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
DLGAP2_chr8_732628_1713476	1643684	TCCTCACC others(117): Show TCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCT CGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCAC CTGTGTCACCCTCGACCCCGCCGGC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0022 a0002c0001t0003g0022	1	40	0.0250	-124	c.181 others(21): Show c.1810+10824_1810+10947del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1711350	ATAATGAA others(117): Show ATAATGAACACCTAACACCCTACTTCATCCAACTACAGCAGAACACACAT GCTTCCCAAGCTACACTCTGGGCTATGAAACACACGCTAACAGATGTAAA AGAAGCACCACTGGTTACCTAGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-124	c.99 others(12): Show c.9945_*10068del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding		2875		chr8	TogoVar
DMD_chrX_31114222_33216549	32452375	GGGAAAGG others(117): Show GGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01243.hp1 HG01255.hp1 others(12): Show HG00673.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01433.hp1 HG02056.hp1 HG02602.hp1 HG02738.hp1 NA18747.hp1 NA18940.hp1 NA18959.hp1 NA18977.hp1 NA18984.hp1 NA19005.hp1 NA19062.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0017 a0033	a0001c0001 a0001c0002 a0002c0005 others(8): Show a0001c0001 a0001c0002 a0002c0005 a0002c0012 a0003c0003 a0004c0004 a0005c0007 a0006c0006 a0010c0013 a0017c0038 a0033c0047	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0002c0005t0001 a0002c0012t0002 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0005c0007t0007 a0006c0006t0001 a0010c0013t0001 a0017c0038t0001 a0033c0047t0005	a0001c0001t0001g0090 a0001c0001t0002g0024 a0001c0002t0001g0025 others(12): Show a0001c0001t0001g0090 a0001c0001t0002g0024 a0001c0002t0001g0025 a0001c0002t0001g0115 a0001c0002t0003g0113 a0002c0005t0001g0022 a0002c0012t0002g0122 a0003c0003t0001g0067 a0004c0004t0001g0041 a0004c0004t0002g0086 a0005c0007t0007g0063 a0006c0006t0001g0047 a0010c0013t0001g0017 a0017c0038t0001g0053 a0033c0047t0005g0081	15	126	0.1191	-124	c.360 others(19): Show c.3603+2163_3603+2286del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DNAH9_chr17_11593470_11974748	11694654	CTCGCTTT others(117): Show CTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCT CTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0140 a0003c0140	a0003c0140t0001 a0003c0140t0001	a0003c0140t0001g0051 a0003c0140t0001g0051	1	178	0.0056	-124	c.487 others(17): Show c.4872+210_4872+333del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DOC2B_chr17_137789_186650	140897	CTGGTGAG others(117): Show CTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGAC ATAGGGGGGCCTTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG03098.hp2 others(1): Show HG02258.hp1 HG02559.hp1 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0106 a0001c0005t0007g0112 a0001c0005t0007g0113 others(1): Show a0001c0005t0007g0106 a0001c0005t0007g0112 a0001c0005t0007g0113 a0001c0005t0007g0115	4	339	0.0118	-124	c.64 others(11): Show c.6420_*6543del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1891		chr17	TogoVar
DOCK8_chr9_209865_470255	469457	GAAGAAAG others(117): Show GAAGAAAGAAAGGGTATCAGTGGAACTGAGAGTGTATACAGTGGCGCCTG AAAGCGGGTAGAAGAAAGAAAGGGTATCAGTGGAACTGAGAGTGTATACA GTGGCGCCTGAAAGCGGGTAGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0009 a0009	a0009c0035 a0009c0035	a0009c0035t0015 a0009c0035t0015	a0009c0035t0015g0218 a0009c0035t0015g0218	1	256	0.0039	-124	c.52 others(11): Show c.5239_*5362del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding		4203		chr9	TogoVar
