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
KCNJ6_chr21_37602373_37921457	37756735	C C	CGGAGTGA others(213): Show CGGAGTGAGCACTCCCTCACAGCATGATGGTTCCAGCCCAAGTGAGCACT CCCTCACAGATTCCAGCCCGGAGTGAGCACTCCCTCACAGTGTGATGATT CCAGCCCGGAGTGAGCTCTCCCTCACAGTGTGATGATTCCAGCCCAGAGT GAGCACTCTCTCACAGCGTGATGATTCCAGCCTGGAGTGAGCACTCCCTC ACAGCGTGATGATTCCAGCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0167 a0001c0001t0013g0167	1	198	0.0051	220	c.26- others(237): Show c.26-41605_26-41604insAGGCTGGAATCATCACGCTGTGAGGGAG TGCTCACTCCAGGCTGGAATCATCACGCTGTGAGAGAGTGCTCACTCTGG GCTGGAATCATCACACTGTGAGGGAGAGCTCACTCCGGGCTGGAATCATC ACACTGTGAGGGAGTGCTCACTCCGGGCTGGAATCTGTGAGGGAGTGCTC ACTTGGGCTGGAACCATCATGCTGTGAGGGAGTGCTCACTCC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(213): Show ATATACGTATGTATGTATACATAGATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0140 a0001c0001t0062g0140	1	400	0.0025	220	c.37 others(229): Show c.370_*371insTATACGTATGTATGTATACATAGATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(213): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00741.hp1 others(35): Show HG00099.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01109.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02109.hp2 HG02148.hp2 HG02602.hp1 HG02723.hp1 HG02735.hp1 HG02965.hp1 HG03540.hp2 HG03834.hp1 HG04199.hp1 NA18943.hp2 NA18999.hp2 NA19000.hp2 NA19043.hp1 NA19084.hp2 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 others(8): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0039 a0001c0001t0052 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0067 a0001c0002t0003 a0001c0002t0015	a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0083 others(27): Show a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0083 a0001c0001t0003g0101 a0001c0001t0003g0113 a0001c0001t0003g0132 a0001c0001t0003g0139 a0001c0001t0003g0146 a0001c0001t0003g0151 a0001c0001t0003g0223 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0068 a0001c0001t0009g0293 a0001c0001t0009g0317 a0001c0001t0015g0105 a0001c0001t0015g0116 a0001c0001t0015g0126 a0001c0001t0015g0144 a0001c0001t0039g0005 a0001c0001t0039g0007 a0001c0001t0052g0006 a0001c0001t0059g0147 a0001c0001t0060g0007 a0001c0001t0063g0136 a0001c0001t0067g0131 a0001c0002t0003g0186 a0001c0002t0015g0179	38	400	0.0950	220	c.37 others(229): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(213): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTAT ACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG01074.hp1 HG01255.hp1 others(9): Show HG00438.hp1 HG01074.hp1 HG01255.hp1 HG01515.hp1 HG02970.hp1 NA18939.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA19005.hp1 NA19030.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0016 a0001c0001t0021 a0001c0001t0072 others(3): Show a0001c0001t0016 a0001c0001t0021 a0001c0001t0072 a0001c0001t0073 a0001c0001t0086 a0001c0005t0021	a0001c0001t0016g0016 a0001c0001t0016g0138 a0001c0001t0016g0145 others(8): Show a0001c0001t0016g0016 a0001c0001t0016g0138 a0001c0001t0016g0145 a0001c0001t0016g0152 a0001c0001t0021g0262 a0001c0001t0021g0265 a0001c0001t0072g0096 a0001c0001t0073g0091 a0001c0001t0086g0008 a0001c0005t0021g0221 a0001c0005t0021g0306	12	400	0.0300	220	c.37 others(229): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACGT others(213): Show ATATACGTATGTATGTATACATATATGTGTATATATACGTGTGTATGTAT ACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATAT ACGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACAT ATATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGT GTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 NA18612.hp1 HG04184.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0102 a0001c0001t0076 a0001c0001t0102	a0001c0001t0076g0118 a0001c0001t0102g0004 a0001c0001t0076g0118 a0001c0001t0102g0004	2	400	0.0050	220	c.37 others(229): Show c.370_*371insTATACGTATGTATGTATACATATATGTGTATATATA CGTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATA TATGTGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTG TGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
