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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TTLL8_chr22_50013575_50063298	50029276	ACCCCACA others(80): Show ACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02451.hp2 NA18963.hp1 HG01106.hp1 HG02451.hp2 NA18963.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0005 a0004c0004 a0005c0005	a0004c0004t0002 a0005c0005t0002 a0004c0004t0002 a0005c0005t0002	a0004c0004t0002g0038 a0004c0004t0002g0161 a0005c0005t0002g0126 a0004c0004t0002g0038 a0004c0004t0002g0161 a0005c0005t0002g0126	3	224	0.0134	-87	c.225 others(106): Show c.2251+1067_2251+1153delGTCTTTAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029330	CCTCGTAA others(80): Show CCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACACCCTCGT AAAGACCCCATCACACCATCCTGAAGACCCCACACACA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	224	0.0045	-87	c.225 others(106): Show c.2251+1013_2251+1099delTGTGTGTGGGGTCTTCAGGATGGTGT GATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGG GTCTTTACGAG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291947	CTCCGTGT others(80): Show CTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0001 a0011c0026t0001	a0011c0026t0001g0227 a0011c0026t0001g0227	1	284	0.0035	-87	c.121 others(104): Show c.1214+465_1214+551delAGGGACACAGAGGGACATGGGGGACACG GAGGGTGCGTGCTGCCCTCTCCCGTACAGGTAGGGCTCCCCGGGACACGG GGACACGGA		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TYMS_chr18_652653_678578	667376	TGATGGTG others(80): Show TGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0351 a0001c0001t0003g0351	1	482	0.0021	-87	c.455 others(104): Show c.455-1678_455-1592delAGATGGTGATGGTGATGGTGATGGTGAT GGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGAGATGGTGA TGGTGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
UNC5A_chr5_176805559_176885898	176859133	GCCCTTGC others(80): Show GCCCTTGCTAGAGGGCATAGCTGCTACAATGTCCTTGCTAGAGGGCATGG CTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02647.hp1 HG01884.hp1 HG02145.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0083 a0001c0001t0007g0242 a0001c0001t0007g0247 a0001c0001t0007g0083 a0001c0001t0007g0242 a0001c0001t0007g0247	3	268	0.0112	-87	c.71- others(102): Show c.71-3490_71-3404delCCCTTGCTAGAGGGCATAGCTGCTACAATG TCCTTGCTAGAGGGCATGGCTGCTAGAATGCCCTTGCTAGAGGGCATAGC TGCTAGA		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14						chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859163	GTCCTTGC others(80): Show GTCCTTGCTAGAGGGCATGGCTGCTAGAATGCCCTTGCTAGAGGGCATAG CTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02809.hp2 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0235 a0001c0005t0002g0241 a0001c0005t0002g0235 a0001c0005t0002g0241	2	268	0.0075	-87	c.71- others(102): Show c.71-3460_71-3374delTCCTTGCTAGAGGGCATGGCTGCTAGAATG CCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATAGC TGCTAGA		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14						chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859466	GTCCTTGC others(80): Show GTCCTTGCTAGAGGGCATAGCTGCTAGAATGCCCTTGCTAGAGGGCATAG CTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp1 HG03098.hp2 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0005 a0004c0006t0002g0005	2	268	0.0075	-87	c.71- others(102): Show c.71-3157_71-3071delTCCTTGCTAGAGGGCATAGCTGCTAGAATG CCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATAGC TGCTAGA		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14						chr5	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(80): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00438.hp2 HG00733.hp1 HG01934.hp1 others(9): Show HG00438.hp2 HG00733.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG04115.hp2 NA18951.hp1 NA18961.hp2 NA19000.