Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(414): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATTTATATAAATACATTATATTTTATATATTTATATAAA TACATTATATTTTATATATTTATATAAATACATTATATTTTATATAATAT ATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0179 a0001c0001t0006g0179	1	205	0.0049	421	c.-53 others(440): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATGTATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(414): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATTTATATAAATACATTATATTTTATATATTTATATAAA TACATTATATTTTATATATTTATATAAATATATTATATTTTATATAATAT ATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp1 HG01257.hp1 others(7): Show HG00621.hp2 HG01109.hp1 HG01257.hp1 HG01358.hp1 HG02056.hp2 HG03490.hp2 NA18955.hp2 NA19074.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0113 a0001c0001t0002g0175 a0001c0001t0002g0185 others(7): Show a0001c0001t0002g0113 a0001c0001t0002g0175 a0001c0001t0002g0185 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0212 a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0021g0234	10	214	0.0467	421	c.-53 others(440): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(414): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATATGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTACAATAATATTAATATTATATTAT AATTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTT TATAATAATATTATATAATATGTATTAATAACATATAATATAATATACAA TCTATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp1 others(7): Show HG01123.hp2 HG01167.hp1 HG01169.hp1 HG02055.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	10	13	0.7692	421	c.40 others(432): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTGTAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAATATATAATATATTATTATATATAATATAATATATAATAT ATTATATATTATAATAATATATATGTTATGTAATATATAATATATTATAT ATAATAATATATAATATAATATATAATATATTAAGATTATATATGATATG TAATATATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(414): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATATGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTATAATAATATTAATATTATATTAT AATTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTT TATAATAATATTATATAATATGTATTAATAACATATAATATAATATACAA TCTATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0005g0014 a0002c0002t0001g0022	230	233	0.9871	421	c.40 others(432): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAATATATAATATATTATTATATATAATATAATATATAATAT ATTATATATTATAATAATATATATGTTATGTAATATATAATATATTATAT ATAATAATATATAATATAATATATAATATATTAAGATTATATATGATATG TAATATATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(414): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATGTGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTATAATAATATTAATATTATATTAT AATTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTT TATAATAATATTATATAATATGTATTAATAACATATAATATAATATACAA TCTATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	4	0.2500	421	c.40 others(432): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACACATTATATATTATTAT ATATAATATAATATATAATATATTATTATATATAATATAATATATAATAT ATTATATATTATAATAATATATATGTTATGTAATATATAATATATTATAT ATAATAATATATAATATAATATATAATATATTAAGATTATATATGATATG TAATATATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(414): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTTTTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATATGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTATAATAATATTAATATTATATTAT AATTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTT TATAATAATATTATATAATATGTATTAATAACATATAATATAATATACAA TCTATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG03831.hp1 HG02683.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	5	0.4000	421	c.40 others(432): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAATATATAATATATTATTATATATAATATAATATATAATAT ATTATATATTATAAAAATATATATGTTATGTAATATATAATATATTATAT ATAATAATATATAATATAATATATAATATATTAAGATTATATATGATATG TAATATATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
EXD3_chr9_137301896_137428162	137355570	T T	TGGAGGAA others(414): Show TGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAA GGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAA GGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAA GGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGAAAGGGAGGAAG GAGGAAGGAGAAAGGGAGGAAGGAGGAAGAGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGAAAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	28	0.0357	421	c.757 others(436): Show c.757+697_757+698insCTTTCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCTCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCC CTTTCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCC TTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCC TTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCA TCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FMN2_chr1_240086883_240480187	