Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FSCN1_chr7_5587816_5611655	5600900	TGCCTCGG others(128): Show TGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTGCCT GGTCCTTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCC AGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00609.hp2 others(63): Show HG00408.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01258.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02165.hp2 HG02280.hp2 HG02622.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG04204.hp2 NA18612.hp1 NA18906.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18985.hp1 NA18990.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19066.hp1 NA19077.hp2 NA19079.hp1 NA19086.hp1 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0006t0001	a0001c0001t0001g0037 a0001c0001t0001g0141 a0001c0001t0001g0215 others(50): Show a0001c0001t0001g0037 a0001c0001t0001g0141 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0003g0111 a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0026 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0064 a0001c0002t0001g0101 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0188 a0001c0002t0001g0216 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0002g0015 a0001c0002t0002g0027 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0158 a0001c0002t0002g0208 a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0243 a0001c0002t0004g0007 a0001c0002t0004g0026 a0001c0002t0008g0042 a0001c0002t0008g0157 a0001c0002t0010g0038 a0001c0006t0001g0146	66	378	0.1746	-135	c.833 others(17): Show c.833-2324_833-2190del		FSCN1	ENSG00000075618.18	transcript	ENST00000382361.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
GATA5_chr20_62458497_62480995	62476963	TTTTTTCT others(128): Show TTTTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGA AAGTTCTTTTTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01891.hp2 others(1): Show HG01106.hp2 HG01255.hp1 HG01891.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0033 a0001c0002t0001g0213 a0001c0002t0001g0216 others(1): Show a0001c0002t0001g0033 a0001c0002t0001g0213 a0001c0002t0001g0216 a0002c0005t0001g0036	4	382	0.0105	-135	c.-11 others(11): Show c.-1190_-1056del		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					969		chr20	TogoVar
GFRAL_chr6_55322469_55407493	55324120	TGTTGTTT others(128): Show TGTTGTTTAATTTCTCCAAAAATTACTGCTTCATGTCTGCTTTTATTACT TGGCATCTTAGAACTCTGTTTACAGGTCTTTTAGCCAAGAAACTCATGAC CATATGTATGTATTCTTTTCAGAATGTCAATTTTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG06807.hp1 NA19030.hp2 others(1): Show HG02615.hp1 HG06807.hp1 NA19030.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0005 a0003c0003 a0004c0004 a0001c0005 a0003c0003 a0004c0004	a0001c0005t0003 a0003c0003t0002 a0004c0004t0002 a0001c0005t0003 a0003c0003t0002 a0004c0004t0002	a0001c0005t0003g0239 a0001c0005t0003g0242 a0003c0003t0002g0124 others(1): Show a0001c0005t0003g0239 a0001c0005t0003g0242 a0003c0003t0002g0124 a0004c0004t0002g0351	4	386	0.0104	-135	c.-34 others(11): Show c.-3434_-3300del		GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding					3348		chr6	TogoVar
GPR4_chr19_45584764_45607212	45594721	GCCTGTAA others(128): Show GCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCGCCTGAGG TCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACT AAAAATACAAAAATTAGCTGGGCGTGGTGGCACATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(164): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0008 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0002t0002 a0001c0004t0002 a0002c0008t0002 a0003c0005t0003	a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0016 others(150): Show a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0311 a0001c0001t0002g0321 a0001c0001t0002g0330 a0001c0001t0002g0342 a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0093 a0001c0001t0003g0117 a0001c0001t0003g0131 a0001c0001t0003g0146 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0179 a0001c0001t0003g0201 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0247 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0306 a0001c0001t0008g0307 a0001c0001t0012g0042 a0001c0001t0013g0143 a0001c0001t0014g0157 a0001c0001t0015g0111 a0001c0001t0016g0178 a0001c0002t0002g0011 a0001c0002t0002g0035 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0094 a0001c0002t0002g0129 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0324 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0332 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0353 a0001c0002t0002g0354 a0001c0002t0002g0363 a0001c0004t0002g0135 a0001c0004t0002g0136 a0002c0008t0002g0331 a0003c0005t0003g0356	167	450	0.3711	-135	c.-83 others(19): Show c.-831-2159_-831-2025del		GPR4	ENSG00000177464.5	transcript	ENST00000323040.5	protein_coding	1/1						chr19	TogoVar
GRTP1_chr13_113319163_113369130	113353060	ACCCAGCC others(128): Show ACCCAGCCCCACACTCTGGGTAGGAACCCACAGCTGAAAGCAGGGACCCA GCCCCACACTCTGGGTAGGAACCCACAGCTGAAAGCAGGGACCCAGCCCC ACACTCTGGGTAGGAACCCACAGCTGAAAGCAGGGG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA20300.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0149 a0001c0001t0003g0148 a0001c0001t0002g0149 a0001c0001t0003g0148	2	288	0.0069	-135	c.340 others(17): Show c.340+2128_341-2088del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	3/7						chr13	TogoVar
