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
PLEKHN1_chr1_961482_980865	977894	CCACTCCC others(82): Show CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCG GGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0049 a0001c0001t0012g0049	1	420	0.0024	-89	c.33 others(100): Show c.3320_*3408delCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC CACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAAC CGCCT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		2030		chr1	TogoVar
PNMA6E_chrX_153390639_153406350	153392069	ACACACCA others(82): Show ACACACCACACACTCACACACCATGCACACCACACACACCATGCACACCA CACACTCGCACACCATGCACTCACACACCACGCACACTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	344	0.0029	-89	c.47 others(100): Show c.4748_*4836delCGAGTGTGCGTGGTGTGTGAGTGCATGGTGTGCG AGTGTGTGGTGTGCATGGTGTGTGTGGTGTGCATGGTGTGTGAGTGTGTG GTGTG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		3569		chrX	TogoVar
PRDM15_chr21_41793225_41884344	41865073	CCACTCCC others(82): Show CCACTCCCCTGCTCACTCCTCACTCCCCAGCCCTCTCTGCCATGCCTGCT CACTCCTCAGTCCCCACTCCCCACTCCCCGGCTCACTCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(141): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01074.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0025 a0001c0027 a0001c0038 a0001c0040 a0001c0049 a0001c0054 a0001c0056 a0002c0007 a0002c0046 a0002c0050 a0004c0041 a0004c0042 a0009c0047 a0010c0051	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(45): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0002t0002 a0001c0002t0028 a0001c0002t0043 a0001c0003t0001 a0001c0004t0003 a0001c0005t0002 a0001c0005t0006 a0001c0005t0007 a0001c0005t0048 a0001c0006t0004 a0001c0006t0009 a0001c0006t0014 a0001c0006t0017 a0001c0008t0001 a0001c0008t0031 a0001c0009t0008 a0001c0013t0001 a0001c0014t0003 a0001c0017t0001 a0001c0019t0022 a0001c0020t0004 a0001c0020t0005 a0001c0020t0021 a0001c0021t0003 a0001c0025t0018 a0001c0027t0005 a0001c0027t0047 a0001c0038t0013 a0001c0040t0005 a0001c0049t0044 a0001c0054t0001 a0001c0056t0004 a0002c0007t0005 a0002c0007t0045 a0002c0046t0040 a0002c0050t0005 a0004c0041t0001 a0004c0042t0008 a0009c0047t0001 a0010c0051t0003	a0001c0001t0002g0134 a0001c0001t0002g0199 a0001c0001t0002g0213 others(138): Show a0001c0001t0002g0134 a0001c0001t0002g0199 a0001c0001t0002g0213 a0001c0001t0004g0004 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0182 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0212 a0001c0001t0004g0256 a0001c0001t0004g0388 a0001c0001t0006g0141 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0265 a0001c0001t0007g0127 a0001c0001t0009g0113 a0001c0001t0009g0172 a0001c0001t0009g0218 a0001c0001t0009g0245 a0001c0001t0010g0274 a0001c0001t0011g0253 a0001c0001t0011g0254 a0001c0001t0016g0171 a0001c0002t0002g0144 a0001c0002t0002g0185 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0028g0021 a0001c0002t0028g0023 a0001c0002t0043g0022 a0001c0003t0001g0002 a0001c0003t0001g0187 a0001c0003t0001g0255 a0001c0003t0001g0258 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0269 a0001c0003t0001g0272 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0004t0003g0010 a0001c0004t0003g0111 a0001c0004t0003g0132 a0001c0004t0003g0217 a0001c0004t0003g0234 a0001c0004t0003g0235 a0001c0004t0003g0236 a0001c0004t0003g0237 a0001c0004t0003g0241 a0001c0004t0003g0243 a0001c0004t0003g0244 a0001c0004t0003g0246 a0001c0004t0003g0248 a0001c0004t0003g0249 a0001c0004t0003g0252 a0001c0004t0003g0264 a0001c0004t0003g0266 a0001c0004t0003g0294 a0001c0005t0002g0145 a0001c0005t0002g0271 a0001c0005t0006g0142 a0001c0005t0007g0009 a0001c0005t0007g0137 a0001c0005t0007g0174 a0001c0005t0007g0277 a0001c0005t0007g0278 a0001c0005t0007g0279 a0001c0005t0007g0283 a0001c0005t0007g0390 a0001c0005t0007g0391 a0001c0005t0048g0397 a0001c0006t0004g0147 a0001c0006t0009g0250 a0001c0006t0014g0247 a0001c0006t0017g0131 a0001c0008t0001g0138 a0001c0008t0001g0146 a0001c0008t0001g0180 a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0240 a0001c0008t0031g0181 a0001c0009t0008g0221 a0001c0009t0008g0297 a0001c0013t0001g0025 a0001c0013t0001g0242 a0001c0013t0001g0251 a0001c0014t0003g0128 a0001c0017t0001g0270 a0001c0017t0001g0275 a0001c0017t0001g0276 a0001c0017t0001g0285 a0001c0019t0022g0075 a0001c0019t0022g0076 a0001c0020t0004g0359 a0001c0020t0005g0296 a0001c0020t0021g0238 a0001c0021t0003g0257 a0001c0021t0003g0259 a0001c0025t0018g0168 a0001c0027t0005g0222 a0001c0027t0047g0223 a0001c0038t0013g0215 a0001c0040t0005g0112 a0001c0049t0044g0233 a0001c0054t0001g0186 a0001c0056t0004g0205 a0002c0007t0005g0133 a0002c0007t0005g0135 a0002c0007t0005g0136 a0002c0007t0005g0139 a0002c0007t0005g0143 a0002c0007t0005g0206 a0002c0007t0005g0214 a0002c0007t0005g0232 a0002c0007t0005g0239 a0002c0007t0005g0260 a0002c0007t0045g0140 a0002c0046t0040g0129 a0002c0050t0005g0202 a0004c0041t0001g0167 a0004c0042t0008g0166 a0009c0047t0001g0201 a0010c0051t0003g0261	144	393	0.3664	-89	c.