240185119	C C	CCCCTTCT others(414): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0045 a0045	a0045c0107 a0045c0107	a0045c0107t0001 a0045c0107t0001	a0045c0107t0001g0134 a0045c0107t0001g0134	1	146	0.0068	421	c.193 others(440): Show c.1931-3085_1931-3084insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FSIP1_chr15_39595031_39787841	39702423	T T	TAAAACTA others(414): Show TAAAACTACTTTTTTTTTTTTTTTTCTATCAAATGTGGTTTTTTTATTCA ACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACATGGC AAAAACAGGAGTTTTTTCGCTAGACTTTTTTCTTTTTAACCTTATTAAAA ATGAGATTGGTCCTAAAAATATAGAAAGAAATAAATTTAAATTCACAAAA AACTGTACATTATCAAAAAGTCACTAAAACACCACATTTGGTTATATAAA AAGTCCCTTTTGCTGTAAAAGGAACACAGAAACTTGTTGGTGTTGATGGT GTGGTTTCTTCCTGTCAACCAGACTGATGGGAGGGAAGCAAAAGGGCAGG GGGTAGGTTGTCTTTTTATTTTAAACCTGCTTTCCCTACCAAATACTCTT GAGCTAGGTGGATTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG01257.hp2 others(11): Show HG00099.hp1 HG01175.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02735.hp1 HG03130.hp2 HG03239.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 NA19004.hp2	a0003 a0004 a0011 a0003 a0004 a0011	a0003c0003 a0004c0004 a0011c0009 a0003c0003 a0004c0004 a0011c0009	a0003c0003t0001 a0004c0004t0002 a0004c0004t0004 others(3): Show a0003c0003t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0008 a0004c0004t0013 a0011c0009t0001	a0003c0003t0001g0136 a0004c0004t0002g0145 a0004c0004t0004g0015 others(11): Show a0003c0003t0001g0136 a0004c0004t0002g0145 a0004c0004t0004g0015 a0004c0004t0004g0091 a0004c0004t0004g0092 a0004c0004t0004g0093 a0004c0004t0004g0102 a0004c0004t0004g0118 a0004c0004t0004g0137 a0004c0004t0004g0139 a0004c0004t0004g0140 a0004c0004t0008g0086 a0004c0004t0013g0105 a0011c0009t0001g0104	14	83	0.1687	421	c.118 others(442): Show c.1188+11020_1188+11021insGAAGAGAAAATCCACCTAGCTCAA GAGTATTTGGTAGGGAAAGCAGGTTTAAAATAAAAAGACAACCTACCCCC TGCCCTTTTGCTTCCCTCCCATCAGTCTGGTTGACAGGAAGAAACCACAC CATCAACACCAACAAGTTTCTGTGTTCCTTTTACAGCAAAAGGGACTTTT TATATAACCAAATGTGGTGTTTTAGTGACTTTTTGATAATGTACAGTTTT TTGTGAATTTAAATTTATTTCTTTCTATATTTTTAGGACCAATCTCATTT TTAATAAGGTTAAAAAGAAAAAAGTCTAGCGAAAAAACTCCTGTTTTTGC CATGTGATGTTCCACAAGTGCAGCTGTAGAAAAGTGCTTGTCAGTTGTTG AATAAAAAAACCACATTTGATAGAAAAAAAAAAAAAAAAGTAGTTTT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
FSIP1_chr15_39595031_39787841	39702423	T T	TAAAACTA others(414): Show TAAAACTACTTTTTTTTTTTTTTTTCTATCAAATGTGGTTTTTTTATTCA ACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACATGGC AAAAACAGGAGTTTTTTCGCTAGACTTTTTTCTTTTTAACCTTATTAAAA ATGAGATTGGTCCTAAAAATATAGAAAGAAATAAATTTAAATTCACAAAA AACTGTACATTATCAAAAAGTCACTAAAACACCACATTTGGTTATATAAA AAGTCCCTTTTGCTGTAAAAGGAACACAGAAACTTGTTGGTGTTGATGGT GTGGTTTCTTCCTGTCAACCAGACTGATGGGAGGGAAGCAAAAGGGCAGG GGGTGGGTTGTCTTTTTATTTTAAACCTGCTTTCCCTACCAAATACTCTT GAGCTAGGTGGATTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01978.hp1 others(13): Show HG01243.hp2 HG01255.hp1 HG01978.hp1 HG02145.hp2 HG02630.hp2 HG02717.hp1 HG02897.hp1 HG02965.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0010	a0001c0001 a0003c0003 a0006c0006 others(2): Show a0001c0001 a0003c0003 a0006c0006 a0007c0007 a0010c0012	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(6): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0006c0006t0003 a0006c0006t0010 a0007c0007t0001 a0007c0007t0003 a0010c0012t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(13): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0193 a0003c0003t0001g0194 a0003c0003t0002g0142 a0003c0003t0002g0200 a0003c0003t0003g0198 a0003c0003t0003g0199 a0006c0006t0003g0249 a0006c0006t0003g0250 a0006c0006t0010g0251 a0006c0006t0010g0252 a0007c0007t0001g0248 a0007c0007t0003g0185 a0010c0012t0001g0184	16	85	0.1882	421	c.118 others(442): Show c.1188+11020_1188+11021insGAAGAGAAAATCCACCTAGCTCAA GAGTATTTGGTAGGGAAAGCAGGTTTAAAATAAAAAGACAACCCACCCCC TGCCCTTTTGCTTCCCTCCCATCAGTCTGGTTGACAGGAAGAAACCACAC CATCAACACCAACAAGTTTCTGTGTTCCTTTTACAGCAAAAGGGACTTTT TATATAACCAAATGTGGTGTTTTAGTGACTTTTTGATAATGTACAGTTTT TTGTGAATTTAAATTTATTTCTTTCTATATTTTTAGGACCAATCTCATTT TTAATAAGGTTAAAAAGAAAAAAGTCTAGCGAAAAAACTCCTGTTTTTGC CATGTGATGTTCCACAAGTGCAGCTGTAGAAAAGTGCTTGTCAGTTGTTG AATAAAAAAACCACATTTGATAGAAAAAAAAAAAAAAAAGTAGTTTT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
GALNT17_chr7_71127144_71718599	71680628	T T	TCCCTCCC others(414): Show TCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCTCTCTCCCTTCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTCTCTTCCTCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0020 a0001c0007t0020	a0001c0007t0020g0005 a0001c0007t0020g0005	1	60	0.0167	421	c.150 others(440): Show c.1500+3322_1500+3323insCCCTCCCTCCCTGTCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCT CCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCTCTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10			chr7	TogoVar
