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
TBC1D5_chr3_17152168_17747631	17471559	TAAAAAAT others(124): Show TAAAAAATCAAAATAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01433.hp1 others(34): Show HG00280.hp1 HG01109.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18957.hp2 NA18975.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(34): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0045 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0159 a0001c0001t0003g0109 a0001c0001t0004g0114 a0001c0001t0004g0161 a0001c0001t0006g0003 a0001c0001t0006g0043 a0001c0001t0006g0110 a0001c0001t0007g0156 a0001c0001t0008g0081 a0001c0001t0009g0123 a0001c0001t0011g0158 a0001c0001t0011g0160 a0001c0001t0012g0162 a0002c0002t0001g0154 a0003c0005t0001g0115	37	162	0.2284	-131	c.97+ others(17): Show c.97+36784_97+36914del	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	3/22			chr3	TogoVar
THEG_chr19_356747_381026	376723	CCACCCAG others(124): Show CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCCTCC GTGCCCCACCCAGCCTCTCCCCCCCCGTGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0107 a0001c0001t0036g0107	1	370	0.0027	-131	c.-88 others(9): Show c.-884_-754del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		698		chr19	TogoVar
THSD7B_chr2_136760545_137682718	136890373	CTTCCTCT others(124): Show CTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTTCTC CTTTCTTCTCCTTTCTTCTCCTTTCTTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02895.hp2 HG04199.hp2 others(1): Show HG02056.hp2 HG02895.hp2 HG04199.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0028 a0002c0029 others(1): Show a0001c0004 a0002c0028 a0002c0029 a0002c0052	a0001c0004t0006 a0002c0028t0001 a0002c0029t0001 others(1): Show a0001c0004t0006 a0002c0028t0001 a0002c0029t0001 a0002c0052t0008	a0001c0004t0006g0023 a0002c0028t0001g0055 a0002c0029t0001g0024 others(1): Show a0001c0004t0006g0023 a0002c0028t0001g0055 a0002c0029t0001g0024 a0002c0052t0008g0042	4	98	0.0408	-131	c.139 others(17): Show c.139+8060_139+8190del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMC1_chr9_72516608_72843297	72840390	AGGCAGAG others(124): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCACC CCTCACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02280.hp2 HG03098.hp2 HG01978.hp2 HG02280.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0024 a0001c0003t0035 a0002c0002t0001 a0001c0003t0024 a0001c0003t0035 a0002c0002t0001	a0001c0003t0024g0030 a0001c0003t0035g0008 a0002c0002t0001g0065 a0001c0003t0024g0030 a0001c0003t0035g0008 a0002c0002t0001g0065	3	182	0.0165	-131	c.44 others(11): Show c.4418_*4548del	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding		2094		chr9	TogoVar
TMCO3_chr13_113486021_113555229	113506158	GGCTGCCT others(124): Show GGCTGCCTGGCCTGTGGAGGAAGGAGCCTGTTACGGGTGGGGAGGGTAAG GGGGCGTGGGCCACGTGGCTGCCTGGCCTGTGGAGGAAGGAGCCTGTTAT GGGTGGGGAGGGTAAGGGGGAGTGGGCCGCGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00621.hp2 others(51): Show HG00408.hp1 HG00438.hp2 HG00621.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02080.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02615.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03654.hp1 HG03704.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18953.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18987.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19066.hp1 NA19090.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0003 a0002c0019 a0004c0008 others(1): Show a0002c0003 a0002c0019 a0004c0008 a0009c0020	a0002c0003t0003 a0002c0019t0003 a0004c0008t0004 others(1): Show a0002c0003t0003 a0002c0019t0003 a0004c0008t0004 a0009c0020t0003	a0002c0003t0003g0005 a0002c0003t0003g0020 a0002c0003t0003g0021 others(48): Show a0002c0003t0003g0005 a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0255 a0002c0003t0003g0256 a0002c0003t0003g0257 a0002c0003t0003g0258 a0002c0003t0003g0259 a0002c0003t0003g0260 a0002c0003t0003g0261 a0002c0003t0003g0262 a0002c0003t0003g0263 a0002c0003t0003g0264 a0002c0003t0003g0265 a0002c0003t0003g0266 a0002c0003t0003g0267 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0275 a0002c0003t0003g0276 a0002c0003t0003g0277 a0002c0003t0003g0278 a0002c0003t0003g0279 a0002c0003t0003g0280 a0002c0003t0003g0281 a0002c0003t0003g0282 a0002c0003t0003g0283 a0002c0003t0003g0284 a0002c0003t0003g0285 a0002c0003t0003g0286 a0002c0003t0003g0288 a0002c0003t0003g0289 a0002c0003t0003g0290 a0002c0003t0003g0291 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0295 a0002c0003t0003g0296 a0002c0003t0003g0297 a0002c0003t0003g0298 a0002c0003t0003g0299 a0002c0003t0003g0300 a0002c0019t0003g0287 a0004c0008t0004g0110 a0009c0020t0003g0005	54	368	0.1467	-131	c.103 others(19): Show c.1038+2593_1038+2723del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM184C_chr4_147612397_147641721	147627906	CAGTTCCA others(124): Show CAGTTCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTACTTGAGCCCAGG AGGTCAAGAGTAGCCTGGGCAACATAGTGAGACCCCATGTCTACAGAAAA TAAATTAGCCAGGTGTGGTGGTATGCAGATAT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	336	0.0030	-131	c.498 others(15): Show c.498-419_498-289del	TMEM184C	ENSG00000164168.8	transcript	ENST00000296582.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