LAMA5_chr20_62304065_62372312	62360612	G G	GGATGGAT others(213): Show GGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGTGGGTGG GTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGGT GGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGTGGGTGG GTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGGT GGATGGGTGGGTGGAGGGATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0012 a0012	a0012c0108 a0012c0108	a0012c0108t0001 a0012c0108t0001	a0012c0108t0001g0148 a0012c0108t0001g0148	1	186	0.0054	220	c.450 others(237): Show c.450+1787_450+1788insTATCCCTCCACCCACCCATCCACCCACC CATCTATTCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCA CCCACCCATCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCACC CATCTATTCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCA CCCACCCATCTATTCCTCCACCCACCCATCCACCTATCCATC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183149689	C C	CCTCTCCT others(213): Show CCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACAC AGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTGTCC TCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGC CCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCA CACCACACAGCTCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0240 a0003c0004t0007g0240	1	308	0.0033	220	c.68 others(231): Show c.6899_*6900insCTCTCCTCACACACCACACAGCTCACATCCCTCT CCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAG CTCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTC CTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCCCACA CCCCTCTCCTCCTCACACCACACAGCTCACACCCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4098		chr1	TogoVar
LARGE1_chr22_33267509_33925476	33565650	T T	TGACACTC others(213): Show TGACACTCTTCACCTCCTAGTCAAGGAGGACCTAGTCATCACGCGACACT CTTCACCTGACAGCAATAGAGGACACACACATAGGACAGAAGGAGGACCT AGTCATCACGCGACACTCTTCACCTCCTAGTCAAGGAGGACCTAGTCATC ACGCGACACTCTTCACCTGACAGCAATAGAGGACACACACATAGGACAGA AGGAGGACCTAGTCATCACGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02970.hp2 HG02055.hp1 HG02451.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0001 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0072 a0001c0001t0013g0095 a0001c0001t0014g0075 a0001c0001t0001g0072 a0001c0001t0013g0095 a0001c0001t0014g0075	3	110	0.0273	220	c.616 others(235): Show c.616-632_616-631insGCGTGATGACTAGGTCCTCCTTCTGTCCTA TGTGTGTGTCCTCTATTGCTGTCAGGTGAAGAGTGTCGCGTGATGACTAG GTCCTCCTTGACTAGGAGGTGAAGAGTGTCGCGTGATGACTAGGTCCTCC TTCTGTCCTATGTGTGTGTCCTCTATTGCTGTCAGGTGAAGAGTGTCGCG TGATGACTAGGTCCTCCTTGACTAGGAGGTGAAGAGTGTC	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	5/14			chr22	TogoVar
LHPP_chr10_124456823_124619141	124507139	T T	TAGGGAGG others(213): Show TAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGAGGGGGGGTAAGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGAGGGGGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	260	0.0039	220	c.624 others(237): Show c.624+9011_624+9012insAGGGAGGATTTCAGGTGAGGGGGGTAGG GAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGGTAAG GAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507796	G G	GTGGAGGG others(213): Show GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTC GGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGT GGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	260	0.0039	220	c.625 others(237): Show c.625-9384_625-9383insTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088631	C C	CAGGGAAG others(213): Show CAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCC AGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTG CAGAGTGGCCAGGATCTATGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCC AGGGTCTTTGCAGGGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTG CAGAGTGGCCAGGATCTGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	220	c.-44 others(231): Show c.-4413_-4412insTCACAGATCCTGGCCACTCTGCACAGATCCTGGC CTCCCTGCACAGATCCTGGCCACCCTGCAAAGACCCTGGCCACTCTGCAC AGACCCTGCCCTCCCTGCATAGATCCTGGCCACTCTGCACAGATCCTGGC CACTCTGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTGCAC AGATCCTGGCCACTCTGCACAGATCCTGCCTTCCCT	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4234		chr20	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088656	A A	AGGGCAGG others(213): Show AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTATGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGGTCTTTGCAGGG TGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01106.hp2 others(20): Show HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01496.hp2 HG01934.hp2 HG02074.hp2 HG02602.hp2 HG02738.hp1 HG03490.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18940.hp1 NA18942.hp2 NA18961.hp2 NA18999.hp2 NA19011.hp2 NA19060.hp2 NA19064.hp1 NA19077.hp1 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0001 a0004c0005t0001g0008 a0001c0001t0001g0001 a0004c0005t0001g0008	23	102	0.2255	220	c.-44 others(231): Show c.-4438_-4437insACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGACCCTGCCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACCCTGCAAAGACC CTGGCCACTCTGCACAGACCCTGCCCTCCCTGCATAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGCCC	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4259		chr20	TogoVar