-9- others(104): Show c.-9-4790_-9-4702delAGGAGTGAGCCGGGGAGTGGGGAGTGGGGA CTGAGGAGTGAGCAGGCATGGCAGAGAGGGCTGGGGAGTGAGGAGTGAGC AGGGGAGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	1/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3325970	TCCTTGGC others(82): Show TCCTTGGCCATCCTCGACCATCCTTGGCCCCCCTTGGCCATCCTCGACCA TCCTTGGCCCTCCTTGGCCATCCTCGGCCCTCTTGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	207	0.0048	-89	c.439 others(108): Show c.439-59120_439-59032delCTTGGCCATCCTCGGCCCTCTTGGCC CCCCTTGGCCATCCTCGACCATCCTTGGCCCCCCTTGGCCATCCTCGACC ATCCTTGGCCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3326032	CTTGGCCA others(82): Show CTTGGCCATCCTCGGCCCTCTTGGCCCCCCTTGGCCATCCTCGACCATCC TTGGCCCCCCTTGGCCATCCTCGACCATCCTTGGCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0127 a0002c0003t0004g0127	1	208	0.0048	-89	c.439 others(108): Show c.439-59106_439-59018delGCCCTCTTGGCCCCCCTTGGCCATCC TCGACCATCCTTGGCCCCCCTTGGCCATCCTCGACCATCCTTGGCCCTCG TTGGCCATCCTCG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855385	ACACACAC others(82): Show ACACACACCATCCACACACCACCCTCCACATACACCATGCTCCACACACA CCGCCCTCCACACACACCATCCTCCACACACACCATGCTC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03688.hp2 HG03927.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 a0001c0001 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0007t0001 a0002c0004t0023 a0001c0001t0001 a0001c0007t0001 a0002c0004t0023	a0001c0001t0001g0082 a0001c0007t0001g0083 a0002c0004t0023g0087 a0001c0001t0001g0082 a0001c0007t0001g0083 a0002c0004t0023g0087	3	248	0.0121	-89	c.114 others(108): Show c.114+21033_114+21121delGAGCATGGTGTGTGTGGAGGATGGTG TGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTATGTGGAGGGTGGTGTG TGGATGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2122133	AGGGTCGT others(82): Show AGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGT TGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18947.hp2 NA18993.hp1 others(1): Show HG01358.hp1 NA18947.hp2 NA18993.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0202 a0001c0001t0002g0044	4	280	0.0143	-89	c.335 others(108): Show c.335-13127_335-13039delGGTCGTGGTGGTTAGGGTCGTGGTGG TTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGG GTCGTGGCGGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRMT7_chr16_68306019_68363584	68362605	GCCAGGTC others(82): Show GCCAGGTCTGTGAGTGCCTGGACGGATGCAAAAGGGGCACCCGGCGAGGC AGGGCCTGCAAACATGGGCTTCCACAAGGTTTTCATCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0112 a0001c0003t0002g0112	1	282	0.0035	-89	c.53 others(100): Show c.5382_*5470delCCAGGTCTGTGAGTGCCTGGACGGATGCAAAAGG GGCACCCGGCGAGGCAGGGCCTGCAAACATGGGCTTCCACAAGGTTTTCA TCAGC	PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding		4022		chr16	TogoVar
PSEN1_chr14_73131507_73228691	73184305	CCCCCCCA others(82): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0362 a0001c0001t0002g0362	1	376	0.0027	-89	c.481 others(106): Show c.481-2541_481-2453delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTCH1_chr9_95437980_95514266	95512679	CCGGGTTT others(82): Show CCGGGTTTGTTAACTTCAACTAACCACAAGGATTCCACAGATCTGAGATG CAGACTGGGGCAGCCAGACCTGCTAAGGTGTCCTCCGGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0121 a0002c0001t0001g0121	1	282	0.0035	-89	c.-44 others(100): Show c.-4407_-4319delTCCCGGAGGACACCTTAGCAGGTCTGGCTGCCCC AGTCTGCATCTCAGATCTGTGGAATCCTTGTGGTTAGTTGAAGTTAACAA ACCCG	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding		3414		chr9	TogoVar