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0035 a0002c0002 a0002c0035	a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0069 a0002c0035t0002	a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0239 others(9): Show a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0239 a0002c0002t0001g0272 a0002c0002t0002g0100 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0008g0031 a0002c0002t0009g0238 a0002c0002t0069g0191 a0002c0035t0002g0101	12	322	0.0373	-87	c.735 others(97): Show c.735-55_766delGTGGGGGGCGGGGAGCCAAGTCCTCTGTGTCCCCC TGACACCTCCTCATCCCCAGGTCCACGCCCTGCCCCAGTGTGAAGCACGG GG	p.Ser others(5): Show p.Ser246fs	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	6/15	779/5250	735/2202	245/733			chr16	TogoVar
UNKL_chr16_1358205_1419704	1397435	CACCCCCG others(80): Show CACCCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGG TGTCAGGAGGACACAGAGGACTTGGCTCCCCCACCCCG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 NA19043.hp2 HG01884.hp2 HG01891.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0004 a0001c0001t0025	a0001c0001t0004g0306 a0001c0001t0025g0304 a0001c0001t0025g0305 a0001c0001t0004g0306 a0001c0001t0025g0304 a0001c0001t0025g0305	3	322	0.0093	-87	c.735 others(102): Show c.735-227_735-141delCGGGGTGGGGGAGCCAAGTCCTCTGTGTCC TCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCCCCAGCGTGAAGCA CGGGGGT		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1397464	GTGGACCT others(80): Show GTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTCC CCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp1 HG02055.hp2 others(12): Show HG01070.hp2 HG01884.hp1 HG02055.hp2 HG02145.hp2 HG02486.hp2 HG02723.hp1 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG06807.hp1 NA19030.hp1 NA20129.hp2 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0014 a0007c0019	a0001c0001t0010 a0001c0001t0029 a0001c0003t0012 others(8): Show a0001c0001t0010 a0001c0001t0029 a0001c0003t0012 a0001c0003t0013 a0001c0003t0032 a0001c0003t0067 a0001c0009t0024 a0001c0009t0043 a0001c0014t0019 a0001c0014t0053 a0007c0019t0012	a0001c0001t0010g0063 a0001c0001t0029g0061 a0001c0003t0012g0055 others(12): Show a0001c0001t0010g0063 a0001c0001t0029g0061 a0001c0003t0012g0055 a0001c0003t0012g0056 a0001c0003t0012g0062 a0001c0003t0013g0180 a0001c0003t0032g0064 a0001c0003t0032g0065 a0001c0003t0067g0017 a0001c0009t0024g0253 a0001c0009t0024g0254 a0001c0009t0043g0105 a0001c0014t0019g0302 a0001c0014t0053g0016 a0007c0019t0012g0020	15	322	0.0466	-87	c.735 others(102): Show c.735-256_735-170delTGCCCTGCCCCAGCGTGAAGCACGGGGGTC GGGGTGGGGGAGCCAAGTCCTCTGTGTCCTCCTGACACCTCCTCATCCCC AGGTCCA		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1397638	GTGGACCT others(80): Show GTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCC CCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGCA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19012.hp2 NA19082.hp2 NA19002.hp1 NA19012.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0052	3	322	0.0093	-87	c.735 others(102): Show c.735-430_735-344delTGCCCTGCCCCAGCGTGAAGCACGGGGGTC GGGGTGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCC AGGTCCA		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
VWF_chr12_5943877_6129670	6109236	CACAGACA others(80): Show CACAGACACACACACACACGTGTATATATATACATATATATACACACACA TATATAATTACATATATACACACATATACAGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03486.hp2 NA19240.hp2 HG01192.hp1 HG03486.hp2 NA19240.hp2	a0041 a0085 a0117 a0041 a0085 a0117	a0041c0046 a0085c0045 a0117c0047 a0041c0046 a0085c0045 a0117c0047	a0041c0046t0001 a0085c0045t0001 a0117c0047t0001 a0041c0046t0001 a0085c0045t0001 a0117c0047t0001	a0041c0046t0001g0282 a0085c0045t0001g0283 a0117c0047t0001g0284 a0041c0046t0001g0282 a0085c0045t0001g0283 a0117c0047t0001g0284	3	288	0.0104	-87	c.532 others(104): Show c.532+1051_532+1137delATATATACTGTATATGTGTGTATATATG TAATTATATATGTGTGTGTATATATATGTATATATATACACGTGTGTGTG TGTGTCTGT		VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	5/51						chr12	TogoVar