LLGL2_chr17_75520697_75580209	75558824	A A	ACGCCTCC others(213): Show ACGCCTCCTCCATCCACACCACGCCTCCTCCATCCGCACCCCGCCTCCTC CATCCGCACCCCGCCTCCTCCATCAGCACCCCGCCTCCTCCATCCACACC ATGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTC CATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACC CCGCCTCCTCCATCCGCACCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0313 a0002c0006t0003g0313	1	382	0.0026	220	c.371 others(235): Show c.371+211_371+212insACACCACGCCTCCTCCATCCGCACCCCGCC TCCTCCATCCGCACCCCGCCTCCTCCATCAGCACCCCGCCTCCTCCATCC ACACCATGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCC TCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCC GCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCC	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
LLGL2_chr17_75520697_75580209	75558824	A A	ACGCCTCC others(213): Show ACGCCTCCTCCATCCACACCACGCCTCCTCCATCCGCACCCCGCCTCCTC CATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCACACC ATGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTC CATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACC CCGCCTCCTCCATCCGCACCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG02572.hp1 others(7): Show HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02717.hp1 HG03041.hp2 HG03516.hp2 HG06807.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0048 a0002c0004 a0002c0006 a0002c0048	a0002c0004t0003 a0002c0006t0003 a0002c0048t0004 a0002c0004t0003 a0002c0006t0003 a0002c0048t0004	a0002c0004t0003g0089 a0002c0006t0003g0004 a0002c0006t0003g0085 others(6): Show a0002c0004t0003g0089 a0002c0006t0003g0004 a0002c0006t0003g0085 a0002c0006t0003g0088 a0002c0006t0003g0090 a0002c0006t0003g0093 a0002c0006t0003g0098 a0002c0006t0003g0210 a0002c0048t0004g0087	10	382	0.0262	220	c.371 others(235): Show c.371+211_371+212insACACCACGCCTCCTCCATCCGCACCCCGCC TCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCC ACACCATGCCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCC TCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCC GCACCCCGCCTCCTCCATCCGCACCCCGCCTCCTCCATCC	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
LMF1_chr16_848634_975984	953621	T T	TCCACACC others(213): Show TCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCT TCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCTTCCTACACGTTCACACAGACACCC CAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTC CTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18983.hp2 NA18966.hp2 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0004t0001g0089 a0001c0004t0001g0091	2	294	0.0068	220	c.503 others(235): Show c.503+735_503+736insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT TTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTG TGTGAACGTGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTA GGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTT GGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	961264	C C	CAGACTCA others(213): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA GACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGA CAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0120 a0002c0007t0001g0120	1	294	0.0034	220	c.194 others(237): Show c.194-6599_194-6598insCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGG GTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGGGTCGTGATCCCGTG CTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGA GTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11494117	G G	GGGGGCGG others(213): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGGCGGG GCAGTGGCGTGGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCG TGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGG GGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCG TGGGGGGCGGGGCAGTGGCGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0060 a0060	a0060c0107 a0060c0107	a0060c0107t0004 a0060c0107t0004	a0060c0107t0004g0115 a0060c0107t0004g0115	1	310	0.0032	220	c.143 others(237): Show c.1432-322_1432-321insACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC CCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCCACGCCACTGCCCCGCCC CCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LRPAP1_chr4_3498612_3537422	3509211	A A	ATGGACAC others(213): Show ATGGACACCGGAGACTATTGAGACGCCGACTGGAGTCACACACGGCAGTC AACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGG CAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACA CACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAG TCACACACGGCAGTCAACGCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0101 a0001c0001t0085g0101	1	420	0.0024	220	c.37 others(231): Show c.3762_*3763insCGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGT CTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTC GGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTC CAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGT GACTCCAGTCGGCGTCTCAATAGTCTCCGGTGTCCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3762		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509211	A A	ATGGACAC others(213): Show ATGGACACCGGAGACTATTGAGACGCCGACTGGAGTCACACACGGCAGTC AACGCGTGGACACCGGAGACTGCTGAGACGCTGACTGGAGTCACACACGG CAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACA CACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAG TCACACACGGCAGTCAACGCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0297 a0001c0001t0057g0297	1	420	0.0024	220	c.37 others(231): Show c.3762_*3763insCGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGT CTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTC GGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTC CAGTCAGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGT GACTCCAGTCGGCGTCTCAATAGTCTCCGGTGTCCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3762		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509228	T T	TTGAGACG others(213): Show TTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp2 HG02040.hp2 HG02080.hp2 others(12): Show HG02027.hp2 HG02040.hp2 HG02080.hp2 HG02976.hp1 HG03139.hp2 NA18952.hp2 NA18985.hp2 NA18990.hp2 NA18998.hp1 NA19005.hp2 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19064.hp1 NA19090.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0020 a0001c0001 a0014c0020	a0001c0001t0011 a0001c0001t0025 a0001c0001t0044 others(4): Show a0001c0001t0011 a0001c0001t0025 a0001c0001t0044 a0001c0001t0058 a0001c0001t0059 a0001c0001t0093 a0014c0020t0011	a0001c0001t0011g0027 a0001c0001t0011g0029 a0001c0001t0011g0099 others(10): Show a0001c0001t0011g0027 a0001c0001t0011g0029 a0001c0001t0011g0099 a0001c0001t0011g0168 a0001c0001t0025g0294 a0001c0001t0025g0295 a0001c0001t0025g0298 a0001c0001t0044g0092 a0001c0001t0044g0104 a0001c0001t0058g0296 a0001c0001t0059g0299 a0001c0001t0093g0103 a0014c0020t0011g0307	15	420	0.0357	220	c.37 others(231): Show c.3745_*3746insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3745		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509283	T T	TTGAGACG others(213): Show TTGAGACGCCGATTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0255 a0001c0001t0074g0255	1	420	0.0024	220	c.36 others(231): Show c.3690_*3691insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAATCGGCGTCTCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3690		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509500	C C	CTGCTGAG others(213): Show CTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACC GGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGG ACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACG CGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGT CAACGCGTGGACACCGGAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG01074.hp2 others(4): Show HG00544.hp1 HG00558.hp1 HG01074.hp2 HG01934.hp1 HG02015.hp2 HG02300.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0077 a0001c0001t0014 a0001c0001t0077	a0001c0001t0014g0049 a0001c0001t0014g0054 a0001c0001t0014g0250 others(2): Show a0001c0001t0014g0049 a0001c0001t0014g0054 a0001c0001t0014g0250 a0001c0001t0014g0256 a0001c0001t0077g0269	7	420	0.0167	220	c.34 others(231): Show c.3473_*3474insTTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTG ACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGT GTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACT GCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGT TGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3473		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509555	C C	CTGCTGAG others(213): Show CTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACC GGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGG ACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACG CGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGT CAACGCGTGGACACCGGAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0050 a0001c0001t0041g0050	2	420	0.0048	220	c.34 others(231): Show c.3418_*3419insTTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTG ACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGT GTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACT GCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGT TGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3418		chr4	TogoVar