PTGDR_chr14_52262698_52281724	52277819	TGCATGCT others(82): Show TGCATGCTAATATTTGAGAACCACTGCTCTACACAAAACAAAAAAAGAAA AGAAAAGAAAAATACCAAAAAAAGACAAGTAAATATGTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0062 a0001c0001t0017g0062	1	436	0.0023	-89	c.28 others(100): Show c.2856_*2944delGCATGCTAATATTTGAGAACCACTGCTCTACACA AAACAAAAAAAGAAAAGAAAAGAAAAATACCAAAAAAAGACAAGTAAATA TGTGA	PTGDR	ENSG00000168229.4	transcript	ENST00000306051.3	protein_coding		1096		chr14	TogoVar
PTK2B_chr8_27320552_27464386	27322795	TCCTCTTT others(82): Show TCCTCTTTCAACCCACGACCCCCTCCAATATCCCCTGGTCTCAATTGCCC TTGGCAGTCAAGCTTTCCAGGACTCATCAGCGCGTGCCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02630.hp1 others(15): Show HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG06807.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0002c0006 a0007c0032	a0001c0001t0003 a0001c0002t0001 a0001c0008t0003 others(3): Show a0001c0001t0003 a0001c0002t0001 a0001c0008t0003 a0001c0010t0003 a0002c0006t0001 a0007c0032t0003	a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0002t0001g0226 others(15): Show a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0002t0001g0226 a0001c0002t0001g0235 a0001c0002t0001g0295 a0001c0008t0003g0292 a0001c0008t0003g0296 a0001c0010t0003g0229 a0001c0010t0003g0230 a0001c0010t0003g0231 a0001c0010t0003g0232 a0001c0010t0003g0233 a0001c0010t0003g0285 a0001c0010t0003g0289 a0001c0010t0003g0297 a0002c0006t0001g0290 a0002c0006t0001g0291 a0007c0032t0003g0284	18	326	0.0552	-89	c.-29 others(100): Show c.-2923_-2835delCCTCTTTCAACCCACGACCCCCTCCAATATCCCC TGGTCTCAATTGCCCTTGGCAGTCAAGCTTTCCAGGACTCATCAGCGCGT GCCGC	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding		2756		chr8	TogoVar
PUM1_chr1_30926506_31070717	30972285	AGGGGAGG others(82): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0296 a0001c0002t0008g0296	1	327	0.0031	-89	c.150 others(108): Show c.1506+2277_1506+2365delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PXMP2_chr12_132682587_132709985	132694562	AGTGAGCG others(82): Show AGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGA GCTCCCTTAGCTAGTTAGAGAGCTCCCTTGCCAGTTAGTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0005t0005 a0001c0004t0002 a0001c0005t0005	a0001c0004t0002g0044 a0001c0005t0005g0076 a0001c0004t0002g0044 a0001c0005t0005g0076	2	348	0.0057	-89	c.237 others(106): Show c.237-1321_237-1233delGTGAGCGCCCTTGCCAGTTAGTTAGTGA GCTCCCTTAGCCAGTTAGTGAGCTCCCTTAGCTAGTTAGAGAGCTCCCTT GCCAGTTAGTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
RAB3IP_chr12_69733860_69828199	69759646	TGGGCGGG others(82): Show TGGGCGGGGGCTGAACCCCCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG02647.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0078 a0001c0001t0076 a0001c0001t0078	a0001c0001t0076g0033 a0001c0001t0078g0032 a0001c0001t0076g0033 a0001c0001t0078g0032	2	391	0.0051	-89	c.510 others(106): Show c.510+2997_510+3085delACCCCCACCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGCCGG GCGGGGGCTGA	RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB3IP_chr12_69733860_69828199	69759660	ACCCCCAC others(82): Show ACCCCCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGCTGACCCCCCA CCTCCCTCCCGGACGGGGCGGCTGCCGGGCGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0228 a0001c0001t0067g0228	1	400	0.0025	-89	c.510 others(106): Show c.510+3010_510+3098delGGACGGGGCGGCTGGCCGGGCAGGGGCT GACCCCCCACCTCCCTCCCGGACGGGGCGGCTGCCGGGCGGGGGCTGACC CCCCACCTCCC	RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBFOX3_chr17_79084345_79616051	79491053	AGAGGGGA others(82): Show AGAGGGGAGGGGAGGGGAGGGGAGGCGAGGGGAGGCGAGGGGAGGGGAGG GGAGGAGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	117	0.0085	-89	c.-31 others(108): Show c.-319-8544_-319-8456delCCTCCCCTCCCTTCCCCTCCCCTCCC CTCCCCTCTCCTCCCCTCCCCTCCCCTCGCCTCCCCTCGCCTCCCCTCCC CTCCCCTCCCCTC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RFX4_chr12_106578004_106767803	106718155	ATGCCCAA others(82): Show ATGCCCAACAGACCTTGGTTCAAACCTTGCTCTTACACAGCTCTTACACA GCATGGGGCTGGATGCCCAAAAGACCTTGATTCAAACCTT	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	294	0.0034	-89	c.113 others(108): Show c.1139-1804_1139-1716delTGCCCAACAGACCTTGGTTCAAACCT TGCTCTTACACAGCTCTTACACAGCATGGGGCTGGATGCCCAAAAGACCT TGATTCAAACCTT	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	11/17			chr12	TogoVar