TNN_chr1_175062833_175153075	175107164	CTCGTGGT others(124): Show CTCGTGGTGAGTGTTACAGCTCTTAAGGTGGCGCATCTGGAGTCTGTCCC TTCTGATGTTCAGATGTGTTTGGAGTTTCTTCCTTCTGGTGGGTTCGTGG TCTTGCTGGCTCAGGAGTGAAGCTGCAGACCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01361.hp2 HG01255.hp2 HG01361.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0212 a0005c0003t0001g0257 a0005c0003t0001g0212 a0005c0003t0001g0257	2	374	0.0054	-131	c.211 others(19): Show c.2119+8630_2119+8760del	TNN	ENSG00000120332.17	transcript	ENST00000239462.9	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPO_chr2_1408463_1548673	1536867	CCGAATAC others(124): Show CCGAATACCCACCACTCTGTGCAACCTCCCCAAATCCCAACTGTTTGCAA CCTCCCAAATCCCCCCCAATGTGAGCAACCTCTCAAATCCCCCTGTGTGC AACCCCCCAATCTCCCCCACTGTGTGCAACCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG02080.hp2 others(12): Show HG00408.hp2 HG00423.hp1 HG02080.hp2 HG03654.hp2 HG04204.hp2 NA18612.hp2 NA18985.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0020	a0001c0001 a0002c0015 a0003c0003 others(3): Show a0001c0001 a0002c0015 a0003c0003 a0003c0006 a0004c0005 a0020c0024	a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 others(5): Show a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0004c0005t0005 a0020c0024t0005	a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 others(11): Show a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0103 a0003c0006t0011g0085 a0004c0005t0005g0071 a0020c0024t0005g0009	15	130	0.1154	-131	c.261 others(19): Show c.2619-3725_2619-3595del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXK_chr4_48061393_48139250	48104337	ATATATAT others(124): Show ATATATATAATATATAATATAATATATAATATATATAATATATAATATTA TATATAATATATATAATATATAATATTATATATAATATATATAATATATA ATATTATATATAATATATATAATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00639.hp1 others(45): Show HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02738.hp2 HG02976.hp1 HG03492.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18949.hp1 NA18960.hp2 NA18967.hp1 NA19001.hp1 NA19064.hp1 NA19075.hp2 NA19080.hp2 NA19082.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0012 a0002c0013	a0001c0001t0006 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0006 a0001c0002t0001 a0002c0003t0001 a0002c0012t0002 a0002c0013t0001	a0001c0001t0006g0247 a0001c0002t0001g0014 a0001c0002t0001g0090 others(39): Show a0001c0001t0006g0247 a0001c0002t0001g0014 a0001c0002t0001g0090 a0001c0002t0001g0248 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0036 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0087 a0002c0003t0001g0093 a0002c0003t0001g0173 a0002c0003t0001g0235 a0002c0003t0001g0238 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0246 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0265 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0329 a0002c0003t0001g0330 a0002c0012t0002g0252 a0002c0013t0001g0045	48	362	0.1326	-131	c.501 others(15): Show c.501+433_501+563del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
TYMS_chr18_652653_678578	666895	GGTGATGG others(124): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGG TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGAGAT	G G	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0106 a0001c0002t0005g0106	1	482	0.0021	-131	c.455 others(17): Show c.455-2175_455-2045del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBE2J2_chr1_1248912_1278854	1248917	GGGCCTCC others(124): Show GGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGC TGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACG GGCAGCCCTGGGAGGCTGGAGCGAGGGAGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	324	0.0031	-131	c.61 others(11): Show c.6155_*6285del	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4994		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1248983	GGGCCTCC others(124): Show GGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGC TGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACG GGCAGCCCTGGGAGGCTGGACCGAGGGAGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	324	0.0031	-131	c.60 others(11): Show c.6089_*6219del	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4928		chr1	TogoVar
