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
INSIG2_chr2_118083471_118115997	118094233	A A	AGATGATG others(362): Show AGATGATGATGATGATGATGATGATGATGATGATGATGATGATGAAGGAG AGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGA TGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGAT GATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTACTG AACCTTGCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGAGGAGGAG GAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGA TGATGATGATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTT GCCAAAAGCAACCAGATGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01074.hp1 others(19): Show HG00140.hp1 HG00323.hp2 HG01074.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01981.hp2 HG02109.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0028 a0001c0001t0004g0010 a0001c0001t0004g0044 others(10): Show a0001c0001t0001g0028 a0001c0001t0004g0010 a0001c0001t0004g0044 a0001c0001t0004g0170 a0001c0001t0004g0177 a0001c0001t0004g0268 a0001c0001t0005g0049 a0001c0001t0006g0050 a0001c0001t0006g0201 a0001c0001t0011g0010 a0001c0001t0011g0176 a0001c0001t0011g0181 a0001c0001t0011g0182	22	440	0.0500	369	c.-13 others(388): Show c.-138-2151_-138-2150insTGATGATGAAGGAGAGTTCTGTAGCT ACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGGAGAGTT CTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGAT GATGATGATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTTGCTGAA AGCAACCAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGGAGGAGAGT TCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGATGATGA GGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAAC CAGATGATGATGATGATGATGATGATGATGATGATGATGATGA	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(362): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0167 a0002c0003t0001g0167	1	308	0.0033	369	c.127 others(388): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132155008	A A	ATAATGGT others(362): Show ATAATGGTTATGGTGATGACGGTGGTGGTGATGATGATGATCATGATGAT GGTGGTAGTGGCAATGGTGATGATGATGGTGATCATGGCGGTGATCATGA TGGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGGTGGTG GTAGTGGTGATGGTGATGATGATGGTGATCATGGTGACGATCATGATGGT GGTGGTGGTGATGGTGGTGGTGATGATGGCAATGATCATGATGGTGGTGG TGGTAGTGGCGATGGTGACGATGATGGTGATCATGGTGATGATCATGATG GTGGTGGTCATGGTGATGGTGATAATAGTGGTGATGATGCTGGTGGTAGT GATGATGGTGATTATGATGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp2 HG01109.hp1 others(27): Show HG00738.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG02040.hp1 HG02135.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG03130.hp1 HG03225.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG06807.hp2 NA19043.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0001c0006 a0001c0015 others(12): Show a0001c0001 a0001c0006 a0001c0015 a0001c0017 a0001c0019 a0002c0004 a0002c0005 a0002c0008 a0002c0025 a0004c0009 a0004c0043 a0004c0046 a0005c0012 a0005c0050 a0009c0049	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0006t0035 a0001c0015t0005 a0001c0017t0003 a0001c0017t0005 a0001c0019t0003 a0002c0004t0003 a0002c0005t0005 a0002c0005t0019 a0002c0008t0003 a0002c0025t0032 a0004c0009t0002 a0004c0043t0005 a0004c0046t0007 a0005c0012t0007 a0005c0012t0011 a0005c0012t0033 a0005c0050t0034 a0009c0049t0011	a0001c0001t0002g0105 a0001c0001t0003g0097 a0001c0001t0003g0102 others(27): Show a0001c0001t0002g0105 a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0001t0005g0137 a0001c0001t0008g0100 a0001c0001t0008g0142 a0001c0006t0035g0057 a0001c0015t0005g0140 a0001c0017t0003g0011 a0001c0017t0003g0104 a0001c0017t0005g0079 a0001c0019t0003g0081 a0002c0004t0003g0035 a0002c0004t0003g0037 a0002c0005t0005g0130 a0002c0005t0019g0138 a0002c0008t0003g0008 a0002c0008t0003g0009 a0002c0008t0003g0010 a0002c0025t0032g0103 a0004c0009t0002g0059 a0004c0043t0005g0125 a0004c0046t0007g0091 a0005c0012t0007g0047 a0005c0012t0007g0048 a0005c0012t0007g0050 a0005c0012t0011g0002 a0005c0012t0033g0046 a0005c0050t0034g0115 a0009c0049t0011g0036	30	158	0.1899	369	c.222 others(388): Show c.2220+1019_2220+1020insAATGGTTATGGTGATGACGGTGGTGG TGATGATGATGATCATGATGATGGTGGTAGTGGCAATGGTGATGATGATG GTGATCATGGCGGTGATCATGATGGTGGTGGTGATGGTGGTGGTGATGAT GGCAATGATCATGATGGTGGTGGTAGTGGTGATGGTGATGATGATGGTGA TCATGGTGACGATCATGATGGTGGTGGTGGTGATGGTGGTGGTGATGATG GCAATGATCATGATGGTGGTGGTGGTAGTGGCGATGGTGACGATGATGGT GATCATGGTGATGATCATGATGGTGGTGGTCATGGTGATGGTGATAATAG TGGTGATGATGCTGGTGGTAGTGATGATGGTGATTATGATGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA0232_chr4_6777727_6889164	6879878	G G	GTCTGCAG others(362): Show GTCTGCAGTGTCCCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCC TTCCCAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACTGTGTCAC TGCAAACTCCCTTCCCAACACACAGATCTGCAGTGTCCCCTCACCATCTG TACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCCC CTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATC TGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCA ACACACAGGTCTGTAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAA CTCCCTTCCCAACACACAGA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	362	0.0028	369	c.400 others(386): Show c.4009-895_4009-894insCCCTCACCATCTGTACTGTGTCACTGCA AACTCCCTTCCCAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACT GTGTCACTGCAAACTCCCTTCCCAACACACAGATCTGCAGTGTCCCCTCA CCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTA GTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACAC ACAGATCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCC CTTCCCAACACACAGGTCTGTAGTGTCCCCTCACCATCTGTACTGTGTCA CTGCAAACTCCCTTCCCAACACACAGATCTGCAGTGTCCCC	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(362): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCC ACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTG AGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGG CCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCC TGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGG GGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTG AGTGAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01069.hp1 others(23): Show HG00423.hp2 HG00621.hp1 HG01069.hp1 HG01168.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG02071.hp1 HG02129.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02723.hp1 HG02970.hp2 HG02976.hp2 HG03540.hp1 NA18952.hp2 NA18960.hp2 NA18961.hp1 NA18980.hp1 NA18990.hp1 NA18995.hp2 NA19043.hp2 NA19065.hp1 NA19081.hp1 NA19091.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0012 a0002c0002 a0008c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0006t0002 a0001c0012t0005 a0001c0012t0006 a0002c0002t0001 a0008c0041t0002	a0001c0001t0001g0090 a0001c0001t0002g0080 a0001c0001t0002g0187 others(23): Show a0001c0001t0001g0090 a0001c0001t0002g0080 a0001c0001t0002g0187 a0001c0001t0003g0086 a0001c0001t0003g0186 a0001c0001t0004g0209 a0001c0001t0005g0087 a0001c0001t0010g0005 a0001c0001t0010g0016 a0001c0001t0014g0122 a0001c0001t0014g0123 a0001c0001t0014g0124 a0001c0003t0001g0057 a0001c0003t0001g0089 a0001c0003t0001g0184 a0001c0003t0001g0188 a0001c0003t0001g0296 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0003g0190 a0001c0003t0003g0205 a0001c0006t0002g0029 a0001c0012t0005g0109 a0001c0012t0006g0062 a0002c0002t0001g0171 a0008c0041t0002g0093	26	330	0.0788	369	c.430 others(384): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACC CTCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCC AGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(362): Show GCATCAGGGCCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCC ACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTG AGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGG CCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCC TGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGG GGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTG AGTGAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0185 a0001c0003t0030g0185	1	330	0.0030	369	c.430 others(384): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACC CTCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCC AGCAGGCAGCCCCCACCCCTTTACTCAGGGGCCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LHPP_chr10_124456823_124619141	124506731	G G	GAGGATTT others(362): Show GAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGG AGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGCGGGTAGGGA GGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGG ATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGAGGGGGGTAGAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0037 a0001c0001t0018g0037	1	260	0.0039	369	c.624 others(386): Show c.624+8615_624+8616insCGGGGGGTAGACAGGATTTCAGGTGAGG GGGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGC GGGTAGGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGGGG GGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124506794	G G	GGGGGGTA others(362): Show GGGGGGTAGACAGGATTTCAGGTGAGGCGGGTAGGGAGGATTTCAGGTGC AGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAG GGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGAG GGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAG GGGGGTAGACAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTCGG GGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGG GGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	260	0.0039	369	c.624 others(386): Show c.624+8671_624+8672insTAGACAGGATTTCAGGTGAGGCGGGTAG GGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGG GAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGG GAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTCGGGGGGGTAGG GAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507283	G G	GGGGTAGG others(362): Show GGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGG GGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATA GGGAGTATTTCAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	260	0.0039	369	c.624 others(386): Show c.624+9206_624+9207insATAGGGAGTATTTCAGGTGGGGAGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAG GGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610410	C C	CGGGTGAG others(362): Show CGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCGGGTGAGGGTGCTGG TGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTG AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAG GGTGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18942.hp2 HG00597.