HEXIM1_chr17_45143475_45157099	45154556	AGTGGCTC others(128): Show AGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGA TCACCTGAGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCC TGTCTCTACTAAAAATACAAAAATTGGCCAGGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0000 a0001c0001t0034g0000	1	442	0.0023	-135	c.42 others(11): Show c.4287_*4421del		HEXIM1	ENSG00000186834.4	transcript	ENST00000332499.4	protein_coding					2458		chr17	TogoVar
HSPG2_chr1_21817244_21942310	21818006	AGCTGGGA others(128): Show AGCTGGGATTACAGGTGCACACCACCACGCTCAGCTAATTTTTGTATTTT TAGTAGAGACGGGATTTCTCCATGTTGGACAGGCTGGTCTCAAACTCCTG ACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(287): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(71): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0029 a0030 a0033 a0034 a0036 a0037 a0038 a0040 a0041 a0042 a0043 a0044 a0045 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082	a0001c0001 a0001c0002 a0001c0003 others(123): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0012 a0001c0018 a0001c0032 a0001c0039 a0001c0052 a0001c0066 a0001c0070 a0001c0071 a0001c0079 a0001c0081 a0001c0083 a0001c0114 a0001c0115 a0001c0122 a0001c0127 a0001c0128 a0001c0129 a0002c0004 a0002c0017 a0002c0036 a0002c0062 a0002c0080 a0002c0136 a0003c0005 a0003c0031 a0003c0104 a0003c0118 a0004c0028 a0004c0057 a0004c0060 a0004c0065 a0004c0102 a0004c0105 a0004c0106 a0004c0135 a0005c0023 a0005c0043 a0005c0092 a0006c0024 a0006c0048 a0006c0130 a0006c0131 a0007c0025 a0007c0045 a0007c0047 a0007c0133 a0008c0008 a0008c0061 a0009c0014 a0009c0120 a0009c0121 a0010c0020 a0010c0126 a0011c0007 a0012c0011 a0012c0107 a0013c0013 a0013c0103 a0014c0016 a0015c0015 a0016c0019 a0017c0010 a0018c0022 a0019c0094 a0019c0095 a0020c0026 a0021c0049 a0021c0134 a0022c0034 a0023c0030 a0024c0033 a0025c0035 a0026c0037 a0027c0029 a0029c0027 a0030c0021 a0033c0087 a0034c0088 a0036c0091 a0037c0044 a0038c0042 a0040c0093 a0041c0137 a0042c0132 a0043c0046 a0044c0056 a0045c0124 a0047c0123 a0048c0097 a0049c0098 a0050c0101 a0051c0099 a0052c0100 a0053c0096 a0054c0064 a0055c0059 a0056c0063 a0057c0082 a0059c0110 a0060c0111 a0061c0067 a0062c0112 a0063c0068 a0064c0069 a0065c0113 a0066c0075 a0067c0072 a0069c0051 a0070c0073 a0071c0116 a0072c0117 a0073c0074 a0074c0119 a0075c0076 a0076c0077 a0077c0078 a0078c0055 a0079c0054 a0080c0053 a0081c0084 a0082c0040	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(128): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0006t0001 a0001c0006t0009 a0001c0006t0010 a0001c0009t0001 a0001c0012t0001 a0001c0018t0001 a0001c0032t0012 a0001c0032t0015 a0001c0039t0006 a0001c0052t0001 a0001c0066t0001 a0001c0070t0001 a0001c0071t0001 a0001c0079t0001 a0001c0081t0001 a0001c0083t0001 a0001c0114t0001 a0001c0115t0001 a0001c0122t0001 a0001c0127t0001 a0001c0128t0001 a0001c0129t0001 a0002c0004t0002 a0002c0017t0002 a0002c0017t0013 a0002c0036t0002 a0002c0062t0002 a0002c0080t0002 a0002c0136t0014 a0003c0005t0002 a0003c0031t0002 a0003c0104t0002 a0003c0118t0002 a0004c0028t0001 a0004c0057t0002 a0004c0060t0001 a0004c0065t0001 a0004c0102t0001 a0004c0105t0002 a0004c0106t0001 a0004c0135t0001 a0005c0023t0001 a0005c0043t0001 a0005c0092t0001 a0006c0024t0002 a0006c0048t0002 a0006c0130t0002 a0006c0131t0001 a0007c0025t0002 a0007c0045t0002 a0007c0047t0001 a0007c0133t0001 a0008c0008t0002 a0008c0061t0002 a0009c0014t0001 a0009c0120t0001 a0009c0121t0001 a0010c0020t0002 a0010c0126t0001 a0011c0007t0002 a0012c0011t0001 a0012c0107t0001 a0013c0013t0002 a0013c0103t0011 a0014c0016t0002 a0015c0015t0001 a0016c0019t0002 a0017c0010t0001 a0018c0022t0001 a0019c0094t0001 a0019c0095t0001 a0020c0026t0001 a0021c0049t0002 a0021c0134t0002 a0022c0034t0001 a0023c0030t0001 a0024c0033t0005 a0025c0035t0002 a0026c0037t0001 a0027c0029t0001 a0029c0027t0001 a0030c0021t0001 a0033c0087t0001 a0034c0088t0001 a0036c0091t0002 a0037c0044t0001 a0038c0042t0001 a0040c0093t0001 a0041c0137t0002 a0042c0132t0008 a0043c0046t0002 a0044c0056t0002 a0045c0124t0004 a0047c0123t0002 a0048c0097t0001 a0049c0098t0001 a0050c0101t0002 a0051c0099t0002 a0052c0100t0002 a0053c0096t0002 a0054c0064t0001 a0055c0059t0002 a0056c0063t0002 a0057c0082t0002 a0059c0110t0001 a0060c0111t0001 a0061c0067t0002 a0062c0112t0001 a0063c0068t0001 a0064c0069t0001 a0065c0113t0001 a0066c0075t0002 a0067c0072t0001 a0069c0051t0001 a0070c0073t0001 a0071c0116t0001 a0072c0117t0001 a0073c0074t0002 a0074c0119t0001 a0075c0076t0001 a0076c0077t0002 a0077c0078t0001 a0078c0055t0001 a0079c0054t0001 a0080c0053t0001 a0081c0084t0001 a0082c0040t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(279): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0109 a0001c0001t0001g0144 a0001c0001t0001g0177 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0002t0001g0001 a0001c0002t0001g0050 a0001c0002t0001g0065 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0136 a0001c0002t0001g0149 a0001c0002t0001g0158 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0228 a0001c0002t0001g0237 a0001c0002t0001g0277 a0001c0002t0001g0285 a0001c0002t0003g0236 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0023 a0001c0003t0001g0038 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0066 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0167 a0001c0003t0001g0251 a0001c0003t0001g0260 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0001g0293 