RGPD4_chr2_107821892_107897544	107828218	GCGGCGGC others(82): Show GCGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCAT CATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0228 a0005c0005t0004g0228	1	339	0.0029	-89	c.72+ others(104): Show c.72+1134_72+1222delCGGCGGCGGCCTCGACCTGGCCCGGCGGCG GCCTCGATGGCTCAGGCATCATGGCTCCCGACGGGCGCTGCTCCCTGGCG CGCTCTGTT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22			chr2	TogoVar
RGPD8_chr2_112363369_112438645	112432885	TCCGCCTC others(82): Show TCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCTCGGGAGCCATGACC CCTGACCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0011 a0005c0020t0011	a0005c0020t0011g0065 a0005c0020t0011g0065	1	199	0.0050	-89	c.72+ others(102): Show c.72+408_72+496delCGGCCTCGACCCGGCCCGGCGGCGGCCTCGAT GGGTCAGGGGTCATGGCTCCCGAGGGCGCTGCTCCCTGGCGCGCTCTGTT GAGGCGG	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding	1/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3440598	TCCCAGCA others(82): Show TCCCAGCACCCACCATGCCTCCACATTCACCGTGCCCCCAGGGCCCACCA TGACCTCCCCCCCAACCCCCAACCCCCCATTCACCGTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01070.hp2 others(70): Show HG00621.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18966.hp1 NA18982.hp1 NA18990.hp1 NA18994.hp1 NA19000.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0016 a0019 a0021 a0022	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0021 a0001c0027 a0002c0011 a0002c0022 a0003c0017 a0003c0047 a0003c0048 a0004c0019 a0005c0051 a0005c0053 a0006c0015 a0007c0025 a0011c0043 a0016c0032 a0019c0042 a0021c0040 a0022c0034	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(25): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001 a0001c0013t0001 a0001c0014t0001 a0001c0021t0001 a0001c0027t0001 a0002c0011t0004 a0002c0022t0004 a0003c0017t0001 a0003c0047t0001 a0003c0048t0001 a0004c0019t0001 a0005c0051t0001 a0005c0053t0001 a0006c0015t0002 a0007c0025t0001 a0011c0043t0001 a0016c0032t0001 a0019c0042t0001 a0021c0040t0001 a0022c0034t0001	a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0058 others(69): Show a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0002t0001g0163 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0235 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0291 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0306 a0001c0003t0001g0308 a0001c0004t0001g0266 a0001c0005t0001g0108 a0001c0005t0001g0115 a0001c0005t0001g0125 a0001c0006t0001g0134 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0149 a0001c0006t0001g0161 a0001c0006t0001g0167 a0001c0006t0001g0177 a0001c0006t0001g0178 a0001c0006t0001g0179 a0001c0006t0001g0181 a0001c0006t0001g0182 a0001c0006t0001g0183 a0001c0006t0001g0184 a0001c0006t0001g0190 a0001c0006t0001g0193 a0001c0007t0001g0035 a0001c0009t0001g0196 a0001c0010t0001g0002 a0001c0010t0001g0171 a0001c0010t0001g0173 a0001c0010t0001g0176 a0001c0010t0001g0189 a0001c0010t0001g0198 a0001c0013t0001g0066 a0001c0014t0001g0283 a0001c0021t0001g0005 a0001c0021t0001g0023 a0001c0027t0001g0131 a0002c0011t0004g0221 a0002c0022t0004g0110 a0003c0017t0001g0251 a0003c0017t0001g0254 a0003c0017t0001g0255 a0003c0047t0001g0202 a0003c0048t0001g0258 a0004c0019t0001g0007 a0005c0051t0001g0152 a0005c0053t0001g0139 a0006c0015t0002g0095 a0007c0025t0001g0279 a0011c0043t0001g0162 a0016c0032t0001g0195 a0019c0042t0001g0194 a0021c0040t0001g0174 a0022c0034t0001g0036	73	308	0.2370	-89	c.91 others(99): Show c.915_*1003delCCCAGCACCCACCATGCCTCCACATTCACCGTGCC CCCAGGGCCCACCATGACCTCCCCCCCAACCCCCAACCCCCCATTCACCG TGCC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding		686		chr4	TogoVar
RNF223_chr1_1065967_1079306	1077858	GGGGACTC others(82): Show GGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGG CTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	1	321	0.0031	-89	c.-39 others(100): Show c.-3941_-3853delGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAG CCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCAACGGA GTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3553		chr1	TogoVar
RPL14_chr3_40452339_40473587	40464822	TCATTGGT others(82): Show TCATTGGTTGTGAGGGAACATGAGGCAGGGTAAAGTTTATCTAGGTAAAA TGAGTTAGTTTTCATGTAGACTATCTGGGTGTATATGCAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0001 a0001c0001t0070g0001	1	416	0.0024	-89	c.25 others(100): Show c.2591_*2679delCATTGGTTGTGAGGGAACATGAGGCAGGGTAAAG TTTATCTAGGTAAAATGAGTTAGTTTTCATGTAGACTATCTGGGTGTATA TGCAA	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	2591		chr3	TogoVar