DPH7_chr9_137549444_137583925	137566633	CTCTGTCT others(117): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGT GAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp1 HG02148.hp1 others(2): Show HG01261.hp2 HG01361.hp1 HG02148.hp1 HG03195.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0078 a0001c0001t0001g0110 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0078 a0001c0001t0001g0110 a0001c0001t0001g0150 a0001c0001t0001g0176	5	340	0.0147	-124	c.641 others(17): Show c.641-1603_641-1480del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566693	CTCTGTCT others(117): Show CTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGT GAGGAAGCTCCCCGGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	340	0.0029	-124	c.641 others(17): Show c.641-1663_641-1540del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378255	GCTGGGAT others(117): Show GCTGGGATGCTGTGTTGTGTGAATGACCCTCGGTGTCATGGAGGAAGGAA CAGGCGAGCGTTCCTGGGATGCTGTGTTGTGTGAATGACCCTTGGTGTCA TGGAGGAAGGAACAGGCGAGCGCTC	G G	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0342 a0002c0002t0001g0342	1	384	0.0026	-124	c.215 others(17): Show c.2155-404_2155-281del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378285	CGGTGTCA others(117): Show CGGTGTCATGGAGGAAGGAACAGGCGAGCGTTCCTGGGATGCTGTGTTGT GTGAATGACCCTTGGTGTCATGGAGGAAGGAACAGGCGAGCGCTCCTGGG ATGCTGTGTTGTGTGAATGACCCTG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0239 a0010c0019t0001g0239	1	384	0.0026	-124	c.215 others(17): Show c.2155-385_2155-262del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
ENOSF1_chr18_665318_717630	667207	GGTGATGG others(117): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGG TGATGGAGATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGA TGGTGATGGAGATGGTGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0320 a0001c0006t0004g0320	1	418	0.0024	-124	c.69 others(11): Show c.6974_*7097del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3110		chr18	TogoVar
ERC1_chr12_986223_1500931	1090708	TATTATTA others(117): Show TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTG TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0092 a0001c0003t0092	a0001c0003t0092g0004 a0001c0003t0092g0004	1	162	0.0062	-124	c.108 others(19): Show c.1086+7138_1086+7261del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXOC6B_chr2_72170984_72831033	72401514	TACATATA others(117): Show TACATATATACATATATATATATATATATATGTGTATATATATATATATA TACATATATATATATATACATATATATATATATATATATGTGTATATATA TATATATACATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	104	0.0096	-124	c.198 others(21): Show c.1981-21768_1981-21645del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72401543	ATGTGTAT others(117): Show ATGTGTATATATATATATATATACATATATATATATATACATATATATAT ATATATATATGTGTATATATATATATATACATATATATATATATACATAT ATACATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	104	0.0096	-124	c.198 others(21): Show c.1981-21797_1981-21674del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
FAM78B_chr1_166064299_166172001	166077849	TAATATAT others(117): Show TAATATATATAATTTATATATATAATTATATATATAATAAATATATATAA TTTATATATATAATTATATATATAATAAATATATAATAATATATATAATT TATATATATAATTATATATATAATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(146): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19083.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0015 a0001c0002t0022	a0001c0001t0001g0163 a0001c0001t0001g0251 a0001c0001t0002g0002 others(145): Show a0001c0001t0001g0163 a0001c0001t0001g0251 a0001c0001t0002g0002 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0118 a0001c0001t0002g0128 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0207 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0281 a0001c0001t0003g0195 a0001c0001t0006g0100 a0001c0001t0006g0103 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0180 a0001c0001t0006g0294 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0032 a0001c0001t0009g0036 a0001c0001t0009g0296 a0001c0001t0009g0297 a0001c0001t0019g0238 a0001c0001t0021g0200 a0001c0001t0023g0298 a0001c0001t0024g0315 a0001c0001t0025g0316 a0001c0002t0001g0046 a0001c0002t0001g0213 a0001c0002t0003g0034 a0001c0002t0003g0063 a0001c0002t0003g0074 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0137 a0001c0002t0003g0155 a0001c0002t0003g0175 a0001c0002t0003g0185 a0001c0002t0003g0187 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0201 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0230 a0001c0002t0003g0239 a0001c0002t0003g0249 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0279 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0005g0299 a0001c0002t0005g0300 a0001c0002t0005g0301 a0001c0002t0005g0302 