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0175 a0001c0001t0001g0043 a0001c0001t0001g0175	2	260	0.0077	369	c.717 others(386): Show c.717-2837_717-2836insCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCT GGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCGAGGG TGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	903337	G G	GGGACGCC others(362): Show GGGACGCCTGTCTCTGCTGTGTGGTGGTGACCTCTGCACTGCCTGTGGGG ACGCCCGTCTCTGCTGCGTGGTGGTGACCTCTGCATCGCCCACAGGACGC CTGTCTCTGCTGCGTGGGGTGACCTCTGCATCGCCCACAGGACGCCTGTC TCTGCTGCGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTATCTCTG CTGTGTGGTGGTGACCTTTGCACTGCCCGTGGGGACGCCTGTCTCTGCTG CGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGCTGTGT GGTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGG TGACCTCTGCATCGCCCACA	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18975.hp2 NA19009.hp2 HG01167.hp2 NA18975.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0001 a0001c0001t0013 a0001c0003t0001	a0001c0001t0013g0191 a0001c0003t0001g0176 a0001c0003t0001g0180 a0001c0001t0013g0191 a0001c0003t0001g0176 a0001c0003t0001g0180	3	294	0.0102	369	c.663 others(386): Show c.663+7593_663+7594insTGTGGGCGATGCAGAGGTCACCCCACGC AGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACACAGCA GAGACGGGCGTCCCCACAGGCAGTGCAGAGGTCACCACCACGCAGCAGAG ACAGGCGTCCCCACGGGCAGTGCAAAGGTCACCACCACACAGCAGAGATA GGCGTCCTGTGGGCGATGCAGAGGTCACCACCACGCAGCAGAGACAGGCG TCCTGTGGGCGATGCAGAGGTCACCCCACGCAGCAGAGACAGGCGTCCTG TGGGCGATGCAGAGGTCACCACCACGCAGCAGAGACGGGCGTCCCCACAG GCAGTGCAGAGGTCACCACCACACAGCAGAGACAGGCGTCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(362): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGACAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGAC AGGGGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGAGGG GAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0074 a0003c0003t0002g0074	1	104	0.0096	369	c.313 others(390): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCTTCCTCTCCCCT CTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCC CCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTGTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTT CCCTCCCCCTCCCCTTCACTCTCTCCTGCCCTCTACCCTCCCCTTTCCCC TGCCCTGTCCCCTCCCCTCTCTCCTCCCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(362): Show AGAGAGGGGAGGGGACGGGGGAGGGGAAAGGGGAGGGTAGAGGGCAGGAG AGAGTGAAGGGGAGGGGGAGGGAAGAGGGGAGGGGAGAGGGGAGGGGAGA AGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAGGGG AGAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAG GGGAGAGGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAAGGGAGGG GAGAGGGGAGGGGAGAGGGGAGAGGGGAGAGGAAGGGAGAGGGGAGGGGA GAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGA GGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0006 a0001c0005t0001g0006	1	104	0.0096	369	c.313 others(390): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CCCTTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCC TCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTC CCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCC TGCCCTCTACCCTCCCCTTTCCCCTCCCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65855633	G G	GACGGGGG others(362): Show GACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGGAAAGGGGAGGGTA GAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGAGGGGAGGGGAGAG GGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGG GAGGGGACAGGGGAGGGGAGGGGAAAGGGGAGGGGACAGGGGAGGGGAGG GGAGAGGGGAGGGGAGAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGG AGAGGGGAGGGGAGAGGGGAGAGGGGAGAGGAAGGGAGAGGGGAGGGGAG AGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAG GGGAGGGGAGAGGGGAGGGT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	104	0.0096	369	c.313 others(390): Show c.313+182362_313+182363insACCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCCCCTGTCCCCTCCCCTTTCCCCTCCCCTCCCCTGTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCT CCCCTCCCCTCTTCCCTCCCCCTCCCCTTCACTCTCTCCTGCCCTCTACC CTCCCCTTTCCCCTGCCCTGTCCCCTCCCCTCTCTCCTCCCCCGT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MALRD1_chr10_19043801_19739478	19238523	T T	TATTATAT others(362): Show TATTATATATATTATACATTATATATAATGTATATTATATATTATATATA TTATACATTATATATAATGTATAATATATATTATATATAATATACATTAT ATATAATGTATAATATATATTATATATTATACATTATATATAATGTATAA TATATATTATATATTATACATTATATATAATGTATAATATATATTATATA TAATATACATTATATATAATGTATAATATATATTATATAATATACATAAT GTATATTATATATAATATACATAATGTATATTATATATAATATACATAAT