UBE3A_chr15_25328728_25444024	25430071	TAATACAT others(124): Show TAATACATATATATAAGATTATATATATATTATATATATAATACATATAT ATAAGATTATATATATATTATATATATAATACATATATATAAGATTATAT ATATATTATATATATAATACATATATATAAGA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0295 a0001c0003t0021g0295	1	298	0.0034	-131	c.-16 others(19): Show c.-165+8287_-165+8417del	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54552867	TAATATAT others(124): Show TAATATATATTGTATTCTATATTACTATATATATATTAATATATAATATA TATTGTATTCTATATTACATTATATAATATATATTGTATTCTATATTACA ATATATATTATATATTGTATTCTATATTACAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02897.hp1 HG03540.hp2 HG00639.hp2 HG02897.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0033 a0001c0001 a0001c0002 a0001c0033	a0001c0001t0016 a0001c0002t0013 a0001c0033t0033 a0001c0001t0016 a0001c0002t0013 a0001c0033t0033	a0001c0001t0016g0113 a0001c0002t0013g0153 a0001c0033t0033g0093 a0001c0001t0016g0113 a0001c0002t0013g0153 a0001c0033t0033g0093	3	158	0.0190	-131	c.587 others(19): Show c.5878-2564_5878-2434del	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32			chr15	TogoVar
USP40_chr2_233470526_233571782	233566988	TTATAAGA others(124): Show TTATAAGATTATAGCTATATGATCTTATATAAGATTATAGCTATATGATC TTATATAAGATTATAGCTATATGATCTTATATAAGATTATAGCTATATGA TCCTTATATAAGATTATAGCTATATGATCTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0019 a0004c0021t0019	a0004c0021t0019g0048 a0004c0021t0019g0048	1	324	0.0031	-131	c.-45 others(9): Show c.-455_-325del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		207		chr2	TogoVar
WNT9B_chr17_46846583_46885560	46873688	GTCTCTAC others(124): Show GTCTCTACTAAAAATACAAAAATTTAAACACTGCAGTTGGCCGGTTGCCA TGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGTCAGGAGTTT GTAACCAGCGTGGTCAAAATGGTGAAACCCCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02895.hp1 HG03195.hp2 others(1): Show HG02258.hp1 HG02895.hp1 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0022 a0001c0003t0004g0180 a0001c0003t0004g0308 a0001c0003t0004g0022 a0001c0003t0004g0180 a0001c0003t0004g0308	4	387	0.0103	-131	c.334 others(16): Show c.334+939_334+1069del	WNT9B	ENSG00000158955.11	transcript	ENST00000290015.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZFPM2_chr8_105313438_105809539	105380635	TATATATA others(124): Show TATATATATATTATATATATATATTATATATAACATATATATTATATATA TATTATATATAACATATATAATATATATATATATTATATATAACATATAT ATTATATATATATGTTATATATAACATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp1 HG01884.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0057 a0001c0001t0009g0056 a0001c0001t0001g0057 a0001c0001t0009g0056	2	92	0.0217	-131	c.41- others(17): Show c.41-38501_41-38371del	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF180_chr19_44469443_44505522	44488091	GTCTCCCT others(124): Show GTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTCCTTCTCTTTCCACG GTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTCCTTCTCTTTCCACG GTCTCCCTCTCCCTCTCTTTCCACGGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0068 a0003c0004t0004g0068	1	428	0.0023	-131	c.52- others(15): Show c.52-3787_52-3657del	ZNF180	ENSG00000167384.11	transcript	ENST00000592529.6	protein_coding	2/4			chr19	TogoVar
ZNF511_chr10_133303914_133318161	133317815	CCCCCCCC others(124): Show CCCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACACAG AGATGGAAAGACCACACCCCCCCCCCAGACACAGAGATGGAAAGACCACA CCCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG04115.hp1 NA19064.hp1 HG01257.hp1 HG04115.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	282	0.0106	-131	c.49 others(11): Show c.4950_*5080del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4655		chr10	TogoVar
ZNF605_chr12_132913306_132961306	132939883	CACTCCAG others(124): Show CACTCCAGACGCACTACCTTAAGAGCTGTAACACTCACCGCGAAGGTCTG CAGCTTCACTCCTGAGCCAGCGAGACCACGAACCCACCAGAAGGAAGAAA CTCCGAACACAGCTGAACATCAGAAGGGACAG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0011 a0001c0006t0027g0011	1	126	0.0079	-131	c.15+ others(15): Show c.15+5607_15+5737del	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	3/4			chr12	TogoVar
