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
TAF4_chr20_61969798_62070881	62057665	G G	GGGGGGCC others(359): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCA GGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAG GACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGC CAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGC CACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	314	0.0032	366	c.136 others(385): Show c.1360+6785_1360+6786insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGA GCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAG GTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTA GACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCCC CATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCT TGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACC TGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48638361	C C	CCGACACT others(359): Show CCGACACTAAGCCCTGGGACACCGCACACAGGGGGGACCCCGACACTAAG CCCTGGGACACCACACACAGGCGGGACCCCCCCCCATCCCCCGACACTAA GCCCTGGGTCACCGCACACAGGGGGGACCCCAACACTAAGCCCTGGGACA CCACACACAGGGGGGACCCCGACACTAAGCCCTGGGACACCACACACAGG CGGGACCCCGACACTAAGCCCTGGGTCACCACACACAGGCAATACCCCTC CCCTGACACTAAGCCACACATAGGCAACAACCCCCCACACACACTAAGCC CTGGGCCACACACAGGCAATACCACCCCCCCCGACACTAAGCCCTGGGAC ACCGCACACAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG03540.hp1 HG02615.hp1 HG02647.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015	a0001c0001t0002g0074 a0001c0001t0003g0238 a0001c0001t0015g0005 a0001c0001t0002g0074 a0001c0001t0003g0238 a0001c0001t0015g0005	3	258	0.0116	366	c.113 others(383): Show c.113-8235_113-8234insGACACTAAGCCCTGGGACACCGCACACA GGGGGGACCCCGACACTAAGCCCTGGGACACCACACACAGGCGGGACCCC CCCCCATCCCCCGACACTAAGCCCTGGGTCACCGCACACAGGGGGGACCC CAACACTAAGCCCTGGGACACCACACACAGGGGGGACCCCGACACTAAGC CCTGGGACACCACACACAGGCGGGACCCCGACACTAAGCCCTGGGTCACC ACACACAGGCAATACCCCTCCCCTGACACTAAGCCACACATAGGCAACAA CCCCCCACACACACTAAGCCCTGGGCCACACACAGGCAATACCACCCCCC CCGACACTAAGCCCTGGGACACCGCACACAGGGGGGAC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48638361	C C	CCGACACT others(359): Show CCGACACTAAGCCCTGGGACACCGCACACAGGGGGGACCCCGACACTAAG CCCTGGGACACCACACACAGGCGGGACCCCCCCCCATCCCCCGACACTAA GCCCTGGGTCACCGCACACAGGGGGGACCCCAACACTAAGCCCTGGGACA CCACACACAGGGGGGACCCCGACACTAAGCCCTGGGACACCACACACAGG GGGGACCCCGACACTAAGCCCTGGGTCACCACACACAGGCAATACCCCTC CCCTGACACTAAGCCACACATAGGCAACAACCCCCCACACACACTAAGCC CTGGGCCACACACAGGCAATACCACCCCCCCCGACACTAAGCCCTGGGAC ACCGCACACAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(42): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG01167.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02300.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18612.hp1 NA18944.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19066.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0024 a0001c0001t0026 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0064 others(42): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0060 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0139 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0235 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0004g0199 a0001c0001t0005g0119 a0001c0001t0005g0143 a0001c0001t0006g0078 a0001c0001t0008g0087 a0001c0001t0024g0202 a0001c0001t0026g0126 a0001c0001t0035g0227 a0001c0002t0001g0203 a0001c0002t0002g0091	45	258	0.1744	366	c.113 others(383): Show c.113-8235_113-8234insGACACTAAGCCCTGGGACACCGCACACA GGGGGGACCCCGACACTAAGCCCTGGGACACCACACACAGGCGGGACCCC CCCCCATCCCCCGACACTAAGCCCTGGGTCACCGCACACAGGGGGGACCC CAACACTAAGCCCTGGGACACCACACACAGGGGGGACCCCGACACTAAGC CCTGGGACACCACACACAGGGGGGACCCCGACACTAAGCCCTGGGTCACC ACACACAGGCAATACCCCTCCCCTGACACTAAGCCACACATAGGCAACAA CCCCCCACACACACTAAGCCCTGGGCCACACACAGGCAATACCACCCCCC CCGACACTAAGCCCTGGGACACCGCACACAGGGGGGAC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TARS3_chr15_101648596_101729473	101692272	C C	CCAAGCTC others(359): Show CCAAGCTCTCTGTGGGTTCTGGTATTACTACTCCATCTCCTCACTTCTCT CCTCCACGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCCATCTC CTCACTTCTCTCCTCCATGGCTCCAAGCTCTCTGTGGGTTCTGGTATTAC TACTCCATCTCCTCACTTCTCTCCTCCACGGCTCCAAGCTCTCTGTGGGT TCTGGTATTACTACTCCATCTCCTCACTTCTCTCCTCCACGGCTCCAAGC TCTCTGTGGGTTCTGGTATTACTACTCCATCTCCTCACTTCTCTCCTCCA CGGCTCCAAGCTCTCTGTGGGTTCTGGTATTACTACTCCATCTCCTCACT TCTCTCCTCCACGGCTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0012 a0005c0007t0012	a0005c0007t0012g0013 a0005c0007t0012g0013	1	278	0.0036	366	c.132 others(385): Show c.1321-6211_1321-6210insTAGCCGTGGAGGAGAGAAGTGAGGAG ATGGAGTAGTAATACCAGAACCCACAGAGAGCTTGGAGCCGTGGAGGAGA GAAGTGAGGAGATGGAGTAGTAATACCAGAACCCACAGAGAGCTTGGAGC CGTGGAGGAGAGAAGTGAGGAGATGGAGTAGTAATACCAGAACCCACAGA GAGCTTGGAGCCGTGGAGGAGAGAAGTGAGGAGATGGAGTAGTAATACCA GAACCCACAGAGAGCTTGGAGCCATGGAGGAGAGAAGTGAGGAGATGGAG TAGTAATACCAGAACCCACAGAGAGCTTGGAGCCGTGGAGGAGAGAAGTG AGGAGATGGAGTAGTAATACCAGAACCCACAGAGAGCTTG	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	10/18			chr15	TogoVar
