JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
FAM135B_chr8_138125023_138502261	138153220	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(156): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0003 a0001c0004 a0001c0005 others(26): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0022 a0001c0023 a0002c0002 a0002c0008 a0002c0019 a0002c0028 a0002c0029 a0003c0001 a0003c0021 a0004c0009 a0005c0011 a0006c0012 a0007c0032 a0008c0016 a0009c0026 a0010c0027 a0011c0024 a0012c0025 a0013c0031	a0001c0003t0003 a0001c0003t0010 a0001c0003t0018 others(58): Show a0001c0003t0003 a0001c0003t0010 a0001c0003t0018 a0001c0003t0038 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0008 a0001c0004t0011 a0001c0004t0012 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0026 a0001c0005t0036 a0001c0006t0001 a0001c0006t0002 a0001c0006t0005 a0001c0006t0011 a0001c0006t0015 a0001c0006t0029 a0001c0007t0001 a0001c0007t0003 a0001c0007t0004 a0001c0007t0040 a0001c0010t0011 a0001c0010t0034 a0001c0013t0002 a0001c0015t0008 a0001c0017t0002 a0001c0018t0002 a0001c0022t0003 a0001c0023t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0012 a0002c0002t0020 a0002c0002t0024 a0002c0002t0032 a0002c0002t0037 a0002c0008t0001 a0002c0019t0015 a0002c0028t0003 a0002c0029t0001 a0003c0001t0004 a0003c0001t0022 a0003c0021t0033 a0004c0009t0002 a0004c0009t0008 a0005c0011t0016 a0006c0012t0002 a0007c0032t0005 a0008c0016t0008 a0009c0026t0001 a0010c0027t0001 a0011c0024t0001 a0012c0025t0002 a0013c0031t0002	a0001c0003t0003g0016 a0001c0003t0003g0023 a0001c0003t0003g0026 others(156): Show a0001c0003t0003g0016 a0001c0003t0003g0023 a0001c0003t0003g0026 a0001c0003t0003g0033 a0001c0003t0003g0040 a0001c0003t0003g0056 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0074 a0001c0003t0003g0077 a0001c0003t0003g0083 a0001c0003t0003g0085 a0001c0003t0003g0105 a0001c0003t0003g0110 a0001c0003t0010g0195 a0001c0003t0010g0205 a0001c0003t0010g0206 a0001c0003t0010g0208 a0001c0003t0018g0168 a0001c0003t0018g0178 a0001c0003t0038g0207 a0001c0004t0001g0021 a0001c0004t0001g0030 a0001c0004t0001g0034 a0001c0004t0001g0050 a0001c0004t0001g0071 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0095 a0001c0004t0001g0101 a0001c0004t0001g0106 a0001c0004t0002g0147 a0001c0004t0002g0150 a0001c0004t0002g0156 a0001c0004t0002g0165 a0001c0004t0002g0181 a0001c0004t0002g0182 a0001c0004t0005g0203 a0001c0004t0008g0128 a0001c0004t0011g0119 a0001c0004t0012g0121 a0001c0005t0001g0052 a0001c0005t0001g0057 a0001c0005t0001g0069 a0001c0005t0001g0090 a0001c0005t0002g0136 a0001c0005t0002g0141 a0001c0005t0002g0151 a0001c0005t0002g0157 a0001c0005t0002g0160 a0001c0005t0002g0179 a0001c0005t0005g0188 a0001c0005t0005g0192 a0001c0005t0005g0200 a0001c0005t0005g0210 a0001c0005t0026g0120 a0001c0005t0036g0186 a0001c0006t0001g0005 a0001c0006t0001g0045 a0001c0006t0002g0133 a0001c0006t0002g0152 a0001c0006t0002g0159 a0001c0006t0002g0183 