LRRC27_chr10_132327193_132386508	132359037	G G	GGAGCGTG others(213): Show GGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGGTG GTGGAGCAGCGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCG AGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGG AGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTG TGGGGAGGAGCCGAGGTGGTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0012 a0002c0004t0022g0012	1	290	0.0035	220	c.117 others(239): Show c.1171-2416_1171-2415insGTGGGGAGGAGCCGAGGTGGTGGAGC GTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGGT GGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAG GTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAG CCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LYPD8_chr1_248734415_248760759	248747224	C C	CCAGCACC others(213): Show CCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCA TCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAC CCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCG CACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCA GGGCATCGCCCGCACGGCCAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	374	0.0027	220	c.337 others(237): Show c.337+1064_337+1065insCTGGCCGTGCGGGCGATGCCCTGGGTGG GTGCTGGCCGTGCGGGCGATGCCCTGGGTGGGTGCTGGCCGTGCGGGCGA TGCCCTGGGTGGGTGCTGGCCGTGCGGGGGATGCCCTGGGTGGGTGCTGG CCGTGCGGGCGATGCCCTGGGTGGGTGCTGGCCGTGCGGGCGATGCCCTG GGTGGGTGCTGGCCGTGCGGGCGATGCCCTGGGTGGGTGCTG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1940927	C C	CTCCTCCC others(213): Show CTCCTCCCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCC TCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCTCCCAGGCCTCAC CCTCCTCTTCCTCCCCCCGCAGGCCTCAGCCTCCTCTTCCTCTCCCAGGC CTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCCCC CCGCAGGCCTCAGCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG02258.hp2 others(5): Show HG01109.hp1 HG01167.hp2 HG02258.hp2 HG02559.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 others(5): Show a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0168	8	264	0.0303	220	c.159 others(239): Show c.1597-4031_1597-4030insAGAGGAGGCTGAGGCCTGCGGGGGGA GGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTG GGAGAGGAAGAGGAGGCTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAG GCCTGGGAGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTG AGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGGGAGGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1940935	C C	CCAGGCCT others(213): Show CCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTC CTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCC TCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAC CCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCTCCCAGGCCTC AGCCTCCTCTTCCTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	264	0.0038	220	c.159 others(239): Show c.1597-4039_1597-4038insCGGGGGGAGGAAGAGGAGGCTGAGGC CTGGGAGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAG GCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGG GTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGA GGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1940974	C C	CCCTCCTC others(213): Show CCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGG CCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCC GCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTC CTCTCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCC TCTTCCTCTCCCAGGCCTCAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp1 HG02145.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0243 a0001c0001t0001g0154 a0001c0001t0001g0243	2	264	0.0076	220	c.159 others(239): Show c.1597-4078_1597-4077insCTGAGGCCTGGGAGAGGAAGAGGAGG GTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGA GGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGG GAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGC GGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2035658	G G	GGGGACAG others(213): Show GGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02273.hp1 HG02257.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0031 a0002c0002t0001g0032	2	264	0.0076	220	c.121 others(241): Show c.1219-21236_1219-21017dupGACTTGTCAGTGCTCCCGCGCTCA TGCCTGGGAGCCTGGACCCCAGCTCTGTCCCGACTTGTCAGTGCTCCCGC GCTCATGCCTGGGAGCCTGGACCCCAGCTCTGTCCCGACTTGTCAGTGCT CCCGCGCTCATGCCTGGGAGCCTGGACCCCAGCTCTGTCCCGACTTGTCA GTGCTCCCGCGCTCATGCCTGGGAGCCTGGACCCCAGCTCTGTCCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(213): Show TCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAC ACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCTCACCCCAGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01081.hp2 HG00140.hp2 HG00735.