TERT_chr5_1248167_1300068	1272821	A A	ACATCAGA others(359): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCCATCCACAGT CACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCCATCCACAGTC ACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	392	0.0026	366	c.228 others(383): Show c.2287-542_2287-541insACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATG GCGGTTGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGG CGGTTGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TFEB_chr6_41678978_41740608	41738156	A A	ACATATAT others(359): Show ACATATATATATGCATATATATATGCATATATATATACATATATATATGC ATATATATATACATATATATGCATATATATATACATATATATATGCATAT ATATATACATATATATATGCATATATATACATATATATATGCATATATAT ATACATATATATATGCATATATATATACATATATATATGCATATATATAT ACATATATATATGCATATATATATATGCATATATATATACATATATATAT GCATATATATATACATATATATATGCATATATATATACATATATATGCAT ATATATATACATATATATGCATATATATATACATATATATATGCATATAT ATATACATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0272 a0001c0003t0001g0272	1	406	0.0025	366	c.-28 others(377): Show c.-2830_-2829insCATATATATATGTATATATATATGCATATATATA TGTATATATATATGCATATATATGTATATATATATGCATATATATGTATA TATATATGCATATATATATGTATATATATATGCATATATATATGTATATA TATATGCATATATATATATGCATATATATATGTATATATATATGCATATA TATATGTATATATATATGCATATATATATGTATATATATATGCATATATA TATGTATATATATGCATATATATATGTATATATATATGCATATATATATG TATATATATATGCATATATATGTATATATATATGCATATATATATGTATA TATATATGCATATATATATGCATATATATATG	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2549		chr6	TogoVar
TLL2_chr10_96359608_96518926	96415731	C C	CTCTTTCT others(359): Show CTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGACTCTCTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCC TTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCT GTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03209.hp2 HG02280.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0220 a0001c0002t0011g0242 a0001c0002t0011g0220 a0001c0002t0011g0242	2	256	0.0078	366	c.924 others(383): Show c.924-2416_924-2415insAAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGACAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA AAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAAGGAGACAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GTCAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEFF2_chr2_191944046_192199933	192131039	C C	CGCTTTTC others(359): Show CGCTTTTCTGGGGAAGGGGCAAGTACCCCAACCCCTTCTCTCCTTGTCTC TACCCCTTCTCTGCTTTTCTGGGAAAAGGGCAAGTACCCCAACCCCTTCT CTCCTTGTCTCTACCCCTTCTCTGCTTTTCTGGGGAAGGGGCAAGTACCC CAACCCCTTCTCTCCTTGTCTCTACCCCTTCTCTGCTTTTCTGGGAAAAG GGCAAGTACCCCAACCCCTTCTCTCCTTGTCTCTACCCCTTCTCTGCTTT TCTGGGGAAGGGGCAAGTACCCCAACCCCTTCTCTCCTTGTCTCTACCCC TTCTCTGCTTTTCTGGGAAAAGGGCAAGTACCCCAACCCCTTCTCTCCTT GTCTCTACCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01071.hp2 others(35): Show HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG02572.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG06807.hp2 NA18906.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(35): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0003g0164 a0001c0001t0004g0104 a0001c0001t0006g0089 a0002c0002t0001g0086 a0002c0002t0003g0163	38	164	0.2317	366	c.439 others(385): Show c.439+48628_439+48629insAGAGAAGGGGTAGAGACAAGGAGAGA AGGGGTTGGGGTACTTGCCCTTTTCCCAGAAAAGCAGAGAAGGGGTAGAG ACAAGGAGAGAAGGGGTTGGGGTACTTGCCCCTTCCCCAGAAAAGCAGAG AAGGGGTAGAGACAAGGAGAGAAGGGGTTGGGGTACTTGCCCTTTTCCCA GAAAAGCAGAGAAGGGGTAGAGACAAGGAGAGAAGGGGTTGGGGTACTTG CCCCTTCCCCAGAAAAGCAGAGAAGGGGTAGAGACAAGGAGAGAAGGGGT TGGGGTACTTGCCCTTTTCCCAGAAAAGCAGAGAAGGGGTAGAGACAAGG AGAGAAGGGGTTGGGGTACTTGCCCCTTCCCCAGAAAAGC	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	4/9			chr2	TogoVar
TMEFF2_chr2_191944046_192199933	192131039	C C	CGCTTTTC others(359): Show CGCTTTTCTGGGGAAGGGGCAAGTACCCCAACCCCTTCTCTCCTTGTCTC TACCCCTTCTCTGCTTTTCTGGGAAAAGGGCAAGTACCCCAACCCCTTGT CTCCTTGTCTCTACCCCTTCTCTGCTTTTCTGGGGAAGGGGCAAGTACCC CAACCCCTTCTCTCCTTGTCTCTACCCCTTCTCTGCTTTTCTGGGAAAAG GGCAAGTACCCCAACCCCTTCTCTCCTTGTCTCTACCCCTTCTCTGCTTT TCTGGGGAAGGGGCAAGTACCCCAACCCCTTCTCTCCTTGTCTCTACCCC TTCTCTGCTTTTCTGGGAAAAGGGCAAGTACCCCAACCCCTTCTCTCCTT GTCTCTACCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19030.hp1 HG02976.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0002g0067 a0001c0001t0001g0064 a0001c0001t0002g0067	2	164	0.0122	366	c.439 others(385): Show c.439+48628_439+48629insAGAGAAGGGGTAGAGACAAGGAGAGA AGGGGTTGGGGTACTTGCCCTTTTCCCAGAAAAGCAGAGAAGGGGTAGAG ACAAGGAGAGAAGGGGTTGGGGTACTTGCCCCTTCCCCAGAAAAGCAGAG AAGGGGTAGAGACAAGGAGAGAAGGGGTTGGGGTACTTGCCCTTTTCCCA GAAAAGCAGAGAAGGGGTAGAGACAAGGAGAGAAGGGGTTGGGGTACTTG CCCCTTCCCCAGAAAAGCAGAGAAGGGGTAGAGACAAGGAGACAAGGGGT TGGGGTACTTGCCCTTTTCCCAGAAAAGCAGAGAAGGGGTAGAGACAAGG AGAGAAGGGGTTGGGGTACTTGCCCCTTCCCCAGAAAAGC	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	4/9			chr2	TogoVar
