Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLMAP_chr3_57751309_57935003	57924934	G G	GTGTTTTT GTGTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01257.hp2 HG01358.hp2 others(26): Show HG01175.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG02056.hp2 HG02132.hp1 HG02145.hp2 HG02698.hp2 HG02735.hp2 HG03195.hp1 HG03239.hp2 HG03688.hp2 HG03834.hp1 HG04184.hp1 NA18940.hp1 NA18943.hp2 NA18947.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA19005.hp2 NA19007.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19078.hp1 NA19079.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 others(3): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0027 a0001c0001t0036	a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0081 others(26): Show a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0013g0077 a0001c0001t0013g0078 a0001c0001t0013g0079 a0001c0001t0013g0097 a0001c0001t0014g0083 a0001c0001t0014g0098 a0001c0001t0014g0103 a0001c0001t0020g0099 a0001c0001t0027g0246 a0001c0001t0036g0200	29	308	0.0942	7	c.244 others(24): Show c.2446-888_2446-882dupGTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLN_chr11_107702378_107717056	107714501	T T	TAAAAAAA TAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG02027.hp2 HG02080.hp2 others(32): Show HG01257.hp1 HG02027.hp2 HG02080.hp2 HG02109.hp1 HG02486.hp2 HG02572.hp2 HG02698.hp2 HG02717.hp2 HG02965.hp1 HG03130.hp2 HG03486.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18945.hp2 NA18954.hp1 NA18962.hp1 NA18963.hp2 NA18971.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA19003.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0021 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0034	35	296	0.1182	7	c.-26 others(18): Show c.-2621_-2615dupTTTTTTT	SLN	ENSG00000170290.4	transcript	ENST00000305991.3	protein_coding		2446		chr11	TogoVar
SLPI_chr20_45247239_45259564	45258285	T T	TTAGATAG TTAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00639.hp2 others(69): Show HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01975.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02132.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp2 HG02622.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18940.hp1 NA18942.hp2 NA18945.hp2 NA18952.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18986.hp1 NA18988.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19066.hp2 NA19076.hp1 NA19080.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0003g0044 a0002c0002t0001g0025	72	137	0.5255	7	c.-37 others(18): Show c.-3743_-3742insCTATCTA	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3722		chr20	TogoVar
SLU7_chr5_160396641_160424081	160412523	T T	TAAAAAAA TAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00408.hp2 HG00609.hp1 others(77): Show HG00140.hp2 HG00408.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02559.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG03098.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18942.hp2 NA18945.hp1 NA18953.hp2 NA18959.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18999.hp2 NA19068.hp1 NA19074.hp1 NA19088.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 others(2): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017	a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0014 others(30): Show a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0038 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0103 a0001c0001t0003g0116 a0001c0001t0003g0123 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0167 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0010g0075 a0001c0001t0012g0179 a0001c0001t0012g0180 a0001c0001t0015g0150 a0001c0001t0017g0183	80	271	0.2952	7	c.571 others(19): Show c.571-11_571-5dupTTTTTTT	SLU7	ENSG00000164609.10	transcript	ENST00000297151.9	protein_coding	5/15			chr5	TogoVar
SLX1B_chr16_29449533_29463219	29451065	A A	ATATATAT ATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02559.hp1 HG03579.hp1 others(8): Show HG01255.hp2 HG02559.hp1 HG03579.hp1 NA18967.hp1 NA18973.hp2 NA18984.hp2 NA18995.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0002c0002t0001g0011 a0001c0001t0001g0006 a0001c0001t0001g0015 a0002c0002t0001g0011	11	130	0.0846	7	c.-36 others(18): Show c.-3678_-3677insTATATAT	SLX1B	ENSG00000181625.18	transcript	ENST00000330181.10	protein_coding		3467		chr16	TogoVar
SLX4IP_chr20_10430305_10633030	10493859	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01099.hp1 others(51): Show HG00099.hp2 HG00621.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03516.hp1 HG03654.hp1 HG04228.hp1 NA18906.hp2 NA18943.hp2 NA18946.hp1 NA18951.hp1 NA18964.hp2 NA18969.hp2 NA18977.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19068.hp1 NA20752.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0011 a0003c0003 others(1): Show a0001c0001 a0001c0011 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0030 a0001c0001t0034 a0001c0001t0043 a0001c0001t0045 a0001c0001t0057 a0001c0011t0010 a0003c0003t0019 a0004c0004t0027 a0004c0004t0054	a0001c0001t0001g0213 a0001c0001t0001g0237 a0001c0001t0002g0003 others(51): Show a0001c0001t0001g0213 a0001c0001t0001g0237 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0035 a0001c0001t0002g0078 a0001c0001t0002g0123 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0251 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0003g0134 a0001c0001t0004g0125 a0001c0001t0004g0181 a0001c0001t0006g0045 a0001c0001t0006g0047 a0001c0001t0006g0049 a0001c0001t0006g0053 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0008g0122 a0001c0001t0009g0161 a0001c0001t0010g0096 a0001c0001t0010g0097 a0001c0001t0010g0176 a0001c0001t0010g0184 a0001c0001t0012g0238 a0001c0001t0015g0260 a0001c0001t0020g0020 a0001c0001t0023g0031 a0001c0001t0025g0245 a0001c0001t0025g0246 a0001c0001t0030g0056 a0001c0001t0034g0054 a0001c0001t0043g0099 a0001c0001t0045g0072 a0001c0001t0057g0124 a0001c0011t0010g0224 a0003c0003t0019g0008 a0004c0004t0027g0042 a0004c0004t0054g0209	54	149	0.3624	7	c.27+ others(24): Show c.27+35644_27+35650dupTTTTTTT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD2_chr18_47803957_47935659	47850462	A A	ATATAATG ATATAATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(81): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00642.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp2 NA19088.