RPL37_chr5_40820262_40840222	40821161	GTATTATA others(82): Show GTATTATAAATAATACAGCAACAAATTTCCATGGGTAAAACATTGTGTCT TTGTGATAGTGTACATGTTTAGCATTTGGGAATGCTGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	-89	c.11 others(102): Show c.11254_*11342delGACCAGCATTCCCAAATGCTAAACATGTACAC TATCACAAAGACACAATGTTTTACCCATGGAAATTTGTTGCTGTATTATT TATAATA	RPL37	ENSG00000145592.14	transcript	ENST00000274242.10	protein_coding		4100		chr5	TogoVar
RTL1_chr14_100874753_100908722	100875508	TCCTCACC others(82): Show TCCTCACCTCTGCCCTTCCCACTTACATCCCATCTCCCCTTCCTCACCCC TCCTTCCCCATGCACCCCTTCTTCCTGTAGGAGGGAGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0258 a0002c0002t0003g0258	1	428	0.0023	-89	c.51 others(100): Show c.5115_*5203delGTGCTCCCTCCTACAGGAAGAAGGGGTGCATGGG GAAGGAGGGGTGAGGAAGGGGAGATGGGATGTAAGTGGGAAGGGCAGAGG TGAGG	RTL1	ENSG00000254656.3	transcript	ENST00000649591.1	protein_coding		4244		chr14	TogoVar
RUNDC3B_chr7_87623398_87837296	87626347	ATATATAT others(82): Show ATATATATGTGTCATATATATGTGTCATATGTATGTGTCATATATATGTG TCATATGTATGTGTCATATATATGTGTCATATGTATGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA19082.hp2 NA18970.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0150 a0001c0001t0015g0151 a0001c0001t0015g0150 a0001c0001t0015g0151	2	198	0.0101	-89	c.-24 others(100): Show c.-2476_-2388delTATATATGTGTCATATATATGTGTCATATGTATG TGTCATATATATGTGTCATATGTATGTGTCATATATATGTGTCATATGTA TGTGT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2050		chr7	TogoVar
SAP130_chr2_127936222_128033059	127979499	AAGATAGA others(82): Show AAGATAGAGGAAACCTCGATAATAAAATGGCTTTTAAAGTCATATTAACT AATCACAATGTATGCATCTTATCAGAATACTCATTCAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18964.hp2 NA18967.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0005t0001 a0001c0005t0006 a0001c0009t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0099 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0009g0199 a0001c0001t0010g0086 a0001c0001t0014g0134 a0001c0005t0001g0254 a0001c0005t0001g0269 a0001c0005t0001g0298 a0001c0005t0001g0304 a0001c0005t0006g0008 a0001c0009t0001g0215 a0001c0013t0001g0270	229	348	0.6580	-89	c.195 others(108): Show c.1959-1499_1959-1411delATTTGAATGAGTATTCTGATAAGATG CATACATTGTGATTAGTTAATATGACTTTAAAAGCCATTTTATTATCGAG GTTTCCTCTATCT	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	14/20			chr2	TogoVar
SCGB2A2_chr11_62265158_62278160	62277923	TCTCGCTC others(82): Show TCTCGCTCTCCGTCTCCCTCTCGCTCTCCCTCTCCCCACGGTCTCCCTCT CATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	194	0.0052	-89	c.49 others(100): Show c.4929_*5017delCTCGCTCTCCGTCTCCCTCTCGCTCTCCCTCTCC CCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCAT CTCGG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4764		chr11	TogoVar
SCN7A_chr2_166398573_166499249	166414097	AATATATT others(82): Show AATATATTATATATAAATATATATAATATATTATATATATGTAAATATAT ATAAATATATATAATATATTATATATATGTAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02976.hp1 HG03471.hp2 others(1): Show HG01496.hp1 HG02976.hp1 HG03471.hp2 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0032 a0001c0001t0033 a0005c0005t0030 others(1): Show a0001c0001t0032 a0001c0001t0033 a0005c0005t0030 a0005c0005t0031	a0001c0001t0032g0213 a0001c0001t0033g0212 a0005c0005t0030g0042 others(1): Show a0001c0001t0032g0213 a0001c0001t0033g0212 a0005c0005t0030g0042 a0005c0005t0031g0043	4	392	0.0102	-89	c.341 others(107): Show c.3415-1065_3415-977delATATATATTTACATATATATAATATAT TATATATATTTATATATATTTACATATATATAATATATTATATATATTTA TATATAATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289770	TGTCTCTG others(82): Show TGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 NA19064.hp2 HG00544.hp1 HG00597.hp2 NA19064.