GPM6A_chr4_175627937_175817264	175637151	A A	ATATGTCA others(414): Show ATATGTCACATATAATATATGATATATGTCACATATATGATATATATTAT ATAAAAATATATAATATATTTTTATATAATATATAATATATTGTATATTT TTATATATATAAAAATATAAAGGTTTTATATATATATAAAGGTCATATAT ATATGAGGTTACTGGGAGTCCTTCTAAGGCTCTCCATATATTTTTATATA TATAATTATACATTTTTATATATATACTATATTATATTATTATATATTAT ATAATATATTATATGTTATATATTATATATTTTTATATAATATATAATAT ATAATATATATTTTATATTATATATAATATATAATATATATTTTATATAA TATATAATATATAATATATATTATATATTATATATAATATATAATATATA TTTTATATTATATATGATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	268	0.0037	421	c.685 others(438): Show c.685-2095_685-2094insATATATCATATATAATATAAAATATATA TTATATATTATATATAATATATAATATATATTATATATTATATATTATAT AAAATATATATTATATATTATATATAATATAAAATATATATTATATATTA TATATTATATAAAAATATATAATATATAACATATAATATATTATATAATA TATAATAATATAATATAGTATATATATAAAAATGTATAATTATATATATA AAAATATATGGAGAGCCTTAGAAGGACTCCCAGTAACCTCATATATATAT GACCTTTATATATATATAAAACCTTTATATTTTTATATATATAAAAATAT ACAATATATTATATATTATATAAAAATATATTATATATTTTTATATAATA TATATCATATATGTGACATATATCATATATTATATGTGACATA	GPM6A	ENSG00000150625.17	transcript	ENST00000393658.7	protein_coding	6/6			chr4	TogoVar
GSE1_chr16_85608322_85681200	85653223	T T	TCCCCCCT others(414): Show TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCT CCTCCCCCCCTCCCCCCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCC CTCCTCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCC CTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCCTCCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCCTCCC CCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCCCCCC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	243	0.0041	421	c.427 others(438): Show c.427-1053_427-1052insCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCCCCCTCCTCC CCCCCCTCCCCCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCTC CTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCCTCCC CCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(414): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATATTA TATAAAATATATATTATATATAAAATATATAATATATATAAAATATATAC TATATATAAAATATATAATATATATAAAATATATACTATATATAAAATAT ATACTATATATAAAATATATAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0216 a0001c0001t0059g0216	1	185	0.0054	421	c.963 others(440): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATACTATATATAAAATATATAATATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(414): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATATTA TATAAAATATATATTATATATAAAATATATAATATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATACTATATATAAAATATATAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	185	0.0054	421	c.963 others(440): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATACTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(414): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATATTA TATAAAATATATATTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATACTATATATAAAATATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18946.hp2 HG01123.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0114 a0001c0001t0014g0024 a0001c0001t0002g0114 a0001c0001t0014g0024	2	186	0.0108	421	c.963 others(440): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATACTATA TATAAAATATATACTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHDC4_chr16_87702812_87770986	87738956	C C	CCACACAC others(414): Show CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCACCCACACACCAGCACCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp2 HG03225.hp2 others(1): Show HG02970.hp1 HG03209.hp2 HG03225.hp2 NA18522.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0016 a0001c0001 a0019c0016	a0001c0001t0001 a0019c0016t0001 a0001c0001t0001 a0019c0016t0001	a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 others(1): Show a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0019c0016t0001g0132	4	326	0.0123	421	c.507 others(438): Show c.507-8313_507-8312insAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGG TGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	5	0.2000	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCC CCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	5	0.2000	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCC CCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGCAGGAGGAGGGGGGAGGGGGAGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19012.hp2 NA18979.