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(67): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0038 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0001t0094 a0001c0001t0095 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0111 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0122 a0001c0001t0123 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0138 a0001c0001t0140 a0001c0001t0143 a0001c0001t0146 a0001c0001t0173 a0001c0001t0182 a0001c0001t0183 a0001c0001t0247	a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0252 others(81): Show a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0300 a0001c0001t0005g0262 a0001c0001t0005g0269 a0001c0001t0005g0286 a0001c0001t0013g0221 a0001c0001t0013g0229 a0001c0001t0015g0246 a0001c0001t0015g0268 a0001c0001t0016g0292 a0001c0001t0017g0199 a0001c0001t0017g0289 a0001c0001t0018g0176 a0001c0001t0018g0272 a0001c0001t0019g0284 a0001c0001t0020g0220 a0001c0001t0022g0271 a0001c0001t0023g0202 a0001c0001t0023g0207 a0001c0001t0024g0182 a0001c0001t0024g0186 a0001c0001t0038g0264 a0001c0001t0045g0248 a0001c0001t0049g0251 a0001c0001t0050g0241 a0001c0001t0051g0194 a0001c0001t0052g0217 a0001c0001t0070g0181 a0001c0001t0071g0185 a0001c0001t0072g0216 a0001c0001t0073g0290 a0001c0001t0074g0285 a0001c0001t0075g0086 a0001c0001t0076g0281 a0001c0001t0077g0282 a0001c0001t0078g0256 a0001c0001t0079g0237 a0001c0001t0081g0270 a0001c0001t0082g0260 a0001c0001t0083g0274 a0001c0001t0084g0219 a0001c0001t0085g0240 a0001c0001t0086g0257 a0001c0001t0087g0196 a0001c0001t0088g0198 a0001c0001t0090g0263 a0001c0001t0091g0297 a0001c0001t0094g0261 a0001c0001t0095g0250 a0001c0001t0098g0279 a0001c0001t0099g0238 a0001c0001t0100g0295 a0001c0001t0101g0177 a0001c0001t0102g0277 a0001c0001t0103g0255 a0001c0001t0111g0226 a0001c0001t0115g0184 a0001c0001t0116g0180 a0001c0001t0117g0215 a0001c0001t0118g0298 a0001c0001t0119g0193 a0001c0001t0120g0192 a0001c0001t0122g0218 a0001c0001t0123g0301 a0001c0001t0129g0203 a0001c0001t0130g0178 a0001c0001t0131g0183 a0001c0001t0132g0179 a0001c0001t0133g0187 a0001c0001t0134g0259 a0001c0001t0135g0267 a0001c0001t0138g0188 a0001c0001t0140g0291 a0001c0001t0143g0200 a0001c0001t0146g0278 a0001c0001t0173g0283 a0001c0001t0182g0214 a0001c0001t0183g0213 a0001c0001t0247g0308	84	226	0.3717	7	c.784 others(22): Show c.784+811_784+812insCATTATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850462	A A	ATATTATG ATATTATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02922.hp2 others(7): Show HG00741.hp2 HG01243.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03471.hp2 HG03491.hp1 HG04115.hp1 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0020 a0001c0001t0109 others(6): Show a0001c0001t0006 a0001c0001t0020 a0001c0001t0109 a0001c0001t0121 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0144	a0001c0001t0006g0210 a0001c0001t0006g0232 a0001c0001t0020g0233 others(7): Show a0001c0001t0006g0210 a0001c0001t0006g0232 a0001c0001t0020g0233 a0001c0001t0109g0234 a0001c0001t0121g0225 a0001c0001t0125g0230 a0001c0001t0126g0231 a0001c0001t0127g0224 a0001c0001t0128g0235 a0001c0001t0144g0287	10	152	0.0658	7	c.784 others(22): Show c.784+811_784+812insCATAATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67150847	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01346.hp2 others(4): Show HG01109.hp2 HG01243.hp2 HG01346.hp2 HG01943.hp1 HG03710.hp1 NA19060.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0131 a0001c0001t0001g0265 a0001c0001t0002g0149 others(4): Show a0001c0001t0001g0131 a0001c0001t0001g0265 a0001c0001t0002g0149 a0001c0001t0003g0252 a0001c0001t0003g0261 a0001c0001t0004g0307 a0001c0001t0011g0142	7	49	0.1429	7	c.207 others(26): Show c.207-14028_207-14022dupTTTTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183000	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18612.hp2 NA19066.hp2 HG02630.hp2 NA18612.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015	a0001c0001t0003g0006 a0001c0001t0013g0209 a0001c0001t0015g0029 a0001c0001t0003g0006 a0001c0001t0013g0209 a0001c0001t0015g0029	3	175	0.0171	7	c.871 others(24): Show c.871+1547_871+1548insTATATAT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8			chr15	TogoVar
SMAD4_chr18_51025213_51090042	51062851	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG02040.hp2 others(6): Show HG00735.hp2 HG01192.hp1 HG02040.hp2 HG02572.hp1 HG02895.hp2 HG02897.hp1 HG03453.hp2 NA18995.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0034 a0001c0001t0037	a0001c0001t0002g0039 a0001c0001t0002g0075 a0001c0001t0003g0041 others(5): Show a0001c0001t0002g0039 a0001c0001t0002g0075 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0069 a0001c0001t0018g0012 a0001c0001t0034g0070 a0001c0001t0037g0034	9	132	0.0682	7	c.956 others(24): Show c.956-2554_956-2548dupTTTTTTT	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD5_chr5_136127845_136187733	136183496	C C	CAAAAAAA CAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00597.hp2 others(23): Show HG00323.hp1 HG00423.hp2 HG00597.hp2 HG00673.hp2 HG01517.hp1 HG01928.hp1 HG02056.hp1 HG02135.hp2 HG02559.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03209.hp2 HG03831.hp2 NA18941.hp2 NA18945.hp2 NA18953.hp2 NA18957.hp1 NA18962.hp2 NA18979.hp1 NA18981.hp1 NA19002.hp2 NA19057.hp1 NA19080.hp2 NA19087.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0020 a0001c0001t0002 a0001c0001t0018 a0001c0001t0020	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(19): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0018g0015 a0001c0001t0020g0117	26	138	0.1884	7	c.60 others(18): Show c.6016_*6017insAAAAAAA	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding		764		chr5	TogoVar
SMAD6_chr15_66697236_66787849	66766207	G G	GGGGGGCA GGGGGGCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00621.hp1 others(29): Show HG00438.hp1 HG00438.hp2 HG00621.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02647.hp2 HG02723.hp1 HG03516.hp1 HG04115.hp1 NA18522.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18977.hp1 NA18981.hp2 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19077.hp2 NA19085.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 others(2): Show a0001c0001 a0001c0002 a0001c0016 a0001c0017 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0023 a0001c0002t0024 a0001c0016t0032 a0001c0017t0008 a0001c0019t0006	a0001c0001t0001g0018 a0001c0001t0001g0097 a0001c0001t0001g0180 others(27): Show a0001c0001t0001g0018 a0001c0001t0001g0097 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0312 a0001c0001t0003g0249 a0001c0001t0006g0045 a0001c0001t0017g0174 a0001c0001t0018g0036 a0001c0002t0008g0006 a0001c0002t0008g0094 a0001c0002t0008g0103 a0001c0002t0008g0118 a0001c0002t0008g0130 a0001c0002t0008g0131 a0001c0002t0008g0146 a0001c0002t0008g0152 a0001c0002t0008g0153 a0001c0002t0011g0023 a0001c0002t0011g0054 a0001c0002t0011g0079 a0001c0002t0013g0008 a0001c0002t0013g0217 a0001c0002t0013g0236 a0001c0002t0023g0099 a0001c0002t0024g0020 a0001c0016t0032g0273 a0001c0017t0008g0111 a0001c0019t0006g0055	32	334	0.0958	7	c.953 others(26): Show c.953-14780_953-14774dupGGGCAGG	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD9_chr13_36839831_36925238	36843366	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02055.hp1 others(29): Show HG01243.hp1 HG01243.hp2 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG03834.hp1 HG06807.hp1 NA18940.hp1 NA18947.hp2 NA18961.hp1 NA18978.hp2 NA18988.hp1 NA18994.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19063.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(9): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0001t0027 a0001c0001t0041 a0001c0001t0046 a0001c0001t0053 a0001c0001t0064 a0001c0001t0075	a0001c0001t0004g0092 a0001c0001t0004g0102 a0001c0001t0004g0108 others(29): Show a0001c0001t0004g0092 a0001c0001t0004g0102 a0001c0001t0004g0108 a0001c0001t0004g0130 a0001c0001t0006g0024 a0001c0001t0006g0026 a0001c0001t0006g0037 a0001c0001t0006g0051 a0001c0001t0006g0061 a0001c0001t0006g0083 a0001c0001t0007g0123 a0001c0001t0007g0140 a0001c0001t0007g0168 a0001c0001t0007g0174 a0001c0001t0007g0177 a0001c0001t0007g0210 a0001c0001t0007g0211 a0001c0001t0007g0217 a0001c0001t0009g0267 a0001c0001t0012g0172 a0001c0001t0012g0189 a0001c0001t0012g0214 a0001c0001t0021g0160 a0001c0001t0021g0179 a0001c0001t0021g0180 a0001c0001t0027g0339 a0001c0001t0027g0340 a0001c0001t0041g0012 a0001c0001t0046g0039 a0001c0001t0053g0182 a0001c0001t0064g0221 a0001c0001t0075g0277	32	268	0.1194	7	c.53 others(18): Show c.5309_*5310insAAAAAAA	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding		1464		chr13	TogoVar