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0010 a0002c0002 a0006c0010	a0002c0002t0001 a0006c0010t0007 a0002c0002t0001 a0006c0010t0007	a0002c0002t0001g0058 a0002c0002t0001g0090 a0006c0010t0007g0271 a0002c0002t0001g0058 a0002c0002t0001g0090 a0006c0010t0007g0271	3	285	0.0105	-89	c.166 others(106): Show c.1663-484_1663-396delCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTC TGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC24A_chr5_134643785_134732909	134708537	GTTGGCTC others(82): Show GTTGGCTCAGTTCTCCAGACCATGCTTTTAGCTGCTGTGTTTTGTCTCAT TTGTGTATGTAGTAAATTGGAGAGATACTTGGTATAGTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG01243.hp1 HG02257.hp1	a0004 a0004	a0004c0005 a0004c0014 a0004c0005 a0004c0014	a0004c0005t0001 a0004c0014t0001 a0004c0005t0001 a0004c0014t0001	a0004c0005t0001g0018 a0004c0014t0001g0019 a0004c0005t0001g0018 a0004c0014t0001g0019	2	316	0.0063	-89	c.255 others(105): Show c.2552-173_2552-85delGGCTCAGTTCTCCAGACCATGCTTTTAGC TGCTGTGTTTTGTCTCATTTGTGTATGTAGTAAATTGGAGAGATACTTGG TATAGTTTTT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEMA3A_chr7_83950777_84199789	84086474	TTATTATA others(82): Show TTATTATATTATATTTACATATAATATATTATTATATTATATTTATATAT AATATATTATTATATTATATTTACATATAATATATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00621.hp2 others(84): Show HG00099.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03453.hp2 HG03490.hp1 HG03579.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp1 NA19001.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp2 NA19076.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0002t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0003t0020 a0001c0003t0033 a0001c0004t0005 a0001c0004t0008 a0001c0004t0016 a0001c0005t0001 a0001c0005t0009 a0001c0012t0016 a0001c0016t0002	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0039 others(84): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0143 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0003g0023 a0001c0001t0003g0043 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0060 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0261 a0001c0001t0004g0059 a0001c0001t0007g0092 a0001c0001t0007g0111 a0001c0001t0007g0134 a0001c0001t0007g0158 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0192 a0001c0001t0007g0231 a0001c0001t0007g0236 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0011g0107 a0001c0001t0011g0195 a0001c0001t0017g0007 a0001c0001t0017g0263 a0001c0001t0018g0003 a0001c0001t0018g0121 a0001c0001t0027g0272 a0001c0001t0029g0025 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0172 a0001c0002t0002g0268 a0001c0003t0005g0252 a0001c0003t0006g0072 a0001c0003t0012g0174 a0001c0003t0012g0190 a0001c0003t0012g0232 a0001c0003t0020g0168 a0001c0003t0020g0170 a0001c0003t0033g0238 a0001c0004t0005g0048 a0001c0004t0008g0157 a0001c0004t0016g0009 a0001c0005t0001g0079 a0001c0005t0009g0249 a0001c0012t0016g0207 a0001c0016t0002g0136	87	273	0.3187	-89	c.453 others(108): Show c.453+23907_453+23995delTAATAATATATTATATGTAAATATAA TATAATAATATATTATATATAAATATAATATAATAATATATTATATGTAA ATATAATATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55829690	ACAGCTCT others(82): Show ACAGCTCTTCAAGTCTGCAACAAAAAATGGCCTCTTCCAGAGAATTGTTT GAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATAGCGC	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18984.hp1 NA18986.hp1 others(1): Show NA18970.hp2 NA18984.hp1 NA18986.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259	4	388	0.0103	-89	c.720 others(106): Show c.720+4646_720+4734delGCGCTATCTCGGCTCACTGCAACCTCTG CCTCCCAGGTTCAAACAATTCTCTGGAAGAGGCCATTTTTTGTTGCAGAC TTGAAGAGCTG	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SH3BP4_chr2_234947017_235060714	235038288	TAATATAT others(82): Show TAATATATATATTATATATATATATTATATATTATATATATATTATATAT AGTATATATATTTTATATATATATATATAATATATATACA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG03195.hp1 HG02622.hp2 HG02965.hp1 HG03195.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0008 a0002c0001t0001g0045 a0002c0001t0001g0333 a0002c0001t0001g0008 a0002c0001t0001g0045 a0002c0001t0001g0333	3	341	0.0088	-89	c.119 others(106): Show c.119-2599_119-2511delAATATATATATTATATATATATATTATA TATTATATATATATTATATATAGTATATATATTTTATATATATATATATA ATATATATACA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5			chr2	TogoVar
SIM2_chr21_36694115_36754917	36701360	TTGTGCTG others(82): Show TTGTGCTGGCCGCTGGGTCTGGAGCTGCGCTTCTCGGCCCCTCCCCGGTG GAGCGCAGAGGGCTGGTCTGCAAGCGCGGCCTCCAGCCCC	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	408	0.0025	-89	c.175 others(106): Show c.175+1440_175+1528delTGTGCTGGCCGCTGGGTCTGGAGCTGCG CTTCTCGGCCCCTCCCCGGTGGAGCGCAGAGGGCTGGTCTGCAAGCGCGG CCTCCAGCCCC	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	1/10			chr21	TogoVar