a0001c0002t0005g0303 a0001c0002t0005g0304 a0001c0002t0005g0305 a0001c0002t0005g0306 a0001c0002t0005g0307 a0001c0002t0005g0308 a0001c0002t0005g0309 a0001c0002t0005g0310 a0001c0002t0005g0311 a0001c0002t0005g0312 a0001c0002t0005g0313 a0001c0002t0005g0314 a0001c0002t0010g0160 a0001c0002t0010g0161 a0001c0002t0010g0202 a0001c0002t0015g0030 a0001c0002t0022g0099	149	318	0.4686	-124	c.264 others(17): Show c.264-7210_264-7087del	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FMN2_chr1_240086883_240480187	240406030	GCAGCGTC others(117): Show GCAGCGTCAGGAGTCGGGGAAGCGAAGGGAATCAGCCTCAGGAGTGGGGG GAGCGAAGGGAATCAGCCTCGGGAGTGGGGGAAGCGAAGGGAATCAGCCT CGGGAGTGGGGGGAGCGAAGGGAAT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02280.hp1 HG02647.hp2 others(1): Show HG01261.hp1 HG02280.hp1 HG02647.hp2 HG03516.hp1	a0001 a0038 a0049 others(1): Show a0001 a0038 a0049 a0053	a0001c0099 a0038c0062 a0049c0063 others(1): Show a0001c0099 a0038c0062 a0049c0063 a0053c0057	a0001c0099t0001 a0038c0062t0009 a0049c0063t0009 others(1): Show a0001c0099t0001 a0038c0062t0009 a0049c0063t0009 a0053c0057t0001	a0001c0099t0001g0163 a0038c0062t0009g0058 a0049c0063t0009g0059 others(1): Show a0001c0099t0001g0163 a0038c0062t0009g0058 a0049c0063t0009g0059 a0053c0057t0001g0142	4	174	0.0230	-124	c.491 others(21): Show c.4910+13473_4910+13596del	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALR1_chr18_77244848_77282900	77259060	GTGGTCAT others(117): Show GTGGTCATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGG TGGTCACAGTGGTGGTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTG ATGATGGTGGTGATGATGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp1 HG03540.hp1 others(1): Show HG02647.hp2 HG03486.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0098 a0001c0002t0031 a0001c0001t0098 a0001c0002t0031	a0001c0001t0098g0265 a0001c0002t0031g0016 a0001c0002t0031g0228 a0001c0001t0098g0265 a0001c0002t0031g0016 a0001c0002t0031g0228	4	366	0.0109	-124	c.732 others(17): Show c.732+2840_732+2963del	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259163	ATGGTGGT others(117): Show ATGGTGGTGATGATGGTGGTGATGATGGTGGTGATGATGGTGGTCATGGT GGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTG GTGTTGGTGTTGGTGGTGGTCATGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0170 a0001c0002t0022g0170	1	366	0.0027	-124	c.732 others(17): Show c.732+2945_732+3068del	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATA5_chr20_62458497_62480995	62476938	TTTCTTTC others(117): Show TTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTTTCTCGGAGCACACCGG GTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTTTTTCTTTCTTCCTTCC TTTCTTTCTTTCTTTCTTTCTTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0277 a0001c0004t0001g0277	1	382	0.0026	-124	c.-11 others(11): Show c.-1154_-1031del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		944		chr20	TogoVar
GDF2_chr10_47317454_47332588	47327791	TTGGGGTG others(117): Show TTGGGGTGAGTGATGTGTTTGCACACTGGGGTGAGTAATGTGTGTGCACA CTGGAGTGAGTGATGCAGTGTGTGCACACTGGGGTAATATGTGTGCACAC TGCAGTGAGTGATGTGTGTGCGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01261.hp2 HG00280.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	2	424	0.0047	-124	c.20 others(11): Show c.2008_*2131del	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		204		chr10	TogoVar
GJB3_chr1_34776214_34791364	34777729	ATTCACAA others(117): Show ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCC GCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCACCTCCGCCATCACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-124	c.-40 others(11): Show c.-4074_-3951del	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3484		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777778	CGCCATCA others(117): Show CGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCACCTCCGCCATCACACACGTTCACAACCACACATGCACACAGC CTCCCACACCACCCCAGCCATCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-124	c.-40 others(11): Show c.-4025_-3902del	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3435		chr1	TogoVar