SMAGP_chr12_51239558_51275415	51269931	G G	GCCCGCGC GCCCGCGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp1 others(48): Show HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG03195.hp1 HG03453.hp1 NA18747.hp1 NA18940.hp2 NA18946.hp2 NA18949.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18975.hp2 NA18979.hp1 NA18988.hp1 NA18990.hp2 NA18995.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp1 NA19076.hp1 NA19078.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0310 others(43): Show a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0003g0004 a0001c0001t0003g0312 a0001c0001t0003g0316 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0331 a0001c0001t0003g0336 a0001c0001t0003g0339 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0345 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0016g0350	51	408	0.1250	7	c.-39 others(22): Show c.-39+318_-39+324dupGCGCGGG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	1/3			chr12	TogoVar
SMAP1_chr6_70662883_70867003	70763106	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02055.hp1 HG02080.hp2 others(10): Show HG00597.hp1 HG02055.hp1 HG02080.hp2 HG02258.hp2 HG02602.hp2 HG02738.hp1 HG02976.hp1 HG03130.hp2 HG03486.hp1 HG03831.hp1 HG03942.hp1 NA19000.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015	a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0140 others(10): Show a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0007g0177 a0001c0001t0008g0131 a0001c0001t0015g0129	13	85	0.1529	7	c.338 others(24): Show c.338+8059_338+8065dupTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP2_chr1_40368727_40428322	40380529	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(187): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19240.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0005t0001 a0002c0004t0004 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(145): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0002g0013 a0001c0001t0002g0032 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0005g0019 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0151 a0001c0005t0001g0097 a0001c0005t0001g0098 a0001c0005t0001g0099 a0002c0004t0004g0026 a0002c0004t0004g0160 a0002c0004t0004g0161 a0003c0006t0001g0284 a0003c0006t0001g0285	190	200	0.9500	7	c.103 others(24): Show c.103+6311_103+6317dupTTTTTTT	SMAP2	ENSG00000084070.12	transcript	ENST00000372718.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMARCA1_chrX_129441506_129528490	129500123	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG03098.hp1 others(4): Show HG02647.hp1 HG03041.hp2 HG03098.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0092 a0001c0001t0001g0093 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096	7	236	0.0297	7	c.116 others(24): Show c.1168-289_1168-283dupTTTTTTT	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24			chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2014596	C C	CTATTTTT CTATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(190): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0017	a0001c0001 a0001c0003 a0001c0008 others(46): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0016 a0001c0037 a0001c0040 a0001c0042 a0001c0043 a0001c0051 a0001c0058 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0023 a0002c0027 a0002c0035 a0002c0036 a0002c0047 a0002c0048 a0003c0006 a0003c0007 a0003c0012 a0003c0013 a0003c0029 a0003c0030 a0003c0056 a0004c0011 a0004c0014 a0004c0017 a0004c0024 a0004c0026 a0004c0049 a0005c0020 a0005c0021 a0005c0059 a0005c0060 a0006c0018 a0006c0028 a0006c0052 a0007c0015 a0007c0064 a0008c0022 a0009c0032 a0010c0044 a0012c0068 a0014c0065 a0017c0054	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(73): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0011 a0001c0008t0002 a0001c0008t0004 a0001c0009t0001 a0001c0016t0001 a0001c0016t0012 a0001c0037t0001 a0001c0040t0001 a0001c0042t0001 a0001c0043t0001 a0001c0051t0001 a0001c0058t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0016 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0005t0014 a0002c0010t0001 a0002c0010t0002 a0002c0023t0001 a0002c0027t0001 a0002c0035t0001 a0002c0036t0001 a0002c0047t0001 a0002c0048t0001 a0003c0006t0001 a0003c0006t0002 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0003c0007t0018 a0003c0012t0001 a0003c0012t0002 a0003c0012t0010 a0003c0013t0001 a0003c0029t0001 a0003c0030t0001 a0003c0056t0003 a0004c0011t0001 a0004c0011t0017 a0004c0014t0001 a0004c0014t0002 a0004c0014t0003 a0004c0017t0002 a0004c0017t0003 a0004c0024t0001 a0004c0026t0002 a0004c0026t0003 a0004c0049t0001 a0005c0020t0001 a0005c0021t0002 a0005c0059t0002 a0005c0060t0001 a0006c0018t0001 a0006c0018t0002 a0006c0028t0001 a0006c0052t0002 a0007c0015t0001 a0007c0015t0002 a0007c0064t0002 a0008c0022t0001 a0009c0032t0007 a0010c0044t0002 a0012c0068t0002 a0014c0065t0001 a0017c0054t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0040 others(190): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0001g0265 a0001c0001t0002g0035 a0001c0001t0002g0120 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0279 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0004g0194 a0001c0001t0013g0316 a0001c0003t0001g0066 a0001c0003t0001g0070 a0001c0003t0001g0079 a0001c0003t0001g0085 a0001c0003t0001g0132 a0001c0003t0001g0153 a0001c0003t0001g0190 a0001c0003t0001g0238 a0001c0003t0001g0262 a0001c0003t0001g0307 a0001c0003t0002g0267 a0001c0003t0002g0271 a0001c0003t0002g0277 a0001c0003t0002g0311 a0001c0003t0005g0128 a0001c0003t0005g0189 a0001c0003t0006g0143 a0001c0003t0011g0266 a0001c0008t0002g0116 a0001c0008t0002g0227 a0001c0008t0002g0247 a0001c0008t0002g0290 a0001c0008t0002g0295 a0001c0008t0004g0223 a0001c0008t0004g0224 a0001c0009t0001g0002 a0001c0009t0001g0041 a0001c0009t0001g0042 a0001c0009t0001g0221 a0001c0016t0001g0281 a0001c0016t0001g0282 a0001c0016t0012g0283 a0001c0037t0001g0017 a0001c0040t0001g0019 a0001c0042t0001g0044 a0001c0043t0001g0090 a0001c0051t0001g0242 a0001c0058t0001g0135 a0002c0002t0001g0012 a0002c0002t0001g0032 a0002c0002t0001g0081 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0108 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0130 a0002c0002t0001g0142 a0002c0002t0001g0240 a0002c0002t0001g0301 a0002c0002t0002g0117 a0002c0002t0002g0208 a0002c0002t0002g0218 a0002c0002t0016g0158 a0002c0004t0001g0037 a0002c0004t0001g0043 a0002c0004t0001g0050 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0061 a0002c0004t0001g0062 a0002c0004t0001g0063 a0002c0004t0001g0065 a0002c0005t0001g0068 a0002c0005t0001g0133 a0002c0005t0001g0145 a0002c0005t0001g0149 a0002c0005t0001g0261 a0002c0005t0001g0308 a0002c0005t0001g0313 a0002c0005t0002g0016 a0002c0005t0002g0021 a0002c0005t0002g0245 a0002c0005t0002g0278 a0002c0005t0014g0312 a0002c0010t0001g0137 a0002c0010t0001g0138 a0002c0010t0002g0209 a0002c0010t0002g0259 a0002c0010t0002g0268 a0002c0010t0002g0269 a0002c0023t0001g0013 a0002c0027t0001g0309 a0002c0035t0001g0047 a0002c0036t0001g0028 a0002c0047t0001g0141 a0002c0048t0001g0253 