a0001c0006t0001g0041 a0001c0006t0001g0042 a0001c0006t0001g0055 a0001c0006t0001g0059 a0001c0006t0001g0090 a0001c0006t0001g0215 a0001c0006t0009g0027 a0001c0006t0010g0040 a0001c0009t0001g0179 a0001c0009t0001g0206 a0001c0009t0001g0208 a0001c0012t0001g0186 a0001c0012t0001g0197 a0001c0012t0001g0198 a0001c0018t0001g0110 a0001c0018t0001g0263 a0001c0018t0001g0264 a0001c0032t0012g0209 a0001c0032t0015g0301 a0001c0039t0006g0009 a0001c0039t0006g0096 a0001c0052t0001g0139 a0001c0066t0001g0147 a0001c0070t0001g0127 a0001c0071t0001g0205 a0001c0079t0001g0086 a0001c0081t0001g0199 a0001c0083t0001g0107 a0001c0114t0001g0250 a0001c0115t0001g0249 a0001c0122t0001g0064 a0001c0127t0001g0265 a0001c0128t0001g0075 a0001c0129t0001g0270 a0002c0004t0002g0113 a0002c0004t0002g0114 a0002c0004t0002g0123 a0002c0004t0002g0125 a0002c0004t0002g0126 a0002c0004t0002g0132 a0002c0004t0002g0137 a0002c0004t0002g0141 a0002c0004t0002g0151 a0002c0004t0002g0233 a0002c0004t0002g0234 a0002c0017t0002g0028 a0002c0017t0002g0286 a0002c0017t0013g0235 a0002c0036t0002g0060 a0002c0036t0002g0118 a0002c0062t0002g0262 a0002c0080t0002g0146 a0002c0136t0014g0011 a0003c0005t0002g0124 a0003c0005t0002g0193 a0003c0005t0002g0195 a0003c0005t0002g0196 a0003c0005t0002g0212 a0003c0005t0002g0213 a0003c0005t0002g0248 a0003c0005t0002g0258 a0003c0031t0002g0244 a0003c0031t0002g0245 a0003c0104t0002g0014 a0003c0118t0002g0035 a0004c0028t0001g0150 a0004c0028t0001g0168 a0004c0057t0002g0080 a0004c0060t0001g0079 a0004c0065t0001g0153 a0004c0102t0001g0226 a0004c0105t0002g0088 a0004c0106t0001g0230 a0004c0135t0001g0102 a0005c0023t0001g0099 a0005c0043t0001g0100 a0005c0092t0001g0172 a0006c0024t0002g0003 a0006c0048t0002g0103 a0006c0130t0002g0104 a0006c0131t0001g0082 a0007c0025t0002g0083 a0007c0025t0002g0085 a0007c0045t0002g0087 a0007c0047t0001g0084 a0007c0133t0001g0243 a0008c0008t0002g0181 a0008c0008t0002g0182 a0008c0008t0002g0183 a0008c0008t0002g0185 a0008c0061t0002g0155 a0009c0014t0001g0094 a0009c0014t0001g0164 a0009c0014t0001g0165 a0009c0120t0001g0016 a0009c0121t0001g0176 a0010c0020t0002g0032 a0010c0020t0002g0033 a0010c0020t0002g0171 a0010c0126t0001g0239 a0011c0007t0002g0025 a0011c0007t0002g0029 a0011c0007t0002g0049 a0011c0007t0002g0242 a0012c0011t0001g0002 a0012c0011t0001g0081 a0012c0107t0001g0224 a0013c0013t0002g0005 a0013c0013t0002g0026 a0013c0103t0011g0131 a0014c0016t0002g0057 a0014c0016t0002g0058 a0014c0016t0002g0063 a0015c0015t0001g0159 a0015c0015t0001g0160 a0015c0015t0001g0161 a0016c0019t0002g0240 a0016c0019t0002g0241 a0016c0019t0002g0255 a0017c0010t0001g0119 a0017c0010t0001g0142 a0017c0010t0001g0152 a0018c0022t0001g0021 a0018c0022t0001g0022 a0019c0094t0001g0180 a0019c0095t0001g0148 a0020c0026t0001g0214 a0020c0026t0001g0238 a0021c0049t0002g0012 a0021c0134t0002g0030 a0022c0034t0001g0219 a0022c0034t0001g0220 a0023c0030t0001g0116 a0023c0030t0001g0117 a0024c0033t0005g0135 a0025c0035t0002g0004 a0026c0037t0001g0222 a0026c0037t0001g0223 a0027c0029t0001g0138 a0027c0029t0001g0156 a0029c0027t0001g0092 a0029c0027t0001g0093 a0030c0021t0001g0202 a0030c0021t0001g0210 a0033c0087t0001g0034 a0034c0088t0001g0128 a0036c0091t0002g0173 a0037c0044t0001g0097 a0038c0042t0001g0157 a0040c0093t0001g0178 a0041c0137t0002g0062 a0042c0132t0008g0010 a0043c0046t0002g0184 a0044c0056t0002g0282 a0045c0124t0004g0101 a0047c0123t0002g0108 a0048c0097t0001g0024 a0049c0098t0001g0163 a0050c0101t0002g0162 a0051c0099t0002g0031 a0052c0100t0002g0174 a0053c0096t0002g0170 a0054c0064t0001g0078 a0055c0059t0002g0069 a0056c0063t0002g0112 a0057c0082t0002g0154 a0059c0110t0001g0043 a0060c0111t0001g0039 a0061c0067t0002g0246 a0062c0112t0001g0279 a0063c0068t0001g0204 a0064c0069t0001g0061 a0065c0113t0001g0190 a0066c0075t0002g0166 a0067c0072t0001g0133 a0069c0051t0001g0143 a0070c0073t0001g0145 a0071c0116t0001g0229 a0072c0117t0001g0288 a0073c0074t0002g0203 a0074c0119t0001g0297 a0075c0076t0001g0056 a0076c0077t0002g0211 a0077c0078t0001g0232 a0078c0055t0001g0095 a0079c0054t0001g0077 a0080c0053t0001g0169 a0081c0084t0001g0287 a0082c0040t0002g0189	290	310	0.9355	-135	c.51 others(11): Show c.5175_*5309del		HSPG2	ENSG00000142798.20	transcript	ENST00000374695.8	protein_coding					4237		chr1	TogoVar
IL36B_chr2_113017089_113057867	113020478	AACTTTTT others(128): Show AACTTTTTAAATTTTTAAAAAGTAAAAATGTAGGGCAGGGAAGAATGAAA ACACCATTGGAAGTGTAAATTTTAAAAAAATTTCGGACCATGGCCTAGGG GTTGGAAACCCCTGCTTTATATGCTAGGACAACAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG02970.hp1 others(1): Show HG02145.hp1 HG02886.hp2 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0038 a0001c0001t0002g0147 a0001c0001t0004g0264 a0001c0001t0002g0038 a0001c0001t0002g0147 a0001c0001t0004g0264	4	404	0.0099	-135	c.20 others(11): Show c.2061_*2195del		IL36B	ENSG00000136696.11	transcript	ENST00000259213.9	protein_coding					1610		chr2	TogoVar