a0001c0006t0005g0187 a0001c0006t0005g0211 a0001c0006t0011g0117 a0001c0006t0015g0114 a0001c0006t0029g0123 a0001c0007t0001g0047 a0001c0007t0003g0044 a0001c0007t0003g0054 a0001c0007t0003g0065 a0001c0007t0004g0068 a0001c0007t0040g0191 a0001c0010t0011g0118 a0001c0010t0034g0163 a0001c0013t0002g0137 a0001c0015t0008g0129 a0001c0017t0002g0146 a0001c0018t0002g0148 a0001c0022t0003g0011 a0001c0023t0003g0042 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0094 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0102 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0002g0132 a0002c0002t0002g0167 a0002c0002t0005g0194 a0002c0002t0005g0197 a0002c0002t0005g0202 a0002c0002t0005g0204 a0002c0002t0005g0209 a0002c0002t0006g0135 a0002c0002t0009g0164 a0002c0002t0012g0122 a0002c0002t0012g0124 a0002c0002t0020g0189 a0002c0002t0024g0111 a0002c0002t0032g0134 a0002c0002t0037g0201 a0002c0008t0001g0004 a0002c0008t0001g0031 a0002c0008t0001g0043 a0002c0008t0001g0087 a0002c0008t0001g0107 a0002c0019t0015g0112 a0002c0028t0003g0097 a0002c0029t0001g0010 a0003c0001t0004g0035 a0003c0001t0004g0062 a0003c0001t0022g0001 a0003c0021t0033g0143 a0004c0009t0002g0142 a0004c0009t0002g0145 a0004c0009t0008g0130 a0005c0011t0016g0139 a0005c0011t0016g0144 a0006c0012t0002g0170 a0007c0032t0005g0193 a0008c0016t0008g0127 a0009c0026t0001g0072 a0010c0027t0001g0079 a0011c0024t0001g0014 a0012c0025t0002g0131 a0013c0031t0002g0166	159	212	0.7500	-1	c.125 others(7): Show c.1259-5delT		FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	12/19				chr8	TogoVar
FAM136A_chr2_70290976_70307067	70301597	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02523.hp1 NA18945.hp2 HG02523.hp1 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	2	440	0.0046	0	c.408 others(5): Show c.408+7G>C		FAM136A	ENSG00000035141.10	transcript	ENST00000430566.6	protein_coding	1/2				chr2	TogoVar
FAM13A_chr4_88720960_89062185	88731430	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02572.hp2 HG02896.hp2 others(1): Show HG02486.hp1 HG02572.hp2 HG02896.hp2 NA18906.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0007c0028 a0001c0005 a0007c0028	a0001c0005t0012 a0007c0028t0035 a0001c0005t0012 a0007c0028t0035	a0001c0005t0012g0007 a0001c0005t0012g0036 a0001c0005t0012g0053 others(1): Show a0001c0005t0012g0007 a0001c0005t0012g0036 a0001c0005t0012g0053 a0007c0028t0035g0202	4	208	0.0192	1	c.284 others(7): Show c.2844-3dupT		FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	22/23				chr4	TogoVar
FAM13A_chr4_88720960_89062185	88732004	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0022 a0001c0022t0022	a0001c0022t0022g0002 a0001c0022t0022g0002	1	208	0.0048	0	c.284 others(4): Show c.2841A>C	p.Ser others(6): Show p.Ser947Ser	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	22/24	3062/5866	2841/3072	947/1023	chr4	TogoVar