a0003c0006t0001g0072 a0003c0006t0001g0103 a0003c0006t0001g0146 a0003c0006t0001g0202 a0003c0006t0001g0233 a0003c0006t0002g0210 a0003c0006t0002g0215 a0003c0006t0002g0226 a0003c0006t0002g0310 a0003c0007t0001g0067 a0003c0007t0001g0193 a0003c0007t0001g0198 a0003c0007t0002g0250 a0003c0007t0002g0270 a0003c0007t0002g0273 a0003c0007t0002g0276 a0003c0007t0003g0264 a0003c0007t0018g0127 a0003c0012t0001g0263 a0003c0012t0002g0292 a0003c0012t0010g0212 a0003c0013t0001g0003 a0003c0013t0001g0039 a0003c0013t0001g0051 a0003c0029t0001g0315 a0003c0030t0001g0284 a0003c0056t0003g0104 a0004c0011t0001g0101 a0004c0011t0001g0107 a0004c0011t0001g0180 a0004c0011t0017g0129 a0004c0014t0001g0078 a0004c0014t0001g0199 a0004c0014t0002g0023 a0004c0014t0003g0255 a0004c0017t0002g0022 a0004c0017t0003g0131 a0004c0024t0001g0049 a0004c0024t0001g0052 a0004c0026t0002g0118 a0004c0026t0003g0256 a0004c0049t0001g0122 a0005c0020t0001g0069 a0005c0020t0001g0257 a0005c0021t0002g0024 a0005c0021t0002g0235 a0005c0059t0002g0258 a0005c0060t0001g0306 a0006c0018t0001g0178 a0006c0018t0002g0246 a0006c0028t0001g0234 a0006c0052t0002g0244 a0007c0015t0001g0237 a0007c0015t0002g0275 a0007c0015t0002g0286 a0007c0064t0002g0260 a0008c0022t0001g0025 a0009c0032t0007g0222 a0010c0044t0002g0274 a0012c0068t0002g0291 a0014c0065t0001g0140 a0017c0054t0001g0099	193	314	0.6147	7	c.-84 others(16): Show c.-845_-844insTATTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding		750		chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2088879	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp1 HG02258.hp2 others(8): Show HG01175.hp2 HG01891.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02818.hp1 HG03098.hp1 HG03195.hp2 NA18522.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0003 a0002c0005 a0002c0023 others(4): Show a0001c0003 a0002c0005 a0002c0023 a0003c0007 a0004c0014 a0005c0031 a0008c0022	a0001c0003t0001 a0001c0003t0002 a0002c0005t0001 others(7): Show a0001c0003t0001 a0001c0003t0002 a0002c0005t0001 a0002c0005t0002 a0002c0023t0001 a0003c0007t0001 a0004c0014t0002 a0004c0014t0003 a0005c0031t0001 a0008c0022t0001	a0001c0003t0001g0190 a0001c0003t0002g0248 a0001c0003t0002g0267 others(8): Show a0001c0003t0001g0190 a0001c0003t0002g0248 a0001c0003t0002g0267 a0002c0005t0001g0254 a0002c0005t0002g0278 a0002c0023t0001g0013 a0003c0007t0001g0193 a0004c0014t0002g0023 a0004c0014t0003g0255 a0005c0031t0001g0314 a0008c0022t0001g0115	11	182	0.0604	7	c.288 others(24): Show c.2883+275_2883+281dupTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11001659	T T	TGACCCTC TGACCCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp2 HG01981.hp1 others(14): Show HG01255.hp1 HG01516.hp2 HG01981.hp1 HG02071.hp2 HG02135.hp2 HG02559.hp1 HG02630.hp1 HG02698.hp2 HG02735.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0007 others(6): Show a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0012 a0001c0015 a0001c0028 a0001c0031 a0002c0013	a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 others(6): Show a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0009t0001 a0001c0012t0001 a0001c0015t0001 a0001c0028t0001 a0001c0031t0001 a0002c0013t0001	a0001c0002t0001g0208 a0001c0003t0001g0006 a0001c0007t0001g0017 others(14): Show a0001c0002t0001g0208 a0001c0003t0001g0006 a0001c0007t0001g0017 a0001c0007t0001g0018 a0001c0007t0001g0019 a0001c0007t0001g0021 a0001c0009t0001g0001 a0001c0009t0001g0002 a0001c0009t0001g0003 a0001c0012t0001g0013 a0001c0012t0001g0015 a0001c0015t0001g0022 a0001c0015t0001g0023 a0001c0028t0001g0007 a0001c0031t0001g0008 a0002c0013t0001g0016 a0002c0013t0001g0020	17	284	0.0599	7	c.181 others(26): Show c.1813-1370_1813-1369insGACCCTC	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	11/34			chr19	TogoVar
SMARCA5_chr4_143508702_143562486	143512996	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00558.hp2 others(78): Show HG00099.hp1 HG00140.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01516.hp1 HG01884.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02132.hp1 HG02155.hp2 HG02300.hp1 HG02559.hp2 HG02647.hp1 HG02738.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18942.hp1 NA18947.hp2 NA18948.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18978.hp2 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19076.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19091.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0003c0012	a0001c0002t0001 a0001c0002t0006 a0001c0002t0023 others(13): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0023 a0001c0003t0003 a0001c0003t0007 a0001c0003t0013 a0001c0003t0022 a0001c0003t0025 a0001c0003t0026 a0001c0003t0027 a0001c0003t0028 a0001c0003t0035 a0001c0005t0003 a0001c0005t0029 a0001c0008t0001 a0003c0012t0003	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 others(49): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0139 a0001c0002t0001g0146 a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0006g0014 a0001c0002t0023g0002 a0001c0003t0003g0001 a0001c0003t0003g0018 a0001c0003t0003g0049 a0001c0003t0003g0050 a0001c0003t0003g0051 a0001c0003t0003g0052 a0001c0003t0003g0053 a0001c0003t0003g0056 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0003g0196 a0001c0003t0003g0198 a0001c0003t0003g0199 a0001c0003t0003g0201 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0208 a0001c0003t0003g0211 a0001c0003t0003g0213 a0001c0003t0003g0214 a0001c0003t0003g0216 a0001c0003t0003g0217 a0001c0003t0003g0219 a0001c0003t0003g0221 a0001c0003t0007g0016 a0001c0003t0007g0187 a0001c0003t0007g0188 a0001c0003t0013g0017 a0001c0003t0022g0001 a0001c0003t0025g0215 a0001c0003t0026g0018 a0001c0003t0027g0186 a0001c0003t0028g0207 a0001c0003t0035g0200 a0001c0005t0003g0049 a0001c0005t0003g0209 a0001c0005t0029g0210 a0001c0008t0001g0009 a0003c0012t0003g0212	81	235	0.3447	7	c.-92 others(16): Show c.-929_-928insAAAAAAA	SMARCA5	ENSG00000153147.6	transcript	ENST00000283131.4	protein_coding		705		chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94255738	A A	ATTTGATT ATTTGATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(144): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02895.hp1 HG03041.hp1 HG03195.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009 a0006c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0012 a0001c0006t0001 a0001c0009t0013 a0006c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(132): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0006g0002 a0001c0001t0006g0019 a0001c0001t0006g0082 a0001c0001t0010g0002 a0001c0004t0001g0001 a0001c0004t0001g0004 a0001c0004t0001g0008 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0031 a0001c0004t0001g0032 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0049 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0072 a0001c0004t0001g0107 a0001c0004t0001g0108 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0001g0121 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0004t0001g0149 a0001c0004t0004g0037 a0001c0004t0004g0044 a0001c0004t0004g0050 a0001c0004t0004g0051 a0001c0004t0004g0071 a0001c0004t0005g0001 a0001c0004t0005g0055 a0001c0004t0012g0059 a0001c0006t0001g0090 a0001c0006t0001g0105 a0001c0009t0013g0093 a0006c0008t0001g0066	147	320	0.4594	7	c.128 others(26): Show c.1281+2735_1281+2741dupGATTTTT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCB1_chr22_23781966_23843009	23797000	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02132.hp2 HG02630.hp1 others(7): Show HG02074.hp1 HG02132.hp2 HG02630.