IL3RA_chrX_1331785_1387689	1365619	CGGGTGAG others(128): Show CGGGTGAGCCGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGT GAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCG GGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	115	0.0087	-135	c.874 others(15): Show c.874+382_874+516del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366182	GGGGTGCG others(128): Show GGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGT GAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCC GGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	115	0.0087	-135	c.874 others(16): Show c.874+936_874+1070del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366362	GGGGTGCG others(128): Show GGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGT GAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCG GGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCCCC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	115	0.0087	-135	c.874 others(17): Show c.874+1116_874+1250del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5D_chr2_233055342_233212903	233180695	CGCCCAGC others(128): Show CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTG GCCAGGCTGATCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTCGGCC TCCCAAAGTGCTGGGATTACATGCGCCCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp2 others(41): Show HG00140.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG00738.hp2 HG01109.hp2 HG01346.hp2 HG01496.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02809.hp1 HG02895.hp1 HG02970.hp1 HG03041.hp1 HG03225.hp2 HG03491.hp2 HG03516.hp2 HG04204.hp1 NA18960.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18993.hp2 NA18995.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0001c0021 others(3): Show a0001c0001 a0001c0005 a0001c0021 a0002c0002 a0002c0025 a0008c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0005t0002 a0001c0021t0001 a0002c0002t0003 a0002c0002t0004 a0002c0025t0003 a0008c0027t0012	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(41): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0221 a0001c0001t0002g0254 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0002g0289 a0001c0001t0002g0303 a0001c0001t0004g0048 a0001c0001t0004g0057 a0001c0001t0006g0177 a0001c0001t0007g0198 a0001c0001t0007g0241 a0001c0001t0009g0149 a0001c0001t0009g0182 a0001c0001t0009g0245 a0001c0001t0009g0251 a0001c0001t0016g0125 a0001c0005t0002g0025 a0001c0021t0001g0129 a0002c0002t0003g0266 a0002c0002t0003g0288 a0002c0002t0004g0034 a0002c0002t0004g0044 a0002c0002t0004g0055 a0002c0025t0003g0185 a0008c0027t0012g0127	44	310	0.1419	-135	c.207 others(19): Show c.2072-1594_2072-1460del		INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	18/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
INSR_chr19_7107265_7299414	7157176	GGCCATGT others(128): Show GGCCATGTTGGCCAGGCTGGTCTGAACTCCTGACCTCAGGTGGTCCACCC GCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACTGCGCCTG GCATTTTTTTTGTATTTTTATTAGAGACGGGGTTTT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0033 a0001c0017t0033	a0001c0017t0033g0170 a0001c0017t0033g0170	1	300	0.0033	-135	c.203 others(19): Show c.2030-4384_2030-4250del		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21						chr19	TogoVar
IRAG2_chr12_25047706_25113335	25092085	CGAAACAC others(128): Show CGAAACACCATCTCTACTACAAATACAAAAATTAGCCAGGTGTGGTAGCG GGCGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGCAGATCACCTA AAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGT	C C	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	344	0.0029	-135	c.606 others(17): Show c.606+1907_606+2041del		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	14/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGA1_chr5_52782916_52964209	52912402	TGTATTAT others(128): Show TGTATTATATATAGTGTATCCACTATAGGTATTATATATAGTGTATCCAC TATAGGTATTATATATAGTGTATCCAGTATATGTATTATATATAGTGTAT CCACTATAGGTATTATATATAGTGTATCCACTATAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 NA18522.hp2 HG02055.hp2 HG02818.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0006 a0001c0002t0091 a0001c0004t0089 a0001c0001t0006 a0001c0002t0091 a0001c0004t0089	a0001c0001t0006g0088 a0001c0002t0091g0032 a0001c0004t0089g0163 a0001c0001t0006g0088 a0001c0002t0091g0032 a0001c0004t0089g0163	3	322	0.0093	-135	c.185 others(19): Show c.1857+2059_1857+2193del		ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
KRTAP4-7_chr17_41079150_41090144	41084358	GGCCCCAG others(128): Show GGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCC ACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTG CTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02486.hp1 HG02622.hp2 HG02630.hp2 others(4): Show HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02895.hp1 HG02896.hp2 HG03579.hp1 HG06807.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0000 a0007c0007t0002g0000	7	442	0.0158	-135	c.183 others(7): Show c.183_317del	p.Pro others(12): Show p.Pro62_Gln106del	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding	1/1	240/995	183/468	61/155		INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR2_chr12_117448012_117973990	117541079	ATGATGTG others(128): Show ATGATGTGGAGGAATGGGAGGCAGGGAGGCAGGCAGGGGGGAACAGTAGC TGATGTGGAGGAATGGGAGGCAGGGAGGCAGGTAGGGAGGAACAGTAGCT GATGTGGAGGAATGGTAGGCAGGGAGGAACAGTAGC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0059 a0001c0003t0015g0059	1	196	0.0051	-135	c.151 others(19): Show c.1519-1327_1519-1193del		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	9/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117541161	TAGGGAGG others(128): Show TAGGGAGGAACAGTAGCTGATGTGGAGGAATGGTAGGCAGGGAGGAACAG TAGCTGATGTGGAGGCATGGGAGGCAGGGAGGCAGGCAGGGGGGAACAGT AGCTGATGTGGAGGCATGGGAGGCAGGGAGGCAGGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02486.hp2 others(6): Show HG01884.hp1 HG02055.hp1 HG02486.hp2 HG02717.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0013	a0001c0001t0034 a0001c0001t0077 a0001c0001t0081 others(6): Show a0001c0001t0034 a0001c0001t0077 a0001c0001t0081 a0001c0003t0004 a0001c0003t0080 a0001c0008t0088 a0001c0008t0130 a0001c0009t0057 a0001c0013t0059	a0001c0001t0034g0026 a0001c0001t0077g0065 a0001c0001t0081g0062 others(6): Show a0001c0001t0034g0026 a0001c0001t0077g0065 a0001c0001t0081g0062 a0001c0003t0004g0146 a0001c0003t0080g0068 a0001c0008t0088g0175 a0001c0008t0130g0143 a0001c0009t0057g0042 a0001c0013t0059g0043	9	196	0.0459	-135	c.151 others(19): Show c.1519-1409_1519-1275del		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	9/19						chr12	TogoVar
