Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HAP1_chr17_41717640_41739643	41733352	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02257.hp1 HG02559.hp1 others(6): Show HG00735.hp1 HG02257.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02922.hp1 HG03540.hp1 HG04228.hp1 NA19070.hp2	a0002 a0029 a0002 a0029	a0002c0002 a0029c0020 a0002c0002 a0029c0020	a0002c0002t0001 a0002c0002t0022 a0029c0020t0001 a0002c0002t0001 a0002c0002t0022 a0029c0020t0001	a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 others(6): Show a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0022g0037 a0029c0020t0001g0031	9	374	0.0241	8	c.470 others(23): Show c.470-562_470-555dupAAAAAAAA	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	1/10			chr17	TogoVar
HAP1_chr17_41717640_41739643	41737061	G G	GAGGAAGA others(1): Show GAGGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01192.hp1 homoSapiens_chm13v2.hp1 HG01099.hp2 HG01192.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0230 a0001c0001t0001g0014 a0001c0001t0001g0230	3	374	0.0080	8	c.-24 others(19): Show c.-2428_-2427insTTCTTCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2419		chr17	TogoVar
HAP1_chr17_41717640_41739643	41737061	G G	GAGGAAGG others(1): Show GAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01167.hp2 others(1): Show HG00099.hp1 HG00733.hp2 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0080 a0002c0002t0001g0098 others(1): Show a0002c0002t0001g0062 a0002c0002t0001g0080 a0002c0002t0001g0098 a0002c0002t0001g0099	4	374	0.0107	8	c.-24 others(19): Show c.-2428_-2427insTCCTTCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2419		chr17	TogoVar
HAP1_chr17_41717640_41739643	41737065	G G	GAGGAAGG others(1): Show GAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG01099.hp1 others(20): Show HG00438.hp1 HG00733.hp1 HG01099.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02698.hp1 HG02965.hp2 HG03130.hp1 NA18612.hp2 NA18979.hp1 NA19000.hp1 NA19064.hp1 NA19077.hp1 NA21309.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0015 a0023	a0002c0002 a0004c0004 a0005c0005 others(2): Show a0002c0002 a0004c0004 a0005c0005 a0015c0014 a0023c0019	a0002c0002t0001 a0002c0002t0017 a0002c0002t0020 others(6): Show a0002c0002t0001 a0002c0002t0017 a0002c0002t0020 a0004c0004t0002 a0005c0005t0001 a0005c0005t0005 a0005c0005t0024 a0015c0014t0001 a0023c0019t0001	a0002c0002t0001g0005 a0002c0002t0001g0022 a0002c0002t0001g0026 others(20): Show a0002c0002t0001g0005 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0032 a0002c0002t0001g0040 a0002c0002t0001g0044 a0002c0002t0001g0051 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0094 a0002c0002t0017g0061 a0002c0002t0020g0042 a0004c0004t0002g0164 a0005c0005t0001g0147 a0005c0005t0001g0162 a0005c0005t0001g0166 a0005c0005t0005g0129 a0005c0005t0024g0137 a0015c0014t0001g0050 a0023c0019t0001g0097	23	374	0.0615	8	c.-24 others(19): Show c.-2432_-2431insTCCTTCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2423		chr17	TogoVar
HAP1_chr17_41717640_41739643	41737068	G G	GGAGGAAG others(1): Show GGAGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00639.hp1 others(10): Show HG00438.hp2 HG00597.hp1 HG00639.hp1 HG01106.hp2 HG01515.hp1 HG02109.hp2 HG02273.hp2 HG02735.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18974.hp2 NA18975.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0035 a0039	a0001c0001 a0003c0003 a0007c0008 others(2): Show a0001c0001 a0003c0003 a0007c0008 a0035c0038 a0039c0035	a0001c0001t0001 a0003c0003t0001 a0007c0008t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0007c0008t0001 a0035c0038t0002 a0039c0035t0001	a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0218 others(10): Show a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0287 a0003c0003t0001g0003 a0003c0003t0001g0225 a0003c0003t0001g0290 a0003c0003t0001g0317 a0003c0003t0001g0324 a0003c0003t0001g0340 a0007c0008t0001g0310 a0035c0038t0002g0213 a0039c0035t0001g0349	13	374	0.0348	8	c.-24 others(19): Show c.-2435_-2434insTCTTCCTC	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2426		chr17	TogoVar