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG06807.hp2 NA18962.hp2 NA19068.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0001t0019 a0001c0001t0030 others(1): Show a0001c0001t0010 a0001c0001t0019 a0001c0001t0030 a0001c0005t0010	a0001c0001t0010g0311 a0001c0001t0010g0313 a0001c0001t0010g0314 others(6): Show a0001c0001t0010g0311 a0001c0001t0010g0313 a0001c0001t0010g0314 a0001c0001t0010g0315 a0001c0001t0010g0316 a0001c0001t0010g0317 a0001c0001t0019g0018 a0001c0001t0030g0312 a0001c0005t0010g0310	10	306	0.0327	7	c.362 others(24): Show c.362+3323_362+3329dupTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47604699	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01169.hp1 HG02015.hp2 others(11): Show HG00280.hp1 HG01169.hp1 HG02015.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 a0005c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0189 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0008g0205 a0001c0002t0002g0103 a0005c0010t0001g0005	14	34	0.4118	7	c.304 others(26): Show c.3043+5360_3043+5366dupAAAAAAA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	ACAACAAC ACAACAAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0180 a0001c0001t0001g0181	2	121	0.0165	7	c.184 others(24): Show c.1840-480_1840-479insGTTGTTG	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47708084	T T	TTTTTTTC TTTTTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp2 HG01109.hp2 others(22): Show HG00621.hp1 HG01074.hp2 HG01109.hp2 HG01169.hp2 HG01255.hp1 HG01346.hp2 HG01978.hp1 HG02055.hp2 HG02071.hp2 HG02258.hp1 HG02698.hp1 HG02738.hp1 HG02965.hp2 HG03471.hp1 HG03942.hp1 HG04115.hp2 NA18522.hp1 NA18941.hp2 NA18961.hp1 NA18970.hp2 NA18972.hp1 NA18998.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0003c0006 a0006c0008	a0001c0001t0002 a0001c0002t0002 a0001c0009t0002 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0009t0002 a0003c0006t0002 a0006c0008t0002	a0001c0001t0002g0003 a0001c0001t0002g0097 a0001c0001t0002g0099 others(22): Show a0001c0001t0002g0003 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0138 a0001c0001t0002g0157 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0002g0184 a0001c0002t0002g0085 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0150 a0001c0002t0002g0160 a0001c0002t0002g0166 a0001c0009t0002g0088 a0003c0006t0002g0002 a0006c0008t0002g0086	25	217	0.1152	7	c.919 others(24): Show c.919-1555_919-1554insGAAAAAA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	9/27			chr3	TogoVar
SMC1B_chr22_45339063_45418599	45362599	C C	CAACTCAA CAACTCAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18612.hp2 NA18947.hp2 others(1): Show HG02129.hp1 NA18612.hp2 NA18947.hp2 NA19082.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0196 a0003c0003t0001g0202 a0003c0003t0001g0246 others(1): Show a0003c0003t0001g0196 a0003c0003t0001g0202 a0003c0003t0001g0246 a0003c0003t0001g0247	4	358	0.0112	7	c.256 others(24): Show c.2562+279_2562+285dupTTGAGTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	16/24			chr22	TogoVar
SMC1B_chr22_45339063_45418599	45372716	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01943.hp1 others(15): Show HG00621.hp2 HG00673.hp1 HG01943.hp1 HG02486.hp1 HG02647.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03098.hp2 HG03209.hp1 HG03831.hp1 HG06807.hp2 NA18952.hp2 NA18963.hp1 NA18975.hp1 NA21309.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0007	a0001c0002 a0001c0004 a0001c0008 others(5): Show a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0003c0003 a0005c0006 a0006c0009 a0007c0011	a0001c0002t0001 a0001c0004t0003 a0001c0008t0003 others(5): Show a0001c0002t0001 a0001c0004t0003 a0001c0008t0003 a0001c0010t0001 a0003c0003t0001 a0005c0006t0001 a0006c0009t0001 a0007c0011t0001	a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0052 others(14): Show a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0052 a0001c0002t0001g0240 a0001c0004t0003g0291 a0001c0008t0003g0309 a0001c0010t0001g0045 a0001c0010t0001g0046 a0001c0010t0001g0047 a0001c0010t0001g0048 a0003c0003t0001g0245 a0003c0003t0001g0258 a0003c0003t0001g0275 a0005c0006t0001g0157 a0006c0009t0001g0061 a0007c0011t0001g0027 a0007c0011t0001g0049	18	117	0.1538	7	c.205 others(24): Show c.2059-431_2059-425dupAAAAAAA	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	12/24			chr22	TogoVar
SMC1B_chr22_45339063_45418599	45409609	T T	TAAATAAA TAAATAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02165.hp1 NA19079.hp2 HG01952.hp1 HG02165.hp1 NA19079.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0019 a0001c0004t0003g0020 a0001c0004t0003g0297 a0001c0004t0003g0019 a0001c0004t0003g0020 a0001c0004t0003g0297	3	249	0.0120	7	c.110 others(22): Show c.110-712_110-711insTTTATTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	1/24			chr22	TogoVar
SMC2_chr9_104089309_104146419	104094525	T T	TGGCGGGA TGGCGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG03130.hp2 HG02622.hp2 HG02818.hp2 HG03130.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0006 a0001c0003 a0005c0006	a0001c0003t0003 a0005c0006t0011 a0001c0003t0003 a0005c0006t0011	a0001c0003t0003g0037 a0005c0006t0011g0038 a0005c0006t0011g0039 a0001c0003t0003g0037 a0005c0006t0011g0038 a0005c0006t0011g0039	3	148	0.0203	7	c.-62 others(20): Show c.-62+69_-62+75dupAGGCGGG	SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC3_chr10_110562695_110611048	110594107	C C	CATTTGGT CATTTGGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(304): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.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 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0003 a0001c0002t0006 a0001c0004t0001 a0001c0006t0001 a0001c0007t0004 a0002c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(218): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0065 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0001t0003g0211 a0001c0001t0003g0214 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0004g0167 a0001c0001t0005g0016 a0001c0001t0005g0183 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0007g0004 a0001c0001t0007g0020 a0001c0001t0007g0076 a0001c0001t0007g0078 a0001c0001t0007g0165 a0001c0001t0008g0001 a0001c0001t0009g0193 a0001c0001t0009g0215 a0001c0001t0010g0026 a0001c0001t0010g0184 a0001c0001t0011g0057 a0001c0001t0011g0058 a0001c0001t0012g0020 a0001c0001t0013g0198 a0001c0001t0014g0166 a0001c0001t0015g0202 a0001c0001t0016g0048 a0001c0001t0017g0197 a0001c0001t0019g0013 a0001c0001t0020g0117 a0001c0001t0021g0025 a0001c0001t0022g0150 a0001c0001t0023g0213 a0001c0001t0024g0022 a0001c0001t0025g0019 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0178 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0228 a0001c0002t0006g0199 a0001c0002t0006g0200 a0001c0002t0006g0201 a0001c0002t0006g0207 a0001c0002t0006g0208 a0001c0002t0006g0212 a0001c0004t0001g0010 a0001c0004t0001g0062 a0001c0006t0001g0003 a0001c0007t0004g0005 a0002c0005t0002g0006	307	326	0.9417	7	c.196 others(24): Show c.1963+886_1963+887insTTGGTAT	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