GNG12_chr1_67696475_67838467	67710002	ATATATAT others(117): Show ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTATATATATAGTTATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	274	0.0037	-124	c.-26 others(17): Show c.-26-2414_-26-2291del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GPAA1_chr8_144077634_144091216	144089581	TATATATG others(117): Show TATATATGTATATACATATATATATATATATATACATATATATATATATA CATATATATATATATACATATATATATATATATATATACATATATATATG TATATACATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG00738.hp1 others(27): Show HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01123.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0002 a0002c0003 a0004c0006 others(1): Show a0001c0002 a0002c0003 a0004c0006 a0010c0007	a0001c0002t0002 a0002c0003t0002 a0004c0006t0002 others(1): Show a0001c0002t0002 a0002c0003t0002 a0004c0006t0002 a0010c0007t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0009 others(3): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0009 a0002c0003t0002g0003 a0004c0006t0002g0002 a0010c0007t0002g0002	30	338	0.0888	-124	c.34 others(11): Show c.3457_*3580del	GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding		3366		chr8	TogoVar
GRIK2_chr6_101388708_102075083	101761970	CCCTCCCT others(117): Show CCCTCCCTTCCTTTCCTTCCTTCCTCCCTTCTTTTCTTTTCTTCCTTTCT TTCCTTTGTTTGTTTCTTTTCCTTCCTTTCCTTCCTTCCCTTCCTTTCCT TTCCCCTCCCTTCCTTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02559.hp2 HG02615.hp1 others(3): Show HG01496.hp1 HG02559.hp2 HG02615.hp1 HG02895.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0006t0002	a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0002g0014 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0002g0014 a0001c0001t0004g0008 a0001c0002t0001g0002 a0001c0006t0002g0078	6	116	0.0517	-124	c.952 others(19): Show c.952-37647_952-37524del	GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
GYG2_chrX_2823930_2887818	2845069	ATATTTAT others(117): Show ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACGTGTGTATGTATATT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0006 a0006c0008t0006	a0006c0008t0006g0009 a0006c0008t0006g0009	1	316	0.0032	-124	c.149 others(17): Show c.149+1719_149+1842del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HCN1_chr5_45249948_45701380	45273118	ATGGGGAC others(117): Show ATGGGGACTTAGCGTATTAATTTTAATTCGGTAGAATTTTCCTGGTTTTC TTTATAGGGCGTTTATGAATGGCTAAGTAGTTATTTCACCTAGTTAAGAT GAAAACTATTGGTAATGCATCCTGT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	226	0.0044	-124	c.161 others(19): Show c.1619-5989_1619-5866del	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	6/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45375352	AATATTTT others(117): Show AATATTTTATGATATACAATATATATAATATAATATTTTATGATACATAT TATATATAAGATCATATTTTATGATACATATTATATATAAGATCATATTT TATGATACATATGATATATAAGATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG01071.hp1 others(29): Show HG00099.hp2 HG00558.hp1 HG01071.hp1 HG01081.hp1 HG01257.hp2 HG01361.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02056.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG03486.hp1 HG03579.hp1 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA18942.hp2 NA18994.hp2 NA19001.hp2 NA19003.hp1 NA19011.hp2 NA19057.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19088.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037	a0001c0001t0002g0091 a0001c0001t0002g0105 a0001c0001t0002g0106 others(29): Show a0001c0001t0002g0091 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0157 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0188 a0001c0001t0003g0215 a0001c0001t0005g0089 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0012g0064 a0001c0001t0012g0137 a0001c0001t0019g0114 a0001c0001t0033g0213 a0001c0001t0036g0186 a0001c0001t0037g0148	32	226	0.1416	-124	c.123 others(21): Show c.1230+21016_1230+21139del	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45375383	AATATTTT others(117): Show AATATTTTATGATACATATTATATATAAGATCATATTTTATGATACATAT TATATATAAGATCATATTTTATGATACATATGATATATAAGATCATATTT TATGATACATATTATATATAAGATC	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18962.hp2 NA18982.hp1 others(1): Show NA18959.hp2 NA18962.hp2 NA18982.