ABR_chr17_998519_1184981	1006842	GCGCCATG others(123): Show GCGCCATGACGTCATGGGACCGTCACCCTCCGCCAGCCACGGGCCCGGGC GGTGCCAGGGTACCTGCGCCATGACGTCATGGGACCGTCACCCTCCGCCA GCCACGGGCCCGGGCGGTGCCAGGGTACCTA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02647.hp1 HG02647.hp2 others(12): Show HG01192.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG03516.hp2 HG03669.hp2 HG03927.hp2 HG04199.hp2 NA18971.hp2 NA19000.hp1 NA19005.hp1 NA19030.hp2 NA19065.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0013	a0001c0001t0015 a0001c0001t0018 a0001c0001t0030 others(7): Show a0001c0001t0015 a0001c0001t0018 a0001c0001t0030 a0001c0001t0058 a0001c0001t0084 a0001c0002t0053 a0001c0002t0085 a0001c0003t0025 a0001c0009t0018 a0001c0013t0018	a0001c0001t0015g0262 a0001c0001t0015g0265 a0001c0001t0015g0275 others(12): Show a0001c0001t0015g0262 a0001c0001t0015g0265 a0001c0001t0015g0275 a0001c0001t0015g0292 a0001c0001t0018g0111 a0001c0001t0030g0107 a0001c0001t0030g0210 a0001c0001t0058g0076 a0001c0001t0084g0330 a0001c0002t0053g0070 a0001c0002t0085g0328 a0001c0003t0025g0006 a0001c0003t0025g0009 a0001c0009t0018g0102 a0001c0013t0018g0108	15	337	0.0445	-130	c.249 others(17): Show c.2490+193_2490+322del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	22/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288676	CTCCGTCC others(123): Show CTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0124 a0008c0009t0003g0124	1	295	0.0034	-130	c.47 others(11): Show c.4758_*4887del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3714		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289422	TCTGCTCC others(123): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	295	0.0034	-130	c.40 others(11): Show c.4012_*4141del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2968		chr1	TogoVar
AFAP1_chr4_7753714_7944861	7789466	CCTGCTTT others(123): Show CCTGCTTTCCATCCTCTTCATCCTCACCACCCCATCCGTGCATCTCCCCA TGCTCCGCACAAGCCCCTGCTTTCCATCCTTTTCATCATCACCATCCCAT CCGTGCATCTCCCCACGCTCCGCACCAGCCG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02717.hp2 HG02897.hp1 others(5): Show HG01433.hp1 HG02717.hp2 HG02897.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0022 a0001c0031 a0001c0009 a0001c0022 a0001c0031	a0001c0009t0009 a0001c0009t0041 a0001c0009t0042 others(2): Show a0001c0009t0009 a0001c0009t0041 a0001c0009t0042 a0001c0022t0024 a0001c0031t0071	a0001c0009t0009g0246 a0001c0009t0009g0277 a0001c0009t0009g0278 others(5): Show a0001c0009t0009g0246 a0001c0009t0009g0277 a0001c0009t0009g0278 a0001c0009t0009g0279 a0001c0009t0041g0202 a0001c0009t0042g0229 a0001c0022t0024g0135 a0001c0031t0071g0313	8	318	0.0252	-130	c.141 others(19): Show c.1413-3285_1413-3156del	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	11/17			chr4	TogoVar
ALDH1L2_chr12_105014790_105089458	105036156	ATATAATA others(123): Show ATATAATATATACACGTATATTTATATATGTGTATATAATATATACACGT ATATTTATATATGTGTATATAATATATACACGTATATTTATATATGTGTA TATAATATATACACGTATATTTATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01243.hp1 others(19): Show HG00280.hp2 HG00642.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01517.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010	a0001c0002t0007g0001 a0001c0002t0007g0053 a0001c0002t0007g0054 others(18): Show a0001c0002t0007g0001 a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0002t0007g0055 a0001c0002t0007g0065 a0001c0002t0007g0066 a0001c0002t0007g0067 a0001c0002t0009g0015 a0001c0002t0009g0019 a0001c0002t0009g0048 a0001c0002t0009g0056 a0001c0002t0009g0058 a0001c0002t0009g0060 a0001c0002t0009g0061 a0001c0002t0009g0095 a0001c0002t0009g0252 a0001c0002t0010g0084 a0001c0002t0010g0181 a0001c0002t0010g0196 a0001c0002t0010g0279 a0001c0002t0010g0352	22	386	0.0570	-130	c.214 others(19): Show c.2145+1817_2146-1759del	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759078	GGAGTGGC others(123): Show GGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCAGAGTGG CACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCC GGGGCACCCACGTGGCAGAGTGGATCATGCA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0329 a0003c0003t0001g0329	1	350	0.0029	-130	c.181 others(17): Show c.181+2410_181+2539del	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKRD31_chr5_75063297_75241878	75238860	ACAAAAAC others(123): Show ACAAAAACATTACCAAACTTGTAAATAAACACCAAAACACCTTTACTATT AAACATTGAAATAAACGTGAGCTATATATATATTTATTAAATATATATAT TTAAGAAATATCTTAAATATATATCAGATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0244 a0002c0001t0002g0244	1	334	0.0030	-130	c.-23 others(11): Show c.-2304_-2175del	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding		1983		chr5	TogoVar
ANOS1_chrX_8523874_8737137	8725597	TATATATA others(123): Show TATATATATACAGATATATATATATACAGATATATATATACAGATATATA TACAGATATATATATATACAGATATATATATACAGATATATATATATACA GATATATATATACAGATATATATATATACAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02280.hp2 others(1): Show HG02109.hp2 HG02257.hp2 HG02280.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 others(1): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0002t0021	a0002c0002t0001g0009 a0002c0002t0004g0010 a0002c0002t0008g0011 others(1): Show a0002c0002t0001g0009 a0002c0002t0004g0010 a0002c0002t0008g0011 a0002c0002t0021g0004	4	231	0.0173	-130	c.207 others(17): Show c.207+6103_207+6232del	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	1/13			chrX	TogoVar