TMEM185A_chrX_149591556_149636792	149605471	T T	TTGTCACT others(359): Show TTGTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCA CTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCT ATAGCCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCTATGGCC TCCCATGTCACTATGGCCTCCCATGTCACTTTCTATGGCCTCCCTTGTCA CTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCT ATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATAGCC TCCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCTATGGCCTCCCAT GTCACTATGGCCTCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0060 a0001c0001t0020g0060	1	259	0.0039	366	c.424 others(383): Show c.424-1402_424-1401insTGGGAGGCCATAGTGACATGGGAGGCCA TAGAAAGTGACATGGGAGGCTATAGAAAGTGACATGGGAGGCTATAGAAA GTGACATGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACA TGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACAAGGGAG GCCATAGAAAGTGACATGGGAGGCCATAGTGACATGGGAGGCCATAGAAA GTGACATGGGAGGCTATAGAAAGTGACATGGGAGGCTATAGAAAGTGACA TGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGGGAG GCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACA	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM185A_chrX_149591556_149636792	149605471	T T	TTGTCACT others(359): Show TTGTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCA CTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCT ATAGCCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCTATGGCC TCCCATGTCACTATGGCCTCCCATGTCACTTTCTATGGCCTCCCTTGTCA CTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCT ATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCC TCCCATGTCACTATAGCCTCCCATGTCACTTTCTATGGCCTCCCTTGTCA CTTTCTATGGCCTCCCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0052 a0001c0001t0013g0052	1	259	0.0039	366	c.424 others(383): Show c.424-1402_424-1401insTGGGAGGCCATAGAAAGTGACAAGGGAG GCCATAGAAAGTGACATGGGAGGCTATAGTGACATGGGAGGCCATAGAAA GTGACATGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACA TGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACAAGGGAG GCCATAGAAAGTGACATGGGAGGCCATAGTGACATGGGAGGCCATAGAAA GTGACATGGGAGGCTATAGAAAGTGACATGGGAGGCTATAGAAAGTGACA TGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGGGAG GCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACA	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGTTAG others(359): Show GGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGG CCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGAT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGG AGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	466	0.0022	366	c.50 others(377): Show c.5048_*5049insGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCT CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGA CCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGT CTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507386	A A	ACACGTGT others(359): Show ACACGTGTATACGTGTATACGTGTATACACGTGTATACACGTGTATACGT GTATACGTGTATACACGTGTATACACGTGTATACGTGTATACGTGTGTAT ACACGTGTATACGTGTATACGTGTGTATACACGTGTATACGTGTATACGT GTGTATACATGTATACGTGTATACGTGTGTATACATGTATACGTGTATAC GTGTGTATACATGTATACGTGTATACGTGTGTATACATGTGTATACGTGT ATACGTGTGTATACATGTGTATACGTGTATACGTGTGTATACATGTGTAT ATGTGTATACGTGTGTATACATGTATACGTGTATACGTGTGTATACATGT ATATGTGTATACGTGTG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	388	0.0026	366	c.-23 others(383): Show c.-23+2661_-23+2662insCACACGTATACACATATACATGTATACA CACGTATACACGTATACATGTATACACACGTATACACATATACACATGTA TACACACGTATACACGTATACACATGTATACACACGTATACACGTATACA CATGTATACACACGTATACACGTATACATGTATACACACGTATACACGTA TACATGTATACACACGTATACACGTATACATGTATACACACGTATACACG TATACACGTGTATACACACGTATACACGTATACACGTGTATACACACGTA TACACGTATACACGTGTATACACGTGTATACACGTATACACGTATACACG TGTATACACGTGTATACACGTATACACGTATACACGTG	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507402	C C	CATACGTA others(359): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATAATGTAT ATATACATGTATTATACATACGTAAATGTATAATGTATATATACATTATA CATACGTAAATGTATAATGTATAATGTATATATACATTATACATACGTAA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGT AAATGTATATATATACATTATACATACGTAAATGTATATATATACATTAT ACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	388	0.0026	366	c.-23 others(383): Show c.-23+2645_-23+2646insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATATACATTTACGTATGTATA ATGTATATATACATTATACATTTACGTATGTATAATGTATATATACATTA TACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTA TAATGTATATATACATTATACATTATACATTTACGTATGTATAATGTATA TATACATTATACATTTACGTATGTATAATACATGTATATATACATTATAC ATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATG TATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(359): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTATGTATGTGTATATATGTATACATGTATATATGTATAC ATACACGCGCGTGTATATATGTATACATACACGCGCGTGTATATATGTAT ACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	388	0.0026	366	c.-23 others(383): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATACATATA TACATGTATACATATATACACATACATACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATATACATGTGTACACATG TAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(359): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTATGTATGTGTAT ATATGTATACATGTATATATGTATACATACACGCGCGTGTATATATGTAT ACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02293.hp1 NA19090.hp1 HG02080.hp2 HG02293.