GTATATTATATATAATATACATAATGTATATTATATATAATATACATAAT GTATATTATATATAATATAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG01192.hp1 others(1): Show HG01070.hp2 HG01109.hp1 HG01192.hp1 NA18998.hp2	a0002 a0037 a0091 a0002 a0037 a0091	a0002c0002 a0037c0105 a0091c0096 a0002c0002 a0037c0105 a0091c0096	a0002c0002t0001 a0037c0105t0001 a0091c0096t0001 a0002c0002t0001 a0037c0105t0001 a0091c0096t0001	a0002c0002t0001g0046 a0002c0002t0001g0049 a0037c0105t0001g0047 others(1): Show a0002c0002t0001g0046 a0002c0002t0001g0049 a0037c0105t0001g0047 a0091c0096t0001g0004	4	152	0.0263	369	c.299 others(390): Show c.2992-19159_2992-19158insTATATATATTATACATTATATATA ATGTATATTATATATTATATATATTATACATTATATATAATGTATAATAT ATATTATATATAATATACATTATATATAATGTATAATATATATTATATAT TATACATTATATATAATGTATAATATATATTATATATTATACATTATATA TAATGTATAATATATATTATATATAATATACATTATATATAATGTATAAT ATATATTATATAATATACATAATGTATATTATATATAATATACATAATGT ATATTATATATAATATACATAATGTATATTATATATAATATACATAATGT ATATTATATATAATATACATAATGTATATTATATATAATATACAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(362): Show CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACC ATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0316 a0002c0002t0001g0316	1	362	0.0028	369	c.391 others(384): Show c.391+838_391+839insTCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCATCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(362): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATAATATATAATTTATATATAATATAATTATATAATATATAAT TTATATATAATATAATTATATAATATATAATTTATATATTATATAATTAT ATAATATATAATTTATATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATAATATAATTATATAATAT ATAATTTATATATAATATAATTATATAATATATAATTTATATATAATATA ATTATATAATATATAATTTATATATAATATAATTATATAATATATAATTT ATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18963.hp1 NA18960.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	288	0.0069	369	c.-31 others(380): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTATATATAAATTATAT ATTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MICAL3_chr22_17782649_18029561	17876845	T T	TAGGGAGG others(362): Show TAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTG AGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA GGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTTATGGAG GTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0029 a0002c0010t0029	a0002c0010t0029g0048 a0002c0010t0029g0048	1	274	0.0037	369	c.224 others(388): Show c.2242-4823_2242-4822insCACCTCCATAACCTCCCTCACCTCCA TAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACC TCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCAT AACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCT CCCTCACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTA ACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAA CTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876991	G G	GGGAGGTT others(362): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTT AGGGAGGTTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0001 a0004c0022t0001	a0004c0022t0001g0222 a0004c0022t0001g0222	1	274	0.0037	369	c.224 others(388): Show c.2242-4969_2242-4968insATAACCTCCATAACCTCCCTAACCTC CATAAGCTCCCTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACTTCCCTAACCTCCATAACTTCCCTAACCTCCCT AACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877493	T T	TATGGAGG others(362): Show TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGA AGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAG TTATGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0168 a0005c0008t0002g0168	1	274	0.0037	369	c.224 others(388): Show c.2242-5471_2242-5470insCACCTCCATAACCTCCATAACTTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCT CACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCT CCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACTTCCCTA ACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496997	G G	GTAGTGGT others(362): Show GTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGT GGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTAG TGGTGGCGGAGATGGTGGTGATGGAGGTGGTGATGGAGGTGGTGGTGGTG GAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGAGGTGGT GGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGG TGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTG GAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAGAT GGTGGTGGTGGTGGTGGAGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0221 a0001c0001t0029g0221	1	250	0.0040	369	c.633 others(386): Show c.633-1237_633-1236insAGTGGTGGTGGAGATGGTGGTGGTGGAG GTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGT GGAGGTGGTGGTGGAGGTAGTGGTGGCGGAGATGGTGGTGATGGAGGTGG TGATGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTG GAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGT GGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAG TGGTGGTGGAGATGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTG GAGATAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500182	