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
ANAPC1_chr2_111762640_111889193	111780861	GGTTATTG others(68): Show GGTTATTGTTGCAGGTATAGATCTCAGGTCTGCAAGATGAAACAGTTCTA GAGATGGATGGTGGTGATGGTTGTGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01884.hp1 HG02015.hp2 others(34): Show HG00423.hp1 HG01884.hp1 HG02015.hp2 HG02083.hp2 HG02109.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02647.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18956.hp1 NA18959.hp1 NA18972.hp1 NA18984.hp1 NA18987.hp2 NA18991.hp1 NA18995.hp1 NA19004.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp2 NA19063.hp2 NA19074.hp2 NA19081.hp1 NA19084.hp1 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0033 a0001c0005 a0001c0008 a0001c0033	a0001c0005t0006 a0001c0005t0009 a0001c0005t0015 others(2): Show a0001c0005t0006 a0001c0005t0009 a0001c0005t0015 a0001c0008t0008 a0001c0033t0006	a0001c0005t0006g0305 a0001c0005t0006g0306 a0001c0005t0006g0308 others(33): Show a0001c0005t0006g0305 a0001c0005t0006g0306 a0001c0005t0006g0308 a0001c0005t0006g0314 a0001c0005t0006g0315 a0001c0005t0006g0316 a0001c0005t0006g0317 a0001c0005t0006g0318 a0001c0005t0006g0319 a0001c0005t0006g0320 a0001c0005t0006g0321 a0001c0005t0006g0322 a0001c0005t0006g0323 a0001c0005t0006g0324 a0001c0005t0006g0325 a0001c0005t0006g0326 a0001c0005t0006g0327 a0001c0005t0006g0328 a0001c0005t0006g0329 a0001c0005t0006g0331 a0001c0005t0006g0332 a0001c0005t0006g0333 a0001c0005t0006g0334 a0001c0005t0006g0335 a0001c0005t0006g0337 a0001c0005t0009g0116 a0001c0005t0009g0126 a0001c0005t0009g0127 a0001c0005t0009g0128 a0001c0005t0015g0330 a0001c0008t0008g0004 a0001c0008t0008g0145 a0001c0008t0008g0146 a0001c0008t0008g0147 a0001c0008t0008g0148 a0001c0033t0006g0336	37	370	0.1000	-75	c.520 others(92): Show c.5203-551_5203-477delGCACAACCATCACCACCATCCATCTCTA GAACTGTTTCATCTTGCAGACCTGAGATCTATACCTGCAACAATAAC	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	43/47			chr2	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	GTATTCCT others(68): Show GTATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02258.hp1 HG02647.hp1 others(6): Show HG00280.hp1 HG02258.hp1 HG02647.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp2 HG03688.hp1 NA18906.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012	a0001c0001t0002g0124 a0001c0001t0002g0172 a0001c0001t0004g0066 others(6): Show a0001c0001t0002g0124 a0001c0001t0002g0172 a0001c0001t0004g0066 a0001c0001t0004g0152 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0252 a0001c0001t0004g0262 a0001c0001t0012g0288	9	292	0.0308	-75	c.298 others(94): Show c.298-21428_298-21354delTACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANKRD11_chr16_89262630_89495561	89421137	AGTGTGTG others(68): Show AGTGTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGG GGGTGGGGGTGAGACACGAAGGGTCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG03130.hp1 others(2): Show HG02723.hp1 HG02896.hp2 HG03130.hp1 HG03486.hp2 NA20300.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0022 a0002c0002 a0012c0029 others(1): Show a0001c0022 a0002c0002 a0012c0029 a0012c0037	a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0012c0029t0001 a0012c0037t0001	a0001c0022t0001g0263 a0002c0002t0001g0219 a0002c0002t0002g0220 others(2): Show a0001c0022t0001g0263 a0002c0002t0001g0219 a0002c0002t0002g0220 a0012c0029t0001g0136 a0012c0037t0001g0141	5	310	0.0161	-75	c.-14 others(94): Show c.-144-2844_-144-2770delCGACCCTTCGTGTCTCACCCCCACCC CCAGACATGGACGGGTGATGGTCCCATCCCTGACTCCGTCATCACACAC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89421340	TGGGGGTG others(68): Show TGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGG ACCATCACCCGTCCATGTCTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	310	0.0032	-75	c.-14 others(94): Show c.