SMC3_chr10_110562695_110611048	110607292	C C	CAAAAAAA CAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG00741.hp2 others(36): Show HG00609.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01433.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 NA18522.hp1 NA18940.hp2 NA18972.hp1 NA19003.hp1 NA19062.hp2 NA19082.hp2 NA19083.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0002t0003 a0001c0002t0006 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0003g0012 a0001c0001t0003g0169 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0012g0020 a0001c0001t0017g0197 a0001c0002t0003g0029 a0001c0002t0003g0178 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0228 a0001c0002t0006g0199 a0001c0002t0006g0200 a0001c0002t0006g0207 a0001c0002t0006g0208 a0001c0002t0006g0212 a0001c0004t0001g0010	39	58	0.6724	7	c.29 others(18): Show c.2990_*2991insAAAAAAA	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding		1245		chr10	TogoVar
SMC4_chr3_160394650_160439953	160399889	A A	ACCCCTCC ACCCCTCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02717.hp2 HG02886.hp2 others(3): Show HG01069.hp2 HG02717.hp2 HG02886.hp2 HG02965.hp1 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048 others(2): Show a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0010g0022 a0001c0001t0010g0045	6	330	0.0182	7	c.-6+ others(20): Show c.-6+147_-6+153dupCCCCCTC	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC5_chr9_70253978_70359873	70309318	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp1 HG01358.hp2 others(4): Show HG00438.hp1 HG01081.hp1 HG01358.hp2 HG01891.hp1 HG02257.hp1 NA18990.hp1 NA19080.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0021 a0005c0007t0002 a0001c0001t0002 a0001c0001t0021 a0005c0007t0002	a0001c0001t0002g0201 a0001c0001t0002g0240 a0001c0001t0002g0241 others(4): Show a0001c0001t0002g0201 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0021g0310 a0005c0007t0002g0267	7	26	0.2692	7	c.157 others(26): Show c.1578+3983_1578+3989dupTTTTTTT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMCHD1_chr18_2650726_2810017	2663721	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG01192.hp2 others(20): Show HG01081.hp1 HG01167.hp1 HG01192.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03942.hp2 NA19043.hp2	a0002 a0004 a0009 others(1): Show a0002 a0004 a0009 a0012	a0002c0001 a0004c0008 a0009c0020 others(1): Show a0002c0001 a0004c0008 a0009c0020 a0012c0021	a0002c0001t0005 a0002c0001t0014 a0002c0001t0017 others(8): Show a0002c0001t0005 a0002c0001t0014 a0002c0001t0017 a0002c0001t0021 a0004c0008t0002 a0004c0008t0007 a0004c0008t0011 a0004c0008t0012 a0004c0008t0036 a0009c0020t0011 a0012c0021t0034	a0002c0001t0005g0005 a0002c0001t0005g0007 a0002c0001t0005g0008 others(20): Show a0002c0001t0005g0005 a0002c0001t0005g0007 a0002c0001t0005g0008 a0002c0001t0005g0009 a0002c0001t0005g0010 a0002c0001t0005g0011 a0002c0001t0005g0012 a0002c0001t0014g0248 a0002c0001t0014g0338 a0002c0001t0017g0006 a0002c0001t0021g0337 a0004c0008t0002g0002 a0004c0008t0007g0222 a0004c0008t0007g0223 a0004c0008t0007g0224 a0004c0008t0011g0249 a0004c0008t0011g0250 a0004c0008t0012g0219 a0004c0008t0012g0220 a0004c0008t0012g0225 a0004c0008t0036g0226 a0009c0020t0011g0221 a0012c0021t0034g0233	23	299	0.0769	7	c.187 others(24): Show c.187-2431_187-2425dupTTTTTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2679480	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(113): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18943.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19006.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19076.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0014 a0015	a0001c0002 a0001c0004 a0001c0005 others(8): Show a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0012 a0002c0001 a0002c0010 a0002c0027 a0008c0023 a0014c0028 a0015c0025	a0001c0002t0001 a0001c0002t0002 a0001c0002t0031 others(17): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0031 a0001c0004t0002 a0001c0005t0002 a0001c0005t0013 a0001c0009t0002 a0001c0012t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0008 a0002c0001t0026 a0002c0001t0027 a0002c0001t0033 a0002c0010t0002 a0002c0010t0019 a0002c0027t0002 a0008c0023t0002 a0014c0028t0002 a0015c0025t0016	a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(112): Show a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0208 a0001c0002t0031g0207 a0001c0004t0002g0175 a0001c0004t0002g0197 a0001c0005t0002g0257 a0001c0005t0002g0266 a0001c0005t0002g0268 a0001c0005t0002g0269 a0001c0005t0002g0279 a0001c0005t0013g0314 a0001c0005t0013g0315 a0001c0009t0002g0019 a0001c0009t0002g0212 a0001c0009t0002g0213 a0001c0009t0002g0215 a0001c0009t0002g0254 a0001c0009t0002g0262 a0001c0009t0002g0320 a0001c0012t0001g0255 a0001c0012t0001g0270 a0002c0001t0001g0325 a0002c0001t0002g0260 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0273 a0002c0001t0002g0274 a0002c0001t0002g0275 a0002c0001t0002g0276 a0002c0001t0002g0277 a0002c0001t0002g0278 a0002c0001t0002g0280 a0002c0001t0002g0284 a0002c0001t0002g0285 a0002c0001t0002g0286 a0002c0001t0002g0288 a0002c0001t0002g0289 a0002c0001t0002g0290 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0294 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0306 a0002c0001t0002g0309 a0002c0001t0002g0311 a0002c0001t0002g0312 a0002c0001t0002g0313 a0002c0001t0002g0316 a0002c0001t0002g0317 a0002c0001t0002g0318 a0002c0001t0002g0319 a0002c0001t0002g0321 a0002c0001t0002g0322 a0002c0001t0002g0323 a0002c0001t0002g0326 a0002c0001t0002g0327 a0002c0001t0002g0328 a0002c0001t0002g0329 a0002c0001t0002g0332 a0002c0001t0008g0001 a0002c0001t0008g0256 a0002c0001t0008g0331 a0002c0001t0026g0307 a0002c0001t0027g0308 a0002c0001t0033g0295 a0002c0010t0002g0013 a0002c0010t0002g0214 a0002c0010t0002g0283 a0002c0010t0002g0293 a0002c0010t0002g0298 a0002c0010t0019g0211 a0002c0027t0002g0258 a0008c0023t0002g0296 a0014c0028t0002g0281 a0015c0025t0016g0194	116	133	0.8722	7	c.638 others(24): Show c.638+5348_638+5354dupAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708908	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG02135.hp2 others(3): Show HG00280.hp2 HG00673.hp1 HG02135.hp2 HG02165.hp2 HG03516.hp1 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0017 a0001c0002t0001g0163 a0001c0002t0001g0182 others(3): Show a0001c0002t0001g0017 a0001c0002t0001g0163 a0001c0002t0001g0182 a0001c0002t0001g0198 a0001c0002t0002g0174 a0001c0002t0002g0178	6	295	0.0203	7	c.226 others(24): Show c.2260+988_2260+989insTATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47			chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2759571	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00609.hp1 others(59): Show HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01516.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02698.hp1 HG02717.hp1 HG02886.hp2 HG02965.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03654.hp2 HG03704.hp1 NA18941.hp2 NA18949.hp1 NA18957.hp2 NA18961.hp1 NA18965.