ZMAT4_chr8_40525590_40902826	40601618	GAAAGAAA others(80): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00597.hp2 others(28): Show HG00099.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00738.hp2 HG01081.hp1 HG01192.hp1 HG01243.hp2 HG01496.hp2 HG01993.hp1 HG02040.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG04204.hp1 NA18906.hp1 NA18957.hp1 NA18971.hp2 NA18979.hp1 NA19043.hp1 NA19091.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0002c0002t0003 a0002c0002t0005 a0002c0002t0013	a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0029 others(28): Show a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0112 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0002g0078 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0126 a0001c0001t0002g0152 a0001c0001t0003g0129 a0001c0001t0003g0167 a0001c0001t0010g0165 a0001c0001t0011g0123 a0001c0003t0002g0097 a0001c0003t0003g0007 a0001c0003t0004g0092 a0001c0003t0004g0095 a0002c0002t0003g0186 a0002c0002t0005g0011 a0002c0002t0013g0076	31	228	0.1360	-87	c.578 others(106): Show c.578-20444_578-20358delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC TTTCTTTCTTT		ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6						chr8	TogoVar
ZNF440_chr19_11809273_11840216	11811897	AAAGAAAG others(80): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGGGAG AGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA19030.hp1 HG02559.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0203 a0002c0002t0002g0005 a0002c0002t0002g0203	2	376	0.0053	-87	c.-25 others(98): Show c.-2550_-2464delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGGGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG		ZNF440	ENSG00000171295.13	transcript	ENST00000304060.10	protein_coding					2375		chr19	TogoVar
ZNF491_chr19_11793523_11813503	11811897	AAAGAAAG others(80): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGGGAG AGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA19030.hp1 HG02559.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0002 a0001c0001t0002g0016	2	390	0.0051	-87	c.46 others(98): Show c.4631_*4717delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGGGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG		ZNF491	ENSG00000177599.13	transcript	ENST00000323169.10	protein_coding					3395		chr19	TogoVar
ZNF713_chr7_55882456_55947225	55887716	CGGAGGCG others(80): Show CGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGG GGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGG	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18981.hp2 NA18971.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0069 a0001c0001t0003g0070	2	410	0.0049	-87	c.-58 others(103): Show c.-583+39_-583+125delAGGCGGGGGGCGGAGGCGGGGGGCGGAGG CGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGA GGCGGGGG		ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
ZSCAN4_chr19_57663935_57684152	57670275	AGACATGG others(80): Show AGACATGGAGCTGGGGCTGGATGAAGATTCCATCAGTAATTCAATCAACA GACAAGTGTTATCCAATCACGTCTTTAAATCAATCACT	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	2	426	0.0047	-87	c.-30 others(96): Show c.-308_-222delCATGGAGCTGGGGCTGGATGAAGATTCCATCAGTAA TTCAATCAACAGACAAGTGTTATCCAATCACGTCTTTAAATCAATCACTG A		ZSCAN4	ENSG00000180532.12	transcript	ENST00000318203.9	protein_coding	2/5				5695	INFO_REALIGN_3_PRIME	chr19	TogoVar
AATK_chr17_81112295_81171221	81140708	GGTGAGAC others(79): Show GGTGAGACCGTGGGGCTGTGAGCCGTGGGGCCGGGAGACCGTGGGGCCGT GAGCCGTGGGGCTGTGGGGCGGTGAGACCGTGGGGCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG01891.hp2 HG02145.hp2	a0007 a0021 a0007 a0021	a0007c0008 a0021c0052 a0007c0008 a0021c0052	a0007c0008t0001 a0021c0052t0006 a0007c0008t0001 a0021c0052t0006	a0007c0008t0001g0229 a0021c0052t0006g0228 a0007c0008t0001g0229 a0021c0052t0006g0228	2	368	0.0054	-86	c.56- others(101): Show c.56-6293_56-6208delGGCCCCACGGTCTCACCGCCCCACAGCCCC ACGGCTCACGGCCCCACGGTCTCCCGGCCCCACGGCTCACAGCCCCACGG TCTCAC		AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13						chr17	TogoVar