-144-3047_-144-2973delGCCCCCAGACATGGACGGGTGATGGT CCCATCCCTGACTCCGTCATCACACACCGACCCTTCGTGTCTCACCCCC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89421420	GTGAGACA others(68): Show GTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGGACCAT CACCCGTCCATGTCTGGGGGTGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0301 a0002c0009t0001g0301	1	310	0.0032	-75	c.-14 others(94): Show c.-144-3127_-144-3053delGCCCCACCCCCAGACATGGACGGGTG ATGGTCCCATCCCTGACTCCGTCATCACACACCGACCCTTCGTGTCTCA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89421445	ATGACGGA others(68): Show ATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGGGGGTGGGG CTGAGACACGAAGGGTCGGTGTGTGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00609.hp1 others(34): Show HG00423.hp2 HG00544.hp1 HG00609.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02015.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02273.hp2 HG02523.hp1 HG02559.hp1 HG03490.hp2 HG03710.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18975.hp1 NA18990.hp2 NA18993.hp1 NA19000.hp1 NA19010.hp2 NA19080.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0008 a0018 a0020 a0022 a0029	a0001c0001 a0001c0006 a0001c0011 others(10): Show a0001c0001 a0001c0006 a0001c0011 a0002c0002 a0003c0003 a0003c0038 a0004c0004 a0006c0010 a0008c0021 a0018c0045 a0020c0035 a0022c0036 a0029c0026	a0001c0001t0001 a0001c0001t0002 a0001c0006t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0003 a0001c0011t0001 a0002c0002t0002 a0003c0003t0001 a0003c0038t0001 a0004c0004t0001 a0006c0010t0001 a0008c0021t0002 a0018c0045t0001 a0020c0035t0001 a0022c0036t0001 a0029c0026t0001	a0001c0001t0001g0135 a0001c0001t0002g0292 a0001c0006t0003g0001 others(34): Show a0001c0001t0001g0135 a0001c0001t0002g0292 a0001c0006t0003g0001 a0001c0011t0001g0193 a0001c0011t0001g0212 a0001c0011t0001g0232 a0002c0002t0002g0139 a0002c0002t0002g0216 a0003c0003t0001g0140 a0003c0003t0001g0218 a0003c0038t0001g0201 a0004c0004t0001g0152 a0004c0004t0001g0203 a0004c0004t0001g0207 a0004c0004t0001g0208 a0004c0004t0001g0210 a0004c0004t0001g0211 a0004c0004t0001g0213 a0004c0004t0001g0217 a0004c0004t0001g0234 a0004c0004t0001g0251 a0004c0004t0001g0253 a0004c0004t0001g0254 a0004c0004t0001g0256 a0004c0004t0001g0257 a0004c0004t0001g0259 a0004c0004t0001g0261 a0004c0004t0001g0279 a0004c0004t0001g0290 a0004c0004t0001g0291 a0006c0010t0001g0226 a0006c0010t0001g0228 a0008c0021t0002g0194 a0018c0045t0001g0206 a0020c0035t0001g0255 a0022c0036t0001g0209 a0029c0026t0001g0239	37	310	0.1194	-75	c.-14 others(94): Show c.-144-3152_-144-3078delCCACACACCGACCCTTCGTGTCTCAG CCCCACCCCCAGACATGGACGGGTGATGGTCCCATCCCTGACTCCGTCA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89421640	CGGGGGTG others(68): Show CGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGG ACCATCACCCGTCCACGTCTGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02723.hp1 others(7): Show HG02109.hp2 HG02572.hp1 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG03130.hp1 HG03486.hp2 HG03834.hp1 NA20300.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0012 a0024	a0001c0001 a0001c0018 a0001c0022 others(6): Show a0001c0001 a0001c0018 a0001c0022 a0002c0002 a0008c0021 a0008c0059 a0012c0029 a0012c0037 a0024c0049	a0001c0001t0001 a0001c0018t0001 a0001c0022t0001 others(7): Show a0001c0001t0001 a0001c0018t0001 a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0008c0021t0002 a0008c0059t0001 a0012c0029t0001 a0012c0037t0001 a0024c0049t0001	a0001c0001t0001g0108 a0001c0018t0001g0266 a0001c0022t0001g0263 others(7): Show a0001c0001t0001g0108 a0001c0018t0001g0266 a0001c0022t0001g0263 a0002c0002t0001g0219 a0002c0002t0002g0220 a0008c0021t0002g0267 a0008c0059t0001g0264 a0012c0029t0001g0136 a0012c0037t0001g0141 a0024c0049t0001g0265	10	310	0.0323	-75	c.-14 others(94): Show c.-144-3347_-144-3273delACCCCCAGACGTGGACGGGTGATGGT CCCATCCCTGACTCCGTCATCACACACCGACCCTTCGTGTCTCACCCCC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