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0036 others(1): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0054	4	226	0.0177	-124	c.123 others(21): Show c.1230+20985_1230+21108del	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45375648	ATTATATA others(117): Show ATTATATATAAGATCATATTTTATGATACATATTATATATAAGATCATAT TTTATGATACATATTATATATAATATCATATTTTATGATATATCTTATAT ATAATATCATATTTTATGATATATC	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19003.hp2 HG02738.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0058 a0001c0001t0013g0078 a0001c0001t0002g0058 a0001c0001t0013g0078	2	226	0.0089	-124	c.123 others(21): Show c.1230+20720_1230+20843del	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN2_chr19_584881_622159	604046	GCGGGGCT others(117): Show GCGGGGCTATAATGGTGCATGGGTGGGGCCAAGGCAGCAGGGGTGGGGCT ATGAGAGATCTGGGTGGGGTCAAGGCCCCAGGGGTGGGGCTATGGGAGAT CTGGGTGGGGTCAAGGCCCCAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01257.hp1 HG01258.hp1 others(2): Show HG01074.hp2 HG01257.hp1 HG01258.hp1 HG03710.hp1 HG03927.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0022 a0002c0035 others(1): Show a0001c0001 a0001c0022 a0002c0035 a0003c0048	a0001c0001t0001 a0001c0022t0001 a0002c0035t0005 others(1): Show a0001c0001t0001 a0001c0022t0001 a0002c0035t0005 a0003c0048t0001	a0001c0001t0001g0178 a0001c0022t0001g0242 a0002c0035t0005g0349 others(1): Show a0001c0001t0001g0178 a0001c0022t0001g0242 a0002c0035t0005g0349 a0003c0048t0001g0003	5	408	0.0123	-124	c.105 others(16): Show c.1056+80_1056+203del	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7			chr19	TogoVar
HDHD5_chr22_17132520_17164277	17146585	GCCATCGC others(117): Show GCCATCGCACACGCTCCACACCTGTGGCACACTCCTGTGAGCTTACAGGC CTTCGATCACACGTCATCGCACACGCCCCACACCTGTGACGCCCTCCTGT GAGCTTACCGGCCTTCAATCACACA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG02965.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	2	422	0.0047	-124	c.444 others(17): Show c.444-1592_444-1469del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
HDHD5_chr22_17132520_17164277	17146958	CCATCGCA others(117): Show CCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCA TTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTG AGCTTACCGGCCTTCGATCACACGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00639.hp2 others(31): Show HG00140.hp1 HG00280.hp2 HG00639.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01261.hp2 HG01516.hp1 HG01978.hp2 HG02280.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19086.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0001 a0002c0003t0003	a0001c0002t0001g0015 a0001c0002t0001g0168 a0002c0003t0001g0003 others(20): Show a0001c0002t0001g0015 a0001c0002t0001g0168 a0002c0003t0001g0003 a0002c0003t0001g0005 a0002c0003t0001g0013 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0248 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0266 a0002c0003t0001g0268 a0002c0003t0001g0271 a0002c0003t0001g0274 a0002c0003t0001g0276 a0002c0003t0003g0052	34	422	0.0806	-124	c.443 others(17): Show c.443+1366_443+1489del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
HDHD5_chr22_17132520_17164277	17147007	ATTCGATC others(117): Show ATTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGT GAGCTTACCGGCCTTCGATCACACGTCATCGCACACGCCCCACACCTGTG ACGCCCTCCTGTGAGCTTACCGGCC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03516.hp2 HG02717.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0077 a0002c0003t0001g0277 a0001c0002t0001g0077 a0002c0003t0001g0277	2	422	0.0047	-124	c.443 others(17): Show c.443+1317_443+1440del	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar
HIP1R_chr12_122830457_122867961	122853216	TTGTCAGG others(117): Show TTGTCAGGGGCAGGGGAGACGGGCCCTGGGGGTGTCAGGGGCAGGGGAGA CGGGCCCTGGGGGTGTCAGGGGCAGGGGAGACGGGCCCTGGGGGTGTCAG GGGCAGGGGAGACGGGCCCTGGGGG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG04228.hp2 HG02683.hp2 HG04228.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0019 a0002c0002 a0015c0019	a0002c0002t0001 a0015c0019t0001 a0002c0002t0001 a0015c0019t0001	a0002c0002t0001g0067 a0015c0019t0001g0066 a0002c0002t0001g0067 a0015c0019t0001g0066	2	348	0.0058	-124	c.578 others(15): Show c.578-622_578-499del	HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding	7/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