T T	TGGTGATG others(362): Show TGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGT GGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGGGGTGGTGG TGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGGT GATGGAGGTGGTGATGGGGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGA TGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAG GTGGTAGTGGTGGTGATGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0229 a0001c0001t0005g0229	1	250	0.0040	369	c.748 others(386): Show c.748+1833_748+1834insGTGATGGTGGTGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTG ATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGA GGTGGTGGTGGGGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGTA GTGGTGGTGATGAAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGT GGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGTGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500211	G G	GTGGAGGT others(362): Show GTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATG GTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGT GGTGATGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	250	0.0040	369	c.748 others(386): Show c.748+1864_748+1865insAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTG ATGGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGT GGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGA TGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGAT GGTGATGGAGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(362): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGA GGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGG AGGGGGGCGCGTGGGGGGGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAG GGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGG GGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0202 a0001c0001t0011g0202	1	388	0.0026	369	c.159 others(386): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGG GCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGG GGGGCGCGTGGGGGGGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGG GGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGG GTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO1F_chr19_8515778_8582442	8543675	C C	CTGGTGGT others(362): Show CTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGT GGTGGTGGTGGTGCTGCTGCTGGTGGTGGTGGTGGTGGTGCTGGTGCTGG TGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGCTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGCTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGT GCTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0121 a0001c0021t0001g0121	1	342	0.0029	369	c.152 others(386): Show c.1524+621_1524+622insCCACCACCACCACCACCAGCACCAGCAC CACCACCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCA CCACCACCACCACCACCACCACCACCAGCACCAGCACCACCACCACCACC ACCACCACCACCACCACCACCACCAGCACCACCACCACCACCACCACCAC CACCACCAGCACCACCACCACCACCACCACCACCACCACCACCACCAGCA CCAGCACCACCACCACCACCACCAGCACCACCACCACCACCACCAGCACC AGCACCACCACCACCACCACCAGCAGCAGCACCACCACCACCACCACCAC CAGCACCACCACCACCACCACCACCACCACCAGCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(362): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCC ACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAG CCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTG AAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCT GAAGCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19088.hp1 NA19004.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0095 a0001c0001t0013 a0002c0002t0095	a0001c0001t0013g0190 a0002c0002t0095g0040 a0001c0001t0013g0190 a0002c0002t0095g0040	2	366	0.0055	369	c.-16 others(390): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCC TGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCT CCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTT CTCCTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(362): Show CCCCCATCCCACCCCTGCACCCCTCCCATCCCACCTCTAAACCCCTCCTC CCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAAC CCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCC CTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCCC TCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACACC CCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCT CTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCC TTGCACCCCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0117 a0002c0008t0001g0117	1	382	0.0026	369	c.270 others(384): Show c.270+283_270+284insATCCCACCCCTGCACCCCTCCCATCCCACC TCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCC TGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCC CACCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCC TGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCT CTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCT GCACCCCTCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTC TGCCCCACCCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(362): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTGTCCCCCTCTAAACCCCACCTCCCTCTCCCCATCCCAC CCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTC CCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATC CCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCT CTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCC TTGCACCCCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03195.hp2 NA18747.hp2 others(1): Show HG01978.hp1 HG03195.hp2 NA18747.