APOB_chr2_20996429_21049073	21001129	ATTTAATT others(68): Show ATTTAATTATAAATACTTTAATTATAAAATATTTAATTATAAATATTTTA ATTATAAAATATTTAATTATAAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0054 a0002c0016t0001g0054	1	350	0.0029	-75	c.52 others(84): Show c.526_*600delATATTTATAATTAAATATTTTATAATTAAAATATTT ATAATTAAATATTTTATAATTAAAGTATTTATAATTAAA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		299		chr2	TogoVar
ARHGAP45_chr19_1062167_1091628	1063162	GCTCCACC others(68): Show GCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGGCTCCACCAGT GTGGCCCCGCCCCATACTCATGCTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	1	418	0.0024	-75	c.-42 others(86): Show c.-4243_-4169delCTCCACCCACACCATGGCCCCGCCCCATACTCAT GCTGGCTCCACCAGTGTGGCCCCGCCCCATACTCATGCTGT	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding		4004		chr19	TogoVar
ARHGAP8_chr22_44747575_44867784	44813368	TACACACA others(68): Show TACACACATACCCACCTACAGTACATACACCCACATACAGACACCTACAT GTACATACACTTACACCTACATACAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0069 a0001c0007t0001g0069	1	390	0.0026	-75	c.300 others(92): Show c.300-1300_300-1226delCACATACCCACCTACAGTACATACACCC ACATACAGACACCTACATGTACATACACTTACACCTACATACACACA	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44813399	CACATACA others(68): Show CACATACAGACACCTACATGTACATACACTTACACCTACATACACACATA CCCACCTACAGTACATACACCCACAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0356 a0001c0007t0001g0356	1	390	0.0026	-75	c.300 others(92): Show c.300-1269_300-1195delTACAGACACCTACATGTACATACACTTA CACCTACATACACACATACCCACCTACAGTACATACACCCACATACA	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGEF18_chr19_7343937_7477478	7362014	AAGGAGAA others(68): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	298	0.0034	-75	c.-11 others(92): Show c.-110-764_-110-690delGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7362107	GAGAAGGA others(68): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GGAGAAGAAGGAGAAGAAGGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0297 a0001c0013t0001g0297	1	298	0.0034	-75	c.-11 others(92): Show c.-110-671_-110-597delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGAAGAAGGAGAAGAAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ASB14_chr3_57263342_57297685	57286390	ATTATTTA others(68): Show ATTATTTATTTCTACATGTTACATTTTAAAGAACTTTTTGTTACACAAAA TTCTCTAATAATTGGCTTTTCTGCAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01433.hp2 others(2): Show HG00280.hp1 HG01074.hp1 HG01433.hp2 HG02074.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091	5	336	0.0149	-75	c.469 others(92): Show c.469+1436_469+1510delATGCAGAAAAGCCAATTATTAGAGAATT TTGTGTAACAAAAAGTTCTTTAAAATGTAACATGTAGAAATAAATAA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB18_chr2_236188459_236269406	236237334	CGCGGGGG others(68): Show CGCGGGGGCCGGGGCCGGGGCGCGGGGCGGGGGCCGGGGCCGGGGCGCGG GGCGGGGGCCGGGGCCGGGGCGCGGG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02630.hp1 HG02965.hp1 others(4): Show HG01358.hp1 HG02630.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1	a0002 a0004 a0011 a0002 a0004 a0011	a0002c0009 a0004c0006 a0011c0016 a0002c0009 a0004c0006 a0011c0016	a0002c0009t0003 a0004c0006t0009 a0011c0016t0003 a0002c0009t0003 a0004c0006t0009 a0011c0016t0003	a0002c0009t0003g0036 a0002c0009t0003g0091 a0004c0006t0009g0095 others(4): Show a0002c0009t0003g0036 a0002c0009t0003g0091 a0004c0006t0009g0095 a0004c0006t0009g0096 a0004c0006t0009g0097 a0004c0006t0009g0098 a0011c0016t0003g0090	7	250	0.0280	-75	c.596 others(90): Show c.596+280_596+354delCCCGCGCCCCGGCCCCGGCCCCCGCCCCGC GCCCCGGCCCCGGCCCCCGCCCCGCGCCCCGGCCCCGGCCCCCGC	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/5			chr2	TogoVar