LDLRAD2_chr1_21807265_21830225	21818005	TAGCTGGG others(128): Show TAGCTGGGATTACAGGTGCACACCACCACGCTCAGCTAATTTTTGTATTT TTAGTAGAGACGGGATTTCTCCATGTTGGACAGGCTGGTCTCAAACTCCT GACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAG	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	454	0.0022	-135	c.643 others(17): Show c.643+1932_643+2066del		LDLRAD2	ENSG00000187942.12	transcript	ENST00000344642.7	protein_coding	3/4						chr1	TogoVar
LDLRAD2_chr1_21807265_21830225	21818006	AGCTGGGA others(128): Show AGCTGGGATTACAGGTGCACACCACCACGCTCAGCTAATTTTTGTATTTT TAGTAGAGACGGGATTTCTCCATGTTGGACAGGCTGGTCTCAAACTCCTG ACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(420): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0010 a0001c0012 others(9): Show a0001c0001 a0001c0010 a0001c0012 a0002c0002 a0002c0003 a0002c0011 a0003c0004 a0004c0007 a0005c0009 a0006c0008 a0007c0006 a0008c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(69): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0010t0003 a0001c0012t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0013 a0002c0002t0016 a0002c0002t0033 a0002c0002t0038 a0002c0002t0042 a0002c0002t0045 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0002c0003t0014 a0002c0003t0021 a0002c0003t0022 a0002c0003t0023 a0002c0003t0035 a0002c0003t0044 a0002c0003t0046 a0002c0003t0047 a0002c0003t0048 a0002c0003t0049 a0002c0003t0050 a0002c0011t0001 a0003c0004t0001 a0003c0004t0003 a0004c0007t0001 a0005c0009t0003 a0006c0008t0002 a0007c0006t0004 a0008c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(261): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0199 a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0247 a0001c0001t0003g0002 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0024 a0001c0001t0003g0063 a0001c0001t0003g0080 a0001c0001t0003g0092 a0001c0001t0003g0110 a0001c0001t0003g0119 a0001c0001t0003g0186 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0221 a0001c0001t0003g0229 a0001c0001t0003g0238 a0001c0001t0004g0032 a0001c0001t0004g0061 a0001c0001t0004g0070 a0001c0001t0004g0074 a0001c0001t0004g0216 a0001c0001t0004g0241 a0001c0001t0005g0062 a0001c0001t0005g0068 a0001c0001t0005g0099 a0001c0001t0005g0188 a0001c0001t0005g0191 a0001c0001t0005g0234 a0001c0001t0005g0242 a0001c0001t0005g0244 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0006g0001 a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0023 a0001c0001t0006g0038 a0001c0001t0006g0064 a0001c0001t0006g0195 a0001c0001t0006g0215 a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0007g0008 a0001c0001t0007g0064 a0001c0001t0007g0104 a0001c0001t0007g0202 a0001c0001t0008g0084 a0001c0001t0008g0088 a0001c0001t0008g0093 a0001c0001t0008g0206 a0001c0001t0008g0218 a0001c0001t0009g0034 a0001c0001t0009g0078 a0001c0001t0009g0085 a0001c0001t0009g0089 a0001c0001t0010g0236 a0001c0001t0011g0029 a0001c0001t0011g0189 a0001c0001t0012g0002 a0001c0001t0012g0020 a0001c0001t0012g0207 a0001c0001t0014g0217 a0001c0001t0017g0069 a0001c0001t0017g0190 a0001c0001t0018g0227 a0001c0001t0019g0002 a0001c0001t0020g0002 a0001c0001t0025g0248 a0001c0001t0026g0013 a0001c0001t0027g0002 a0001c0001t0028g0076 a0001c0001t0029g0246 a0001c0001t0031g0077 a0001c0001t0032g0187 a0001c0001t0034g0117 a0001c0001t0036g0005 a0001c0001t0037g0008 a0001c0001t0039g0226 a0001c0001t0040g0001 a0001c0001t0043g0069 a0001c0010t0003g0024 a0001c0012t0002g0003 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0028 a0002c0002t0001g0051 a0002c0002t0001g0152 a0002c0002t0001g0158 a0002c0002t0001g0168 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0002g0003 a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0052 a0002c0002t0002g0056 a0002c0002t0002g0160 a0002c0002t0003g0154 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0004g0022 a0002c0002t0004g0049 a0002c0002t0004g0050 a0002c0002t0004g0155 a0002c0002t0004g0157 a0002c0002t0004g0164 a0002c0002t0004g0165 a0002c0002t0005g0159 a0002c0002t0006g0053 a0002c0002t0007g0057 a0002c0002t0007g0059 a0002c0002t0007g0123 a0002c0002t0007g0169 a0002c0002t0013g0156 a0002c0002t0016g0058 a0002c0002t0033g0176 a0002c0002t0038g0177 a0002c0002t0042g0011 a0002c0002t0045g0153 a0002c0003t0001g0021 a0002c0003t0001g0026 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0048 a0002c0003t0001g0082 a0002c0003t0001g0126 a0002c0003t0001g0147 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0095 a0002c0003t0002g0121 a0002c0003t0002g0127 a0002c0003t0002g0129 a0002c0003t0002g0132 a0002c0003t0002g0138 a0002c0003t0002g0143 a0002c0003t0002g0149 a0002c0003t0002g0193 a0002c0003t0003g0020 a0002c0003t0003g0042 a0002c0003t0003g0083 a0002c0003t0003g0118 