AQP12A_chr2_240686866_240703483	240693786	ATCTCTCT others(123): Show ATCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCTCTGT CTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTC TCTGTCTCCCTGTCTCTCTCTGTCTCTCCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(35): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG01069.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03490.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 NA18950.hp2 NA18966.hp1 NA19062.hp2 NA20129.hp1 NA20129.hp2	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0008	a0003c0003 a0003c0019 a0006c0005 others(3): Show a0003c0003 a0003c0019 a0006c0005 a0006c0013 a0007c0008 a0008c0014	a0003c0003t0001 a0003c0019t0001 a0006c0005t0001 others(3): Show a0003c0003t0001 a0003c0019t0001 a0006c0005t0001 a0006c0013t0001 a0007c0008t0001 a0008c0014t0001	a0003c0003t0001g0002 a0003c0003t0001g0022 a0003c0003t0001g0063 others(11): Show a0003c0003t0001g0002 a0003c0003t0001g0022 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0019t0001g0002 a0006c0005t0001g0006 a0006c0005t0001g0012 a0006c0005t0001g0024 a0006c0005t0001g0065 a0006c0013t0001g0006 a0006c0013t0001g0066 a0007c0008t0001g0002 a0007c0008t0001g0022 a0008c0014t0001g0023	38	171	0.2222	-130	c.572 others(15): Show c.572-524_572-395del	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP11A_chr15_32610504_32644941	32614371	CTCATCAT others(123): Show CTCATCATTCTATAGTCTATAGCACGAGTTCAATAAACAGTTGTTAAAGC AACATATTTAACTTACATTTTGTTCCCATCTCTTCACTCAGAGACTTTTC TTTGGATTGGGAAGGGTAAAATATCCGAAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	335	0.0030	-130	c.-18 others(11): Show c.-1840_-1711del	ARHGAP11A	ENSG00000198826.11	transcript	ENST00000361627.8	protein_coding		1132		chr15	TogoVar
ASPG_chr14_104080700_104120582	104097826	ACGTATGG others(123): Show ACGTATGGAGGTTCTGCGTTAGAGATGCATATGGAGGTTCTACGTTAGAG ATACGTATGGAGGTTCTGCGTTAGAGATGCGTATGGAGGTTCTGCGTTAG AGATGCGTATGGAGGTTCTGTGTTAGAGATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG02280.hp1 others(4): Show HG00735.hp1 HG01099.hp2 HG02280.hp1 HG02886.hp1 HG02976.hp1 HG03041.hp1 NA18943.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0006 a0001c0001t0001 a0002c0003t0006	a0001c0001t0001g0141 a0002c0003t0006g0050 a0002c0003t0006g0051 others(2): Show a0001c0001t0001g0141 a0002c0003t0006g0050 a0002c0003t0006g0051 a0002c0003t0006g0240 a0002c0003t0006g0241	7	368	0.0190	-130	c.513 others(15): Show c.513+217_513+346del	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ATP11A_chr13_112685038_112892168	112845370	TATTCAGT others(123): Show TATTCAGTCCAGTTGCCAGCACTAGCGGTACTATTCAGTCCAGTTGCCAG GCACTAGTGGTTCTAACCAGTCCAGTTGCCAGCACTAGCGGTACTATTCA GTCCAGTTGCCAGGCACTAGTGGTTCTAACC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02559.hp1 others(6): Show HG01243.hp1 HG01891.hp1 HG02559.hp1 HG02572.hp1 HG02970.hp1 HG02976.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 others(6): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 a0001c0002t0016 a0001c0002t0034 a0001c0002t0047 a0001c0002t0053 a0001c0009t0004 a0001c0009t0049	a0001c0001t0001g0210 a0001c0002t0003g0198 a0001c0002t0013g0117 others(6): Show a0001c0001t0001g0210 a0001c0002t0003g0198 a0001c0002t0013g0117 a0001c0002t0016g0209 a0001c0002t0034g0042 a0001c0002t0047g0112 a0001c0002t0053g0116 a0001c0009t0004g0140 a0001c0009t0049g0141	9	254	0.0354	-130	c.180 others(19): Show c.1809+2993_1809+3122del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BOP1_chr8_144257045_144296438	144286426	TCAGCTAA others(123): Show TCAGCTAAAGCACAGGACACGCGGGCAGGTGCATGGGCGCCACGGCAGGG CAGGGCCTCGGCCCCTCAGCTAAAGCACAGGACACGCGGGCAGGTGCATG GGCGCCACGGCAGGGCAGGGCCTCGGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03225.hp2 HG03710.hp2 others(1): Show HG02523.hp1 HG03225.hp2 HG03710.hp2 HG03834.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0007 a0001c0001 a0001c0006 a0004c0007	a0001c0001t0001 a0001c0006t0001 a0004c0007t0001 a0001c0001t0001 a0001c0006t0001 a0004c0007t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0006t0001g0181 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0006t0001g0181 a0004c0007t0001g0064	4	398	0.0101	-130	c.309 others(17): Show c.309+2539_309+2668del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BPIFB2_chr20_33002704_33028703	33025268	TACCCATC others(123): Show TACCCATCAATCCATATAACCATTCATCCATTTGTTCATCATCCATCCAT TCACCCATGCATCCACCTACGCACTACCGATCAATCCATATAACCATCCA TCCATTCGTTCATCCATCCATCCATCCACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02257.hp2 others(7): Show HG01109.hp2 HG02055.hp2 HG02257.