ASB5_chr4_176208673_176274222	176218151	AATATATA others(68): Show AATATATACATTTGTATGATATATAAATATATATATTTGTATGATATATA AATATATATATTTGTATGATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp2 NA20300.hp2 HG02723.hp1 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0035 a0001c0002t0007g0064 a0001c0002t0007g0065 a0001c0002t0007g0035 a0001c0002t0007g0064 a0001c0002t0007g0065	3	410	0.0073	-75	c.671 others(92): Show c.671-1217_671-1143delATTTATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACAAATGTATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATP5ME_chr4_667436_679276	668561	CCTACCCC others(68): Show CCTACCCCATGCTAGTACCACTACCCCATGCTATTCCCGCTACCCCATGC TATTCCCCTACCCCATGCTATTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG01358.hp2 others(2): Show HG00642.hp1 HG01261.hp1 HG01358.hp2 HG02622.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	5	394	0.0127	-75	c.38 others(86): Show c.3864_*3938delCGGGAATAGCATGGGGTAGGGGAATAGCATGGGG TAGCGGGAATAGCATGGGGTAGTGGTACTAGCATGGGGTAG	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3874		chr4	TogoVar
ATP5ME_chr4_667436_679276	668622	CCCATGCT others(68): Show CCCATGCTATTCCCGCTACCCCATGCTGCTCCCACTACCCCACGCTATTC CCCTACCCCATGCTATTCCCGCTATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02622.hp1 HG01891.hp2 HG02109.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	3	394	0.0076	-75	c.38 others(86): Show c.3803_*3877delCATAGCGGGAATAGCATGGGGTAGGGGAATAGCG TGGGGTAGTGGGAGCAGCATGGGGTAGCGGGAATAGCATGG	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3813		chr4	TogoVar
ATP6V1G1_chr9_114582769_114603879	114601692	TCACTAGG others(68): Show TCACTAGGGCAGGGGTAAAATGCTGCCAGTCTCTTTGCTAAAACATAGCA AGAGTCACCTTTGCTCCAGTTCCCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(120): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18949.hp1 NA18955.hp2 NA18962.hp1 NA18968.hp1 NA18972.hp1 NA18974.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18994.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0019	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(50): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0197 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0081 a0001c0001t0002g0100 a0001c0001t0009g0006 a0001c0001t0009g0096 a0001c0001t0019g0014	123	420	0.2929	-75	c.39 others(86): Show c.3950_*4024delCACTAGGGCAGGGGTAAAATGCTGCCAGTCTCTT TGCTAAAACATAGCAAGAGTCACCTTTGCTCCAGTTCCCAA	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding		2814		chr9	TogoVar
B3GNTL1_chr17_82937149_83056770	83047811	CTTAGGTC others(68): Show CTTAGGTCTATAATAAATCCTACCAAAGAATAAGAAATTTAGGTCTATAA TAAATCCTTACCAAAGAATAAGAAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00621.hp1 others(35): Show HG00099.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG02056.hp1 HG02165.hp1 HG02273.hp1 HG02559.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp2 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18971.hp2 NA18983.hp1 NA18995.hp1 NA19010.hp2 NA19012.hp2 NA19064.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0005 others(1): Show a0001c0001 a0001c0007 a0002c0005 a0003c0021	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(11): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0007t0004 a0001c0007t0005 a0001c0007t0009 a0002c0005t0007 a0003c0021t0035	a0001c0001t0004g0227 a0001c0001t0004g0237 a0001c0001t0004g0238 others(34): Show a0001c0001t0004g0227 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0004g0253 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0005g0256 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0246 a0001c0001t0014g0248 a0001c0001t0015g0249 a0001c0001t0022g0230 a0001c0001t0022g0239 a0001c0001t0036g0244 a0001c0001t0037g0259 a0001c0001t0039g0260 a0001c0007t0004g0240 a0001c0007t0004g0241 a0001c0007t0005g0229 a0001c0007t0005g0233 a0001c0007t0005g0234 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0007t0005g0252 a0001c0007t0005g0254 a0001c0007t0009g0255 a0002c0005t0007g0005 a0002c0005t0007g0228 a0002c0005t0007g0235 a0002c0005t0007g0236 a0002c0005t0007g0261 a0003c0021t0035g0187	38	266	0.1429	-75	c.232 others(90): Show c.232+585_232+659delATTTCTTATTCTTTGGTAAGGATTTATTAT AGACCTAAATTTCTTATTCTTTGGTAGGATTTATTATAGACCTAA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