HIP1R_chr12_122830457_122867961	122853421	CGGGCCCT others(117): Show CGGGCCCTGGGGGTGTCAGGGGCAGGGGAGACGGGCCCTGGGGGTGTCAG GGGCAGGGGAGACGGGCCCTGGGGGTGTCAGGGGCAGGGGAGACGGGCCC TGGGGGTGTCAGGGGCAGGGGAGAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(109): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00544.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04204.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18953.hp2 NA18962.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18986.hp2 NA18998.hp1 NA18999.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(8): Show a0001 a0003 a0005 a0006 a0011 a0012 a0013 a0014 a0017 a0023 a0025	a0001c0001 a0003c0003 a0003c0034 others(9): Show a0001c0001 a0003c0003 a0003c0034 a0005c0006 a0006c0007 a0011c0025 a0012c0027 a0013c0032 a0014c0030 a0017c0028 a0023c0023 a0025c0029	a0001c0001t0001 a0001c0001t0010 a0003c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0010 a0003c0003t0001 a0003c0003t0002 a0003c0003t0006 a0003c0034t0006 a0005c0006t0001 a0006c0007t0001 a0011c0025t0001 a0012c0027t0001 a0013c0032t0001 a0014c0030t0001 a0017c0028t0001 a0023c0023t0001 a0025c0029t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0010g0212 a0001c0001t0010g0218 a0003c0003t0001g0080 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0093 a0003c0003t0006g0088 a0003c0003t0006g0091 a0003c0003t0006g0092 a0003c0034t0006g0087 a0005c0006t0001g0006 a0006c0007t0001g0003 a0006c0007t0001g0176 a0006c0007t0001g0179 a0011c0025t0001g0200 a0012c0027t0001g0223 a0013c0032t0001g0005 a0014c0030t0001g0004 a0017c0028t0001g0007 a0023c0023t0001g0010 a0025c0029t0001g0019	112	348	0.3218	-124	c.578 others(15): Show c.578-609_578-486del	HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding	7/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
HOOK2_chr19_12758003_12780552	12780428	TTCACTGC others(117): Show TTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCAGGTGTGGCTAATTTT TTGTATTTTTAGTAGAGACGAGGTT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	360	0.0028	-124	c.-51 others(11): Show c.-5103_-4980del	HOOK2	ENSG00000095066.12	transcript	ENST00000397668.8	protein_coding		4877		chr19	TogoVar
HSH2D_chr19_16138685_16163575	16153999	TGGGGCAT others(117): Show TGGGGCATCTTTCCTTAGAAGGCTCAGTGGGTGTGGCCTAGCTCCCAAGA AACTGCTGTGGGTGGGGCATCTTTCCTTATAGGACTCAGTGGGCCTGACC TAGCGCCCAAGAAACTGTTGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01099.hp2 others(8): Show HG00323.hp1 HG00639.hp2 HG01099.hp2 HG01496.hp2 HG02293.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03704.hp2 HG04115.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0087 a0001c0001t0001g0236 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0087 a0001c0001t0001g0236 a0001c0001t0001g0242	11	394	0.0279	-124	c.382 others(15): Show c.382-349_382-226del	HSH2D	ENSG00000196684.12	transcript	ENST00000613986.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
INPP5D_chr2_233055342_233212903	233143973	GGTGGTAG others(117): Show GGTGGTAGTGATGGTGATGGTGGAGGTGGTCATGATTATGGTGAGAGTGG TAGGGGTGGAGATGGTGGTGGTGATGGCGATGGTGGAGGTGGTCATGATC ATGGAAAATAATAGGTGTGGAGATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00738.hp1 others(9): Show HG00140.hp1 HG00639.hp2 HG00738.hp1 HG01261.hp1 HG01346.hp2 HG02723.hp2 HG02895.hp1 HG03041.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0021 others(1): Show a0001c0001 a0001c0005 a0001c0021 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0005t0002 a0001c0005t0007 a0001c0005t0021 a0001c0021t0001 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0119 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0119 a0001c0001t0006g0177 a0001c0001t0007g0198 a0001c0005t0002g0208 a0001c0005t0002g0310 a0001c0005t0007g0199 a0001c0005t0021g0242 a0001c0021t0001g0129 a0002c0002t0003g0224 a0002c0002t0004g0023	12	310	0.0387	-124	c.754 others(17): Show c.754-2153_754-2030del	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNMB2_chr3_178531436_178849429	178759906	CTATATAT others(117): Show CTATATATATATATATCCAAGAGGATATATCTATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATCTATATA	C C	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	232	0.0043	-124	c.