a0002c0003t0004g0124 a0002c0003t0004g0133 a0002c0003t0004g0134 a0002c0003t0004g0146 a0002c0003t0005g0044 a0002c0003t0005g0045 a0002c0003t0005g0072 a0002c0003t0005g0130 a0002c0003t0005g0142 a0002c0003t0005g0145 a0002c0003t0007g0021 a0002c0003t0008g0120 a0002c0003t0008g0128 a0002c0003t0008g0135 a0002c0003t0008g0140 a0002c0003t0008g0144 a0002c0003t0010g0043 a0002c0003t0010g0125 a0002c0003t0010g0141 a0002c0003t0010g0150 a0002c0003t0014g0137 a0002c0003t0021g0131 a0002c0003t0022g0043 a0002c0003t0023g0136 a0002c0003t0035g0148 a0002c0003t0044g0007 a0002c0003t0046g0007 a0002c0003t0047g0151 a0002c0003t0048g0007 a0002c0003t0049g0139 a0002c0003t0050g0179 a0002c0011t0001g0011 a0003c0004t0001g0026 a0003c0004t0003g0020 a0004c0007t0001g0225 a0005c0009t0003g0198 a0006c0008t0002g0251 a0007c0006t0004g0219 a0008c0005t0001g0014	423	454	0.9317	-135	c.643 others(17): Show c.643+2082_643+2216del		LDLRAD2	ENSG00000187942.12	transcript	ENST00000344642.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
LDLRAD4_chr18_13213760_13657751	13573255	CCACCACG others(128): Show CCACCACGCCCCACTAATTTTTGTATTTTTAGTAGAGATGAAGTTTTGCC TTGTAGGCCAGGGTGGTCTCGAACTCCTGGCCTCAGGTGTTCTGCCCACC TCGGCCTCCCAAAGTGCTGGGATTACAGGTACCCAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02559.hp1 others(4): Show HG01884.hp2 HG02257.hp1 HG02559.hp1 HG02630.hp2 HG02717.hp1 HG03130.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0018 a0001c0001t0021 others(3): Show a0001c0001t0005 a0001c0001t0018 a0001c0001t0021 a0001c0001t0042 a0001c0001t0046 a0001c0002t0014	a0001c0001t0005g0177 a0001c0001t0018g0075 a0001c0001t0021g0150 others(4): Show a0001c0001t0005g0177 a0001c0001t0018g0075 a0001c0001t0021g0150 a0001c0001t0042g0120 a0001c0001t0046g0078 a0001c0002t0014g0052 a0001c0002t0014g0123	7	178	0.0393	-135	c.182 others(19): Show c.182-47800_182-47666del		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579052	GAGAGGGA others(128): Show GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	384	0.0026	-135	c.794 others(17): Show c.794-2362_794-2228del		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9						chr18	TogoVar
LMF2_chr22_50497949_50512702	50504096	ACCCCCCC others(128): Show ACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCA CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00639.hp2 others(25): Show HG00099.hp2 HG00438.hp1 HG00639.hp2 HG01070.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp1 HG01496.hp1 HG01928.hp2 HG02040.hp2 HG02145.hp1 HG02451.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03942.hp2 HG04199.hp2 NA18952.hp2 NA18957.hp2 NA19067.hp2 NA19240.hp1 NA20805.hp1	a0002 a0011 a0002 a0011	a0002c0004 a0002c0008 a0002c0031 others(2): Show a0002c0004 a0002c0008 a0002c0031 a0002c0032 a0011c0036	a0002c0004t0001 a0002c0004t0007 a0002c0008t0001 others(3): Show a0002c0004t0001 a0002c0004t0007 a0002c0008t0001 a0002c0031t0001 a0002c0032t0001 a0011c0036t0001	a0002c0004t0001g0001 a0002c0004t0007g0146 a0002c0008t0001g0015 others(3): Show a0002c0004t0001g0001 a0002c0004t0007g0146 a0002c0008t0001g0015 a0002c0031t0001g0169 a0002c0032t0001g0170 a0011c0036t0001g0192	28	414	0.0676	-135	c.171 others(17): Show c.1718+109_1719-193del		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMLN_chr3_197955217_198048720	198040758	CCTCCTAT others(128): Show CCTCCTATTCCTCCATGGCATTGTAACCACAACCCTCGGACAGACTCCTC CTATTCCTCCATGGCATTGTAACCACAACCCTCGGACAGACTCCTCCTAT TCCTCCATGGCATTGTAACCACAACCCTCGGACAGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0032 a0002c0002t0044g0032	1	258	0.0039	-135	c.21 others(11): Show c.2186_*2320del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	17/17				2186	INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188785356	TATATATT others(128): Show TATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCA TATATATATATTCCATCATATATATATTCCATCATATATATATATTCCAT CATATATATATATTCCATCATATATATATATTCATC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0049 a0002c0007t0007g0049	1	76	0.0132	-135	c.141 others(21): Show c.1410+25081_1410+25215del		LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150658509	CCCTCTCC others(128): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTGCCTCTCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	180	0.0056	-135	c.592 others(21): Show c.5921+24907_5921+25041del		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56						chr4	TogoVar
LRRTM4_chr2_76742685_77527376	77307857	TCTATATA others(128): Show TCTATATATTATAGAAATATAAATATATAGATATATCTATATATTATAGA AATATAAATATATAGATATATCTATATATTATAGAAATATAAATATATAG ATATATCTATATATTATAGAAATATAAATATATAGA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19065.hp2 HG03486.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0085 a0001c0001t0001g0106	2	128	0.0156	-135	c.155 others(23): Show c.1551+210326_1551+210460del		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
MADCAM1_chr19_491486_510343	492835	CCCGCCTC others(128): Show CCCGCCTCGGCCTCCCAAAGTGCTCGGATTACAGGCGCCCGCCACCACGC CTGGCTAATCTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	364	0.0028	-135	c.-36 others(11): Show c.-3664_-3530del		MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding					3650		chr19	TogoVar