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0329 a0001c0002t0001g0138 a0001c0002t0001g0139 others(1): Show a0001c0001t0001g0329 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140	4	382	0.0105	369	c.270 others(384): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCACCTCC CTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACG CCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCC TCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCT GCACCCCTCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTC TGCCCCACCCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(362): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCAC CCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTC CCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATC CCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCT CTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCC TTGCACCCCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	382	0.0026	369	c.270 others(384): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCTCCTCC CTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACG CCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCC TCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCT GCACCCCTCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTC TGCCCCACCCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(362): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	384	0.0026	369	c.-6- others(386): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NRIP1_chr21_14956235_15070000	14980613	T T	TGATCAAT others(362): Show TGATCAATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	398	0.0025	369	c.-33 others(390): Show c.-334-12088_-334-12087insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACATTGATC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	3/3			chr21	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(362): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCCCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0136 a0001c0001t0015g0136	1	326	0.0031	369	c.433 others(386): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGGG AGGGGGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NWD2_chr4_37239743_37454463	37330953	G G	GTACAATA others(362): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03688.hp1 HG00741.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0019 a0001c0002t0004g0064 a0001c0001t0002g0019 a0001c0002t0004g0064	2	296	0.0068	369	c.240 others(386): Show c.240+4969_240+4970insGTACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCA CCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTG AGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT ATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37330953	G G	GTACAATA others(362): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCATCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	296	0.0034	369	c.240 others(386): Show c.240+4969_240+4970insGTACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTGTACAATACCATCAGAATCATCACCCTACTTGAGTATTTCTGTACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCA CCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTG AGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT ATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331281	A A	ATACAATA others(362): Show ATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AAAACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0123 a0001c0002t0004g0123	1	296	0.0034	369	c.240 others(386): Show c.240+5297_240+5298insATACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTGTACAAAACCACCAGAATCATCA CCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTG AGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331281	A A	ATACAATA others(362): Show ATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG00735.hp1 others(37): Show HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01496.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02273.hp1 HG02486.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03195.hp1 HG03579.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18979.hp2 NA19064.