HAP1_chr17_41717640_41739643	41737379	T T	TTTTCTTT others(1): Show TTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(198): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0011 a0013 a0018 a0022 a0027 a0030 a0032 a0034 a0035 a0036 a0037 a0038 a0039 a0040	a0001c0001 a0001c0042 a0002c0002 others(20): Show a0001c0001 a0001c0042 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0007c0008 a0008c0007 a0009c0009 a0011c0011 a0013c0016 a0018c0018 a0022c0028 a0027c0022 a0030c0026 a0032c0033 a0034c0040 a0035c0038 a0036c0037 a0037c0036 a0038c0039 a0039c0035 a0040c0043	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(27): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0042t0001 a0002c0002t0001 a0002c0002t0022 a0003c0003t0001 a0003c0003t0018 a0003c0003t0021 a0005c0005t0005 a0006c0006t0004 a0006c0006t0012 a0007c0008t0001 a0008c0007t0002 a0009c0009t0003 a0011c0011t0027 a0013c0016t0013 a0018c0018t0001 a0022c0028t0016 a0027c0022t0001 a0030c0026t0025 a0032c0033t0001 a0034c0040t0001 a0035c0038t0002 a0036c0037t0001 a0037c0036t0001 a0038c0039t0001 a0039c0035t0001 a0040c0043t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0012 others(184): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0006g0323 a0001c0001t0007g0229 a0001c0001t0007g0278 a0001c0001t0007g0288 a0001c0001t0007g0316 a0001c0001t0007g0318 a0001c0001t0009g0189 a0001c0001t0009g0267 a0001c0001t0009g0296 a0001c0042t0001g0249 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0100 a0002c0002t0022g0037 a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0011 a0003c0003t0001g0173 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0185 a0003c0003t0001g0187 a0003c0003t0001g0190 a0003c0003t0001g0194 a0003c0003t0001g0200 a0003c0003t0001g0204 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0217 a0003c0003t0001g0220 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0228 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0247 a0003c0003t0001g0250 a0003c0003t0001g0260 a0003c0003t0001g0266 a0003c0003t0001g0269 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0280 a0003c0003t0001g0290 a0003c0003t0001g0293 a0003c0003t0001g0295 a0003c0003t0001g0298 a0003c0003t0001g0300 a0003c0003t0001g0303 a0003c0003t0001g0305 a0003c0003t0001g0306 a0003c0003t0001g0308 a0003c0003t0001g0313 a0003c0003t0001g0317 a0003c0003t0001g0320 a0003c0003t0001g0324 a0003c0003t0001g0330 a0003c0003t0001g0335 a0003c0003t0001g0340 a0003c0003t0018g0307 a0003c0003t0021g0205 a0005c0005t0005g0124 a0006c0006t0004g0108 a0006c0006t0004g0109 a0006c0006t0004g0110 a0006c0006t0012g0008 a0006c0006t0012g0116 a0007c0008t0001g0174 a0007c0008t0001g0227 a0007c0008t0001g0238 a0007c0008t0001g0256 a0007c0008t0001g0257 a0007c0008t0001g0310 a0007c0008t0001g0321 a0008c0007t0002g0241 a0008c0007t0002g0285 a0008c0007t0002g0292 a0008c0007t0002g0338 a0008c0007t0002g0339 a0009c0009t0003g0235 a0009c0009t0003g0236 a0009c0009t0003g0237 a0009c0009t0003g0325 a0009c0009t0003g0326 a0009c0009t0003g0327 a0011c0011t0027g0111 a0013c0016t0013g0009 a0013c0016t0013g0128 a0018c0018t0001g0198 a0018c0018t0001g0328 a0022c0028t0016g0113 a0027c0022t0001g0029 a0030c0026t0025g0030 a0032c0033t0001g0171 a0034c0040t0001g0172 a0035c0038t0002g0213 a0036c0037t0001g0193 a0037c0036t0001g0240 a0038c0039t0001g0283 a0039c0035t0001g0349 a0040c0043t0001g0199	201	374	0.5374	8	c.-27 others(19): Show c.-2746_-2745insGAAAGAAA	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2737		chr17	TogoVar
HAPLN1_chr5_83632805_83725855	83648395	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02129.hp2 HG03017.hp1 others(14): Show HG02071.hp1 HG02129.hp2 HG03017.hp1 HG03209.hp2 HG04204.hp2 NA18747.hp2 NA18906.hp2 NA18957.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18982.hp1 NA19063.hp2 NA19067.hp1 NA19072.hp2 NA19079.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0002t0002 a0001c0002t0011 a0001c0002t0037 a0002c0003t0005 a0004c0007t0001	a0001c0001t0001g0109 a0001c0001t0001g0131 a0001c0001t0001g0137 others(14): Show a0001c0001t0001g0109 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0204 a0001c0001t0001g0289 a0001c0001t0001g0310 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0007g0112 a0001c0001t0008g0277 a0001c0001t0010g0220 a0001c0001t0012g0359 a0001c0002t0002g0309 a0001c0002t0011g0260 a0001c0002t0037g0272 a0002c0003t0005g0242 a0004c0007t0001g0205	17	372	0.0457	8	c.473 others(25): Show c.473-3738_473-3731dupTATATATA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	3/4			chr5	TogoVar
HAPLN1_chr5_83632805_83725855	83678217	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18969.hp2 NA19006.hp1 HG00741.hp1 NA18969.hp2 NA19006.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0016 a0001c0002t0002g0091 a0001c0002t0002g0092	3	372	0.0081	8	c.-26 others(25): Show c.-26-4669_-26-4668insCACACACA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	1/4			chr5	TogoVar