FAM13A_chr4_88720960_89062185	88747627	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18961.hp1 NA18985.hp1 NA19084.hp1 NA18961.hp1 NA18985.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0130 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0130	3	208	0.0144	0	c.238 others(6): Show c.2382+4C>T		FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	18/23				chr4	TogoVar
FAM13A_chr4_88720960_89062185	88749907	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19088.hp2 NA19088.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0003 a0012c0020t0003	a0012c0020t0003g0156 a0012c0020t0003g0156	1	208	0.0048	0	c.194 others(4): Show c.1943G>A	p.Arg others(6): Show p.Arg648Gln	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	16/24	2164/5866	1943/3072	648/1023	chr4	TogoVar
FAM13B_chr5_137932960_138038079	137943044	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG01168.hp1 HG00733.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0114 a0001c0001t0001g0116	2	322	0.0062	0	c.242 others(6): Show c.2425-6T>G		FAM13B	ENSG00000031003.11	transcript	ENST00000689681.1	protein_coding	21/23				chr5	TogoVar
FAM149A_chr4_186099704_186180337	186156002	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0030 a0030	a0030c0042 a0030c0042	a0030c0042t0007 a0030c0042t0007	a0030c0042t0007g0068 a0030c0042t0007g0068	1	390	0.0026	0	c.125 others(4): Show c.1259A>T	p.Asp others(6): Show p.Asp420Val	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	7/14	1632/6042	1259/2319	420/772	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186162946	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02083.hp1 HG02083.hp1	a0009 a0009	a0009c0048 a0009c0048	a0009c0048t0003 a0009c0048t0003	a0009c0048t0003g0167 a0009c0048t0003g0167	1	390	0.0026	0	c.170 others(4): Show c.1704G>A	p.Thr others(6): Show p.Thr568Thr	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	9/14	2077/6042	1704/2319	568/772	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186167094	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01167.hp2 HG01256.hp1 HG01258.hp2 others(26): Show HG01167.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01934.hp1 HG01993.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 NA18906.hp1 NA18950.hp2 NA18970.hp2 NA19060.hp2 NA19062.hp1 NA19240.hp1 NA21309.hp2	a0006 a0007 a0011 a0006 a0007 a0011	a0006c0009 a0006c0018 a0006c0023 others(6): Show a0006c0009 a0006c0018 a0006c0023 a0006c0029 a0006c0045 a0006c0059 a0007c0011 a0011c0025 a0011c0058	a0006c0009t0008 a0006c0009t0013 a0006c0009t0024 others(15): Show a0006c0009t0008 a0006c0009t0013 a0006c0009t0024 a0006c0009t0041 a0006c0009t0044 a0006c0009t0086 a0006c0018t0026 a0006c0018t0069 a0006c0023t0001 a0006c0023t0080 a0006c0029t0013 a0006c0029t0024 a0006c0045t0048 a0006c0059t0013 a0007c0011t0008 a0011c0025t0008 a0011c0025t0089 a0011c0058t0071	a0006c0009t0008g0002 a0006c0009t0013g0029 a0006c0009t0013g0226 others(25): Show a0006c0009t0008g0002 a0006c0009t0013g0029 a0006c0009t0013g0226 