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0002 a0001c0001t0045	a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0045g0107 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0045g0107	3	388	0.0077	366	c.-23 others(383): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACATGTATACATATATACACATACA TACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATATACATGTGTACACATG TAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(359): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATAC ATGTGTACACATGTATGTATGTGTATATATGTATACATGTATATATGTAT ACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0135 a0003c0006t0001g0135	1	388	0.0026	366	c.-23 others(383): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CATGTATACATATATACACATACATACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATATACATGTGTACACATG TAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(359): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATAC ATGTGTACACATGTGTATACGTATACATGTGTACACATGTATGTATGTGT ATATATGTATACATGTA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	388	0.0026	366	c.-23 others(383): Show c.-23+2480_-23+2481insTACATGTATACATATATACACATACATA CATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATATACATGTGTACACATG TAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(359): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTATGTATGTGTATATATGTATACATGTATATATGTATAC ATACACGCGCGTGTATATATGTATACATACACGCGCGTGTATATATGTAT ACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0094 a0001c0001t0052g0094	1	388	0.0026	366	c.-23 others(383): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATACATATA TACATGTATACATATATACACATACATACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATG TAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(359): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTATGTATGTGTAT ATATGTATACATGTATATATGTATACATACACGCGCGTGTATATATGTAT ACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18906.hp1 NA18978.hp1 others(2): Show HG02572.hp2 NA18906.hp1 NA18978.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0041 a0001c0001t0001 a0001c0001t0032 a0001c0001t0041	a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0032g0102 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0032g0102 a0001c0001t0041g0103	5	388	0.0129	366	c.-23 others(383): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACATGTATACATATATACACATACA TACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATG TAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(359): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATAC ATGTGTACACATGTATGTATGTGTATATATGTATACATGTATATATGTAT ACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	388	0.0026	366	c.-23 others(383): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CATGTATACATATATACACATACATACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATG TAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(359): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATAC ATGTGTACACATGTGTATACGTATACATGTGTACACATGTATGTATGTGT ATATATGTATACATGTA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18962.hp1 HG02976.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0172 a0001c0001t0001g0173	2	388	0.0052	366	c.-23 others(383): Show c.-23+2480_-23+2481insTACATGTATACATATATACACATACATA CATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATG TAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTGTATAC others(359): Show GTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTATGTATGTGTATATATGTATACATGTATATATGTATAC ATACACGCGCGTGTATATATGTATACATACACGCGCGTGTATATATGTAT ACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	388	0.0026	366	c.-23 others(383): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATACATATA TACATGTATACATATATACACATACATACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATG TATACGTATACACATGTGTACACATGTATACGTATACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204407	C C	CATTATGA others(359): Show CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATGATACTATATCATCA TATAACATTATGATATGATACTATATCATCATATAACATTATGATATACT ATATCATCATATAACATTATGATATACTATATCATCATATAACATTATGA TATGATACTATATCATCATATAACATTATGATATGATACTATATCATCAT ATAACATTATGATATGATACTATATCATCATATAACATTATGATATGATA CTATATCATAATATAAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	174	0.0058	366	c.41- others(383): Show c.41-49090_41-49089insTATGATATGATACTATATCATCATATAA CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATGATACTATATCATCA TATAACATTATGATATACTATATCATCATATAACATTATGATATACTATA TCATCATATAACATTATGATATGATACTATATCATCATATAACATTATGA TATGATACTATATCATCATATAACATTATGATATGATACTATATCATCAT ATAACATTATGATATGATACTATATCATAATATAATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(359): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTT ATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCC TTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTC CCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	334	0.0030	366	c.657 others(381): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCC TTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTC TCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