BAD_chr11_64264830_64289665	64270899	AGACACAC others(68): Show AGACACACACACACACACACACACACACACACACGCCTGGAGTGGGATCT AGACTACAGATCCCAGCATGCCCTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00639.hp1 others(22): Show HG00423.hp2 HG00609.hp2 HG00639.hp1 HG02040.hp2 HG02155.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18965.hp2 NA18971.hp1 NA18988.hp2 NA18999.hp2 NA19002.hp2 NA19009.hp1 NA19056.hp2 NA19060.hp2 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19086.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 others(19): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0341	25	388	0.0644	-75	c.379 others(90): Show c.379-637_379-563delACAGGGCATGCTGGGATCTGTAGTCTAGAT CCCACTCCAGGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BATF2_chr11_64982945_65001971	64983473	CATTTTAT others(68): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATATTTTATTTTATATTTTATTTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01934.hp1 HG02257.hp2 others(9): Show HG01109.hp1 HG01934.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02717.hp2 HG02818.hp2 HG02970.hp1 HG03098.hp2 HG03540.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0001t0001 a0001c0001t0004 a0001c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0082 a0001c0001t0001g0083 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0004g0013 a0001c0006t0001g0073	12	404	0.0297	-75	c.55 others(86): Show c.5581_*5655delTAAAATAAAATATAAAATAAAATATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4471		chr11	TogoVar
BCL11A_chr2_60452194_60558654	60467374	GATGGTGA others(68): Show GATGGTGATGGTACTGGTGGTGATGGTGATGGTGATGGTACTGGTGATGG TGGTGGTGGTAGTGATGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0050 a0001c0001t0010g0050	1	262	0.0038	-75	c.487 others(92): Show c.487+1283_487+1357delTACCACCACCATCACTACCACCACCACC ATCACCAGTACCATCACCATCACCATCACCACCAGTACCATCACCAT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL9_chr1_147536501_147631216	147541070	TGAGAGAG others(68): Show TGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG GAGAGAGAGAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG02486.hp2 HG03834.hp1 HG01952.hp2 HG02486.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0283 a0001c0001t0012g0204 a0001c0001t0012g0205 a0001c0001t0010g0283 a0001c0001t0012g0204 a0001c0001t0012g0205	3	316	0.0095	-75	c.-10 others(86): Show c.-1081_-1007delGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGA	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		430		chr1	TogoVar
BCL9_chr1_147536501_147631216	147541112	AGAGAGAG others(68): Show AGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01099.hp1 HG01109.hp2 others(14): Show HG00609.hp1 HG01099.hp1 HG01109.hp2 HG01257.hp1 HG01258.hp2 HG02630.hp1 HG02723.hp2 HG02818.hp1 HG03540.hp2 HG04115.hp2 NA18981.hp1 NA18985.hp1 NA19043.hp2 NA19079.hp1 NA19086.hp1 NA19091.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0002c0002t0002 a0003c0004t0002	a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0021 others(10): Show a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0268 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0014g0234 a0002c0002t0002g0022 a0003c0004t0002g0235	17	316	0.0538	-75	c.-10 others(85): Show c.-1039_-965delGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGT	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		388		chr1	TogoVar