a0006c0009t0013g0227 a0006c0009t0024g0028 a0006c0009t0041g0303 a0006c0009t0044g0225 a0006c0009t0086g0357 a0006c0018t0026g0266 a0006c0018t0026g0269 a0006c0018t0069g0265 a0006c0023t0001g0126 a0006c0023t0080g0127 a0006c0029t0013g0257 a0006c0029t0024g0256 a0006c0045t0048g0008 a0006c0059t0013g0316 a0007c0011t0008g0160 a0007c0011t0008g0162 a0007c0011t0008g0164 a0007c0011t0008g0171 a0007c0011t0008g0200 a0007c0011t0008g0201 a0007c0011t0008g0204 a0007c0011t0008g0300 a0011c0025t0008g0026 a0011c0025t0089g0376 a0011c0058t0071g0288	29	390	0.0744	0	c.216 others(4): Show c.2164C>T	p.Arg others(6): Show p.Arg722Trp	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	12/14	2537/6042	2164/2319	722/772	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186173520	ATTTTTTT others(2075): Show ATTTTTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTAGCCAGGC CGGTGTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAA GTGCTGGGATTATAGGCGTGAGCTTCCGCGCCTGGCCAGCTGACTCCATT TCTATAGCAATGAGACACATTAGGCAGCAGCAGCAGCAGCAGCAGCAGCG ACCACCAGGTCCATGCCTCTTTTCCGTGGTCACAGCTCCATGTGTCCGGG GAAGATTGCTAATGCTTAGTTTCCTGCACAAAGCAAACCAAAGCATTTTT GAGAATTTTCTACATTATTCCTAAACATTAGCAATAGAAACTTTTAAGAG CAAATGCCAGTCTTAATTCAGCAGCTCTCCCACTTGAGGAATAGTTAGAT ATGTGAGTAGCCTGGAGCCCATGTTATAGGGCTGCTGGTTAGGTGCTCTC TGGTGCATCATTACTGCTCAAAGCATGACCCACTTGCTCTTTCAGATCCA CTCAGGGTATTTTATGTCCATTTCCAGGAACCATCCAACTCCTTCCCTAT TCAGTCCAAACTTCCTTTTTTTTTTTTTTTACTTGAAGTTCAGGGGTACA TGTGCAGGTTGTTACATAGGTAAACTTGTGTCGTGGGAGTTTGTTGTACA GATTATCACCCAGGTATTAAGCCTAGTATCCATTAGTTATTTTTCCTGAT CCTCTCCCTCCTTCCACCCTCCACCCTTTGATAGGCCCTAGTGTGTGCTG TTCCCCTCTGTGTCCATGTGTTCTCATCATTTAGCTCCCACTTAGAAGTG AGAACGGATGGCATTTGTTTTTCTGTTTCTGCATTAGTTTGCTAAGGATA ATGACTTCCAGCTCCAGCCATGCCTCTGCAAAGGACATAATCTCATTCTT TTTTATGAGCTCAAGCTTCGTAGTAGGGAAAACACCGGATATTCAGTCTA AACTAACATTAAGGTAGGGTATCCAAGATAAAATGTTTTTTCTTTGAAAA CCACTGAATATACTTTATGGTAGCTTTACCTTGTTTGGCTCCAGAGGTTT GCAAATAAGAATCTATTATTTATATATATATATTGGTAAAAGACAAAATA TTTTTTAAAAAGTGATCTTGAGTCTTCTAAACATTAAATTGGAAGATAAA GTGCCATTTTAGAGATTACATAGAGACTTGGCCCTGTCATTGATTTTAAA AATGACCTTCTCATTGCACTGATTTTTACTCCATGTTAAAGTTAGTATTT TATTTATACATTAAATTAGATTTAGAGATTAGTAAATAATGCTTATATCA AGGATGGTGCTTTTTAAGCTAATTAGGTAAAAATTAGGGCAGTGTTTTAT AATCTACTTTAATAAATGAGTCTTACCTTAGAATTAATCTATTAAAAATT AAAAAAGAAAAATTGAACTACTTCTGAGATAGATTTTTAAATTCAGATTA GTGAATTTTACACTAATTGAATTACATTAATTAAAATGCCTGTTAGTTTA TCCAAAACCAAAGAAAGAATGAAGAAATTTTAAAACAATCTAAGAAAATG TAAAATACCATAGAAAACTGCTAGATTTTGTGAATTTAATATAAAAGGAA GTATCCATATTGATATTATTCTGAACTAGATGGAATTTCTACACCAATTC AGAAGTACGTTTTTATATATCATTTGGATATTATATTTTTTATTGTTTTA TTATAACTACAGATCATTGTGTAGGATTTTTGATTCCTTAATTTCTAATA AAATATAAAAGTGTTAAAAGAGTTTTCAAAAATGTGTAACATTTATAAAA GTATTTTTAGATTCCCAATTTTTGTATCATTTGTGCAAATATCTCTCTAT TCTGCAGTTTCTAATACATAGGTATTTATTATTTCTAACTACATAGTAAA CTTTCCCCAGTAAATTCTAAGTATATGTCCATATATATTTGCAAAGGCTT TACATAATTTATGAATACTCCGTTGTAATGTTTGTTTCAGAAGATTATGC TCCTGTGTGGTAATCATCATGGATTTGATTTCATCAAACATTTATTAAGC ACTTTCTTGGTGTAAGATTTTGTTCTAAGCATT	A A	splice_region_variant splice_region_variant	LOW	HG01167.hp2 HG01256.hp1 HG01258.hp2 others(21): Show HG01167.