HAPLN1_chr5_83632805_83725855	83678220	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03139.hp1 HG03491.hp1 HG02647.hp1 HG03139.hp1 HG03491.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0005 a0002c0003t0021 a0001c0001t0004 a0002c0003t0005 a0002c0003t0021	a0001c0001t0004g0301 a0002c0003t0005g0252 a0002c0003t0021g0274 a0001c0001t0004g0301 a0002c0003t0005g0252 a0002c0003t0021g0274	3	372	0.0081	8	c.-26 others(25): Show c.-26-4679_-26-4672dupACACACAC	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	1/4			chr5	TogoVar
HAPLN1_chr5_83632805_83725855	83721730	C C	CGCGCGCG others(1): Show CGCGCGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01346.hp2 others(18): Show HG00642.hp2 HG01167.hp1 HG01346.hp2 HG01496.hp1 HG02083.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03491.hp1 HG03669.hp1 NA18906.hp2 NA18955.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0002t0002 a0002c0003t0005 a0002c0003t0021	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0271 others(17): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0271 a0001c0001t0001g0323 a0001c0001t0003g0327 a0001c0001t0004g0264 a0001c0001t0004g0301 a0001c0001t0007g0127 a0001c0001t0008g0141 a0001c0001t0012g0359 a0001c0001t0014g0140 a0001c0001t0014g0142 a0001c0001t0018g0136 a0001c0001t0022g0026 a0001c0002t0002g0003 a0001c0002t0002g0306 a0002c0003t0005g0007 a0002c0003t0005g0252 a0002c0003t0021g0005 a0002c0003t0021g0006	21	372	0.0565	8	c.-96 others(17): Show c.-969_-968insCCGCGCGC	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding		876		chr5	TogoVar
HAPLN1_chr5_83632805_83725855	83721739	G G	GCACACAC others(1): Show GCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00741.hp2 NA19043.hp1 HG00639.hp2 HG00741.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0005 a0001c0001t0004 a0002c0003t0005	a0001c0001t0004g0231 a0002c0003t0005g0229 a0002c0003t0005g0230 a0001c0001t0004g0231 a0002c0003t0005g0229 a0002c0003t0005g0230	3	372	0.0081	8	c.-97 others(17): Show c.-978_-977insTGTGTGTG	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding		885		chr5	TogoVar
HAPLN2_chr1_156614415_156630725	156617090	A A	AAAAGAAA others(1): Show AAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(9): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG03017.hp2 HG03490.hp2 HG04115.hp1 NA18947.hp2 NA18985.hp1 NA18994.hp1 NA19003.hp2 NA19011.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	12	418	0.0287	8	c.-26 others(19): Show c.-2611_-2610insAAAGAAAG	HAPLN2	ENSG00000132702.13	transcript	ENST00000255039.6	protein_coding		2324		chr1	TogoVar
HAPLN2_chr1_156614415_156630725	156623037	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(153): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18962.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0003g0013 a0001c0001t0007g0002	156	418	0.3732	8	c.-24 others(23): Show c.-24-394_-24-387dupTAAATAAA	HAPLN2	ENSG00000132702.13	transcript	ENST00000255039.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAPLN4_chr19_19249756_19267804	19265360	T T	TTCTATCT others(1): Show TTCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00741.hp2 others(24): Show HG00423.hp1 HG00558.hp2 HG00741.hp2 HG01071.hp2 HG01175.hp2 HG01255.hp2 HG01981.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02273.hp1 HG02818.hp2 HG03486.hp1 HG03710.hp2 NA18612.hp2 NA18962.hp2 NA18974.hp1 NA18982.hp2 NA18997.hp2 NA19004.hp1 NA19004.hp2 NA19059.hp2 NA19082.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0066 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0001t0009g0016 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0026 a0001c0002t0003g0005	27	400	0.0675	8	c.-26 others(19): Show c.-2636_-2629dupTAGATAGA	HAPLN4	ENSG00000187664.9	transcript	ENST00000291481.8	protein_coding		2557		chr19	TogoVar
HAS1_chr19_51708112_51728991	51714370	C C	CTAAATAA others(1): Show CTAAATAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01884.hp2 HG02258.hp1 others(7): Show HG01346.hp2 HG01884.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02976.hp1 HG03471.hp1 HG03579.hp1 NA18954.hp2 NA19080.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0003t0008 a0002c0004t0002 a0009c0012t0002	a0001c0001t0001g0032 a0001c0001t0002g0033 a0001c0001t0002g0150 others(5): Show a0001c0001t0001g0032 a0001c0001t0002g0033 a0001c0001t0002g0150 a0001c0003t0003g0272 a0001c0003t0008g0283 a0002c0004t0002g0165 a0002c0004t0002g0174 a0009c0012t0002g0146	10	464	0.0216	8	c.105 others(25): Show c.1059-276_1059-269dupTTTATTTA	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding	4/4			chr19	TogoVar