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	6	0.3333	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCC CCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGGAGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	5	0.2000	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC TCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCT TATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTC CACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCC CCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGGAGGAGGGGAAGGAGAGGAGGAGGGGGAGGGG AAGGGGGAGAGGAGGAGAGGAAGAGGAGAAGAGGCAGTGGGAAGATGAAG AGGAAGAGGAAGAAGGAGGAGGAGGAAAGAAGATGAATAAGAGGAGGAGG AGAAAAGGAGAGAGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGGGAGGA GGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	5	0.2000	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCCCCTCCTCTCTCTCCTTTTCTCCTCCTCC TCTTATTCATCTTCTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCT TCCCACTGCCTCTTCTCCTCTTCCTCTCCTCCTCTCCCCCTTCCCCTCCC CCTCCTCCTCTCCTTCCCCTCCTCCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	5	0.2000	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC TCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCT TATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTC CACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCC CTCCTCCCTCTCCTTCCCCTCCTCCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGGAGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGGAGGGGGAGG GGGAGAGGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGAT GAAGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGA GGAGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAG GAGGGGGAGGAGGGCAGGAGGAGGGGGGAGGGGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0072 a0002c0003t0007g0072	1	5	0.2000	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCCCCTCCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCCTC CTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCTTA TTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTCCA CTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCCTCTCCCCCTCCCCC TCCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTC CACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCC CTCCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(414): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTG ATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGAT GATGGTGGGGGTAATGACGGTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0145 a0002c0003t0001g0145	1	31	0.0323	421	c.956 others(438): Show c.956+1962_956+1963insCACCGTCATTACCCCCACCATCATCACC CTCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCAT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCATCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCC ACCCCCATCATCACCGTCATCACCCCTCCACCCCCATCATCACCGTCATC ACCCCCACCATCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCAC CATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(414): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTG ATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGAT GATGGTGGGGGTAATGACGGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0152 a0006c0012t0001g0152	1	31	0.0323	421	c.956 others(438): Show c.956+1962_956+1963insCACCGTCATTACCCCCACCATCATCACC CTCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCAT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCC ACCCCCATCATCACCGTCATCACCCCTCCACCCCCATCATCACCGTCATC ACCCCCACCATCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCAC CATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(414): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG ATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGAT GATGGTGGGGGTAATGACGGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0151 a0018c0020t0001g0151	1	31	0.0323	421	c.956 others(438): Show c.956+1962_956+1963insCACCGTCATTACCCCCACCATCATCACC CTCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCAT CATCACCCCCACCCCCACCATCATCACCCCCACCATCACCATCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCC ACCCCCATCATCACCGTCATCACCCCTCCACCCCCATCATCACCGTCATC ACCCCCACCATCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCAC CATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LMF1_chr16_848634_975984	857751	G G	GAGTGGTG others(414): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCA CGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC AGTGGTGTCTCGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA20300.hp1 HG03927.hp1 NA20300.hp1	a0005 a0005	a0005c0029 a0005c0029	a0005c0029t0003 a0005c0029t0003	a0005c0029t0003g0182 a0005c0029t0003g0205 a0005c0029t0003g0182 a0005c0029t0003g0205	2	248	0.0081	421	c.153 others(440): Show c.1530-3046_1530-3045insACACCCATCCCGAGACACCACTGCAC ACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCC ATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCC CGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAG ACACCACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGTGAC ACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACAC CACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	220	0.0045	421	c.-43 others(432): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	220	0.0045	421	c.-43 others(432): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	220	0.0045	421	c.