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01934.hp1 HG01993.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 NA18906.hp1 NA18950.hp2 NA19060.hp2 NA20300.hp1 NA21309.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0011	a0002c0007 a0006c0009 a0006c0029 others(5): Show a0002c0007 a0006c0009 a0006c0029 a0006c0045 a0006c0059 a0007c0011 a0011c0025 a0011c0058	a0002c0007t0013 a0006c0009t0008 a0006c0009t0013 others(11): Show a0002c0007t0013 a0006c0009t0008 a0006c0009t0013 a0006c0009t0024 a0006c0009t0041 a0006c0009t0044 a0006c0009t0086 a0006c0029t0013 a0006c0029t0024 a0006c0045t0048 a0006c0059t0013 a0007c0011t0008 a0011c0025t0008 a0011c0058t0071	a0002c0007t0013g0268 a0006c0009t0008g0002 a0006c0009t0013g0029 others(20): Show a0002c0007t0013g0268 a0006c0009t0008g0002 a0006c0009t0013g0029 a0006c0009t0013g0226 a0006c0009t0013g0227 a0006c0009t0024g0028 a0006c0009t0041g0303 a0006c0009t0044g0225 a0006c0009t0086g0357 a0006c0029t0013g0257 a0006c0029t0024g0256 a0006c0045t0048g0008 a0006c0059t0013g0316 a0007c0011t0008g0160 a0007c0011t0008g0162 a0007c0011t0008g0164 a0007c0011t0008g0171 a0007c0011t0008g0200 a0007c0011t0008g0201 a0007c0011t0008g0204 a0007c0011t0008g0300 a0011c0025t0008g0026 a0011c0058t0071g0288	24	390	0.0615	-2082	c.15 others(11): Show c.1534_*3615del		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14				chr4	TogoVar
FAM149A_chr4_186099704_186180337	186173611	CCTCCCAA others(1983): Show CCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTTCCGCGCCTGGCCAGCT GACTCCATTTCTATAGCAATGAGACACATTAGGCAGCAGCAGCAGCAGCA GCAGCAGCGACCACCAGGTCCATGCCTCTTTTCCGTGGTCACAGCTCCAT GTGTCCGGGGAAGATTGCTAATGCTTAGTTTCCTGCACAAAGCAAACCAA AGCATTTTTGAGAATTTTCTACATTATTCCTAAACATTAGCAATAGAAAC TTTTAAGAGCAAATGCCAGTCTTAATTCAGCAGCTCTCCCACTTGAGGAA TAGTTAGATATGTGAGTAGCCTGGAGCCCATGTTATAGGGCTGCTGGTTA GGTGCTCTCTGGTGCATCATTACTGCTCAAAGCATGACCCACTTGCTCTT TCAGATCCACTCAGGGTATTTTATGTCCATTTCCAGGAACCATCCAACTC CTTCCCTATTCAGTCCAAACTTCCTTTTTTTTTTTTTTTACTTGAAGTTC AGGGGTACATGTGCAGGTTGTTACATAGGTAAACTTGTGTCGTGGGAGTT TGTTGTACAGATTATCACCCAGGTATTAAGCCTAGTATCCATTAGTTATT TTTCCTGATCCTCTCCCTCCTTCCACCCTCCACCCTTTGATAGGCCCTAG TGTGTGCTGTTCCCCTCTGTGTCCATGTGTTCTCATCATTTAGCTCCCAC TTAGAAGTGAGAACGGATGGCATTTGTTTTTCTGTTTCTGCATTAGTTTG CTAAGGATAATGACTTCCAGCTCCAGCCATGCCTCTGCAAAGGACATAAT CTCATTCTTTTTTATGAGCTCAAGCTTCGTAGTAGGGAAAACACCGGATA TTCAGTCTAAACTAACATTAAGGTAGGGTATCCAAGATAAAATGTTTTTT CTTTGAAAACCACTGAATATACTTTATGGTAGCTTTACCTTGTTTGGCTC CAGAGGTTTGCAAATAAGAATCTATTATTTATATATATATATTGGTAAAA GACAAAATATTTTTTAAAAAGTGATCTTGAGTCTTCTAAACATTAAATTG GAAGATAAAGTGCCATTTTAGAGATTACATAGAGACTTGGCCCTGTCATT GATTTTAAAAATGACCTTCTCATTGCACTGATTTTTACTCCATGTTAAAG TTAGTATTTTATTTATACATTAAATTAGATTTAGAGATTAGTAAATAATG CTTATATCAAGGATGGTGCTTTTTAAGCTAATTAGGTAAAAATTAGGGCA