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0010 a0001c0001 a0001c0002 a0004c0010	a0001c0001t0002 a0001c0002t0002 a0004c0010t0002 a0001c0001t0002 a0001c0002t0002 a0004c0010t0002	a0001c0001t0002g0027 a0001c0001t0002g0049 a0001c0001t0002g0060 others(6): Show a0001c0001t0002g0027 a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0002g0149 a0001c0002t0002g0070 a0001c0002t0002g0091 a0001c0002t0002g0139 a0001c0002t0002g0144 a0004c0010t0002g0094	10	388	0.0258	-130	c.18 others(11): Show c.1886_*2015del	BPIFB2	ENSG00000078898.7	transcript	ENST00000170150.4	protein_coding		1566		chr20	TogoVar
C15orf40_chr15_82989817_83016639	82997738	GTGGCCGG others(123): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCAGGGCAGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp2 others(167): Show HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(62): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0051 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0146 a0001c0001t0147 a0001c0001t0151 a0001c0001t0152 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0162 a0001c0001t0167 a0001c0001t0168 a0002c0002t0003 a0002c0002t0024 a0002c0002t0028 a0002c0002t0033 a0002c0002t0050 a0003c0003t0149 a0006c0006t0012 a0007c0007t0089	a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0125 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0144 a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0008g0013 a0001c0001t0008g0099 a0001c0001t0008g0143 a0001c0001t0012g0016 a0001c0001t0017g0024 a0001c0001t0017g0032 a0001c0001t0019g0017 a0001c0001t0020g0021 a0001c0001t0020g0078 a0001c0001t0025g0022 a0001c0001t0032g0036 a0001c0001t0033g0056 a0001c0001t0034g0037 a0001c0001t0035g0038 a0001c0001t0036g0039 a0001c0001t0037g0044 a0001c0001t0038g0045 a0001c0001t0051g0080 a0001c0001t0066g0082 a0001c0001t0067g0137 a0001c0001t0068g0138 a0001c0001t0069g0083 a0001c0001t0070g0084 a0001c0001t0071g0085 a0001c0001t0072g0086 a0001c0001t0073g0087 a0001c0001t0074g0088 a0001c0001t0075g0089 a0001c0001t0076g0090 a0001c0001t0077g0091 a0001c0001t0078g0126 a0001c0001t0085g0129 a0001c0001t0086g0097 a0001c0001t0087g0098 a0001c0001t0088g0139 a0001c0001t0090g0100 a0001c0001t0091g0101 a0001c0001t0092g0102 a0001c0001t0093g0103 a0001c0001t0094g0130 a0001c0001t0095g0104 a0001c0001t0097g0106 a0001c0001t0098g0127 a0001c0001t0099g0107 a0001c0001t0100g0108 a0001c0001t0101g0131 a0001c0001t0102g0109 a0001c0001t0103g0147 a0001c0001t0146g0116 a0001c0001t0147g0073 a0001c0001t0151g0118 a0001c0001t0152g0057 a0001c0001t0158g0141 a0001c0001t0159g0142 a0001c0001t0160g0119 a0001c0001t0162g0120 a0001c0001t0167g0123 a0001c0001t0168g0124 a0002c0002t0003g0182 a0002c0002t0024g0028 a0002c0002t0028g0030 a0002c0002t0033g0165 a0002c0002t0050g0055 a0003c0003t0149g0195 a0006c0006t0012g0185 a0007c0007t0089g0186	170	406	0.4187	-130	c.77 others(11): Show c.7729_*7858del	C15orf40	ENSG00000169609.14	transcript	ENST00000304177.10	protein_coding	4/4	7729		chr15	TogoVar
C2CD4C_chr19_400445_414147	404806	GACGGGGT others(123): Show GACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGGGGGGGGG ACGGGGTCCTGCCCTGAGGGGTGTGGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0071 a0001c0001t0065g0071	1	322	0.0031	-130	c.21 others(11): Show c.2160_*2289del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		638		chr19	TogoVar
C7orf50_chr7_992006_1143247	1039423	GGTCAGCC others(123): Show GGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00639.hp1 others(11): Show HG00140.hp2 HG00280.hp1 HG00639.hp1 HG01168.hp2 HG01243.hp2 HG01928.hp1 HG02273.hp1 HG02630.hp2 HG02922.hp2 HG03491.hp2 NA18747.hp1 NA18955.hp1 NA19004.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0001 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0042 others(11): Show a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0009g0131 a0001c0001t0009g0133 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0001t0011g0309 a0001c0001t0011g0311	14	326	0.0429	-130	c.130 others(19): Show c.130-29410_130-29281del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12401066	TTATATAT others(123): Show TTATATATATAATATATGTATTATATATATTATATATATATTTTATATAT ATAATATATGTATTATATATATTATATATATATTTTATATATATATAATA TATGTATTATATATATTATATATATATTTTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02717.hp1 others(6): Show HG01891.hp1 HG02280.