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0004 a0001c0005 others(9): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0015 a0001c0018 a0001c0030 a0002c0006 a0003c0003 a0003c0011 a0003c0031 a0007c0029	a0001c0002t0001 a0001c0002t0037 a0001c0004t0001 others(15): Show a0001c0002t0001 a0001c0002t0037 a0001c0004t0001 a0001c0004t0003 a0001c0004t0022 a0001c0004t0030 a0001c0005t0035 a0001c0007t0003 a0001c0007t0007 a0001c0015t0006 a0001c0018t0001 a0001c0030t0001 a0002c0006t0001 a0002c0006t0015 a0003c0003t0003 a0003c0011t0003 a0003c0031t0003 a0007c0029t0001	a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 others(59): Show a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0037g0122 a0001c0004t0001g0038 a0001c0004t0001g0048 a0001c0004t0001g0050 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0059 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0071 a0001c0004t0001g0073 a0001c0004t0001g0077 a0001c0004t0001g0080 a0001c0004t0001g0091 a0001c0004t0001g0095 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0103 a0001c0004t0001g0112 a0001c0004t0001g0131 a0001c0004t0001g0136 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0153 a0001c0004t0001g0155 a0001c0004t0001g0339 a0001c0004t0003g0089 a0001c0004t0003g0106 a0001c0004t0003g0121 a0001c0004t0022g0060 a0001c0004t0030g0049 a0001c0005t0035g0160 a0001c0007t0003g0239 a0001c0007t0003g0240 a0001c0007t0007g0231 a0001c0015t0006g0303 a0001c0018t0001g0081 a0001c0018t0001g0148 a0001c0030t0001g0069 a0002c0006t0001g0051 a0002c0006t0001g0054 a0002c0006t0001g0055 a0002c0006t0001g0062 a0002c0006t0001g0116 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0125 a0002c0006t0001g0126 a0002c0006t0001g0127 a0002c0006t0001g0130 a0002c0006t0015g0137 a0002c0006t0015g0146 a0003c0003t0003g0072 a0003c0003t0003g0151 a0003c0011t0003g0334 a0003c0031t0003g0070 a0007c0029t0001g0047	62	81	0.7654	7	c.434 others(26): Show c.4347-1071_4347-1065dupTTTTTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	34/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2777515	C C	CCAGCTTT CCAGCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19076.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0008 a0014 a0015	a0001c0002 a0001c0004 a0001c0005 others(13): Show a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0012 a0001c0018 a0001c0030 a0002c0001 a0002c0006 a0002c0010 a0002c0027 a0006c0017 a0007c0029 a0008c0023 a0014c0028 a0015c0025	a0001c0002t0001 a0001c0002t0002 a0001c0002t0031 others(38): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0031 a0001c0002t0032 a0001c0002t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0022 a0001c0004t0030 a0001c0005t0002 a0001c0005t0004 a0001c0005t0013 a0001c0005t0018 a0001c0005t0028 a0001c0005t0035 a0001c0009t0002 a0001c0012t0001 a0001c0012t0016 a0001c0012t0020 a0001c0018t0001 a0001c0030t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0008 a0002c0001t0014 a0002c0001t0021 a0002c0001t0026 a0002c0001t0027 a0002c0001t0033 a0002c0006t0001 a0002c0006t0015 a0002c0010t0002 a0002c0010t0019 a0002c0027t0002 a0006c0017t0002 a0006c0017t0013 a0007c0029t0001 a0008c0023t0002 a0014c0028t0002 a0015c0025t0016	a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(227): Show a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0002t0001g0333 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0208 a0001c0002t0031g0207 a0001c0002t0032g0181 a0001c0002t0037g0122 a0001c0004t0001g0038 a0001c0004t0001g0046 a0001c0004t0001g0048 a0001c0004t0001g0050 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0059 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0071 a0001c0004t0001g0073 a0001c0004t0001g0077 a0001c0004t0001g0080 a0001c0004t0001g0085 a0001c0004t0001g0091 a0001c0004t0001g0095 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0103 a0001c0004t0001g0112 a0001c0004t0001g0114 a0001c0004t0001g0115 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0004t0001g0131 a0001c0004t0001g0132 a0001c0004t0001g0136 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0210 a0001c0004t0001g0339 a0001c0004t0002g0175 a0001c0004t0002g0197 a0001c0004t0003g0089 a0001c0004t0003g0106 a0001c0004t0003g0121 a0001c0004t0022g0060 a0001c0004t0030g0049 a0001c0005t0002g0257 a0001c0005t0002g0266 a0001c0005t0002g0267 a0001c0005t0002g0268 a0001c0005t0002g0269 a0001c0005t0002g0279 a0001c0005t0004g0023 a0001c0005t0004g0024 a0001c0005t0004g0025 a0001c0005t0004g0026 a0001c0005t0004g0027 a0001c0005t0004g0028 a0001c0005t0004g0029 a0001c0005t0004g0030 a0001c0005t0004g0032 a0001c0005t0004g0034 a0001c0005t0004g0241 a0001c0005t0004g0242 a0001c0005t0004g0243 a0001c0005t0004g0244 a0001c0005t0004g0245 a0001c0005t0004g0246 a0001c0005t0004g0247 a0001c0005t0013g0314 a0001c0005t0013g0315 a0001c0005t0018g0031 a0001c0005t0028g0261 a0001c0005t0035g0160 a0001c0009t0002g0019 a0001c0009t0002g0212 a0001c0009t0002g0213 a0001c0009t0002g0215 a0001c0009t0002g0254 a0001c0009t0002g0262 a0001c0009t0002g0320 a0001c0012t0001g0255 a0001c0012t0001g0270 a0001c0012t0016g0021 a0001c0012t0020g0022 a0001c0018t0001g0081 a0001c0018t0001g0148 a0001c0030t0001g0069 a0002c0001t0001g0325 a0002c0001t0002g0259 a0002c0001t0002g0260 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0271 a0002c0001t0002g0273 a0002c0001t0002g0274 a0002c0001t0002g0275 a0002c0001t0002g0276 a0002c0001t0002g0277 a0002c0001t0002g0278 a0002c0001t0002g0280 a0002c0001t0002g0282 a0002c0001t0002g0284 a0002c0001t0002g0285 a0002c0001t0002g0286 a0002c0001t0002g0287 a0002c0001t0002g0288 a0002c0001t0002g0289 a0002c0001t0002g0290 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0294 a0002c0001t0002g0297 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0302 a0002c0001t0002g0306 a0002c0001t0002g0309 a0002c0001t0002g0311 a0002c0001t0002g0312 a0002c0001t0002g0313 a0002c0001t0002g0316 a0002c0001t0002g0317 a0002c0001t0002g0318 a0002c0001t0002g0319 a0002c0001t0002g0321 a0002c0001t0002g0322 a0002c0001t0002g0323 a0002c0001t0002g0326 a0002c0001t0002g0327 a0002c0001t0002g0328 a0002c0001t0002g0329 a0002c0001t0002g0330 a0002c0001t0002g0332 a0002c0001t0008g0001 a0002c0001t0008g0256 a0002c0001t0008g0331 a0002c0001t0014g0248 a0002c0001t0014g0338 a0002c0001t0021g0337 a0002c0001t0026g0307 a0002c0001t0027g0308 a0002c0001t0033g0295 a0002c0006t0001g0051 a0002c0006t0001g0054 a0002c0006t0001g0055 a0002c0006t0001g0062 a0002c0006t0001g0116 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0125 a0002c0006t0001g0126 a0002c0006t0001g0127 a0002c0006t0001g0130 a0002c0006t0015g0137 a0002c0006t0015g0146 a0002c0010t0002g0013 a0002c0010t0002g0214 a0002c0010t0002g0283 a0002c0010t0002g0293 a0002c0010t0002g0298 a0002c0010t0019g0211 a0002c0027t0002g0258 a0006c0017t0002g0310 a0006c0017t0013g0324 a0007c0029t0001g0047 a0008c0023t0002g0296 a0014c0028t0002g0281 a0015c0025t0016g0194	231	338	0.6834	7	c.536 others(24): Show c.5367-291_5367-290insCAGCTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	42/47			chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2785670	A A	AAAAAAAG AAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(24): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01978.hp1 HG02055.hp2 HG02145.hp1 HG02735.hp1 HG03041.hp2 HG03239.hp2 HG03579.hp1 HG03710.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18972.hp2 NA18974.hp2 NA19003.hp1 NA19058.hp1 NA19062.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0032 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0032 a0001c0004t0002	a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 others(24): Show a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0164 a0001c0002t0001g0177 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0208 a0001c0002t0032g0181 a0001c0004t0002g0175	27	35	0.7714	7	c.571 others(26): Show c.5719+1050_5719+1051insAAAAAGA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO2_chr12_27441736_27507185	27477634	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03239.hp2 HG03688.hp2 others(5): Show HG02080.hp1 HG03239.