MARK4_chr19_45246271_45310284	45291463	TGGCAAAA others(128): Show TGGCAAAATCCCATCTGTACAAAAAATACAAAAATTAGGGCCAGGCGCGG TGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0069 a0001c0001t0001g0070	2	260	0.0077	-135	c.149 others(19): Show c.1495-2883_1495-2749del		MARK4	ENSG00000007047.16	transcript	ENST00000262891.9	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
MCF2L_chr13_112964214_113104742	113025558	AGTCTCTG others(128): Show AGTCTCTGGGAGGTTTCATCATGGTGGGGTCCCCGTGACTGTGGGTCGGG GCAGAGTCCCTGTGAGGTTTCCCCATTGTGGGGTCCCTGCAACTATGGGA TGAGGCAGAGTCCCTGTGAGATTTCCCTGTCATGGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01993.hp1 others(6): Show HG01070.hp1 HG01071.hp1 HG01993.hp1 HG02273.hp2 HG02486.hp1 HG03195.hp2 HG03490.hp1 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0006t0002 a0001c0006t0009	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0082 a0001c0001t0006g0027 a0001c0006t0002g0029 a0001c0006t0009g0028	9	116	0.0776	-135	c.278 others(15): Show c.278+804_278+938del		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MEGF9_chr9_120595811_120719470	120634438	TGGAATAT others(128): Show TGGAATATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02109.hp1 others(16): Show HG00639.hp1 HG01891.hp1 HG02109.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp2 HG06807.hp1 NA19240.hp2 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0012 a0003c0003t0003 a0003c0003t0005 others(4): Show a0002c0002t0012 a0003c0003t0003 a0003c0003t0005 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0003c0003t0027	a0002c0002t0012g0285 a0002c0002t0012g0286 a0002c0002t0012g0287 others(16): Show a0002c0002t0012g0285 a0002c0002t0012g0286 a0002c0002t0012g0287 a0003c0003t0003g0140 a0003c0003t0003g0141 a0003c0003t0003g0142 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0146 a0003c0003t0003g0147 a0003c0003t0003g0159 a0003c0003t0005g0160 a0003c0003t0005g0161 a0003c0003t0005g0162 a0003c0003t0017g0149 a0003c0003t0018g0157 a0003c0003t0019g0148 a0003c0003t0027g0158	19	290	0.0655	-135	c.804 others(19): Show c.804-11818_804-11684del		MEGF9	ENSG00000106780.9	transcript	ENST00000373930.4	protein_coding	2/5						chr9	TogoVar
MEI1_chr22_41694503_41804454	41788572	TTGGGATT others(128): Show TTGGGATTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTA GTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCCAAC CTTAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	260	0.0039	-135	c.334 others(19): Show c.3345+3806_3345+3940del		MEI1	ENSG00000167077.13	transcript	ENST00000401548.8	protein_coding	26/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
MEIKIN_chr5_131801990_131950663	131849356	GAACCTCT others(128): Show GAACCTCTTTTCTTTATATATATAAAGAAACCTCTTTTCTTTATATATAT AAAGAAACCTCTTTTCTTTATATATATAAAGAAACCTCTTTTCTTTATAT ATATAAAGAAACCTCTTTTCTTTATATATATAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03579.hp2 NA18522.hp2 HG03225.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0002g0014 a0001c0001t0003g0106 a0001c0003t0001g0314 a0001c0001t0002g0014 a0001c0001t0003g0106 a0001c0003t0001g0314	3	346	0.0087	-135	c.975 others(17): Show c.975+1773_975+1907del		MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	11/12						chr5	TogoVar
MGAM_chr7_141990879_142111747	142043512	ATAATATC others(128): Show ATAATATCTAAATATAATATGAATTATATAGATATATCTAAATATATATA TTATATATACATATGATATCTAAATATATAATATATACATATAATATCTA ATATATAATACATATATTATATATACATATACTATC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0030 a0030	a0030c0131 a0030c0131	a0030c0131t0001 a0030c0131t0001	a0030c0131t0001g0178 a0030c0131t0001g0178	1	316	0.0032	-135	c.249 others(19): Show c.2498+2673_2498+2807del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MICAL3_chr22_17782649_18029561	17877329	GTTATGGA others(128): Show GTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGA TTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0020 a0020	a0020c0060 a0020c0060	a0020c0060t0001 a0020c0060t0001	a0020c0060t0001g0141 a0020c0060t0001g0141	1	274	0.0037	-135	c.224 others(19): Show c.2242-5441_2242-5307del		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MIER2_chr19_300573_349796	302775	ATCAGACA others(128): Show ATCAGACACCTCAATACACCAAAGCACATTCTCATCAGACACCTCAATAC ACCAAAGCACATCCTCATCAGACTCAATACACCAAAGCACATCCTCATCA GACTCCTCAATACACCAAAGCACATCCTCATCAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	384	0.0026	-135	c.37 others(11): Show c.3780_*3914del		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding					2797		chr19	TogoVar
MKRN1_chr7_140448033_140484505	140470333	TCAGCACT others(128): Show TCAGCACTTTGGGAAGCCGAACCGCGTGGATCACCTGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAA AAATTAGCTAGGTGTGGTGGCGGGCGCCTGTAATCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	434	0.0023	-135	c.314 others(17): Show c.314+1415_314+1549del		MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	2/7						chr7	TogoVar
MLPH_chr2_237482251_237560322	237543975	GGGGACAG others(128): Show GGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGT GGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0090 a0002c0008t0001g0090	1	286	0.0035	-135	c.153 others(19): Show c.1539+1320_1539+1454del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MON1B_chr16_77186190_77207398	77203724	AGCTGGGA others(128): Show AGCTGGGATTACAGGCGTGCATCAACATGTCCGGCTAATTTTTGTATTTT TAGTAGAGTTGGGGTTTTGCCACGTTGGCCAAGCTGGTCTCGAACTCCTG ACCTCAGATGATCCACCCTCGTCGGCCTCCCAAAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0067 a0001c0001t0083g0067	1	440	0.0023	-135	c.54 others(11): Show c.5417_*5551del		MON1B	ENSG00000103111.15	transcript	ENST00000248248.8	protein_coding					1327		chr16	TogoVar