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0041 a0001c0002t0001g0055 a0001c0002t0001g0011 a0001c0002t0001g0041 a0001c0002t0001g0055	3	388	0.0077	220	c.456 others(237): Show c.456+1538_456+1539insCCAGGCCCACCCCAGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACT CACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCCA others(213): Show CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACT CACCTGCAGGCCCACCCAGTCCCACACTCCAGACTCACCCGCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACA CTCCAGACTCACCCGCAGGCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0276 a0001c0003t0001g0276	1	388	0.0026	220	c.456 others(237): Show c.456+1574_456+1575insCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCA GGCCCACCCAGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCCA others(213): Show CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACA CTCCAGACTCACCCGCAGGCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	388	0.0026	220	c.456 others(237): Show c.456+1574_456+1575insCGCAGGCCCACCCGGTCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334128	C C	CCATGCCC others(213): Show CCATGCCCGTGCTCACCTCTGCACCCACCCCATGCCCACCCCCATGCCCA CCTGTGCTCACTCCCGTGCCCATGTGCCCACCCCTGCACCCACCCCCATG CCCGTGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCTCACCCC TGCACCCACCCCCGTGCCCACCATGTGCCCACCCCTGCATCCACCCCCAT GCCCACCGTGTGCTCACCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01074.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0147 a0001c0001t0001g0148	2	388	0.0052	220	c.765 others(237): Show c.765+1263_765+1264insCATGCCCGTGCTCACCTCTGCACCCACC CCATGCCCACCCCCATGCCCACCTGTGCTCACTCCCGTGCCCATGTGCCC ACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCCATGCCCACCCCA TGCCCACCATGTGCTCACCCCTGCACCCACCCCCGTGCCCACCATGTGCC CACCCCTGCATCCACCCCCATGCCCACCGTGTGCTCACCCCT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8			chr4	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(213): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGACAGG GGAGGGGAAGGGAGAGGGGAGAGGAGAGGGGAGGGGAGAAGGGAGGGGAG AGGGGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03239.hp2 HG00741.hp2 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0072 a0002c0002t0001g0018 a0001c0001t0001g0072 a0002c0002t0001g0018	2	104	0.0192	220	c.313 others(241): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCTTCTCCCCTCCCCTCTCCTCTCCCCTCTCCCTTCCCCTCCCCT GTCCCCTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCT TCCCTCCCCCTCCCCTTCACTCTCTCCTGCCCTCTACCCTCCCCTTTCCC CTGCCCTGTCCCCTCCCCTCTCTCCTCCCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI3_chr1_113385515_113690923	113416418	A A	AATATATA others(213): Show AATATATATTAATTATATATTATTTATATATCAATTATATATTAATTATA TATAATTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTA CAGTTAATATATATTAATATATAACTATATATTAATTATATATATTAATA TATATAATATATATTAATTATATATATTAATATATATTAATTATATATAT TAATTATATATATTAATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	236	0.0042	220	c.316 others(239): Show c.316+25071_316+25072insATATATTAATTATATATTATTTATAT ATCAATTATATATTAATTATATATAATTAATTTTATATATTAATTCTATA TAGTTAATTATATATTAATTACAGTTAATATATATTAATATATAACTATA TATTAATTATATATATTAATATATATAATATATATTAATTATATATATTA ATATATATTAATTATATATATTAATTATATATATTAATATATAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(213): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGG GGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGG AGAGGGGGGAGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	163	0.0061	220	c.525 others(237): Show c.525+8627_525+8628insCCCTCTCCCCCTCCCCCCTCTCCCCCCC TCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCCCCCCTCTCCCCTCTCCCCCCTCCCCCCTCTCCCC CCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19478005	G G	GGAGAGAG others(213): Show GGAGAGAGGGGGGAGGGGAGAGAGGGGGAGGGGGGAGAGGGGGGAGGGGG GAGAGGGGGGAGGGGGAGAGGGGGGGAGGGGGAGAGGGGGGGAGGGGGAG AGGGGGGAGGGGGGAGAGGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAG GGGGGAGGGGGAGAGGGGGGAGGGGGAGGGGGGAGGGGGAGAGGGGGGAG GTGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	163	0.0061	220	c.525 others(237): Show c.525+8476_525+8477insTCCCCCCTCCCCCCTCCCCACCTCCCCC CTCTCCCCCTCCCCCCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCTCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCCCCC TCCCCCCCTCTCCCCCTCCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCTCTCTCCCCTCCCCCCTCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAGC others(213): Show CTCCCAGCCCCCTCCACCTCCCCACAGCTCCCCTCCCAGCCCCCTCCACC TCCCCCAGTATCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCTTCCCA GCCCCCTCCACCTCCCCACAGCTCCCCTCCCAGCCCCCTCCACCTCCCCA CAGCTCCCCTCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCC CTCCACCTTTCCCAGCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	428	0.0023	220	c.-45 others(231): Show c.