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0027 a0002c0003 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0002t0004 a0001c0002t0008 a0001c0004t0001 a0001c0008t0003 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002 a0001c0015t0003 a0001c0027t0017 a0002c0003t0003 a0002c0003t0006 a0002c0017t0006	a0001c0001t0001g0030 a0001c0001t0001g0087 a0001c0001t0001g0153 others(37): Show a0001c0001t0001g0030 a0001c0001t0001g0087 a0001c0001t0001g0153 a0001c0001t0001g0194 a0001c0001t0001g0218 a0001c0001t0001g0239 a0001c0001t0001g0287 a0001c0001t0002g0031 a0001c0001t0002g0074 a0001c0001t0002g0138 a0001c0001t0002g0196 a0001c0001t0003g0193 a0001c0001t0005g0271 a0001c0001t0005g0274 a0001c0001t0007g0254 a0001c0001t0007g0256 a0001c0001t0012g0080 a0001c0001t0012g0081 a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0004g0192 a0001c0002t0008g0259 a0001c0004t0001g0100 a0001c0004t0001g0202 a0001c0008t0003g0172 a0001c0008t0003g0173 a0001c0008t0003g0174 a0001c0008t0003g0175 a0001c0009t0002g0106 a0001c0010t0002g0238 a0001c0011t0002g0102 a0001c0011t0002g0103 a0001c0015t0003g0056 a0001c0027t0017g0104 a0002c0003t0003g0038 a0002c0003t0003g0041 a0002c0003t0003g0205 a0002c0003t0006g0004 a0002c0003t0006g0195 a0002c0017t0006g0200	40	296	0.1351	369	c.240 others(386): Show c.240+5297_240+5298insATACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCA CCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTG AGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331281	A A	ATACAATA others(362): Show ATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCGGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTATACAATACCACCGGAATCATCACCCTACTTGAGTATTTCTATAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	296	0.0034	369	c.240 others(386): Show c.240+5351_240+5352insGGAATCATCACCCTACTTGAGTATTTCT GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCGGAAT CATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTATACAATACCACC	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
OPCML_chr11_132409981_133537501	133082514	C C	CTCCCCTC others(362): Show CTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTC CCCTCCTCCCCTCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCC TCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCA TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCC TCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCT CCTCCCCCTCGCCCATCCCCCTTTCCCCTCCTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp2 HG02809.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0013 a0001c0001t0001g0028	2	68	0.0294	369	c.62- others(388): Show c.62-139505_62-139504insAGGGGGATGGGCGAGGGGGAGGAGAG GATGAGGAGGGGAGGAGGGGAAAGGGGGATGGGCGAGGGGGAGGAGAGGA TGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGA GGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGA GGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGG GAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAA GGGGGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGGG GGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(362): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	438	0.0023	369	c.-29 others(384): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAATA ATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(362): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01123.hp1 others(8): Show HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01993.hp2 HG02293.hp2 HG02523.hp2 NA18968.hp1 NA18979.hp1 NA18990.hp2 NA19055.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	11	438	0.0251	369	c.-29 others(384): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATA ATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(362): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02135.hp2 HG02738.hp1 others(7): Show HG02027.hp2 HG02135.hp2 HG02738.hp1 HG03942.hp2 NA18966.hp1 NA18993.hp1 NA19010.hp1 NA19068.hp2 NA19077.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0026 a0001c0001t0001g0062 a0001c0001t0001g0139 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0062 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0186 a0002c0002t0003g0035	10	438	0.0228	369	c.-29 others(384): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATA ATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(362): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01433.hp2 HG02083.hp1 others(13): Show HG00738.hp2 HG01433.hp2 HG02083.hp1 HG03831.hp2 NA18747.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18975.hp1 NA18981.hp1 NA18984.hp2 NA18998.hp1 NA19007.hp1 NA19056.hp1 NA19074.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0009c0013t0001 a0001c0001t0001 a0009c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0210 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0210 a0009c0013t0001g0178	16	438	0.0365	369	c.-29 others(384): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATA ATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(362): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG01169.hp2 others(17): Show HG01081.hp2 HG01169.hp1 HG01169.hp2 HG01884.hp1 HG02015.hp1 HG02040.hp2 HG04184.hp2 NA18939.hp2 NA18943.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA19002.hp1 NA19004.hp2 NA19058.hp1 NA19059.hp2 NA19060.