MTMR1_chrX_150688396_150770108	150760096	TCTCCCTC others(128): Show TCTCCCTCCATTGTGCTACACAGAAGAGAGAACCAAAAAAGAGTACATGG GCCGCAGCTTGTTATCCTGTATGCAACAGGCATGTGTCGGACACCTCCTA GGTGTGGGAATGGGGGTGGGGGAGTGCATTGAAGAC	T T	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	270	0.0037	-135	c.185 others(19): Show c.1858-2468_1858-2334del		MTMR1	ENSG00000063601.17	transcript	ENST00000445323.7	protein_coding	15/15						chrX	TogoVar
MUC4_chr3_195741771_195816929	195776925	TCATACCT others(128): Show TCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACATCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACC	T T	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	249	0.0040	-135	c.129 others(21): Show c.12943+1243_12943+1377del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MYOM2_chr8_2040046_2150456	2085998	AGTCGTGA others(128): Show AGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGG CCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0091 a0091	a0091c0064 a0091c0064	a0091c0064t0001 a0091c0064t0001	a0091c0064t0001g0070 a0091c0064t0001g0070	1	403	0.0025	-135	c.164 others(17): Show c.1644+621_1644+755del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086312	AGTCGTGA others(128): Show AGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCTC CCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGG CCTCCCACTGTTGTGATCTCTGCGTGGCCCCCTACT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp1 HG03098.hp2 others(1): Show HG02559.hp2 HG02895.hp1 HG03098.hp2 HG03471.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0044 a0002c0006t0001g0117 a0002c0006t0001g0118 others(1): Show a0002c0006t0001g0044 a0002c0006t0001g0117 a0002c0006t0001g0118 a0002c0006t0001g0140	4	403	0.0099	-135	c.164 others(18): Show c.1644+934_1644+1068del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086353	CGTGGCCT others(128): Show CGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTTGTGATC TCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCCCCTACTGTCGT GATCTCCACGTGGCCACACACTGTCATGATCTCTGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0194 a0006c0194	a0006c0194t0001 a0006c0194t0001	a0006c0194t0001g0400 a0006c0194t0001g0400	1	403	0.0025	-135	c.164 others(18): Show c.1644+970_1644+1104del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086369	TGTGATCT others(128): Show TGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCA CTGTTGTGATCTCTGCGTGGCCCCCTACTGTCGTGATCTCCACGTGGCCA CACACTGTCATGATCTCTGTGTGGCCCCCCACTGTC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0011 a0011	a0011c0178 a0011c0178	a0011c0178t0001 a0011c0178t0001	a0011c0178t0001g0086 a0011c0178t0001g0086	1	403	0.0025	-135	c.164 others(18): Show c.1644+997_1644+1131del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPH2_chr22_50503224_50529780	50504096	ACCCCCCC others(128): Show ACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCA CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00639.hp1 others(23): Show HG00099.hp1 HG00438.hp1 HG00639.hp1 HG01070.hp1 HG01168.hp1 HG01175.hp2 HG01255.hp1 HG01496.hp2 HG01928.hp1 HG02145.hp1 HG02451.hp2 HG03098.hp1 HG03139.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA19055.hp1 NA19067.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0103 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0103 a0001c0001t0001g0147 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0002g0009 a0001c0001t0002g0023 a0001c0001t0002g0037 a0001c0001t0002g0156 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0218 a0001c0001t0011g0225 a0001c0001t0013g0198	26	384	0.0677	-135	c.-42 others(11): Show c.-4241_-4107del		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					4127		chr22	TogoVar
NKX1-1_chr4_1397932_1411442	1398148	GGTAGATC others(128): Show GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01109.hp2 HG02300.hp2 HG00609.hp1 HG01109.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	3	382	0.0079	-135	c.46 others(11): Show c.4649_*4783del		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4783		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398283	AGTAGATC others(128): Show AGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 NA20905.hp2 HG01167.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	2	382	0.0052	-135	c.45 others(11): Show c.4514_*4648del		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4648		chr4	TogoVar
NOC4L_chr12_132139457_132157468	132148989	TGCCGCCG others(128): Show TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0075 a0001c0024t0001g0075	1	294	0.0034	-135	c.901 others(15): Show c.901+101_901+235del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOX1_chrX_100838324_100879359	100853528	GTAGCTAA others(128): Show GTAGCTAAAACTACAGGCATGCACCACCACACCTGGCGAATTTTTGCATT TTCAGTAGAGATGGGGATTCACCATGCTGGCCAGGCTGGTCTGGAACTGC TGGCCTCGAATGATCCACCTGCCTCAGCCTCCCAAT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19079.hp1 HG02738.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0184 a0001c0001t0001g0118 a0001c0001t0001g0184	2	302	0.0066	-135	c.805 others(17): Show c.805-2338_805-2204del		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar

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