-43 others(432): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	220	0.0045	421	c.-43 others(432): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LYPD8_chr1_248734415_248760759	248742675	G G	GAGATTAC others(414): Show GAGATTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGG TGGGGATGTTGGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAG CGGGGGAGGTTACGCTCTGGTGGGGATGTTGGCAGCCGGGTAGATTACGC TCTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTT GGCAGCCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGA TTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTACGCTCTGGTGGG GATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGG GGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGGTTACGCTCTG GTGGGGATGTTGGCAGCCGGGT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	371	0.0027	421	c.475 others(438): Show c.475+2466_475+2467insACCCGGCTGCCAACATCCCCACCAGAGC GTAACCTCCCCCGCTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCT GCCAACATCCCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACC AGAGCGTAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCC CCGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGGCTGCCAACATC CCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCGTAA TCTACCCGGCTGCCAACATCCCCACCAGAGCGTAACCTCCCCCGCTGCCA ACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGAG CATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCGTAATCT	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MACF1_chr1_39199695_39492138	39234634	G G	GGGCGGGG others(414): Show GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGAGATGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0093 a0002c0003t0002g0093	1	57	0.0175	421	c.171 others(438): Show c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGAGATGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234634	G G	GGGCGGGG others(414): Show GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGAGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02129.hp2 NA18954.hp1 HG01106.hp2 HG02129.hp2 NA18954.hp1	a0001 a0024 a0001 a0024	a0001c0012 a0024c0033 a0001c0012 a0024c0033	a0001c0012t0001 a0024c0033t0001 a0001c0012t0001 a0024c0033t0001	a0001c0012t0001g0058 a0001c0012t0001g0059 a0024c0033t0001g0055 a0001c0012t0001g0058 a0001c0012t0001g0059 a0024c0033t0001g0055	3	59	0.0508	421	c.171 others(438): Show c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234634	G G	GGGCGGGG others(414): Show GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCAGCTGGCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	57	0.0175	421	c.171 others(438): Show c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCTGGCGGGGG	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234634	G G	GGGCGGGG others(414): Show GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02155.hp1 HG02523.hp1 others(3): Show HG02132.hp1 HG02155.hp1 HG02523.hp1 HG03239.hp1 NA18960.hp1 NA19080.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0002 a0007c0007t0001 a0007c0007t0002	a0007c0007t0001g0056 a0007c0007t0001g0081 a0007c0007t0001g0082 others(3): Show a0007c0007t0001g0056 a0007c0007t0001g0081 a0007c0007t0001g0082 a0007c0007t0001g0101 a0007c0007t0002g0054 a0007c0007t0002g0057	6	62	0.0968	421	c.171 others(438): Show c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAEA_chr4_1284891_1345137	1334040	A A	ATGTGCCC others(414): Show ATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCAC CCATCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTG CTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCA CCCCCATGCCCGTGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCT CACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCC ATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCA CCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCAT GCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCACC CCTGCACCCACCCCCATGCCCG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	316	0.0032	421	c.765 others(438): Show c.765+1180_765+1181insCCACCCCTGCACCCACCCCCATGCCCGT GTGCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCA TCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTG CCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCACC CCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCA CCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCC CATGCCCGTGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACC CCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGC CCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(414): Show CCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCAC CATCACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCA TCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	297	0.0034	421	c.391 others(436): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CACCATCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCATC ACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(414): Show TATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATCACATGCATATATATATATGCATG TGATGCATATATATATGCATGTGATGCATATATATATGCATGTGATGCAT ATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATAT ATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATAT GCATGTGATGCATATATATATATGCATGTGATGCATATATATATGCATGT GATGCATATATATATATGCATGTGATGCATATATATATATGCATGTGATG CATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0034 a0001c0001t0009g0034	1	79	0.0127	421	c.