BCL9_chr1_147536501_147631216	147541114	AGAGAGGA others(68): Show AGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 NA19070.hp1 HG01192.hp2 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0010 a0003c0004t0002 a0001c0001t0010 a0003c0004t0002	a0001c0001t0010g0199 a0003c0004t0002g0019 a0001c0001t0010g0199 a0003c0004t0002g0019	2	316	0.0063	-75	c.-10 others(85): Show c.-1037_-963delGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		386		chr1	TogoVar
BCL9_chr1_147536501_147631216	147541116	AGAGGAGA others(68): Show AGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGTGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG06807.hp2 HG02572.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0240 a0001c0001t0008g0157 a0001c0001t0006g0240 a0001c0001t0008g0157	2	316	0.0063	-75	c.-10 others(85): Show c.-1035_-961delGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGT	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		384		chr1	TogoVar
BCL9_chr1_147536501_147631216	147541118	AGGAGAGA others(68): Show AGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGTGTGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	316	0.0032	-75	c.-10 others(85): Show c.-1033_-959delGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGT	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		382		chr1	TogoVar
BDH1_chr3_197504783_197560968	197510609	TGTGTGTG others(68): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0181 a0001c0001t0107g0181	1	319	0.0031	-75	c.12 others(86): Show c.1211_*1285delCTTACACACATGTACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BLVRA_chr7_43753680_43812342	43810125	CAAAATAA others(68): Show CAAAATAACAGGAAACGGAGGTCTCACCTAAGTCTCCTCCTCCAATAGAT AGGAAAAAGGACAGAGGATATGCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	414	0.0024	-75	c.28 others(86): Show c.2891_*2965delAAAATAACAGGAAACGGAGGTCTCACCTAAGTCT CCTCCTCCAATAGATAGGAAAAAGGACAGAGGATATGCTAT	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding		2784		chr7	TogoVar
C12orf56_chr12_64259762_64395758	64366318	TTATTATA others(68): Show TTATTATATATTATATACAGTTTATATATTATATATTATATACAGTTTAT ATATATTATATATAACATACAGTTTA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0082	1	312	0.0032	-75	c.253 others(94): Show c.253-13337_253-13263delTAAACTGTATGTTATATATAATATAT ATAAACTGTATATAATATATAATATATAAACTGTATATAATATATAATA	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C17orf67_chr17_56786913_56838920	56789643	GTGCAGAG others(68): Show GTGCAGAGTGTTTGTGGATGGGGGGAGGGCGGGCATAGTAGTGAGGGGCT TCCCAGGTTCAAATCCCAGGTCCTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	292	0.0034	-75	c.26 others(86): Show c.2655_*2729delAGAGGACCTGGGATTTGAACCTGGGAAGCCCCTC ACTACTATGCCCGCCCTCCCCCCATCCACAAACACTCTGCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding		2269		chr17	TogoVar
C17orf78_chr17_37370985_37397708	37378376	GGGTCATG others(68): Show GGGTCATGAATGGAAATGGGTTAGCTTGGCACTGTTCAGATTAAAAACCA GCTTTGGCCAGGCATGGTGGCTCACA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	441	0.0023	-75	c.145 others(90): Show c.145+412_145+486delGGTCATGAATGGAAATGGGTTAGCTTGGCA CTGTTCAGATTAAAAACCAGCTTTGGCCAGGCATGGTGGCTCACA	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	2/6			chr17	TogoVar
C1orf127_chr1_10941475_10987076	10985428	TTTGTATT others(68): Show TTTGTATTTTTAGTAGAGGCGGGGTTTCACCATCTTGGCCAGGCTGAACT TAAATTCCTGACCTCGAGATCCACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	392	0.0026	-75	c.-34 others(86): Show c.-3466_-3392delGGGTGGATCTCGAGGTCAGGAATTTAAGTTCAGC CTGGCCAAGATGGTGAAACCCCGCCTCTACTAAAAATACAA	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding		3353		chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181734552	CCTGACCC others(68): Show CCTGACCCCACACCTCATCCCTGCATTATGAATTCTACACCCTATCCTTG CCCTGACCCCACACCCCATCCCTGCG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0189 a0001c0001t0006g0189	1	206	0.0049	-75	c.326 others(92): Show c.3262+837_3262+911delTACACCCTATCCTTGCCCTGACCCCACA CCCCATCCCTGCGCTGACCCCACACCTCATCCCTGCATTATGAATTC	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181734693	GATCCCTG others(68): Show GATCCCTGCCCTGACCCCACACCTCATCCCTGCATTATGAATTCCACACC CTATCCTTGCCCTGACCCCATACCCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01891.hp2 HG02615.hp1 others(2): Show HG00280.hp2 HG01891.hp2 HG02615.