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0019 a0001c0001t0035 others(6): Show a0001c0001t0013 a0001c0001t0019 a0001c0001t0035 a0001c0001t0039 a0001c0001t0088 a0001c0001t0104 a0001c0002t0010 a0001c0002t0027 a0001c0002t0061	a0001c0001t0013g0107 a0001c0001t0019g0086 a0001c0001t0035g0106 others(6): Show a0001c0001t0013g0107 a0001c0001t0019g0086 a0001c0001t0035g0106 a0001c0001t0039g0014 a0001c0001t0088g0087 a0001c0001t0104g0089 a0001c0002t0010g0079 a0001c0002t0027g0116 a0001c0002t0061g0033	9	214	0.0421	-130	c.92+ others(17): Show c.92+51209_92+51338del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44221430	CAGAGAAG others(123): Show CAGAGAAGGAGCCGTCAGCAAGGCCACCCGGAGGCCGGGGAGGAGGAAGC AGCAGGGGGCGGCCACGTGCGGCGCAGGCTGCAGGGTTCCCCGGAGCGAT GACCAGGGCTGTCCCCGCAGCAGGAAGAACG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0201 a0001c0004t0023g0201	1	242	0.0041	-130	c.159 others(17): Show c.1598-659_1598-530del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	20/23			chr7	TogoVar
CARM1_chr19_10866553_10928075	10874279	ACATTCCT others(123): Show ACATTCCTCAGAGAGCCTCAGTCCCAGATTCCCAGATGATATATCCTTAG GGTTCTGAAATAATTTTTTTTTACACTTTTTTGTTTTTTTTCTTTCTTTT TTATTTTTTTTATTTTTATTTTTTATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0165 a0001c0001t0028g0165	1	354	0.0028	-130	c.220 others(17): Show c.220+2360_220+2489del	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10880831	CCCTGGAG others(123): Show CCCTGGAGGTTTTCGTGGAGGGGAGGAAACACATGTAAAATACTTCACCC CAGTTGGGCACAGAGGCTCATGCCTGTAATCCCAGGTTTTGGGAGGCCGA GGCAGCAGGGCGGTTTGAGTCCAGGAATTTA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01952.hp1 HG02109.hp1 HG01884.hp1 HG01952.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0195 a0001c0001t0002g0267 a0001c0001t0028g0265 a0001c0001t0002g0195 a0001c0001t0002g0267 a0001c0001t0028g0265	3	354	0.0085	-130	c.220 others(17): Show c.220+8911_220+9040del	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25429755	TTCTTAAA others(123): Show TTCTTAAAATGATTAGTTATATTGATTAATTTTTTGAATATCAAATATTT GATTCCTGGGATAAGTCTCATTTGGCCATGATATATAATTATTATTATAT ATATATTTTTGAGACGGAGTCTCACTCTGTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02258.hp2 others(5): Show HG01243.hp1 HG02055.hp1 HG02258.hp2 HG02895.hp2 HG02970.hp2 HG03130.hp1 HG03516.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0008 a0001c0002t0010 a0002c0005t0003 others(3): Show a0001c0001t0008 a0001c0002t0010 a0002c0005t0003 a0002c0005t0007 a0002c0005t0016 a0002c0005t0024	a0001c0001t0008g0101 a0001c0002t0010g0170 a0002c0005t0003g0011 others(5): Show a0001c0001t0008g0101 a0001c0002t0010g0170 a0002c0005t0003g0011 a0002c0005t0003g0028 a0002c0005t0007g0172 a0002c0005t0007g0173 a0002c0005t0016g0171 a0002c0005t0024g0162	8	186	0.0430	-130	c.249 others(17): Show c.249+3196_249+3325del	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	4/36			chr6	TogoVar
CDC73_chr1_193117031_193259815	193161730	ATATATAA others(123): Show ATATATAATATATATCATATTATATTGTATATAATATATATCATATTATA TTGTATATAATATATATCATATTATATTGTATATAATATATATCATATTA TATTGTATATAATATATATCATATTATATTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	274	0.0037	-130	c.972 others(17): Show c.972+9540_972+9669del	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDCP1_chr3_45077277_45151378	45108758	TATATATA others(123): Show TATATATATATATGCATGTATACATATATATGCATGTATATATATATATG CATGTATACATATATATGCATGTATATATATATATGCATGTATACATATA TATGCATGTATATATATATATGCATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0015 a0006c0011t0015	a0006c0011t0015g0151 a0006c0011t0015g0151	1	384	0.0026	-130	c.102 others(19): Show c.1024+1585_1024+1714del	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDCP1_chr3_45077277_45151378	45108806	TGCATGTA others(123): Show TGCATGTATACATATATATGCATGTATATATATATATGCATGTATACATA TATATGCATGTATATATATATATGCATGTATACATATATATATATATGCA TGTATACATATATATATATATGCATGTATAC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0241 a0001c0001t0026g0241	1	384	0.0026	-130	c.102 others(19): Show c.1024+1537_1024+1666del	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDH12_chr5_21745673_22858344	21833134	AAATATAT others(123): Show AAATATATATTATATAACATATAATATATATTATATTATAAATATATATT ATATAACATATAATATATATATTATAATATATATTATATGTTATATAACA TATAATATATATTATATATTATATAACATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp1 HG01361.hp2 others(18): Show HG00558.hp1 HG01070.hp1 HG01361.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02896.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp2 HG03669.hp2 NA18906.hp1 NA18906.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0004 a0001c0002t0007 a0001c0002t0015 a0001c0002t0020 a0001c0002t0024 a0001c0002t0025 a0002c0003t0001 a0002c0003t0005 a0002c0006t0004	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0047 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0002g0021 a0001c0001t0009g0024 a0001c0001t0010g0012 a0001c0001t0014g0055 a0001c0001t0016g0045 a0001c0001t0017g0025 a0001c0001t0018g0010 a0001c0001t0019g0014 a0001c0002t0004g0008 a0001c0002t0007g0001 a0001c0002t0015g0032 a0001c0002t0020g0057 a0001c0002t0024g0007 a0001c0002t0025g0019 a0002c0003t0001g0026 a0002c0003t0001g0058 a0002c0003t0005g0060 a0002c0006t0004g0018	21	60	0.3500	-130	c.814 others(17): Show c.814+8897_814+9026del	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	8/14			chr5	TogoVar