-4574_-4573insAGGGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGG ATGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGAGCTGTGGGGAGGTGGAG GGGGCTGGGAGGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAGGGTGCT GGGAAAGGTGGAGGGGGCTGGGAGGGATACTGGGGGAGGTGGAGGGGGCT GGGAGGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MBNL3_chrX_132364320_132494038	132396500	C C	CTATATAT others(213): Show CTATATATATTCCTATATATATTCCTATATATATTCATATATATATTCAT ATATATTCACATATATATATTCACATATATATTCACATATATATATTCAC ATATATATATTCATATATATATTCATATATAGATTCATATATATATATTC ATATATAGATTCATATATAGATTCATATATATATTCATATATATATTCAT ATATATATTCATATATATTCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0110 a0001c0001t0010g0110	1	191	0.0052	220	c.343 others(237): Show c.343-4167_343-4166insTGAATATATATGAATATATATATGAATA TATATATGAATATATATATGAATCTATATATGAATCTATATATGAATATA TATATATGAATCTATATATGAATATATATATGAATATATATATGTGAATA TATATATGTGAATATATATGTGAATATATATATGTGAATATATATGAATA TATATATGAATATATATAGGAATATATATAGGAATATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCOLN2_chr1_84920583_85002113	84987489	C C	CATATATG others(213): Show CATATATGTATATATAGATATATATACATATATACATATATACATATATG TATATATAGATATATATACATATATACATATATGTATATACCTATATACA TATATAGATATATACATATGTATATATGTATATAGATATACATACATAGA TATATACATATATGTATATATATACATATATGTATATCTATATACATATA TGTATATATATACATATATGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0286 a0001c0001t0006g0286	1	350	0.0029	220	c.77+ others(235): Show c.77+9306_77+9307insACATATATGTATATATATACATATATGTAT ATAGATATACATATATGTATATATATACATATATGTATATATCTATGTAT GTATATCTATATACATATATACATATGTATATATCTATATATGTATATAG GTATATACATATATGTATATATGTATATATATCTATATATACATATATGT ATATATGTATATATGTATATATATCTATATATACATATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3596464	A A	ATCTCCAC others(213): Show ATCTCCACCCCAGGGCACCCCGCGCCATCCCCTGCCCAGCCCCCGTCTCC ACCCCAGGGCACCCCGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCA GGGCACCCCGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCAC CCCGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCACCCCGCG CCATCCCCTGCCCAGCCCCCG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0081 a0081	a0081c0064 a0081c0064	a0081c0064t0035 a0081c0064t0035	a0081c0064t0035g0001 a0081c0064t0035g0001	1	292	0.0034	220	c.267 others(237): Show c.267-1018_267-1017insCGGGGGCTGGGCAGGGGATGGCGCGGGG TGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGCGGGGTGCCCT GGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGCGGGGTGCCCTGGGGTG GAGACGGGGGCTGGGCAGGGGATGGCGCGGGGTGCCCTGGGGTGGAGACG GGGGCTGGGCAGGGGATGGCGCGGGGTGCCCTGGGGTGGAGA	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	2/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3596500	C C	CAGCCCCC others(213): Show CAGCCCCCGTCTCCACCCCAGGGCACCCCGCGCCATCCCCTGCCCAGCCC CCGTCTCCACCCCAGGGCACCCTGCGCCATCCCCTGCCCAGCCCCCGTCT CCACCCCAGGGCACCCCGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCC CAGGGCACCCCGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGC ACCCTGCGCCATCCCCTGCCA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0042 a0042	a0042c0025 a0042c0025	a0042c0025t0001 a0042c0025t0001	a0042c0025t0001g0035 a0042c0025t0001g0035	1	292	0.0034	220	c.267 others(237): Show c.267-1054_267-1053insTGGCAGGGGATGGCGCAGGGTGCCCTGG GGTGGAGACGGGGGCTGGGCAGGGGATGGCGCGGGGTGCCCTGGGGTGGA GACGGGGGCTGGGCAGGGGATGGCGCGGGGTGCCCTGGGGTGGAGACGGG GGCTGGGCAGGGGATGGCGCAGGGTGCCCTGGGGTGGAGACGGGGGCTGG GCAGGGGATGGCGCGGGGTGCCCTGGGGTGGAGACGGGGGCT	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	2/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3596528	C C	CGCGCCAT others(213): Show CGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCACCCCGCGCC ATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCACCCTGCGCCATCCCC TGCCCAGCCCCCGTCTCCACCCCAGGGCACCCTGCGCCATCCCCTGCCCA GACCCCGTCTCCACCCCAGGGCACCCCGCGCCATCCCCTGCCCAGCCCCC GTCTCCACCCCAGGGCACCCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0002 a0014c0012t0002	a0014c0012t0002g0120 a0014c0012t0002g0120	1	292	0.0034	220	c.267 others(237): Show c.267-1082_267-1081insAGGGTGCCCTGGGGTGGAGACGGGGGCT GGGCAGGGGATGGCGCGGGGTGCCCTGGGGTGGAGACGGGGTCTGGGCAG GGGATGGCGCAGGGTGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATG GCGCAGGGTGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGCGG GGTGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	2/36			chr1	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(213): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03669.hp2 HG03942.hp1 HG02622.hp1 HG03669.