACATGCTGTACACAGTATACATGCTGTACACAGTATACAT GCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLGN1_chr3_173392744_174299372	174086282	T T	TACATAAA others(429): Show TACATAAATATATTTATGTATGTGCATACATAAATATATTTATGTATGTG CATACATAAATATATTTATGTATGTGCATACATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATATATATATATTTATGTATGTGCATAAATATATATATATATT TATGTATGTGCATACATATATATATATTTATGTATGTGCATACATATATA TATATTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAA TATATATATATTTATGTATGTGCATAAATATATATATATATTTATGTATG TGCATAAATATATATATATATTTATGTATGTGCATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0006 a0001c0001t0039g0006	1	44	0.0227	436	c.707 others(457): Show c.707-189032_707-189031insCATAAATATATTTATGTATGTGCA TACATAAATATATTTATGTATGTGCATACATAAATATATTTATGTATGTG CATACATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATATTTATGTA TGTGCATAAATATATATATATATTTATGTATGTGCATACATATATATATA TTTATGTATGTGCATACATATATATATATTTATGTATGTGCATAAATATA TATATATTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATA AATATATATATATATTTATGTATGTGCATAAATATATATATATATTTATG TATGTGCATAAA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(429): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGG TGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	356	0.0028	436	c.91+ others(449): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(429): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCAC CCCTGCACCCCTCCTCCCTCTCCCCCGTCCCACCCCTGCATCCCTCCTCC CTCTGCCCCGTCCCACCCCTACACCCCTCCTCCCTCTCCCCCGTCCCACC CCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCC CTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCC CTGCACCCCTCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCC TCTGCCCCACCCCACCCTTGCACCCCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18971.hp2 NA19000.hp2 NA18945.hp2 NA18971.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0232 a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0001t0001g0232 a0001c0002t0001g0231 a0001c0002t0001g0233	3	382	0.0079	436	c.270 others(451): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCC CTCTCCCCATCCCACCCCTGCACCCCTCCTCCCTCTCCCCCGTCCCACCC CTGCATCCCTCCTCCCTCTGCCCCGTCCCACCCCTACACCCCTCCTCCCT CTCCCCCGTCCCACCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGC CTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCT CTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCCCGTCCCACCCC TAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACCCCTCCTCCCTC TTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPEPPS_chr17_47526108_47628276	47574051	T T	TAGAAAAT others(429): Show TAGAAAATATTTAGAACTGGATTAAGAAAATGTGGCACATATACACCATG GAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGAC ATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAA AAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGA TCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATG ACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAA CTAACCTGCACAATGTGCACATGTACCCTGAAACTTAGAGTATAATAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	342	0.0029	436	c.418 others(453): Show c.418+4575_418+4576insGATTAAGAAAATGTGGCACATATACACC ATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTGAAACTTAGAGTATAATA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATATT TAGAACTG	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(429): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTCTCCTCTCCTCTCTCTCCTCTCCTCTCCTCCCCTCCC CTCCCCCCCTCCCCTTCCCCTCCCCTCCCCCTTCCCCCTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCC TTCCCTCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTT CCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0287 a0001c0001t0017g0287	1	326	0.0031	436	c.433 others(453): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGG GAGAGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGGAGGGGAG GGGAAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGGAGGGGAAGGGGA GGGGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGAGAGGAGAGGAGAGGA GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(429): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCTCCTCCCCTC CCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCACCCTCCCCCCCT CCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCC TTCCCCTCCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCT CCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0058 a0001c0001t0036g0058	1	326	0.0031	436	c.433 others(453): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGGGGAGGGGAGGAG AGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(429): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGG AGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGG AGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGG GGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAGGGAGAG GGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0118 a0001c0002t0046g0118	1	386	0.0026	436	c.92 others(447): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCCCTCTCT CTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCCCT CTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCTCCCTCC CTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTC CC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
P2RY8_chrX_1457581_1542185	1514684	C C	CCTTCCCT others(429): Show CCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCT TCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCC TTCCTTCCCTTCCTCCCCTCCTTTCCCTTCCCTTCCCTTCCCTTCCTTCC CTTCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTC CCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTT CCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCT TCCTCCCCTCCTTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCC TTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTTC CCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01346.hp2 HG00639.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0030 a0001c0001t0023 a0001c0001t0030	a0001c0001t0023g0059 a0001c0001t0030g0013 a0001c0001t0023g0059 a0001c0001t0030g0013	2	114	0.0175	436	c.-25 others(455): Show c.-25+22236_-25+22237insAAGGGAAGGGAAGGGAAGGAAGGGAA GGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGA AGGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAA GGAGGGGAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGG GAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGAAGGGAA GGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGAAGGGA AGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAAGGAGGGGAGG AAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGAAGG GAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAA GGAAGGGAAG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PEBP1_chr12_118131124_118150584	118133183	T T	TATATTTT others(429): Show TATATTTTCATCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	426	0.0024	436	c.-30 others(447): Show c.-3027_-3026insATATTTTCATCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATT TC	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2940		chr12	TogoVar