ABCC10_chr6_43422541_43455427	43448332	TTACCTCC others(79): Show TTACCTCCAGGTCAACCTAGTATCATTTTCTCTGAGTACGGTGACATGGA AAAGGTAGGGAAGCTGTATCCTAAAGCCCTAGGCCTG	T T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0004 a0013c0022t0004	a0013c0022t0004g0092 a0013c0022t0004g0092	1	342	0.0029	-86	c.395 others(103): Show c.3959+396_3960-463delTACCTCCAGGTCAACCTAGTATCATTTT CTCTGAGTACGGTGACATGGAAAAGGTAGGGAAGCTGTATCCTAAAGCCC TAGGCCTG		ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	18/21						chr6	TogoVar
ABLIM2_chr4_7960327_8163813	8131623	TGCATCCC others(79): Show TGCATCCCTGAGCACAGCAGCCCGCATCCCCAGCACAGCATCCCGCATCC CTGAGCACAGCAGCCCGCATCCCCAGCACAGCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG02486.hp1 others(1): Show HG00099.hp2 HG01106.hp1 HG02486.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0109 a0001c0001t0002g0110 a0001c0001t0002g0310 others(1): Show a0001c0001t0001g0109 a0001c0001t0002g0110 a0001c0001t0002g0310 a0001c0002t0002g0115	4	322	0.0124	-86	c.11- others(103): Show c.11-25072_11-24987delGGGCTGCTGTGCTGGGGATGCGGGCTGC TGTGCTCAGGGATGCGGGATGCTGTGCTGGGGATGCGGGCTGCTGTGCTC AGGGATGC		ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20						chr4	TogoVar
ABR_chr17_998519_1184981	1065051	ACTGTTGT others(79): Show ACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTG TTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0109 a0001c0002t0011g0109	1	337	0.0030	-86	c.118 others(105): Show c.1182+1940_1182+2025delCGTCTAGAGGAACATGCATAGCCCTC AGTTCACGTAACAGCAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCAC GTAACAACAG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22						chr17	TogoVar
ABR_chr17_998519_1184981	1118551	TCGCTGAG others(79): Show TCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTTCC CAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01074.hp2 others(1): Show HG00639.hp1 HG00741.hp1 HG01074.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0006 a0001c0001 a0001c0005 a0003c0006	a0001c0001t0005 a0001c0005t0048 a0003c0006t0001 a0001c0001t0005 a0001c0005t0048 a0003c0006t0001	a0001c0001t0005g0315 a0001c0005t0048g0198 a0003c0006t0001g0186 others(1): Show a0001c0001t0005g0315 a0001c0005t0048g0198 a0003c0006t0001g0186 a0003c0006t0001g0197	4	337	0.0119	-86	c.246 others(103): Show c.246+6546_246+6631delTAACGCTGGGGAGGACTCAGGCTCAGGG ATAACGCTGGGAAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAG GCTCAGCG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22						chr17	TogoVar
ACSL5_chr10_112369116_112433376	112376973	GTAAGCAC others(79): Show GTAAGCACTGGAAAGGGACTCTACCACTGGAGACCCTCAGGGAATAAGCA CTGGAAAGGGACTCTACCACCGGAGACCCTCAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG03471.hp2 others(2): Show HG02976.hp1 HG03098.hp2 HG03471.hp2 HG03579.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0002g0180	5	364	0.0137	-86	c.-30 others(103): Show c.-30+2731_-30+2816delTGGAGACCCTCAGGGAATAAGCACTGGA AAGGGACTCTACCACCGGAGACCCTCAGGGAATAAGCACTGGAAAGGGAC TCTACCAC		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179313546	ACACATCG others(79): Show ACACATCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGG GGACGCACAAGCATTCACACTCATGCACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0018 a0018	a0018c0072 a0018c0072	a0018c0072t0005 a0018c0072t0005	a0018c0072t0005g0044 a0018c0072t0005g0044	1	276	0.0036	-86	c.534 others(105): Show c.534+30135_534+30220delAGTGTGTGTGTGCATGAGTGTGAATG CTTGTGCGTCCCCTCTGCTGACACCCCTGCTCTGGCCAGGCCCTCCTCTG TCTCGATGTG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179313660	GGAGCAGG others(79): Show GGAGCAGGGGTGTCAGCAGAGAGGACGCACACGCATTCACACTCGTGCAC ACACACACTCACACCGAGACAGAGGAGGGCCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19074.hp1 HG00140.