UCKL1_chr20_63934829_63961416	63942260	G G	GAATGGGG others(359): Show GAATGGGGTGTGGCAGGGCAGAAGAGAGGCGTGACAGCGGCAGGGAAAGG GGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGAAAGGGGCGGGGCCGGAAATGGGGTGTGGCAGGGCAGAAGAGAG GCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGAAATGGGGTGTGGCAGG GCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGGAATGG GGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCGGG GCCGGGAATAGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGG AAAGAGGCGGGGCCGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	356	0.0028	366	c.924 others(383): Show c.924-1053_924-1052insTCCGGCCCCGCCTCTTTCCCTGCCGCTG TCACGCCTCTTTTCTGCCCTGCCACACCCTATTCCCGGCCCCGCCCCTTT CCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGC CCCGCCCCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACC CCATTTCCGGCCCCGCCCCTTTCCCTGCCGCTGTCACGCCTCTCTTCTGC CCTGCCACACCCCATTTCCGGCCCCGCCCCTTTCCCTGCCGCTGTCACGC CTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCTGC CGCTGTCACGCCTCTCTTCTGCCCTGCCACACCCCATT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
UCKL1_chr20_63934829_63961416	63942260	G G	GAATGGGG others(359): Show GAATGGGGTGTGGCAGGGCAGAAGAGAGGCGTGACAGCGGCAGGGAAAGG GGCGGGGCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCG GCAGGGAAAGGGGCGGGGCCGGAAATGGGGTGTGGCAGGGCAGAAGAGAG GCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGAAATGGGGTGTGGCAGG GCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCGGGGCCGGGAATGG GGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGGAAAGGGGCGGG GCCGGGAATGGGGTGTGGCAGGGCAGAAAAGAGGCGTGACAGCGGCAGGG AAAGAGGCGGGGCCGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02717.hp2 others(1): Show HG02486.hp1 HG02572.hp1 HG02717.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0162 a0001c0001t0001g0229 a0001c0001t0001g0295 others(1): Show a0001c0001t0001g0162 a0001c0001t0001g0229 a0001c0001t0001g0295 a0001c0002t0001g0230	4	356	0.0112	366	c.924 others(383): Show c.924-1053_924-1052insTCCGGCCCCGCCTCTTTCCCTGCCGCTG TCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCTTT CCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACCCCATTCCCGGC CCCGCCCCTTTCCCTGCCGCTGTCACGCCTCTTTTCTGCCCTGCCACACC CCATTTCCGGCCCCGCCCCTTTCCCTGCCGCTGTCACGCCTCTCTTCTGC CCTGCCACACCCCATTTCCGGCCCCGCCCCTTTCCCTGCCGCTGTCACGC CTCTTTTCTGCCCTGCCACACCCCATTCCCGGCCCCGCCCCTTTCCCTGC CGCTGTCACGCCTCTCTTCTGCCCTGCCACACCCCATT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	8/14			chr20	TogoVar
ULK1_chr12_131889622_131928150	131917105	G G	GGAGGCTG others(359): Show GGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTTGGGGGGAG CTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGAC GGGGCTCGGAGGCTGTGGGACGGGGGTTGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG CTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACG GGGGTCGGGTGGGGCTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0217 a0002c0008t0004g0217	1	344	0.0029	366	c.218 others(381): Show c.2182+55_2182+56insCGGGGGTCGGAGGCTGTGGGACGGGGGTTG GGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGACGGGGCTCGGAGGCTGTGGGACGGGGGTTGGGGGGAGCTCGGAG GCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTCGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX2_chrX_8164944_8176267	8169335	T T	TCCTCCCT others(359): Show TCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	366	c.69 others(375): Show c.696_*697insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		608		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169793	C C	CCCTCCCT others(359): Show CCCTCCCTCCCTCCCACACACCACCTCTTCTCCCTCCCTCCCTCCCACAC ACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACC TCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	115	0.0087	366	c.23 others(375): Show c.238_*239insAAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAG AGGTGGTGTGTGGGGAGGGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGAGGGAGGGAGGG AGAAGAGGTGGTGTGTGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		150		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169866	T T	TCCCTCCC others(359): Show TCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCT CTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCTCACACACCACCTCTTCCCCCCTCCCTCCCTCCCC ACACACCACCTCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	115	0.0087	366	c.16 others(375): Show c.165_*166insGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGG AAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		77		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237081	C C	CGAGAGAG others(359): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGA GGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	328	0.0031	366	c.375 others(381): Show c.375-106_375-105insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAG AGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAG AGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VGLL4_chr3_11551069_11648915	11604262	A A	ATGAATTC others(359): Show ATGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATC CTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCC CCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCC CACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTT CCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGT GAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCCACCCCCAATCC TCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCC CACCCCCAATCCTACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	388	0.0026	366	c.83- others(381): Show c.83-2241_83-2240insGTGTAGGATTGGGGGTGGGGGGTGGGCGTG GGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGG GGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGA GGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCA CAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGA AGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGG GGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGG GGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
WWOX_chr16_78094654_79217667	78723554	C C	CTTCTTTT others(359): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0008 a0005c0003t0008	a0005c0003t0008g0100 a0005c0003t0008g0100	1	142	0.0070	366	c.105 others(389): Show c.1056+290879_1056+290880insCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
YBEY_chr21_46281342_46302751	46292918	A A	ACAGCCAC others(359): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACA GCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCA CACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	404	0.0025	366	c.339 others(383): Show c.339+1471_339+1472insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTG GGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZC3HAV1_chr7_139038515_139114720	139101478	G G	GCCTTTGC others(359): Show GCCTTTGCCCGGCCGCGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCTGCACTGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCG TCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAAT GAGAAGCCCCTCCGCCCGGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTC TCCGACCGGCAGCCACTCCGTCAGGGAGGGAGGTGGGGGTCAGCCCGCGC CCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGAGTCAGTCCCTGCCCGG CCGCCGCCCTGTCCGGAGGGTGGGGGGGCGCCTCTGCCCAGCCGCCCCTT CTGGGAAGTGAGGAGCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0056 a0001c0008t0056	a0001c0008t0056g0250 a0001c0008t0056g0250	1	314	0.0032	366	c.308 others(383): Show c.308+7545_308+7546insGGCTCCTCACTTCCCAGAAGGGGCGGCT GGGCAGAGGCGCCCCCCCACCCTCCGGACAGGGCGGCGGCCGGGCAGGGA CTGACTCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGCGGGCTGA CCCCCACCTCCCTCCCTGACGGAGTGGCTGCCGGTCGGAGACGCTCCTCA CTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTTCTCATTTCTCAGAC GGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTG CCGGGCGGAGGGGCTCCTCACTTCTCAGACAGTGCAGCCGGGCAGAGACG CTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAAAGG	ZC3HAV1	ENSG00000105939.14	transcript	ENST00000242351.10	protein_coding	1/12			chr7	TogoVar
ZFPM1_chr16_88448280_88542031	88461035	G G	GGACCGAG others(359): Show GGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCAGAAGGT CTGGTGAGGACCAAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGC AGAAGGTCTGGTGAGGACCAAGGGGCGGGAGGCCCTGGTGAGGACCCAGG GGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCC AGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTG ATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCAGGAGG CCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGG GCGGGAGGCCTGGTGAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0151 a0002c0002t0004g0151	1	318	0.0031	366	c.40+ others(381): Show c.40+7371_40+7372insGCGGGAGGCCTGGTGAGGACCGAGGGGCAG AAGGTCTGGTGAGGACCAAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGA GGGGCAGAAGGTCTGGTGAGGACCAAGGGGCGGGAGGCCCTGGTGAGGAC CCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAG GACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACC TGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCA GGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACC GAGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF383_chr19_37213214_37253740	37242104	A A	ATAGATAC others(359): Show ATAGATACTATACTATATATGGTATCTATACTATATATAGTATAGTATCT ATATAGTATCTATACTATATATAGTATAGTATCTATATATAGTATATATA GTTTCTATACTATATAGTATATATAGTACTATAGTATCTAGATACTATAT ATACTATATAAGTATACTTTTATAGTATATATAGATACTACATATAGTAT CTATATCTATATATGTCTAAGATATATCATATCTATATAAGTATACTTAT ATAGTATATATAGATACTATAGTATACTTATATATAGATACTATAGTATA CTTATATAAGTATACTTATATAGATATGTGATATATCTTAGACATATATA GATATAGATACTATATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19057.hp1 NA19070.hp1 HG01884.hp2 NA19057.