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0125 a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0125	3	181	0.0166	220	c.107 others(239): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237542803	G G	GGGCACGG others(213): Show GGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGGGCACAGTGGTGAGTGGAGACAGTGGTGAGTTGGGGGACAGTAGTG AGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGGGGACAGTAGTGAGTAGGGGACAGTGGTGAGTTGGGGCACAGTGGT GAGTGGGGACAGTGGTGAGTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG03139.hp1 others(1): Show HG02723.hp2 HG02896.hp2 HG03139.hp1 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0003c0003 a0002c0008 a0003c0003	a0002c0008t0002 a0002c0008t0003 a0003c0003t0002 a0002c0008t0002 a0002c0008t0003 a0003c0003t0002	a0002c0008t0002g0092 a0002c0008t0002g0093 a0002c0008t0003g0024 others(1): Show a0002c0008t0002g0092 a0002c0008t0002g0093 a0002c0008t0003g0024 a0003c0003t0002g0110	4	286	0.0140	220	c.153 others(237): Show c.1539+145_1539+146insGCACGGTAGTGAGTGGGGGGACAGTGGT GAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTGGAGACAGTGG TGAGTTGGGGGACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGGGGACAGTAGTGAGTAGGGGACAGTG GTGAGTTGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543404	T T	TGGGGACA others(213): Show TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCA AGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGT GAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGGCACGGTAGTGAGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0280 a0001c0015t0001g0280	1	286	0.0035	220	c.153 others(237): Show c.1539+749_1539+750insACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED2_chr11_30405224_30591353	30557225	A A	AATATATA others(213): Show AATATATATATATTATATATATTATATAATAAATATATATATAATATATA TATAATATATATATTATATATATTATATATAATATATATTATATATATAA TATATATAATATATATATTATATATATATAATATATATATTATATATATT ATATATAATATATATTATATATATATAATATATATATAATATATATATTA TATATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	262	0.0038	220	c.129 others(239): Show c.129-21051_129-21050insAATATATATATTATATATATATAATA TATATATTATATATATATTATATATATATAATATATATTATATATAATAT ATATAATATATATATTATATATATATAATATATATATTATATATATTATA TATATAATATATATTATATATAATATATATAATATATATATTATATATAT ATTATATATATATTTATTATATAATATATATAATATATATATAT	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	2/6			chr11	TogoVar
MPPED2_chr11_30405224_30591353	30557225	A A	AATATATA others(213): Show AATATATATATATTATATATATTATATAATAAATATATATATAATATATA TATAATATATATATTATATATATTATATATAATATATATTATATATATAA TATATATATAATATATATATTATATATATATAATATATATATTATATATA TTATATATAATATATATTATATATATATAATATATATATAATATATATAT TATATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03139.hp1 HG02109.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0170 a0001c0001t0005g0153 a0001c0001t0005g0170	2	262	0.0076	220	c.129 others(239): Show c.129-21051_129-21050insAATATATATATTATATATATAATATA TATATTATATATATATTATATATATATAATATATATTATATATAATATAT ATAATATATATATTATATATATATAATATATATATTATATATATATTATA TATATAATATATATTATATATAATATATATAATATATATATTATATATAT ATTATATATATATTTATTATATAATATATATAATATATATATAT	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	2/6			chr11	TogoVar
MPPED2_chr11_30405224_30591353	30557225	A A	AATATATA others(213): Show AATATATATATATTATATATATTATATAATAAATATATATATAATATATA TATAATATATATATTATATATATTATATATAATATATATTATATATATAA TATATATATAATATATATATTTTATATATATAATATATATATTATATATA TTATATATAATATATATTATATATATATAATATATATATAATATATATAT TATATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	262	0.0038	220	c.129 others(239): Show c.129-21051_129-21050insAATATATATATTATATATATAATATA TATATTATATATATATTATATATATATAATATATATTATATATAATATAT ATAATATATATATTATATATATAAAATATATATATTATATATATATTATA TATATAATATATATTATATATAATATATATAATATATATATTATATATAT ATTATATATATATTTATTATATAATATATATAATATATATATAT	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	2/6			chr11	TogoVar
MSH4_chr1_75791882_75918242	75885916	A A	ATATATAT others(213): Show ATATATATGATGTATTATTTAGCATATATAGTATATATGATGTATTATAT AGCATATATAGTATATATGATGTATTATATATAGCATATATAGTATATAT GATGTATTATATATAGCATGTATAGTATATATGATGTATTATATATAGCA TGTATAGTATATATGATGTATTATATATAGCATGTATAGTATATATGATG TATTATATATAGCATGTATAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18961.hp2 NA18959.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0299 a0001c0002t0001g0285 a0001c0002t0001g0299	2	332	0.0060	220	c.210 others(239): Show c.2107+2112_2107+2113insTTAGCATATATAGTATATATGATGTA TTATATAGCATATATAGTATATATGATGTATTATATATAGCATATATAGT ATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATAT ATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATAT ATGATGTATTATATATAGCATGTATAGTATATATGATGTATTAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar

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