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0002c0006 a0001c0018 a0002c0006	a0001c0018t0002 a0002c0006t0004 a0001c0018t0002 a0002c0006t0004	a0001c0018t0002g0178 a0002c0006t0004g0275 a0001c0018t0002g0178 a0002c0006t0004g0275	2	276	0.0073	-86	c.534 others(105): Show c.534+30021_534+30106delTGGCCAGGCCCTCCTCTGTCTCGGTG TGAGTGTGTGTGTGCACGAGTGTGAATGCGTGTGCGTCCTCTCTGCTGAC ACCCCTGCTC		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179313704	GTGCACAC others(79): Show GTGCACACACACACTCACACCGAGACAGAGGAGGGCCTGGCCAGAGCAGG GGTGTCAGCAGAGGGGACGCACAAGCATTCACACTCA	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0004 a0016c0027t0004	a0016c0027t0004g0098 a0016c0027t0004g0098	1	276	0.0036	-86	c.534 others(105): Show c.534+29977_534+30062delTGAGTGTGAATGCTTGTGCGTCCCCT CTGCTGACACCCCTGCTCTGGCCAGGCCCTCCTCTGTCTCGGTGTGAGTG TGTGTGTGCA		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179313809	CCGAGACA others(79): Show CCGAGACAGAGGAGGGCCTGGCCGGAGCAGGGGTGTCAGCAGAGGGGACG CACACGCATTCACACTCGTGCACACACACACTCACAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02622.hp2 others(3): Show HG01891.hp1 HG01891.hp2 HG02622.hp2 HG03225.hp1 HG03453.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0014 a0001c0066 a0001c0075 others(3): Show a0001c0014 a0001c0066 a0001c0075 a0002c0039 a0003c0002 a0003c0029	a0001c0014t0002 a0001c0066t0002 a0001c0075t0004 others(3): Show a0001c0014t0002 a0001c0066t0002 a0001c0075t0004 a0002c0039t0007 a0003c0002t0002 a0003c0029t0014	a0001c0014t0002g0131 a0001c0066t0002g0118 a0001c0075t0004g0062 others(3): Show a0001c0014t0002g0131 a0001c0066t0002g0118 a0001c0075t0004g0062 a0002c0039t0007g0208 a0003c0002t0002g0143 a0003c0029t0014g0020	6	276	0.0217	-86	c.534 others(105): Show c.534+29872_534+29957delATGTGAGTGTGTGTGTGCACGAGTGT GAATGCGTGTGCGTCCCCTCTGCTGACACCCCTGCTCCGGCCAGGCCCTC CTCTGTCTCG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADGRA1_chr10_133082924_133136675	133113058	TGTCAGTT others(79): Show TGTCAGTTATTTGGGGTCTGCGGGCCGTGTCGGTTCGGTTATTTGGGGTC TGTAAGCTGTGTCGGTTATTTGAGGTCTGTGGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00639.hp2 others(24): Show HG00323.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG01167.hp1 HG01169.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01993.hp1 HG02055.hp1 HG02129.hp2 HG02602.hp1 HG02698.hp2 HG03017.hp2 HG03098.hp2 HG03486.hp2 HG03491.hp1 HG04204.hp1 NA18946.hp1 NA18946.hp2 NA19005.hp1 NA19009.hp1 NA19066.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0004c0040 a0004c0041 a0012c0035	a0001c0001t0002 a0001c0001t0017 a0001c0001t0024 others(10): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0024 a0001c0002t0001 a0001c0002t0019 a0001c0003t0009 a0001c0004t0004 a0001c0004t0015 a0001c0004t0032 a0002c0005t0025 a0004c0040t0012 a0004c0041t0014 a0012c0035t0001	a0001c0001t0002g0076 a0001c0001t0002g0097 a0001c0001t0002g0101 others(22): Show a0001c0001t0002g0076 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0169 a0001c0001t0002g0208 a0001c0001t0017g0130 a0001c0001t0017g0201 a0001c0001t0024g0075 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0019g0057 a0001c0002t0019g0058 a0001c0002t0019g0060 a0001c0003t0009g0344 a0001c0004t0004g0007 a0001c0004t0004g0119 a0001c0004t0004g0148 a0001c0004t0015g0142 a0001c0004t0032g0009 a0002c0005t0025g0253 a0004c0040t0012g0046 a0004c0041t0014g0062 a0012c0035t0001g0056	27	368	0.0734	-86	c.401 others(105): Show c.401+10220_401+10305delAGTTATTTGGGGTCTGCGGGCCGTGT CGGTTCGGTTATTTGGGGTCTGTAAGCTGTGTCGGTTATTTGAGGTCTGT GGGCCACGTC		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADM2_chr22_50476543_50491437	50488407	TGGTGCTT others(79): Show TGGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCCA CGGCCCCCCGACGGCTGCCTGTCCCTCTGGTGGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03195.hp1 HG02145.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0001 a0001c0001t0020g0001 a0001c0001t0004g0001 a0001c0001t0020g0001	2	446	0.0045	-86	c.55 others(97): Show c.5505_*5590delGGTGCTTGGCCTGGGATACTACCTGGGGGACAGG CCAGTGCACCCCCCACGGCCCCCCGACGGCTGCCTGTCCCTCTGGTGGCC TC		ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding					1971		chr22	TogoVar