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 NA18990.hp2 NA20129.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0013 a0002c0003 a0003c0013	a0002c0003t0001 a0002c0003t0003 a0003c0013t0006 a0002c0003t0001 a0002c0003t0003 a0003c0013t0006	a0002c0003t0001g0251 a0002c0003t0003g0022 a0002c0003t0003g0130 others(4): Show a0002c0003t0001g0251 a0002c0003t0003g0022 a0002c0003t0003g0130 a0002c0003t0003g0142 a0002c0003t0003g0146 a0002c0003t0003g0152 a0003c0013t0006g0050	8	168	0.0476	7	c.512 others(24): Show c.512+1913_512+1919dupTTTTTTT	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMCO2_chr12_27441736_27507185	27507137	G G	GAATTGAA GAATTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02717.hp2 others(6): Show HG02055.hp1 HG02258.hp2 HG02717.hp2 HG02895.hp1 HG02965.hp1 HG03471.hp2 HG03516.hp1 NA19240.hp1 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0023 a0003c0004t0005g0032 a0003c0004t0005g0252 others(4): Show a0003c0004t0005g0023 a0003c0004t0005g0032 a0003c0004t0005g0252 a0003c0004t0005g0253 a0003c0004t0005g0254 a0003c0004t0005g0255 a0003c0004t0005g0256	9	358	0.0251	7	c.50 others(18): Show c.5016_*5017insAATTGAA	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding		4953		chr12	TogoVar
SMG1_chr16_18799860_18931408	18831770	A A	ATACATAT ATACATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp1 HG03453.hp2 HG02451.hp1 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0019 a0001c0004t0004g0020 a0001c0004t0004g0026 a0001c0004t0004g0019 a0001c0004t0004g0020 a0001c0004t0004g0026	3	202	0.0149	7	c.879 others(26): Show c.8792+1169_8792+1170insATATGTA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	51/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2114954	A A	AATAAAAT AATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00597.hp2 others(55): Show HG00099.hp2 HG00140.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02698.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 NA18948.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18983.hp2 NA18995.hp1 NA19011.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0002 a0003 a0005 others(5): Show a0002 a0003 a0005 a0006 a0008 a0009 a0013 a0015	a0002c0002 a0003c0003 a0005c0013 others(7): Show a0002c0002 a0003c0003 a0005c0013 a0006c0005 a0006c0025 a0006c0032 a0008c0009 a0009c0008 a0013c0033 a0015c0027	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(20): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0015 a0003c0003t0017 a0003c0003t0019 a0005c0013t0001 a0005c0013t0002 a0006c0005t0001 a0006c0005t0004 a0006c0005t0006 a0006c0005t0007 a0006c0005t0011 a0006c0005t0013 a0006c0025t0011 a0006c0032t0007 a0008c0009t0001 a0009c0008t0003 a0009c0008t0009 a0013c0033t0002 a0015c0027t0005	a0002c0002t0001g0014 a0002c0002t0001g0031 a0002c0002t0001g0095 others(55): Show a0002c0002t0001g0014 a0002c0002t0001g0031 a0002c0002t0001g0095 a0002c0002t0002g0045 a0003c0003t0001g0001 a0003c0003t0001g0136 a0003c0003t0001g0138 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0165 a0003c0003t0001g0169 a0003c0003t0001g0172 a0003c0003t0001g0175 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0226 a0003c0003t0002g0142 a0003c0003t0002g0147 a0003c0003t0002g0171 a0003c0003t0002g0174 a0003c0003t0002g0180 a0003c0003t0002g0183 a0003c0003t0005g0170 a0003c0003t0005g0177 a0003c0003t0015g0179 a0003c0003t0017g0184 a0003c0003t0019g0173 a0005c0013t0001g0007 a0005c0013t0002g0010 a0006c0005t0001g0111 a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0007g0113 a0006c0005t0007g0114 a0006c0005t0007g0115 a0006c0005t0007g0117 a0006c0005t0011g0124 a0006c0005t0013g0120 a0006c0025t0011g0112 a0006c0032t0007g0123 a0008c0009t0001g0187 a0008c0009t0001g0188 a0008c0009t0001g0189 a0009c0008t0003g0222 a0009c0008t0009g0224 a0013c0033t0002g0098 a0015c0027t0005g0221	58	151	0.3841	7	c.335 others(28): Show c.3358-29054_3358-29053insATTTTAT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2145643	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03486.hp2 HG03579.hp2 others(3): Show HG02145.hp2 HG03486.hp2 HG03579.hp2 HG03669.hp2 HG04204.hp2 NA18522.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001	a0002c0002t0001g0050 a0002c0002t0002g0049 a0004c0004t0001g0052 others(3): Show a0002c0002t0001g0050 a0002c0002t0002g0049 a0004c0004t0001g0052 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0058	6	127	0.0472	7	c.335 others(28): Show c.3357+27008_3357+27014dupTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2242689	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG02015.hp2 others(6): Show HG00621.hp1 HG00642.hp1 HG02015.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG03704.hp2 NA18975.hp1 NA19011.hp1	a0006 a0012 a0016 a0006 a0012 a0016	a0006c0005 a0012c0021 a0016c0014 a0006c0005 a0012c0021 a0016c0014	a0006c0005t0001 a0006c0005t0004 a0006c0005t0006 others(4): Show a0006c0005t0001 a0006c0005t0004 a0006c0005t0006 a0006c0005t0011 a0006c0005t0013 a0012c0021t0012 a0016c0014t0012	a0006c0005t0001g0111 a0006c0005t0004g0119 a0006c0005t0004g0121 others(6): Show a0006c0005t0001g0111 a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0011g0122 a0006c0005t0013g0118 a0006c0005t0013g0120 a0012c0021t0012g0220 a0016c0014t0012g0135	9	42	0.2143	7	c.272 others(26): Show c.2723+1962_2723+1968dupTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	9/18			chr17	TogoVar
SMG7_chr1_183467499_183559191	183515676	A A	AACCAGAC AACCAGAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG01168.hp2 others(17): Show HG00408.hp1 HG00423.hp1 HG01168.hp2 HG01243.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG03654.hp2 HG03834.hp2 NA18951.hp2 NA18956.hp2 NA18983.hp2 NA19012.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp2 NA19074.hp1 NA19082.hp1 NA19086.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0018 others(14): Show a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0018 a0003c0003t0001g0118 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0130 a0003c0003t0001g0136 a0003c0003t0001g0138 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0147 a0003c0003t0001g0149 a0003c0003t0001g0181	20	358	0.0559	7	c.62- others(20): Show c.62-197_62-191dupACCAGAC	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM10L1_chr12_11166194_11181016	11177472	T T	TGGCGGGG TGGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG03195.hp1 HG03486.hp2 others(7): Show HG02165.hp2 HG03195.hp1 HG03486.hp2 HG04204.hp1 NA18943.hp1 NA18951.hp2 NA18975.hp1 NA19057.hp2 NA19066.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0019 a0001c0002t0003 a0001c0002t0019	a0001c0002t0003g0000 a0001c0002t0019g0000 a0001c0002t0003g0000 a0001c0002t0019g0000	10	257	0.0389	7	c.59 others(18): Show c.5909_*5910insGGCGGGG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		1457		chr12	TogoVar
SMIM10_chrX_134985991_134997473	134986639	T T	TTTCTTTC TTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 NA18957.hp2 HG00423.hp1 HG00673.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	3	169	0.0178	7	c.-44 others(18): Show c.-4457_-4456insTTCTTTC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4351		chrX	TogoVar

Search by Variant

Search

Search Results