HAS1_chr19_51708112_51728991	51723884	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01069.hp1 others(39): Show HG00280.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG02071.hp2 HG02451.hp1 HG02698.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03834.hp1 HG04228.hp1 NA18940.hp2 NA18953.hp1 NA18960.hp2 NA18961.hp1 NA18968.hp2 NA18970.hp2 NA18992.hp1 NA18997.hp1 NA19002.hp1 NA19054.hp1 NA19058.hp1 NA19064.hp2 NA19070.hp1 NA19079.hp1 NA19087.hp1 NA19089.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0026 a0002c0004 a0010c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0002 a0001c0003t0003 a0001c0026t0001 a0002c0004t0002 a0010c0013t0002	a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0003g0230 others(23): Show a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0003g0230 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0002t0001g0003 a0001c0002t0001g0046 a0001c0002t0001g0233 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0002g0047 a0001c0002t0002g0236 a0001c0002t0003g0235 a0001c0002t0004g0237 a0001c0002t0004g0240 a0001c0002t0006g0222 a0001c0003t0002g0228 a0001c0003t0003g0017 a0001c0003t0003g0045 a0001c0003t0003g0229 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0026t0001g0234 a0002c0004t0002g0223 a0010c0013t0002g0242	42	464	0.0905	8	c.9+3 others(17): Show c.9+33_9+40dupGTGTGTGT	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding	1/4			chr19	TogoVar
HAS3_chr16_69100653_69122660	69103003	A A	ATGTGTGT others(1): Show ATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01361.hp1 HG01517.hp2 others(3): Show HG01346.hp2 HG01361.hp1 HG01517.hp2 HG02109.hp2 NA19007.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0005g0028 a0001c0001t0005g0105 others(3): Show a0001c0001t0001g0009 a0001c0001t0005g0028 a0001c0001t0005g0105 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0002t0002g0002	6	410	0.0146	8	c.-27 others(19): Show c.-2785_-2784insTGTGTGTG	HAS3	ENSG00000103044.11	transcript	ENST00000569188.6	protein_coding		2649		chr16	TogoVar
HAT1_chr2_171917461_171988686	171938024	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01361.hp1 HG01981.hp1 others(22): Show HG00558.hp1 HG01361.hp1 HG01981.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG04204.hp2 NA18941.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18982.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19066.hp1 NA19077.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0106 others(22): Show a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0271 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0308	25	326	0.0767	8	c.113 others(25): Show c.113-8640_113-8633dupCTCTCTCT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171953626	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18941.hp2 NA18942.hp1 others(5): Show HG02818.hp2 NA18941.hp2 NA18942.hp1 NA18974.hp1 NA18982.hp1 NA18986.hp2 NA18994.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0145 a0001c0001t0001g0154 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0309	8	326	0.0245	8	c.309 others(23): Show c.309+647_309+654dupAAAAAAAA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01167.hp2 others(5): Show HG00738.hp2 HG01070.hp2 HG01167.hp2 HG01257.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0034 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0065	8	326	0.0245	8	c.975 others(25): Show c.975+1264_975+1271dupTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS1_chr18_46099385_46133333	46126801	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18747.hp2 NA18951.hp1 others(2): Show HG01258.hp1 NA18747.hp2 NA18951.hp1 NA18951.hp2 NA18971.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0007c0010t0001 a0001c0001t0001 a0001c0001t0002 a0007c0010t0001	a0001c0001t0001g0094 a0001c0001t0001g0128 a0001c0001t0001g0205 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0128 a0001c0001t0001g0205 a0001c0001t0002g0249 a0007c0010t0001g0144	5	372	0.0134	8	c.786 others(25): Show c.786+1049_786+1056dupTATTTATT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS1_chr18_46099385_46133333	46130724	A A	AAAATAAA others(1): Show AAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01109.hp2 others(19): Show HG00140.hp1 HG00639.hp1 HG01109.hp2 HG01516.hp2 HG01517.hp1 HG02040.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG03490.hp1 HG03492.hp2 HG04184.hp2 NA18948.hp1 NA18992.hp2 NA19058.hp2 NA19084.hp2 NA20905.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0007 a0006c0009 a0001c0001 a0004c0007 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0004c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0007t0001 a0006c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0042 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0166 a0001c0001t0001g0194 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0002g0199 a0004c0007t0001g0281 a0006c0009t0001g0306	22	372	0.0591	8	c.25 others(19): Show c.2599_*2600insAAATAAAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding		2392		chr18	TogoVar