AGBL1_chr15_86074871_86921156	86827300	TATGTATA others(79): Show TATGTATATATATATATACACACACATATATATATATATGTGTATATATA TATATATATATATGTGTGTGTATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02257.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0053 a0001c0001 a0001c0053	a0001c0001t0008 a0001c0053t0008 a0001c0001t0008 a0001c0053t0008	a0001c0001t0008g0102 a0001c0053t0008g0012 a0001c0001t0008g0102 a0001c0053t0008g0012	2	132	0.0152	-86	c.315 others(107): Show c.3159-79784_3159-79699delGTATATATATATATACACACACAT ATATATATATATGTGTATATATATATATATATATATGTGTGTGTATATAT ATATATACACAT		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
AGMO_chr7_15195317_15567015	15322507	TATATATA others(79): Show TATATATATAAATATATATAAATATATAAATATATATATAAATATATATA AATATATAAATATATATAAATATATATAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	236	0.0042	-86	c.126 others(107): Show c.1263+42921_1263+43006delTTATATATTTATATATATTTATAT ATATTTATATATTTATATATATTTATATATATATTTATATATTTATATAT ATTTATATATAT		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGMO_chr7_15195317_15567015	15322641	AATATATA others(79): Show AATATATAAATATATATATAAATATATATAAATATATGTATATATAAATA TATGAATATGTATAAATATATATAAATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG03486.hp2 HG02717.hp1 HG03225.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0004 a0002c0002t0001 a0001c0005t0004 a0002c0002t0001	a0001c0005t0004g0002 a0002c0002t0001g0060 a0002c0002t0001g0061 a0001c0005t0004g0002 a0002c0002t0001g0060 a0002c0002t0001g0061	3	236	0.0127	-86	c.126 others(107): Show c.1263+42787_1263+42872delATATTTATATATTTATATATATTT ATACATATTCATATATTTATATATACATATATTTATATATATTTATATAT ATATTTATATAT		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGRN_chr1_1015120_1061116	1041026	CGGAGCGG others(79): Show CGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGA GCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0012 a0001c0060t0012	a0001c0060t0012g0162 a0001c0060t0012g0162	1	210	0.0048	-86	c.728 others(100): Show c.728-120_728-35delCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCT GGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGG CGGGG		AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	4/35					INFO_REALIGN_3_PRIME	chr1	TogoVar
AHRR_chr5_316714_443285	344395	TGGGGAGG others(79): Show TGGGGAGGGCTGCGGGGGTGTGTGCGGTATGTGTGAGGCTGTGGGGGGCT GTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0024 a0004c0003t0024	a0004c0003t0024g0029 a0004c0003t0024g0029	1	268	0.0037	-86	c.62+ others(99): Show c.62+436_62+521delAGGGCTGCGGGGGTGTGTGCGGTATGTGTGAG GCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGC GGGG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
ALG6_chr1_63362627_63443553	63400221	ACGTATAT others(79): Show ACGTATATATATATATATATATACGTATATATATGTATATATATATACGT ATATATATATACGTATATATATATACGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	388	0.0026	-86	c.168 others(103): Show c.168-2032_168-1947delCGTATATATATATATATATATACGTATA TATATGTATATATATATACGTATATATATATACGTATATATATATACGTA TATATATG		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14						chr1	TogoVar
ALOX5_chr10_45369216_45451117	45443652	ATCCGGGC others(79): Show ATCCGGGCACGGGGTGGGCGCCGGGCCCTGGGGTCCTCAGGGACTGGGCC TCAGCCCGCCGGTGGTTCCACCCTAGGCTTCCCCAAG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18960.hp1 NA18960.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0226 a0007c0019t0001g0226	1	345	0.0029	-86	c.157 others(98): Show c.1574-73_1586delCGGGCACGGGGTGGGCGCCGGGCCCTGGGGTCC TCAGGGACTGGGCCTCAGCCCGCCGGTGGTTCCACCCTAGGCTTCCCCAA GTC	p.Phe others(5): Show p.Phe526fs	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	12/14		1574/2025	525/674		INFO_REALIGN_3_PRIME	chr10	TogoVar