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0011 a0001c0005t0018 others(1): Show a0001c0001t0006 a0001c0001t0011 a0001c0005t0018 a0001c0005t0030	a0001c0001t0006g0123 a0001c0001t0011g0038 a0001c0005t0018g0061 others(2): Show a0001c0001t0006g0123 a0001c0001t0011g0038 a0001c0005t0018g0061 a0001c0005t0030g0150 a0001c0005t0030g0178	5	206	0.0243	-75	c.326 others(94): Show c.3262+1013_3262+1087delTACCCCATCCCTGCCCTGACCCCACA CCTCATCCCTGCATTATGAATTCCACACCCTATCCTTGCCCTGACCCCA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344661	CCATACCT others(68): Show CCATACCTGTACATACATATATAGTACATACCTGTACATACATATATAGT ACATACCTGTACATACATATATAGTA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp2 HG02257.hp1 others(9): Show HG02027.hp1 HG02080.hp2 HG02257.hp1 HG02622.hp1 HG02896.hp1 HG03453.hp1 HG03486.hp1 NA18939.hp1 NA18951.hp1 NA18961.hp1 NA18980.hp1 NA19011.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0003c0004 a0004c0006 others(2): Show a0001c0001 a0003c0004 a0004c0006 a0004c0018 a0010c0019	a0001c0001t0001 a0003c0004t0001 a0004c0006t0001 others(2): Show a0001c0001t0001 a0003c0004t0001 a0004c0006t0001 a0004c0018t0001 a0010c0019t0001	a0001c0001t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0099 others(9): Show a0001c0001t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0004c0006t0001g0202 a0004c0006t0001g0203 a0004c0006t0001g0204 a0004c0006t0001g0206 a0004c0006t0001g0207 a0004c0018t0001g0205 a0010c0019t0001g0218	12	376	0.0319	-75	c.669 others(90): Show c.669+391_669+465delGTACATACCTGTACATACATATATAGTACA TACCTGTACATACATATATAGTACATACCTGTACATACATATATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLB_chr3_105650461_105874012	105859481	TTCTACTA others(68): Show TTCTACTAAAAATACAAAAACAAAATTAGCAGGGTGTGGTGGCAGGCGCC TGTAGTCCCAGGAACTTGGGAGGCTG	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0308 a0001c0003t0005g0308	1	380	0.0026	-75	c.169 others(92): Show c.169-5892_169-5818delCAGCCTCCCAAGTTCCTGGGACTACAGG CGCCTGCCACCACACCCTGCTAATTTTGTTTTTGTATTTTTAGTAGA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	2/18			chr3	TogoVar
CCDC57_chr17_82096470_82217842	82137679	TTTTTTTT others(68): Show TTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCGCCAGGCTGGAGTGC AGTGGCGCAATCTCGGCTCACTGCAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	252	0.0040	-75	c.245 others(94): Show c.2456-3560_2456-3486delTTGCAGTGAGCCGAGATTGCGCCACT GCACTCCAGCCTGGCGACACAGCGAGACTCCATCTCAAAAAAAAAAAAA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CCDC77_chr12_396644_447642	419605	TAAAACAC others(68): Show TAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp2 HG01928.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0011 a0001c0001t0002g0012	2	432	0.0046	-75	c.413 others(91): Show c.413+973_413+1047delACACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420646	TACACATA others(68): Show TACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0004 a0008c0013t0004	a0008c0013t0004g0419 a0008c0013t0004g0419	1	432	0.0023	-75	c.413 others(92): Show c.413+2014_413+2088delCATAGCAGCACACTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421160	TACACATA others(68): Show TACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAATAC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	432	0.0023	-75	c.413 others(92): Show c.413+2547_413+2621delCTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDH2_chr18_27945966_28182130	28177451	GGAGGTGG others(68): Show GGAGGTGGAAGTGGAGCGGATGGCGCTCCCCAAGAGCTCCGCCACGCGAG GTTTCGGGCTCGTGGTTTTGCTTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18984.hp2 NA19072.hp2 NA18983.hp2 NA18984.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0029 a0001c0001t0004 a0001c0002t0029	a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0002t0029g0004 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0002t0029g0004	3	268	0.0112	-75	c.-50 others(84): Show c.-504_-430delAGGAAGCAAAACCACGAGCCCGAAACCTCGCGTGGC GGAGCTCTTGGGGAGCGCCATCCGCTCCACTTCCACCTC	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding		322		chr18	TogoVar