-38 others(440): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATATGCATCACAT GCATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATATGCATCACATGCATATATATATATGCATCACATGCATATATAT ATATGCATCACATGCATATATATATGCATCACATGCATATATATATATGC ATCACATGCATATATATATGCATCACATGCATATATATATGCATCACATG CATATATATATATGCATGTGATGCATATATATATATGCATCACATGCATA TATATATATGCATCACATGCATATATATATATGCATCACATGCATATATA TATATGCATCACATGCATATATATATGCATCACATGCATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01123.hp2 HG01261.hp1 others(3): Show HG00438.hp2 HG01123.hp2 HG01261.hp1 HG01993.hp1 HG02273.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0079 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0126	6	246	0.0244	421	c.112 others(438): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG06807.hp1 HG00438.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0152 a0001c0001t0002g0153	2	242	0.0083	421	c.112 others(438): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0182 a0001c0001t0005g0182	1	241	0.0041	421	c.112 others(438): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	421	c.26 others(432): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	421	c.26 others(432): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	421	c.26 others(432): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	421	c.26 others(432): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGGGA others(414): Show TGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTG AGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGG TAGTGAGTCGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGG TGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTT GGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTG AGTGGGGGAACAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	228	0.0044	421	c.153 others(440): Show c.1539+1694_1539+1695insGGACAGTGGTGAGTGGGGGGACAGTG GCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACA GTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTG GGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTGGGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGA GTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGT GAGTCGGGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMD2_chr7_4900998_4964187	4960081	T T	TGGGGGAC others(414): Show TGGGGGACCTGGGGGTGGAGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGA GTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAA GTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAG TGGGGGTGTTGGAGGGAGTGGGGGGACCTGGGGGTGGAGGGAGTGGGAAG TCGGGGTGTTGGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACCT TGGAGGTTGGGGGAGTGGGAAGAGTGGGGGGGTGTTGGAGGGAGTGGGGG ACCTGGGGGTGGAGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGG GGGGTTAGTCGGGAAGAGAGGGACTTGGAGGTTGGGGGGTGGAGTTGGGA GTGGGGGGTGTTGGAGGGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0304 a0001c0001t0004g0304	1	380	0.0026	421	c.-10 others(432): Show c.-1065_-1064insCACTCCCTCCAACACCCCCCACTCCCAACTCCAC CCCCCAACCTCCAAGTCCCTCTCTTCCCGACTAACCCCCCTCACTCCCCC CCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACTCCCT CCAACACCCCCCCACTCTTCCCACTCCCCCAACCTCCAAGGTCCCTCTCT TCCCACTAACCCCCTCACTCCCCCCCCCAACACCCCGACTTCCCACTCCC TCCACCCCCAGGTCCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCC CCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCC CAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAAC ACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		895		chr7	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(414): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01123.hp1 HG01261.hp1 others(3): Show HG00438.hp1 HG01123.hp1 HG01261.hp1 HG01993.hp1 HG02273.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0001g0003 a0001c0001t0002g0002	6	228	0.0263	421	c.18 others(432): Show c.1863_*1864insTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCT GGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACT CGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAG CCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCC AGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCT CAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCT ACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar

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