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0060 a0001c0001t0002 a0001c0001t0006 a0001c0001t0060	a0001c0001t0002g0043 a0001c0001t0006g0043 a0001c0001t0060g0102 a0001c0001t0002g0043 a0001c0001t0006g0043 a0001c0001t0060g0102	3	404	0.0074	366	c.233 others(381): Show c.233-362_233-361insATACTATACTATATATGGTATCTATACTAT ATATAGTATAGTATCTATATAGTATCTATACTATATATAGTATAGTATCT ATATATAGTATATATAGTTTCTATACTATATAGTATATATAGTACTATAG TATCTAGATACTATATATACTATATAAGTATACTTTTATAGTATATATAG ATACTACATATAGTATCTATATCTATATATGTCTAAGATATATCATATCT ATATAAGTATACTTATATAGTATATATAGATACTATAGTATACTTATATA TAGATACTATAGTATACTTATATAAGTATACTTATATAGATATGTGATAT ATCTTAGACATATATAGATATAGATACTATATGTAG	ZNF383	ENSG00000188283.12	transcript	ENST00000684119.1	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(360): Show GGAGGGAGAGGGAGAGGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0024 a0002c0001t0005g0024	1	354	0.0028	367	c.523 others(386): Show c.523-13463_523-13462insAGAGGGAGAGGGAGACGGAGACGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS3_chr4_72275969_72574221	72456150	T T	TTATATAT others(360): Show TTATATATAGTATATATACTGTATATACTTTATATATAGTATATATACTG TATATACTTTATATATAGTATATATACTGTATATACTATATATATAGTAT ATATACTGTATATACTTTATATATAGTATATATACTGTATATACTATATA TATTTTATATATAGTATATACAGTATATATACTATATATAGTATATATAG TATATATACTATATATATTTTATATATAGTATATATATTGTATATACTAT ATATATTTTATATATATTTTATATACTATATATATTTTATATATATTTTA TATATAGTATGTACTATATATATTTTATATATAGTATGTACTATATATAT TTTATATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0088 a0005c0013t0001g0088	1	182	0.0055	367	c.505 others(386): Show c.505-41180_505-41179insGTACATACTATATATAAAATATATAT AGTACATACTATATATAAAATATATATAGTACATACTATATATAAAATAT ATATAAAATATATATAGTATATAAAATATATATAAAATATATATAGTATA TACAATATATATACTATATATAAAATATATATAGTATATATACTATATAT ACTATATATAGTATATATACTGTATATACTATATATAAAATATATATAGT ATATACAGTATATATACTATATATAAAGTATATACAGTATATATACTATA TATATAGTATATACAGTATATATACTATATATAAAGTATATACAGTATAT ATACTATATATAAAGTATATACAGTATATATACTATATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AGRN_chr1_1015120_1061116	1029985	G G	GTGTGTGT others(360): Show GTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCGTGTGTGTGTGCAGCG CATGGTGCTGTGTGAGATCAGCTGTGTGTGTGCAGCGCATGGTGCTGTGA GATCAGCGTGTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCGTGTGTG TGTGTGCAGTGCATGGTGCTGTGTGAGATCAGCATGTGTGTGTGTGCAGT GCATGGTGCTGTGAGATCAGCGTGTGTGTGCAGCGCATGGTGCTGTGTGA GATCAGCGTGTGTGTGTGCAGCGCATGGTGCTGTGAGATCAGCATGTGTG TGTGCAGTGCATGGTGCTGTGAGATCAGCGTGTGTGTGTGCAGTGCATGG TGCTGTGTGAGATCAGCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0003 a0001c0063t0003	a0001c0063t0003g0189 a0001c0063t0003g0189	1	210	0.0048	367	c.464 others(384): Show c.464-5284_464-5283insCAGTGCATGGTGCTGTGAGATCAGCGTG TGTGTGTGCAGCGCATGGTGCTGTGTGAGATCAGCTGTGTGTGTGCAGCG CATGGTGCTGTGAGATCAGCGTGTGTGTGTGCAGTGCATGGTGCTGTGAG ATCAGCGTGTGTGTGTGTGCAGTGCATGGTGCTGTGTGAGATCAGCATGT GTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCGTGTGTGTGCAGCGCA TGGTGCTGTGTGAGATCAGCGTGTGTGTGTGCAGCGCATGGTGCTGTGAG ATCAGCATGTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCGTGTGTGT GTGCAGTGCATGGTGCTGTGTGAGATCAGCATGTGTGTG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARIH2_chr3_48913842_48991382	48951662	T T	TCAAAGAA others(360): Show TCAAAGAACATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGTCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0187	1	202	0.0050	367	c.256 others(384): Show c.256-9937_256-9936insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGTCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAAAGAACATGTT	ARIH2	ENSG00000177479.20	transcript	ENST00000356401.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(360): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCC CCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCC CCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACC CCTACCCCCCACCCCCCACCTCCCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0215 a0001c0016t0004g0215	1	254	0.0039	367	c.39+ others(384): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCA CCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCC CCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCA CCTCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACC CCCCACCCCTACCCCCCACCCCCCACCTCCCCCCCACCCCCCACCTCCCC CCACCCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421145	A A	AGTTTATA others(360): Show AGTTTATATATATATAGTTTATATATATATACTATATATATAGTTTATAT ATATACTATATATAGTATATATATATACTATATATATAGTTTATATATAT ATACTATATATAGTATATATATACTATATATATAGTATATATATATATAT ACTATATATATAGTTTATATATATATACTATATATATAGTTTATATATAT ATAAACTATATATATAGTTTATATATATATACTATATATATAGTTTATAT ATATATATACTATATATATAGTTTATATATATATATACTATATATATAGT TTATATATAGTTTATATATATATATACTATATATATAGTTTATATATATA TATACACTATATATATAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0043	1	304	0.0033	367	c.331 others(386): Show c.3314-1179_3314-1178insCTATATATATAGTGTATATATATATA TAAACTATATATATAGTATATATATATATAAACTATATATAAACTATATA TATAGTATATATATATATAAACTATATATATAGTATATATATATATAAAC TATATATATAGTATATATATATAAACTATATATATAGTTTATATATATAT AAACTATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATATATACTATATATATAGTATATATATACTATATATAGTATATATATAT AAACTATATATATAGTATATATATATACTATATATAGTATATATATAAAC