HAUS2_chr15_42543838_42574994	42565387	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03471.hp1 HG03704.hp1 others(3): Show HG01243.hp2 HG03471.hp1 HG03704.hp1 NA18944.hp2 NA18966.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0178 a0001c0001t0002g0269 a0001c0001t0002g0278 others(3): Show a0001c0001t0001g0178 a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0288 a0001c0001t0011g0131 a0001c0001t0012g0109	6	350	0.0171	8	c.499 others(25): Show c.499-1182_499-1175dupGTGTGTGT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HAUS7_chrX_153442668_153475576	153454511	G G	GGGGAGGG others(1): Show GGGGAGGGA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02622.hp2 HG03195.hp2 HG02572.hp1 HG02622.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0051 a0001c0002t0001g0017 a0001c0002t0001g0051	3	321	0.0094	8	c.931 others(20): Show c.931-11_931-4dupTCCCTCCC	HAUS7	ENSG00000213397.12	transcript	ENST00000370211.10	protein_coding	8/9			chrX	TogoVar
HAUS7_chrX_153442668_153475576	153475202	C C	CTTCGCTG others(1): Show CTTCGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	321	0.0031	8	c.-46 others(19): Show c.-4646_-4645insCCAGCGAA	HAUS7	ENSG00000213397.12	transcript	ENST00000370211.10	protein_coding		4627		chrX	TogoVar
HAUS8_chr19_17044729_17080452	17047189	A A	AAAACAAA others(1): Show AAAACAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(27): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00642.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG02280.hp1 HG02293.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp2 HG03927.hp2 HG06807.hp2 NA18906.hp2 NA19081.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0002 a0002c0001t0002 a0001c0003t0002 a0002c0001t0002	a0001c0003t0002g0018 a0001c0003t0002g0299 a0001c0003t0002g0300 others(26): Show a0001c0003t0002g0018 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0003t0002g0303 a0001c0003t0002g0305 a0001c0003t0002g0306 a0001c0003t0002g0307 a0001c0003t0002g0308 a0001c0003t0002g0309 a0001c0003t0002g0310 a0001c0003t0002g0311 a0001c0003t0002g0312 a0001c0003t0002g0313 a0001c0003t0002g0314 a0001c0003t0002g0315 a0001c0003t0002g0316 a0001c0003t0002g0317 a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0003t0002g0323 a0001c0003t0002g0331 a0001c0003t0002g0332 a0001c0003t0002g0333 a0001c0003t0002g0336 a0001c0003t0002g0358 a0001c0003t0002g0359 a0001c0003t0002g0360 a0002c0001t0002g0292 a0002c0001t0002g0296	30	400	0.0750	8	c.26 others(19): Show c.2683_*2684insGTTTGTTT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding		2539		chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044368	C C	CGAAGGAA others(1): Show CGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00738.hp2 others(17): Show HG00323.hp2 HG00642.hp2 HG00738.hp2 HG01123.hp1 HG01255.hp2 HG01981.hp2 HG02040.hp1 HG02148.hp2 HG02273.hp1 HG02647.hp2 HG03239.hp2 HG03453.hp2 NA18747.hp1 NA18970.hp2 NA18993.hp1 NA19030.hp2 NA19064.hp2 NA19079.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0013	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0013c0014	a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 others(2): Show a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0013c0014t0001	a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0054 others(17): Show a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0241 a0003c0003t0001g0269 a0003c0003t0001g0274 a0003c0003t0001g0291 a0003c0003t0001g0294 a0003c0003t0001g0307 a0003c0003t0001g0318 a0003c0003t0001g0331 a0003c0003t0001g0332 a0004c0004t0001g0171 a0004c0004t0001g0208 a0004c0004t0002g0017 a0004c0004t0002g0030 a0004c0004t0002g0041 a0013c0014t0001g0289	20	352	0.0568	8	c.782 others(25): Show c.782-1694_782-1687dupCTTCCTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044421	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp2 HG01071.hp2 others(17): Show HG00438.hp1 HG01069.hp2 HG01071.hp2 HG02040.hp2 HG02523.hp1 HG02735.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 NA18906.hp1 NA18939.hp1 NA18950.hp1 NA18951.hp2 NA18972.