-67 others(19): Show c.-67-47391_-67-47268del	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNV2_chr9_2712510_2735037	2722400	TTTATAAA others(117): Show TTTATAAATAAGTTATTTATAAATAGAAGTTATTTATAAATAAGTTATTT ATAAATAGAAGTTATTTATAAATAAGTTATTTATAAATAGAAGTTATTTA TAAATAAGTTATTTATAAATAAAAG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03516.hp1 HG02818.hp2 HG03516.hp1	a0002 a0011 a0002 a0011	a0002c0005 a0011c0023 a0002c0005 a0011c0023	a0002c0005t0006 a0011c0023t0004 a0002c0005t0006 a0011c0023t0004	a0002c0005t0006g0082 a0011c0023t0004g0151 a0002c0005t0006g0082 a0011c0023t0004g0151	2	442	0.0045	-124	c.135 others(19): Show c.1356+3310_1356+3433del	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDELR3_chr22_38463096_38488447	38487200	TCAGACCA others(117): Show TCAGACCAGCCTCAGCTAGGTTTGGTGGCTCACTCCTGTAATCTCAGCAC TTTGGGAGGCCAAGACAGGTGGATCACCAGAGGTCAGGAGTTCGAGACCA GCCAGGCCAACATGGTGAAACTCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01167.hp1 NA18993.hp1 others(1): Show HG01106.hp1 HG01167.hp1 NA18993.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0274 a0001c0001t0001g0287 a0001c0001t0001g0001 a0001c0001t0001g0274 a0001c0001t0001g0287	4	404	0.0099	-124	c.46 others(11): Show c.4665_*4788del	KDELR3	ENSG00000100196.11	transcript	ENST00000216014.9	protein_coding		3754		chr22	TogoVar
KIAA0232_chr4_6777727_6889164	6879793	GAACTCCC others(117): Show GAACTCCCTTCCCAACACACCCATCTGCAGTGCCCCCCCTCACCATCTGT ACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCC TCACCATCTGTACTGTGTCACTGCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01993.hp1 others(1): Show HG00639.hp1 HG00735.hp2 HG01993.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0208 a0001c0001t0003g0214 others(1): Show a0001c0001t0003g0135 a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0003g0306	4	362	0.0111	-124	c.400 others(17): Show c.4009-972_4009-849del	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIF4A_chrX_70285104_70425886	70373651	TATATATA others(117): Show TATATATACGTATATATATACATATATACGTGTATATATATACGTATATA TATACACATATACGTGTATATATATACGTATATATATACATATATACGTG TATATATATATATACGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18965.hp1 HG02071.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0161 a0001c0001t0001g0162	2	259	0.0077	-124	c.167 others(17): Show c.1675-498_1675-375del	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KNDC1_chr10_133155219_133231412	133222848	TGTGTGTG others(117): Show TGTGTGTGTGTGTGAGAGCCCATCCAGCCATGCTCTTCCCAGTGTGTGTG TGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAG AGCCCATCCAGGCATGCTCTTCCCA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02145.hp1 HG02818.hp2 others(14): Show HG00733.hp1 HG02145.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA20300.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0011 a0003c0034 a0006c0010 others(2): Show a0003c0011 a0003c0034 a0006c0010 a0006c0019 a0007c0009	a0003c0011t0001 a0003c0034t0011 a0006c0010t0001 others(3): Show a0003c0011t0001 a0003c0034t0011 a0006c0010t0001 a0006c0010t0026 a0006c0019t0005 a0007c0009t0001	a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 others(14): Show a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0034t0011g0313 a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 a0006c0010t0001g0048 a0006c0010t0001g0240 a0006c0010t0026g0017 a0006c0019t0005g0277 a0006c0019t0005g0278 a0007c0009t0001g0104	17	332	0.0512	-124	c.501 others(19): Show c.5019-1797_5019-1674del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KRT35_chr17_41471710_41486151	41477747	GCAAGAGT others(117): Show GCAAGAGTTGTGTAGGGAGGAAAAAGGCTAGAGGTCAGAGAAGGAGCAAG GAAGGAATCTTCCTTGGAGCTATAGCGGGCCTCCGTCTCTGCCAGGGTGG ATTCCAAAGCATCTCTCTGTGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0021 a0004c0005t0001g0021	1	448	0.0022	-124	c.100 others(16): Show c.1000-133_1000-10del	KRT35	ENSG00000197079.9	transcript	ENST00000246639.7	protein_coding	5/6			chr17	TogoVar