TATATATATAGTATATATATATAAACTATATATATATAAAC	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421145	A A	ATAGTTTA others(360): Show ATAGTTTATATATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATACTATATATAGTATATATATATACTATATATATAGTTTATATAT ATATACTATATATAGTATATATATACTATATATATAGTATATATATATAT ACTATATATATAGTTTATATATATATACTATATATATAGTTTATATATAT ATAAACTATATATATAGTTTATATATATATACTATATATATAGTTTATAT ATATATATACTATATATATAGTTTATATATATATATACTATATATATAGT TTATATATAGTTTATATATATATATACTATATATATAGTTTATATATATA TATACACTATATATATAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0042 a0001c0001t0018g0042	1	304	0.0033	367	c.331 others(386): Show c.3314-1179_3314-1178insCTATATATATAGTGTATATATATATA TAAACTATATATATAGTATATATATATATAAACTATATATAAACTATATA TATAGTATATATATATATAAACTATATATATAGTATATATATATATAAAC TATATATATAGTATATATATATAAACTATATATATAGTTTATATATATAT AAACTATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATATACTATATATATAGTATATATATACTATATATAGTATATATATATAA ACTATATATATAGTATATATATATACTATATATAGTATATATATAAACTA TATATATAGTATATATATATAAACTATATATATATAAACTA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(360): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0307 a0004c0005t0001g0307	1	356	0.0028	367	c.249 others(386): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATATATATATATATATATATATATATATATATATCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
B4GALNT4_chr11_364499_387117	374730	A A	AGGAAGGG others(360): Show AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0004 a0015c0027t0004	a0015c0027t0004g0008 a0015c0027t0004g0008	1	184	0.0054	367	c.784 others(382): Show c.784-642_784-641insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C4orf50_chr4_5954375_6023431	6004440	G G	GTGGTGGT others(360): Show GTGGTGGTGATGGTGATGCTGATGATGGTGATGATGGTGATGGTGATGAT AGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATAT TGATGGTGATGATATTGATGGTGATGATGGTGATGGTGATGATGTGATGG TGATGATGGTGATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTG ATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATG ATAGTGATGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGAT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGGTGA TGATAGTGATGATGGTGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02559.hp1 HG02647.hp1 others(1): Show HG02027.hp1 HG02559.hp1 HG02647.hp1 HG02723.hp2	a0021 a0054 a0065 others(1): Show a0021 a0054 a0065 a0067	a0021c0024 a0054c0065 a0065c0115 others(1): Show a0021c0024 a0054c0065 a0065c0115 a0067c0072	a0021c0024t0001 a0054c0065t0001 a0065c0115t0001 others(1): Show a0021c0024t0001 a0054c0065t0001 a0065c0115t0001 a0067c0072t0001	a0021c0024t0001g0062 a0054c0065t0001g0233 a0065c0115t0001g0154 others(1): Show a0021c0024t0001g0062 a0054c0065t0001g0233 a0065c0115t0001g0154 a0067c0072t0001g0081	4	346	0.0116	367	c.963 others(384): Show c.963+3555_963+3556insTCACCATCATCACTATCATCACCATCAC CATCACCATCACCATCATCACCATCACCATCATCACCATCATCACCATCA TCACTATCATCACCATCACCATCATCACCATCATCACTATCATCACCATC ACATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATC ACCATCACCATCATAACTATCACCATCATCACCATCATCACCATCACATC ATCACCATCACCATCATCACCATCAATATCATCACCATCAATATCATCAC CATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCACCA TCACCATCATCACCATCATCAGCATCACCATCACCACCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C7orf50_chr7_992006_1143247	1128071	G G	GATCTCAG others(360): Show GATCTCAGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCG TCACCCGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCCCACCGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCACCGTCACCCGGG CTGGAGTGCAGTGGCACA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	326	0.0031	367	c.-1- others(380): Show c.-1-686_-1-685insTGTGCCACTGCACTCCAGCCCGGGTGACGGTG GATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACGGTGGGATG AGCTGAGATCGCGCCACTGCACTCCAGCCCGGGTGACGGTGAGATGAGCT GAGATCGCGCCACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGA TCGTGCCACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATCGT GCCACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATGGCGCCA CTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATTGTGCCACTGC ACTCCAGCCCGGGTGACGGTGAGATGAGCTGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNA1C_chr12_2047987_2702950	2539479	G G	GGGGGCCG others(360): Show GGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATGG CATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCT TCATAAAGATGCAGGCAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0004 a0004	a0004c0034 a0004c0039 a0004c0034 a0004c0039	a0004c0034t0009 a0004c0039t0009 a0004c0034t0009 a0004c0039t0009	a0004c0034t0009g0041 a0004c0039t0009g0040 a0004c0034t0009g0041 a0004c0039t0009g0040	2	104	0.0192	367	c.139 others(388): Show c.1391-10462_1391-10461insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAAGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGCAGGCAG GGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCACGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar

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