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19010.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001 a0007c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0115 a0001c0001t0001g0134 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0282 a0001c0001t0001g0322 a0001c0001t0002g0035 a0002c0002t0001g0201 a0002c0002t0001g0204 a0004c0004t0001g0208 a0007c0008t0001g0337 a0007c0008t0001g0340 a0007c0008t0001g0342	20	352	0.0568	8	c.782 others(25): Show c.782-1747_782-1740dupTTCTTTCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044468	A A	AAAGAAAG others(1): Show AAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02083.hp2 NA20752.hp1 HG00323.hp2 HG02083.hp2 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0018 a0004c0004 a0004c0018	a0004c0004t0002 a0004c0018t0002 a0004c0004t0002 a0004c0018t0002	a0004c0004t0002g0026 a0004c0004t0002g0041 a0004c0018t0002g0027 a0004c0004t0002g0026 a0004c0004t0002g0041 a0004c0018t0002g0027	3	352	0.0085	8	c.782 others(25): Show c.782-1787_782-1786insCCTTTCTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044586	G G	GGAAAGAA others(1): Show GGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp1 HG02074.hp1 HG00099.hp2 HG01261.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0063 a0002c0002t0001g0093 a0002c0002t0001g0051 a0002c0002t0001g0063 a0002c0002t0001g0093	3	352	0.0085	8	c.782 others(25): Show c.782-1912_782-1905dupTTTCTTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044676	A A	AGGAGGGA others(1): Show AGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(109): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG03098.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04228.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA20752.hp2 NA20905.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0008 a0014	a0001c0001 a0001c0016 a0003c0003 others(4): Show a0001c0001 a0001c0016 a0003c0003 a0005c0005 a0006c0006 a0008c0010 a0014c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0016t0001 a0003c0003t0001 a0005c0005t0001 a0005c0005t0002 a0006c0006t0002 a0006c0006t0003 a0008c0010t0004 a0014c0013t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 others(108): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0322 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0008g0162 a0001c0016t0001g0148 a0003c0003t0001g0320 a0005c0005t0001g0072 a0005c0005t0002g0040 a0006c0006t0002g0009 a0006c0006t0003g0003 a0006c0006t0003g0045 a0006c0006t0003g0046 a0006c0006t0003g0047 a0008c0010t0004g0223 a0014c0013t0001g0139	112	352	0.3182	8	c.782 others(25): Show c.782-2002_782-1995dupCTCCCTCC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR2_chr5_157080832_157114044	157086103	C C	CAGAGATA others(1): Show CAGAGATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01981.hp2 others(9): Show HG01256.hp2 HG01258.hp2 HG01981.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp1 HG02886.hp1 HG03209.hp1 HG03471.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0012 a0001c0001t0003g0080 a0001c0001t0003g0201 others(6): Show a0001c0001t0003g0012 a0001c0001t0003g0080 a0001c0001t0003g0201 a0001c0001t0003g0308 a0002c0002t0003g0011 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0314	12	380	0.0316	8	c.99 others(17): Show c.991_*998dupATATCTCT	HAVCR2	ENSG00000135077.10	transcript	ENST00000307851.9	protein_coding	7/7	998		chr5	TogoVar
HAX1_chr1_154267629_154280875	154267880	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01106.hp2 others(21): Show HG01069.hp2 HG01071.hp2 HG01106.hp2 HG02055.hp1 HG02717.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp2 HG03942.hp2 HG06807.hp2 NA18939.hp1 NA18981.hp1 NA18992.hp1 NA19011.hp1 NA19066.hp1 NA19077.hp1 NA19077.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0002 a0001c0001t0001 a0001c0001t0002 a0004c0006t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0004 others(1): Show a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0004 a0004c0006t0002g0021	24	392	0.0612	8	c.-48 others(19): Show c.-4844_-4843insTTTTTTTT	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		4748		chr1	TogoVar
HBA2_chr16_167876_178710	170831	T T	TCACACAC others(1): Show TCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01192.hp2 others(28): Show HG01069.hp1 HG01071.hp2 HG01192.hp2 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02486.hp1 HG02572.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG04184.hp1 NA18949.hp1 NA18953.hp2 NA18976.hp2 NA18983.hp2 NA19002.hp1 NA19066.hp1 NA19079.hp1 NA19084.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007	31	386	0.0803	8	c.-20 others(19): Show c.-2082_-2081insCACACACA	HBA2	ENSG00000188536.13	transcript	ENST00000251595.11	protein_coding		2044		chr16	TogoVar