SLC12A7_chr5_1045384_1117063	1096714	AGGAAGGA others(82): Show AGGAAGGAAAGGAGGGAGGGGGGAAGGGAGGGAAGGAAGGAGGGAGGAAG GAAAGGAGGGAGGGGGGGAGGGAGGGAAGGAAGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18984.hp2 NA19074.hp2 others(1): Show HG03710.hp1 NA18984.hp2 NA19074.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0023 a0002c0011t0002 a0001c0001t0023 a0002c0011t0002	a0001c0001t0023g0033 a0002c0011t0002g0030 a0002c0011t0002g0031 others(1): Show a0001c0001t0023g0033 a0002c0011t0002g0030 a0002c0011t0002g0031 a0002c0011t0002g0034	4	118	0.0339	-89	c.125 others(106): Show c.125-2555_125-2467delCTCCCTCCTTCCTTCCCTCCCTCCCCCC CTCCCTCCTTTCCTTCCTCCCTCCTTCCTTCCCTCCCTTCCCCCCTCCCT CCTTTCCTTCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC26A3_chr7_107760469_107808223	107770153	CTTTTTTT others(82): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0012 others(9): Show a0001c0001 a0001c0002 a0001c0012 a0001c0022 a0002c0003 a0004c0006 a0005c0005 a0007c0019 a0008c0010 a0009c0023 a0010c0011 a0011c0013	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0001c0022t0001 a0002c0003t0001 a0004c0006t0001 a0005c0005t0001 a0007c0019t0001 a0008c0010t0001 a0009c0023t0001 a0010c0011t0001 a0011c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0035 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0306 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0328 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0352 a0001c0001t0001g0362 a0001c0001t0001g0368 a0001c0001t0001g0371 a0001c0001t0001g0374 a0001c0001t0001g0385 a0001c0002t0001g0001 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0079 a0001c0002t0001g0124 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0179 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0207 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0285 a0001c0002t0001g0304 a0001c0002t0001g0310 a0001c0002t0001g0314 a0001c0002t0001g0323 a0001c0002t0001g0331 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0356 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0012t0001g0256 a0001c0022t0001g0058 a0002c0003t0001g0003 a0002c0003t0001g0020 a0002c0003t0001g0336 a0004c0006t0001g0332 a0005c0005t0001g0014 a0005c0005t0001g0200 a0007c0019t0001g0322 a0008c0010t0001g0273 a0009c0023t0001g0148 a0010c0011t0001g0158 a0011c0013t0001g0334	137	143	0.9580	-89	c.206 others(108): Show c.2062+1812_2062+1900delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20			chr7	TogoVar
SLC35F3_chr1_233899676_234329511	234095360	TATATCCA others(82): Show TATATCCAAAAGCATGATTATAACAATGAACCATGAGGTTCTGGCTAAAT GATGAGGAAAGAACAAGCATGAAAGGGAACCAGCACATGC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02055.hp1 HG01258.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0091 a0001c0002t0002g0129 a0001c0001t0001g0091 a0001c0002t0002g0129	2	158	0.0127	-89	c.284 others(110): Show c.284-136055_284-135967delTATCCAAAAGCATGATTATAACAA TGAACCATGAGGTTCTGGCTAAATGATGAGGAAAGAACAAGCATGAAAGG GAACCAGCACATGCA	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A11_chr3_10811228_10945714	10813776	ATGTTGGC others(82): Show ATGTTGGCCTCCCATTAGGGCTTTTAAGCAAGGGAATGAACTAACCATCC TCCTCCTCCTCACAATAAAAACAATAGCTACTGGCCAGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0143 a0001c0006t0002g0143	1	360	0.0028	-89	c.-24 others(100): Show c.-2489_-2401delTGTTGGCCTCCCATTAGGGCTTTTAAGCAAGGGA ATGAACTAACCATCCTCCTCCTCCTCACAATAAAAACAATAGCTACTGGC CAGGT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding		2451		chr3	TogoVar
SLC6A3_chr5_1387794_1450440	1392473	GGACAGGT others(82): Show GGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGGGGACA GGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0147 a0001c0001t0023g0147	1	372	0.0027	-89	c.21 others(100): Show c.2173_*2261delGCCCTCCCCAGGCTCCCACGCAGGTGTGCTGGGT GTGACCTGTCCCCCCTCCCCAGGCTCCCACGCAGGTGTGCTGGGTGTGAC CTGTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding		320		chr5	TogoVar
SMIM10L1_chr12_11166194_11181016	11168274	AAGAAAGA others(82): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGGAAAGAAAGGAAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	394	0.0025	-89	c.-30 others(100): Show c.-3082_-2994delAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGGAAAG AAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2919		chr12	TogoVar