CDH23_chr10_71391920_71820947	71760119	GTGTATAT others(123): Show GTGTATATATATGTATATACATATATATGTGTGTATATATATGTATATAC ATATATATGTGTGTATATATATGTATATACATATATATGTGTGTATATAT GTGTATATATATGTATATACATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02818.hp1 others(5): Show HG02258.hp1 HG02572.hp1 HG02818.hp1 HG02818.hp2 HG03041.hp1 HG03139.hp2 HG03516.hp1 NA21309.hp1	a0001 a0033 a0035 others(5): Show a0001 a0033 a0035 a0058 a0060 a0069 a0083 a0105	a0001c0063 a0033c0058 a0035c0020 others(5): Show a0001c0063 a0033c0058 a0035c0020 a0058c0091 a0060c0094 a0069c0149 a0083c0052 a0105c0163	a0001c0063t0001 a0033c0058t0001 a0035c0020t0028 others(5): Show a0001c0063t0001 a0033c0058t0001 a0035c0020t0028 a0058c0091t0011 a0060c0094t0001 a0069c0149t0008 a0083c0052t0021 a0105c0163t0018	a0001c0063t0001g0151 a0033c0058t0001g0153 a0035c0020t0028g0184 others(5): Show a0001c0063t0001g0151 a0033c0058t0001g0153 a0035c0020t0028g0184 a0058c0091t0011g0012 a0060c0094t0001g0161 a0069c0149t0008g0005 a0083c0052t0021g0041 a0105c0163t0018g0011	8	196	0.0408	-130	c.484 others(21): Show c.4846-17531_4846-17402del	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	38/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH4_chr20_61247261_61945617	61944116	CTGCACCG others(123): Show CTGCACCGTGGCCGCCCCTTCTCACTGACGATGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCCCCTT CTCACTGACGATGAGGAGCATTGCGACTGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01433.hp1 HG02055.hp2 others(1): Show HG01358.hp2 HG01433.hp1 HG02055.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0002 a0002c0004 a0001c0011 a0002c0002 a0002c0004	a0001c0011t0008 a0002c0002t0013 a0002c0004t0013 a0001c0011t0008 a0002c0002t0013 a0002c0004t0013	a0001c0011t0008g0003 a0001c0011t0008g0101 a0002c0002t0013g0017 others(1): Show a0001c0011t0008g0003 a0001c0011t0008g0101 a0002c0002t0013g0017 a0002c0004t0013g0021	4	106	0.0377	-130	c.71 others(11): Show c.7174_*7303del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3500		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944134	TTCTCACT others(123): Show TTCTCACTGACGATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAG CACTGCGACCGTCTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAG CATTGCGACTGTATGCACCGTGGCCGCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01109.hp1 others(15): Show HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01255.hp1 HG01346.hp1 HG01978.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02647.hp1 HG02723.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03704.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0013 a0001c0020 a0001c0021 a0002c0005 a0002c0014 a0002c0016 a0002c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0048 a0001c0001t0050 a0001c0003t0001 a0001c0003t0036 a0001c0003t0037 a0001c0006t0006 a0001c0006t0029 a0001c0007t0010 a0001c0013t0006 a0001c0020t0006 a0001c0021t0008 a0002c0005t0015 a0002c0014t0003 a0002c0016t0004 a0002c0026t0015	a0001c0001t0001g0012 a0001c0001t0002g0059 a0001c0001t0011g0005 others(15): Show a0001c0001t0001g0012 a0001c0001t0002g0059 a0001c0001t0011g0005 a0001c0001t0048g0085 a0001c0001t0050g0063 a0001c0003t0001g0020 a0001c0003t0036g0043 a0001c0003t0037g0023 a0001c0006t0006g0029 a0001c0006t0029g0035 a0001c0007t0010g0037 a0001c0013t0006g0036 a0001c0020t0006g0094 a0001c0021t0008g0047 a0002c0005t0015g0069 a0002c0014t0003g0090 a0002c0016t0004g0042 a0002c0026t0015g0079	18	106	0.1698	-130	c.71 others(11): Show c.7192_*7321del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3518		chr20	TogoVar
CDYL_chr6_4771404_4960544	4895300	TATATATG others(123): Show TATATATGTGCATATATGCATGTATGTATATATGTGCATATATGCATGTA TGTATATATGTGCATATATGCATGTATGTATATATGTGCATATATGCATG TATACATGTATACGTATATATGCATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp1 HG02630.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0239 a0001c0002t0002g0043 a0001c0001t0003g0239 a0001c0002t0002g0043	2	250	0.0080	-130	c.691 others(17): Show c.691+2924_691+3053del	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar

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