PERM1_chr1_970198_987093	976907	C C	CAACCCCG others(429): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0014 a0014	a0014c0033 a0014c0033	a0014c0033t0001 a0014c0033t0001	a0014c0033t0001g0187 a0014c0033t0001g0187	1	408	0.0025	436	c.215 others(453): Show c.2150-284_2150-283insCGGGGGAGTGGGAGGCGGTTCCCGGGGT TGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGGTGGCGGGGGGCAGGCGGTTCCCGGGGTTGGTGGGG GGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976907	C C	CAACCCCG others(429): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	408	0.0025	436	c.215 others(453): Show c.2150-284_2150-283insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGG GGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977160	C C	CCAACCCC others(429): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0147 a0001c0001t0010g0147	1	408	0.0025	436	c.215 others(453): Show c.2150-537_2150-536insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCC CGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PJA2_chr5_109329722_109414974	109354089	T T	TATGATAT others(429): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATA TCTATATCTAGAGATGTCTATAGATTAGATATCTATGATATCTAGAGATG TCTATAGATTAGATATCTATGATGTCTAGAGATTTCTATAGATTAGATAT CTATGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGA TATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGAT ATCGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGATATC TATAGATTAGATATCTATGATATCTCGAGATATCTATAGATTAGATATCT ATGATATCTCGAGATATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0075 a0003c0003t0002g0075	1	346	0.0029	436	c.176 others(455): Show c.1764+1825_1764+1826insCATAGATATCTAATCTATAGATATCT CGAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATAGATA TCTAATCTATAGATATCTCTAGATATAGATATCTAATCTATAGATATCTC TAGATATCGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTA ATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGAAATCTCT AGACATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAGATATC TAATCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGACATCT CTAGATATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCT AATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTC TAGATATCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATATCTA others(429): Show TATATCTAGAGATGTCTATAGATTAGATATCTATGATATCTAGAGATGTC TATAGATTAGATATCTATGATGTCTAGAGATTTCTATAGATTAGATATCT ATGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATA TCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGATATCTA TAGATTAGATATCTATGATATCTCGAGATATCTATAGATTAGATATCTAT GATATCTCGAGATATCTATAGATTAGATATCTATGATATCTCGAGATATC TATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0061 a0003c0003t0002g0061	1	346	0.0029	436	c.176 others(455): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGATAT CTCGAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATAGA TATCTAATCTATAGATATCTCTAGATATAGATATCTAATCTATAGATATC TCTAGATATCGATATCTAATCTATAGATATCTCTAGATATCATAGATATC TAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGAAATCT CTAGACATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAGATA TCTAATCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGACAT CTCTAGATAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PLEKHN1_chr1_961482_980865	977160	C C	CCAACCCC others(429): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	422	0.0024	436	c.25 others(447): Show c.2585_*2586insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1296		chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123740	A A	AGGGTCAT others(429): Show AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGCGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTC ACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT ATAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTATTTAGGG TCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0198 a0001c0003t0003g0198	1	286	0.0035	436	c.335 others(455): Show c.335-11516_335-11515insTGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGCGGTAGTTAGGGTCG TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCGTG GTGGTAGTTATTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATA GTTGGGGTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	504477	C C	CCTCCTCC others(429): Show CCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCC TGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCA CCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCA CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCT TCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACC CCCTCACCTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCT CCTCCTGTACCCCCCTCACCTCCTCCTGCACTCCCAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0148 a0001c0001t0008g0148	1	295	0.0034	436	c.139 others(455): Show c.1396-1023_1396-1022insCTCCTGTACCCCCCTCACCTCCTCCT GTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTA CCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCAC CTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCAC CCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTT CCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCC CCTCACCTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTC CTCCTGTACCCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCC CCCTCACCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAPGEF1_chr9_131571775_131745076	131587221	A A	AACACACA others(429): Show AACACACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACA CACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACA CACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACC TGCAGAGCGAGACTCCGTCTCAAACACACACACACACACCTGCAGAGTGA GACTCCGTCTCAAACACACACACACACACACACACCCCCCTGCAGAGCGA GACTCCGTCTCAAACACACACACACACACACCTGCAGAGCGAGACTCCGT CTCATACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACA CACACACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACA CACACACACACCTGCAGAGCGAGACTCCGTCTCAAAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG03098.hp1 others(4): Show HG01123.hp1 HG02109.hp2 HG03098.hp1 HG03225.hp1 HG03579.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0033 a0001c0004t0002 a0001c0004t0033	a0001c0004t0002g0046 a0001c0004t0002g0047 a0001c0004t0002g0049 others(4): Show a0001c0004t0002g0046 a0001c0004t0002g0047 a0001c0004t0002g0049 a0001c0004t0002g0050 a0001c0004t0002g0052 a0001c0004t0002g0194 a0001c0004t0033g0357	7	368	0.0190	436	c.323 others(453): Show c.3233+514_3233+515insGTTTGAGACGGAGTCTCGCTCTGCAGGT GTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGT GTGTATGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGTGTGTTTGA GACGGAGTCTCGCTCTGCAGGGGGGTGTGTGTGTGTGTGTGTGTGTTTGA GACGGAGTCTCACTCTGCAGGTGTGTGTGTGTGTGTTTGAGACGGAGTCT CGCTCTGCAGGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAG GTGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGT GTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGT GTGTGTGT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(429): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAG GAGGGAGGAGGGGAGGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGGAGGAGGGGAGGGCG GGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	318	0.0031	436	c.36 others(447): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGA AGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAG GAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGGAG GAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGGAGAGGGGGGAGGGG GAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGG AGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGG GGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGG GAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAG GG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RFC1_chr4_39282456_39371362	39348428	A A	AAAAGGAA others(429): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAAGGAAAAGGAAAAGGAAAAGG AAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAA AAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAA GGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAAGGAAAAG GAAAAGGAAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGG AAAAGGAAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAGGAAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	276	0.0036	436	c.132 others(453): Show c.132+2919_132+2920insCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTTCCTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTT TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTT TTCCTTTTCCTTTTCCTTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTT TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTC CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCT TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar

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