AMTN_chr4_70513569_70537743	70516318	ATATATAC others(79): Show ATATATACGTATATATATATATACGTATATATATACATATATATGTATAT ATATACATGTATATATATACGTATATATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	458	0.0022	-86	c.-23 others(97): Show c.-2351_-2266delTATATACGTATATATATATATACGTATATATATA CATATATATGTATATATATACATGTATATATATACGTATATATATATATA CG		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding					2250		chr4	TogoVar
ANKLE2_chr12_132720503_132766832	132759118	CGCAGAGT others(79): Show CGCAGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGA GTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0278 a0003c0003t0001g0278	1	350	0.0029	-86	c.181 others(103): Show c.181+2414_181+2499delTGATCCACTCTGCCACGTGGGTGCCCCG GGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGC CACTCTGC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12						chr12	TogoVar
AP5S1_chr20_3815547_3833838	3831615	TATATATA others(79): Show TATATATATCTATATATATATGTGTGTGTGTGGTGTGTGTGTGTGTGTGT GTATATATATATATATTTTTTTTTTTTTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	412	0.0024	-86	c.73 others(97): Show c.7319_*7404delATATATATCTATATATATATGTGTGTGTGTGGTG TGTGTGTGTGTGTGTGTATATATATATATATTTTTTTTTTTTTTTTTTTT TG		AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding					2778		chr20	TogoVar
ARHGEF10L_chr1_17534698_17702869	17556234	AGCCTGGG others(79): Show AGCCTGGGAGCATAGAGGTGGGCCTGGGAGCATGGCGGCGGGGGGGGGGC CTGGGAGCACAGGGCGGGCCTGGGAGCACGGGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG06807.hp1 others(1): Show HG02896.hp1 HG02897.hp2 HG06807.hp1 NA19240.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0017 a0004c0006 others(1): Show a0001c0001 a0001c0017 a0004c0006 a0007c0010	a0001c0001t0003 a0001c0017t0002 a0004c0006t0002 others(1): Show a0001c0001t0003 a0001c0017t0002 a0004c0006t0002 a0007c0010t0001	a0001c0001t0003g0114 a0001c0017t0002g0113 a0004c0006t0002g0108 others(1): Show a0001c0001t0003g0114 a0001c0017t0002g0113 a0004c0006t0002g0108 a0007c0010t0001g0115	4	168	0.0238	-86	c.-44 others(105): Show c.-44+16297_-44+16382delAGAGGTGGGCCTGGGAGCATGGCGGC GGGGGGGGGGCCTGGGAGCACAGGGCGGGCCTGGGAGCACGGGGGTGGGC CTGGGAGCAT		ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF10_chr8_1818926_1963641	1849733	AGCAAATG others(79): Show AGCAAATGCTGAGGAGGGCGTGGGGCGGCCACGTGGACATAGAGGGCAAA TGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0362 a0001c0003t0003g0362	1	363	0.0028	-86	c.37+ others(101): Show c.37+6316_37+6401delGTGGGGCGGCCACGTGGACATAGAGGGCAA ATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGGGCAAATGCTGAG GAGGGC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850267	TGAGGAGG others(79): Show TGAGGAGGGTGTGGGGCGGCCGCGTGGGCATGGACGGCAAATGCTGAGGA GGGCGTGGGGCAACCGTGTGGACAGACGGCAAATGCC	T T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	363	0.0028	-86	c.37+ others(101): Show c.37+6884_37+6969delCGTGGGGCAACCGTGTGGACAGACGGCAAA TGCCGAGGAGGGTGTGGGGCGGCCGCGTGGGCATGGACGGCAAATGCTGA GGAGGG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888549	GGTGAGGT others(79): Show GGTGAGGTATGGGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGTGT CACTGAGTGTGGTGAGGTTTGTGAGGAAACACAGAGT	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19091.hp2 NA19064.hp1 NA19091.hp2	a0001 a0001	a0001c0114 a0001c0116 a0001c0114 a0001c0116	a0001c0114t0017 a0001c0116t0017 a0001c0114t0017 a0001c0116t0017	a0001c0114t0017g0124 a0001c0116t0017g0122 a0001c0114t0017g0124 a0001c0116t0017g0122	2	363	0.0055	-86	c.118 others(105): Show c.1182+2846_1182+2931delAGGTATGGGGAGACACTGAGTGGGGT GTGAGGGGTCTGTGAGGTGTCACTGAGTGTGGTGAGGTTTGTGAGGAAAC ACAGAGTGTG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112755735	GGTCACGG others(79): Show GGTCACGGAAGCGGCACTCAGAGCGGCTCCCAGAACCATTTCCGGTCACG GAAGCGGCACTCAGAGCGGCTCCCAGAACCATTTCCC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02976.hp1 HG03225.hp2 