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0055 a0002c0002t0001g0023 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0055 a0002c0002t0001g0023 a0002c0002t0003g0032	20	438	0.0457	369	c.-29 others(384): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA ATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(362): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02155.hp2 NA18946.hp2 others(8): Show HG00558.hp2 HG02155.hp2 NA18946.hp2 NA18957.hp1 NA18969.hp2 NA18984.hp1 NA19010.hp2 NA19012.hp2 NA19059.hp1 NA19088.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0002g0231 a0001c0001t0003g0087 others(1): Show a0001c0001t0001g0007 a0001c0001t0002g0231 a0001c0001t0003g0087 a0002c0002t0001g0053	11	438	0.0251	369	c.-29 others(384): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(362): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp1 HG00099.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0156 a0001c0001t0002g0228 a0001c0001t0001g0156 a0001c0001t0002g0228	2	438	0.0046	369	c.-29 others(384): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(362): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	438	0.0023	369	c.-29 others(384): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83951892	C C	CCTCCATC others(362): Show CCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCCTTTCCCTCCCT CCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCT CCTCCCCTCCATCCCTTCCTCCTTCCTCCCTCCCTCCTTCCCTCCCTGCC TTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCCTCCGTC CTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCCT CCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCCCTCCCTCCCTGCCT CCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCC CTCCCTCCCTGCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	350	0.0029	369	c.-15 others(380): Show c.-1511_-1510insCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTCCT CCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCT CCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCTCCCTCCCT CCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCC TCCTTCCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTC CCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC CCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCC TCCCTCCCTCCTTCCCTCCCTCCCTGCTCCCTCCT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1347		chr16	TogoVar
OTOF_chr2_26452203_26483124	26476493	T T	TCCCCAAC others(362): Show TCCCCAACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTC CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCC CACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACCCCTTCCCCCACCTCCCTTCCCCACCCCTTCCCCCACCTC CTTCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCC ACCCCTTCCCCACCCCTTCC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	330	0.0030	369	c.436 others(384): Show c.436-177_436-176insGGAAGGGGTGGGGAAGGGGTGGGGGAAGGG GTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGAAGGAGGTGGGGG AAGGGGTGGGGAAGGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGG GGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26483124	26476493	T T	TCCCCACC others(362): Show TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCC ACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACC TCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCC TTCCCCAACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCC CACCCCTTCCCCACCCCTTC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0092 a0001c0003t0001g0092	1	330	0.0030	369	c.436 others(384): Show c.436-177_436-176insGAAGGGGTGGGGAAGGGGTGGGGGAAGGGG TGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTTGGGGAAGGGGTGGGGA AGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGAAG GGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTG GGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45927331	T T	TCCTCCCC others(362): Show TCCTCCCCTCCTGCCCTCCTCTCCTTCACTCTGCCTCCTCCCTCCCCTCC TCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCCTCTCCCTCCC TCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTCCT GTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCC TCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCT CTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCCTCCTCTCCTCTCC CCTCCCTCACTCTCCCCCTCCTCCCTCCCTCCTCTCTCTCTCCCCTCCCT CACTCTCCCCCTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	292	0.0034	369	c.718 others(386): Show c.718-2575_718-2574insGCCCTCCTCTCCTTCACTCTGCCTCCTC CCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCC TCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCC CTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCC CTCCCTCCCCTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCT CCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCCTCC TCTCCTCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCCTCCTCTCTCTC TCCCCTCCCTCACTCTCCCCCTCCTCCCTCCCTCCCCTCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar

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