HBM_chr16_160978_171764	164759	G G	GGCGGGGT others(1): Show GGCGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG03130.hp2 HG03516.hp1 others(2): Show HG00609.hp2 HG03130.hp2 HG03516.hp1 HG03540.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0001t0001g0001 a0001c0002t0001g0001	5	370	0.0135	8	c.-12 others(19): Show c.-1239_-1238insGCGGGGTC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1218		chr16	TogoVar
HBM_chr16_160978_171764	164771	T T	TCGCGGGG others(1): Show TCGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG01884.hp1 others(9): Show HG00408.hp2 HG00673.hp1 HG01884.hp1 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02258.hp1 HG02486.hp2 NA18983.hp2 NA18990.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	12	370	0.0324	8	c.-12 others(19): Show c.-1227_-1226insCGCGGGGC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1206		chr16	TogoVar
HBM_chr16_160978_171764	164782	G G	GGCGGGGT others(1): Show GGCGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 NA18943.hp1 NA18970.hp1 others(2): Show HG03098.hp2 NA18943.hp1 NA18970.hp1 NA18990.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0002c0003t0001g0001 a0001c0001t0001g0001 a0002c0003t0001g0001	5	370	0.0135	8	c.-12 others(19): Show c.-1216_-1215insGCGGGGTC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1195		chr16	TogoVar
HBM_chr16_160978_171764	164805	G G	GGCGAGGT others(1): Show GGCGAGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02258.hp2 HG02572.hp2 others(6): Show HG01106.hp2 HG02258.hp2 HG02572.hp2 HG02622.hp2 HG02723.hp2 HG02897.hp2 HG03225.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	9	370	0.0243	8	c.-11 others(19): Show c.-1193_-1192insGCGAGGTC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1172		chr16	TogoVar
HBM_chr16_160978_171764	164894	G G	GGGCGAGG others(1): Show GGGCGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02135.hp1 NA18986.hp1 others(3): Show HG02027.hp2 HG02135.hp1 NA18986.hp1 NA18993.hp2 NA19066.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	370	0.0162	8	c.-11 others(19): Show c.-1104_-1103insGGCGAGGT	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1083		chr16	TogoVar
HBM_chr16_160978_171764	170831	T T	TCACACAC others(1): Show TCACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01192.hp1 others(25): Show HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02486.hp1 HG02572.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG04184.hp1 NA18949.hp2 NA18963.hp1 NA18983.hp1 NA19002.hp1 NA19066.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0009 others(1): Show a0001c0001 a0001c0004 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0009t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0002g0001 a0001c0004t0001g0001 a0001c0009t0001g0001 a0002c0003t0001g0001	28	370	0.0757	8	c.41 others(19): Show c.4123_*4124insCACACACA	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		4068		chr16	TogoVar
HBP1_chr7_107164003_107207522	107171069	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG03098.hp2 others(2): Show HG02615.hp2 HG02886.hp2 HG03098.hp2 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0054	5	368	0.0136	8	c.-16 others(25): Show c.-16+1885_-16+1886insTTTTTTTT	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBP1_chr7_107164003_107207522	107171071	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG02132.hp1 others(6): Show HG00438.hp2 HG00673.hp2 HG02132.hp1 HG02145.hp1 HG02622.hp2 HG03041.hp2 HG03471.hp2 NA18954.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0117 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0130	9	368	0.0245	8	c.-16 others(25): Show c.-16+1887_-16+1888insTTTTTTTT	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBP1_chr7_107164003_107207522	107171073	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG03139.hp1 others(3): Show HG02572.hp2 HG02818.hp2 HG03139.hp1 NA18522.hp1 NA18957.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0202 others(3): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205	6	368	0.0163	8	c.-16 others(25): Show c.-16+1896_-16+1903dupTTTTTTTT	HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBS1L_chr6_134955378_135059822	135000222	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02572.hp2 others(7): Show HG01891.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp1 HG06807.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0006 a0001c0001t0049 a0008c0013t0051 a0001c0001t0006 a0001c0001t0049 a0008c0013t0051	a0001c0001t0006g0004 a0001c0001t0006g0019 a0001c0001t0006g0020 others(6): Show a0001c0001t0006g0004 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0026 a0001c0001t0049g0027 a0008c0013t0051g0025	10	348	0.0287	8	c.539 others(25): Show c.539+2504_539+2511dupAAAAAAAA	HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	5/17			chr6	TogoVar