KRTAP5-1_chr11_1579342_1590283	1589521	TCTGCATT others(117): Show TCTGCATTTTTACATGGAGGTGGCTTGTTTCCTGCTCCTCCTGAGCATTC ATCAGTAGACAGCCTGCATTTTCACATGGAGGTGGCTTGTTTCCTGCTCC TCCCGAGCATTCATCAGTAGACAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	429	0.0023	-124	c.-43 others(11): Show c.-4396_-4273del	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		4239		chr11	TogoVar
LPAR2_chr19_19618655_19633220	19619372	GCTTTTCT others(117): Show GCTTTTCTCCACTGCAGAAATCAATTCCAGTCACCTTTCAAGGTCCAGCT GAAGAGTGACCTCGCTTGTTTATTCATCTTCGCAGATTACAGTTCTGGGC ATAGAAAATGCTACCACGTGGTTAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	418	0.0024	-124	c.47 others(11): Show c.4760_*4883del	LPAR2	ENSG00000064547.14	transcript	ENST00000407877.8	protein_coding		4282		chr19	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(117): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG02109.hp1 others(6): Show HG00733.hp2 HG01109.hp1 HG02109.hp1 HG02273.hp2 HG03239.hp2 NA18981.hp2 NA19074.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0005t0002	a0001c0001t0001g0215 a0001c0001t0002g0144 a0001c0001t0002g0157 others(6): Show a0001c0001t0001g0215 a0001c0001t0002g0144 a0001c0001t0002g0157 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0003g0026 a0001c0003t0003g0002 a0001c0005t0002g0158	9	238	0.0378	-124	c.179 others(19): Show c.1791+1313_1792-1405del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LRRK2_chr12_40219997_40374285	40247560	GTATATAA others(117): Show GTATATAAATATACATATTTATACACAGATGTATATAAATATACATATTT ATACACAGATGTATATAAATATACATATTTATACACAGATGTATATAAAT ATACAAATATAAATATATACATTTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00673.hp2 others(47): Show HG00323.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01361.hp2 HG01433.hp1 HG01993.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02300.hp2 HG02602.hp2 HG02683.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03209.hp2 HG03486.hp1 HG03834.hp1 HG03927.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp1 NA18950.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18978.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19077.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0009 a0012 a0020 a0021	a0001c0002 a0001c0003 a0001c0020 others(10): Show a0001c0002 a0001c0003 a0001c0020 a0001c0050 a0001c0061 a0003c0014 a0003c0017 a0003c0025 a0005c0022 a0009c0013 a0012c0027 a0020c0035 a0021c0028	a0001c0002t0003 a0001c0002t0007 a0001c0003t0002 others(15): Show a0001c0002t0003 a0001c0002t0007 a0001c0003t0002 a0001c0003t0003 a0001c0020t0002 a0001c0020t0005 a0001c0050t0003 a0001c0061t0016 a0003c0014t0001 a0003c0014t0010 a0003c0017t0001 a0003c0025t0001 a0005c0022t0003 a0009c0013t0001 a0012c0027t0001 a0020c0035t0002 a0020c0035t0003 a0021c0028t0005	a0001c0002t0003g0152 a0001c0002t0003g0185 a0001c0002t0007g0306 others(47): Show a0001c0002t0003g0152 a0001c0002t0003g0185 a0001c0002t0007g0306 a0001c0003t0002g0157 a0001c0003t0003g0137 a0001c0003t0003g0154 a0001c0003t0003g0156 a0001c0003t0003g0160 a0001c0003t0003g0165 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0174 a0001c0003t0003g0176 a0001c0003t0003g0177 a0001c0003t0003g0181 a0001c0003t0003g0182 a0001c0003t0003g0183 a0001c0003t0003g0184 a0001c0003t0003g0186 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0003g0279 a0001c0020t0002g0158 a0001c0020t0005g0147 a0001c0050t0003g0192 a0001c0061t0016g0175 a0003c0014t0001g0143 a0003c0014t0010g0164 a0003c0014t0010g0168 a0003c0014t0010g0173 a0003c0017t0001g0149 a0003c0025t0001g0141 a0003c0025t0001g0142 a0005c0022t0003g0155 a0005c0022t0003g0179 a0005c0022t0003g0180 a0009c0013t0001g0166 a0009c0013t0001g0167 a0009c0013t0001g0178 a0012c0027t0001g0145 a0012c0027t0001g0153 a0020c0035t0002g0188 a0020c0035t0003g0187 a0021c0028t0005g0148 a0021c0028t0005g0151	50	382	0.1309	-124	c.839 others(17): Show c.839-2221_839-2098del	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr12	TogoVar

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