SNAPC1_chr14_61757420_61801428	61781416	CTCCAGCC others(82): Show CTCCAGCCTGGGTGACAAAGCAAGACTCCATCTCCAAAAAAAAAAAAAAA AAAAGGACAGAAAAAAGAATTGTTAATACCTGTATTGCAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0067 a0002c0002t0028g0067	1	354	0.0028	-89	c.826 others(104): Show c.826-830_826-742delTCCAGCCTGGGTGACAAAGCAAGACTCCAT CTCCAAAAAAAAAAAAAAAAAAAGGACAGAAAAAAGAATTGTTAATACCT GTATTGCAT	SNAPC1	ENSG00000023608.5	transcript	ENST00000216294.5	protein_coding	7/9			chr14	TogoVar
SNX18_chr5_54512759_54551586	54513777	TAATATAT others(82): Show TAATATATAAATATATATGATATATATAAATTTATATAATATATAAATAT ATAATATATAAATATATATGATATATATAAATTTATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG01884.hp2 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0014 a0001c0002t0006 a0001c0002t0014	a0001c0002t0006g0163 a0001c0002t0014g0162 a0001c0002t0006g0163 a0001c0002t0014g0162	2	388	0.0052	-89	c.-41 others(100): Show c.-4175_-4087delAATATATAAATATATATGATATATATAAATTTAT ATAATATATAAATATATAATATATAAATATATATGATATATATAAATTTA TATAA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3981		chr5	TogoVar
SNX9_chr6_157818246_157950077	157826657	ACAAAAGC others(82): Show ACAAAAGCTGCAGAGCATTTTAGTCTTGACCTTTATTGGAAGCCTCCAAA GGTTATATTTCGACCCAGCCAAAATATAACCTATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	300	0.0033	-89	c.12+ others(104): Show c.12+3212_12+3300delCAAAAGCTGCAGAGCATTTTAGTCTTGACC TTTATTGGAAGCCTCCAAAGGTTATATTTCGACCCAGCCAAAATATAACC TATTTATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SORCS2_chr4_7187538_7747827	7448918	CCCTCCCT others(82): Show CCCTCCCTCCCTCCCTCCCTCCCTCTTTTCCCTCTCTCCCTCCCTTCCTG TCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0037 a0001c0009t0037	a0001c0009t0037g0042 a0001c0009t0037g0042	1	167	0.0060	-89	c.548 others(108): Show c.548+52583_548+52671delCCCTCTTTTCCCTCTCTCCCTCCCTT CCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCC TCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX11_chr2_5687384_5706385	5705934	AGGAATTG others(82): Show AGGAATTGGGGAGGCTGGAGTGGAGGAGCAGGGGAGAAAGGGGTGGAGGA AAAGGGGAAGAAGGGGTGGAGGAGGAGGGGAGGCAGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0167 a0001c0001t0167	a0001c0001t0167g0000 a0001c0001t0167g0000	1	431	0.0023	-89	c.11 others(102): Show c.11888_*11976delGGAATTGGGGAGGCTGGAGTGGAGGAGCAGGG GAGAAAGGGGTGGAGGAAAAGGGGAAGAAGGGGTGGAGGAGGAGGGGAGG CAGGGGT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4550		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706169	ACTGGGGT others(82): Show ACTGGGGTAGAGGAACAGGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGG GTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19066.hp2 NA19067.hp1 others(1): Show NA19012.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0052 a0001c0001t0130 a0001c0001t0008 a0001c0001t0052 a0001c0001t0130	a0001c0001t0008g0000 a0001c0001t0052g0000 a0001c0001t0130g0000 a0001c0001t0008g0000 a0001c0001t0052g0000 a0001c0001t0130g0000	4	411	0.0097	-89	c.12 others(102): Show c.12123_*12211delCTGGGGTAGAGGAACAGGTAGGCTGGGGTGGA GGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGC AGGGAGG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4785		chr2	TogoVar
SSH2_chr17_29620938_29935228	29895496	TTATATAT others(82): Show TTATATATGAAATATATAAAATATATTTTATATATACATTTTATATATGA AATATATAAAATATATTTTATATATACATTTTATATATGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	229	0.0044	-89	c.63+ others(106): Show c.63+34353_63+34441delTCATATATAAAATGTATATATAAAATAT ATTTTATATATTTCATATATAAAATGTATATATAAAATATATTTTATATA TTTCATATATA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29895576	TTATATAT others(82): Show TTATATATGAAATATATAAAATATATTTTATATATACATTTTATATATGA AATATATAAAATATATTTTATATACACATTTTATATATGA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	225	0.0044	-89	c.63+ others(106): Show c.63+34273_63+34361delTCATATATAAAATGTGTATATAAAATAT ATTTTATATATTTCATATATAAAATGTATATATAAAATATATTTTATATA TTTCATATATA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29895616	TTATATAT others(82): Show TTATATATGAAATATATAAAATATATTTTATATACACATTTTATATATGA AATATATAAAATATATTTTATATACACATTTTATATATGA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	210	0.0048	-89	c.63+ others(106): Show c.63+34233_63+34321delTCATATATAAAATGTGTATATAAAATAT ATTTTATATATTTCATATATAAAATGTGTATATAAAATATATTTTATATA TTTCATATATA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar

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