HG01261.hp1 HG02976.hp1 HG03225.hp2	a0001 a0008 a0001 a0008	a0001c0014 a0008c0023 a0001c0014 a0008c0023	a0001c0014t0003 a0001c0014t0043 a0008c0023t0002 a0001c0014t0003 a0001c0014t0043 a0008c0023t0002	a0001c0014t0003g0178 a0001c0014t0043g0056 a0008c0023t0002g0064 a0001c0014t0003g0178 a0001c0014t0043g0056 a0008c0023t0002g0064	3	254	0.0118	-86	c.40- others(103): Show c.40-29228_40-29143delCGTCACGGAAGCGGCACTCAGAGCGGCT CCCAGAACCATTTCCGGTCACGGAAGCGGCACTCAGAGCGGCTCCCAGAA CCATTTCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112803739	CCCCTCCT others(79): Show CCCCTCCTTCTCTCATTCCCCTCCTTCCCTCCTTCCTCTCCCTCCCCTCC CTGCCTTACTTCCCCTCCCTCCCCTCCTTCCTCTCCT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0136 a0001c0028t0002g0136	1	254	0.0039	-86	c.163 others(103): Show c.163-1217_163-1132delCCCTCCTTCTCTCATTCCCCTCCTTCCC TCCTTCCTCTCCCTCCCCTCCCTGCCTTACTTCCCCTCCCTCCCCTCCTT CCTCTCCT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29						chr13	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(79): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	446	0.0022	-86	c.287 others(101): Show c.287+653_287+738delACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC ACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
B3GALT1_chr2_167288001_167879045	167876011	ATATATAC others(79): Show ATATATACGTATATATATATATACGTATATATATATATATACGTATATAT ATATATGTATATATATATATACGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA20300.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0024 a0001c0001t0011g0050 a0001c0001t0005g0024 a0001c0001t0011g0050	2	118	0.0170	-86	c.59 others(97): Show c.5992_*6077delTATATACGTATATATATATATACGTATATATATA TATATACGTATATATATATATGTATATATATATATACGTATATATATATA TG		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding					1967		chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	83003302	CTCCGCAG others(79): Show CTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCG TGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02486.hp1 HG02630.hp1 others(2): Show HG00621.hp2 HG02486.hp1 HG02630.hp1 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0011 a0001c0001t0039 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0039 a0001c0006t0018	a0001c0001t0002g0133 a0001c0001t0002g0174 a0001c0001t0011g0067 others(2): Show a0001c0001t0002g0133 a0001c0001t0002g0174 a0001c0001t0011g0067 a0001c0001t0039g0260 a0001c0006t0018g0015	5	266	0.0188	-86	c.459 others(103): Show c.459+1727_459+1812delCTGCAGAGAGTGGGAGGGCGAGCTCAGG AATCCCACACGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGG ACTGCGGA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
BACE2_chr21_41163160_41287530	41249305	CTCAGGGG others(79): Show CTCAGGGGACTCAGGACTAGTGAGCCCCACATGTACACTTGGCCTCAGGG GACTCAGAACTAGTGAGCCCCACATGTACACTTGGCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0071 a0001c0001t0011g0071	1	272	0.0037	-86	c.985 others(103): Show c.985-1431_985-1346delCTAGTGAGCCCCACATGTACACTTGGCC TCAGGGGACTCAGAACTAGTGAGCCCCACATGTACACTTGGCTTCAGGGG ACTCAGGA		BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr21	TogoVar
BICD1_chr12_32101847_32388633	32346552	ATATATAT others(79): Show ATATATATATATATATATATATATATATATACGTGTATATATATATATAT ATATATATATACGTGTATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02683.hp2 HG03041.hp1 others(1): Show HG00438.hp1 HG02683.hp2 HG03041.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0031 a0001c0002t0001 a0001c0002t0004 a0001c0002t0031	a0001c0002t0001g0178 a0001c0002t0001g0224 a0001c0002t0004g0002 others(1): Show a0001c0002t0001g0178 a0001c0002t0001g0224 a0001c0002t0004g0002 a0001c0002t0031g0024	4	290	0.0138	-86	c.276 others(105): Show c.2764+7594_2764+7679delTATATATATACGTGTATATATATATA TATATATATATATACGTGTATATATATATATATATACGTGTATATATATA TATATATATA		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr12	TogoVar

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