CDH4_chr20_61247261_61945617	61933635	CGTGAGGC others(68): Show CGTGAGGCATGTGCCTTGCGGAGGCCCAGCTCCTGGCCACCTTCCCCGCC CCTCCCGCAACACGACCATAACGAAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp2 HG02723.hp1 others(2): Show HG01255.hp1 HG02622.hp2 HG02723.hp1 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0013	a0001c0001t0019 a0001c0003t0037 a0001c0006t0006 others(2): Show a0001c0001t0019 a0001c0003t0037 a0001c0006t0006 a0001c0006t0029 a0001c0013t0006	a0001c0001t0019g0091 a0001c0003t0037g0023 a0001c0006t0006g0029 others(2): Show a0001c0001t0019g0091 a0001c0003t0037g0023 a0001c0006t0006g0029 a0001c0006t0029g0035 a0001c0013t0006g0036	5	106	0.0472	-75	c.238 others(92): Show c.2380-383_2380-309delACCTTCCCCGCCCCTCCCGCAACACGAC CATAACGAATGTGAGGCATGTGCCTTGCGGAGGCCCAGCTCCTGGCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEACAM19_chr19_44666482_44689355	44667703	TTATATAA others(68): Show TTATATAAATATATATAAATTATATATTTATATATATAATATATAAATTA TATAAATTATATATATTTATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	390	0.0026	-75	c.-42 others(86): Show c.-4228_-4154delTATATAAATATATATAAATTATATATTTATATAT ATAATATATAAATTATATAAATTATATATATTTATATATAA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3778		chr19	TogoVar
CEP131_chr17_81184596_81227965	81197520	TGCTGCAT others(68): Show TGCTGCATAACTAGGTGGGTACATGGTGAGGGACCACCTCCTGCTGGGGG CCGGGTGGGGGCTGGCGAGAGACCTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG02970.hp1 HG02258.hp2 HG02723.hp1 HG02970.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0130 a0015c0022t0001g0131 a0015c0022t0001g0132 a0015c0022t0001g0130 a0015c0022t0001g0131 a0015c0022t0001g0132	3	384	0.0078	-75	c.164 others(92): Show c.1647+117_1647+191delGAGGTCTCTCGCCAGCCCCCACCCGGCC CCCAGCAGGAGGTGGTCCCTCACCATGTACCCACCTAGTTATGCAGC	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	13/25			chr17	TogoVar
CEP72_chr5_607340_658553	650113	GACTGTGA others(68): Show GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGAGGTGTGACTGAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0022	1	91	0.0110	-75	c.177 others(94): Show c.1778+2198_1778+2272delACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CHST11_chr12_104451948_104767014	104664530	AGCAACAG others(68): Show AGCAACAGTCACTGTGAAATGTTACAAGTGCAAACAGCCCCAGTCCCTCC TCAGACAGAGCATGCTGCCCATGCCG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	240	0.0042	-75	c.204 others(94): Show c.204+62554_204+62628delGAAATGTTACAAGTGCAAACAGCCCC AGTCCCTCCTCAGACAGAGCATGCTGCCCATGCCGGCAACAGTCACTGT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST8_chr19_33616953_33778506	33757454	GAAAGAAA others(68): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	254	0.0039	-75	c.131 others(94): Show c.131-13956_131-13882delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIART_chr1_150277554_150292093	150283037	AGCTCTTA others(68): Show AGCTCTTAATGGGCGGGGGTGGGGGTAGAAATGTCTTTTTCTATTGTGTT TGAGACCGGTAATATTGGGGAGGGGG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	416	0.0024	-75	c.-23 others(84): Show c.-230_-156delGCTCTTAATGGGCGGGGGTGGGGGTAGAAATGTCTT TTTCTATTGTGTTTGAGACCGGTAATATTGGGGAGGGGG	CIART	ENSG00000159208.16	transcript	ENST00000290363.6	protein_coding	1/5	156		chr1	TogoVar

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