HBZ_chr16_147644_159503	154167	G G	GGCGGGGT others(1): Show GGCGGGGTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00642.hp2 others(73): Show HG00438.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG02055.hp1 HG02129.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp2 NA18997.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0033 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0003g0007 a0001c0001t0003g0053 a0001c0001t0003g0085	76	432	0.1759	8	c.300 others(21): Show c.300+77_300+78insTCGCGGGG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCAR1_chr12_122721076_122735844	122726936	T T	TATAGATA others(1): Show TATAGATAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG02976.hp1 HG03041.hp2 others(3): Show HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03453.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0031 a0001c0001t0043 a0001c0001t0021 a0001c0001t0031 a0001c0001t0043	a0001c0001t0021g0000 a0001c0001t0031g0000 a0001c0001t0043g0000 a0001c0001t0021g0000 a0001c0001t0031g0000 a0001c0001t0043g0000	6	436	0.0138	8	c.23 others(19): Show c.2362_*2363insCTATCTAT	HCAR1	ENSG00000196917.6	transcript	ENST00000432564.3	protein_coding	1/1	2362		chr12	TogoVar
HCAR2_chr12_122696293_122708357	122698027	T T	TCTTGCTT others(1): Show TCTTGCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(45): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00741.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01975.hp2 HG01981.hp1 HG02055.hp1 HG02148.hp2 HG02257.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03239.hp1 HG03492.hp1 HG03710.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18992.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19080.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0002c0002t0001 a0002c0002t0014 a0003c0003t0001 a0004c0011t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0009g0000 others(4): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0009g0000 a0002c0002t0001g0000 a0002c0002t0014g0000 a0003c0003t0001g0000 a0004c0011t0004g0000	48	428	0.1122	8	c.41 others(19): Show c.4164_*4165insCAAGCAAG	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		3265		chr12	TogoVar
HCAR2_chr12_122696293_122708357	122698071	T T	TTTTCTTC others(1): Show TTTTCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01099.hp1 others(51): Show HG00423.hp1 HG00423.hp2 HG01099.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG02040.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp2 HG03098.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19065.hp1 NA19075.hp2 NA19078.hp2 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016	a0001c0001t0002g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 others(1): Show a0001c0001t0002g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0016g0000	54	428	0.1262	8	c.41 others(19): Show c.4120_*4121insGGAAGAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		3221		chr12	TogoVar
HCAR2_chr12_122696293_122708357	122698096	T T	TTTTCTTC others(1): Show TTTTCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG02040.hp2 HG02809.hp1 others(3): Show HG01258.hp2 HG02040.hp2 HG02809.hp1 HG03098.hp1 HG03516.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	6	428	0.0140	8	c.40 others(19): Show c.4095_*4096insGGAAGAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		3196		chr12	TogoVar
HCFC1R1_chr16_3017625_3028942	3019751	G G	GTTTATTT others(1): Show GTTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01496.hp1 HG02257.hp1 others(11): Show HG01074.hp1 HG01496.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG03017.hp2 HG03041.hp1 HG03453.hp1 HG03486.hp2 HG04228.hp2 NA18942.hp2 NA18988.hp2 NA19011.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	14	412	0.0340	8	c.31 others(19): Show c.3104_*3111dupTAAATAAA	HCFC1R1	ENSG00000103145.11	transcript	ENST00000248089.8	protein_coding		2873		chr16	TogoVar

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