GTGTTTTATAATCTACTTTAATAAATGAGTCTTACCTTAGAATTAATCTA TTAAAAATTAAAAAAGAAAAATTGAACTACTTCTGAGATAGATTTTTAAA TTCAGATTAGTGAATTTTACACTAATTGAATTACATTAATTAAAATGCCT GTTAGTTTATCCAAAACCAAAGAAAGAATGAAGAAATTTTAAAACAATCT AAGAAAATGTAAAATACCATAGAAAACTGCTAGATTTTGTGAATTTAATA TAAAAGGAAGTATCCATATTGATATTATTCTGAACTAGATGGAATTTCTA CACCAATTCAGAAGTACGTTTTTATATATCATTTGGATATTATATTTTTT ATTGTTTTATTATAACTACAGATCATTGTGTAGGATTTTTGATTCCTTAA TTTCTAATAAAATATAAAAGTGTTAAAAGAGTTTTCAAAAATGTGTAACA TTTATAAAAGTATTTTTAGATTCCCAATTTTTGTATCATTTGTGCAAATA TCTCTCTATTCTGCAGTTTCTAATACATAGGTATTTATTATTTCTAACTA CATAGTAAACTTTCCCCAGTAAATTCTAAGTATATGTCCATATATATTTG CAAAGGCTTTACATAATTTATGAATACTCCGTTGTAATGTTTGTTTCAGA AGATTATGCTCCTGTGTGGTAATCATCATGGATTTGATTTCATCAAACAT TTATTAAGCACTTTCTTGGTGTAAGATTTTGTTCTAAGCAT	C C	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(92): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01981.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02258.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19068.hp2 NA19077.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0013 a0014 a0018 a0021 a0029	a0001c0001 a0001c0005 a0001c0010 others(11): Show a0001c0001 a0001c0005 a0001c0010 a0001c0014 a0002c0004 a0002c0007 a0004c0003 a0004c0008 a0005c0006 a0013c0027 a0014c0017 a0018c0061 a0021c0046 a0029c0041	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(23): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0077 a0001c0005t0001 a0001c0010t0021 a0001c0010t0064 a0001c0014t0016 a0002c0004t0001 a0002c0004t0010 a0002c0004t0081 a0002c0007t0001 a0002c0007t0011 a0002c0007t0021 a0002c0007t0053 a0004c0003t0006 a0004c0008t0006 a0004c0008t0034 a0005c0006t0001 a0005c0006t0006 a0005c0006t0025 a0013c0027t0065 a0014c0017t0006 a0018c0061t0025 a0021c0046t0016 a0029c0041t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(91): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0234 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0006g0030 a0001c0001t0006g0380 a0001c0001t0010g0333 a0001c0001t0010g0335 a0001c0001t0010g0337 a0001c0001t0010g0360 a0001c0001t0010g0377 a0001c0001t0010g0378 a0001c0001t0077g0083 a0001c0005t0001g0136 a0001c0010t0021g0240 a0001c0010t0021g0241 a0001c0010t0064g0251 a0001c0014t0016g0004 a0001c0014t0016g0010 a0001c0014t0016g0011 a0002c0004t0001g0001 a0002c0004t0001g0120 a0002c0004t0001g0150 a0002c0004t0001g0258 a0002c0004t0001g0310 a0002c0004t0001g0311 a0002c0004t0010g0318 a0002c0004t0010g0350 a0002c0004t0081g0053 a0002c0007t0001g0264 a0002c0007t0011g0239 a0002c0007t0011g0252 a0002c0007t0011g0255 a0002c0007t0011g0262 a0002c0007t0011g0263 a0002c0007t0011g0272 a0002c0007t0011g0274 a0002c0007t0021g0273 a0002c0007t0053g0302 a0004c0003t0006g0218 a0004c0008t0006g0159 a0004c0008t0006g0166 a0004c0008t0006g0189 a0004c0008t0006g0192 a0004c0008t0006g0213 a0004c0008t0006g0215 a0004c0008t0006g0235 a0004c0008t0034g0172 a0004c0008t0034g0175 a0005c0006t0001g0385 a0005c0006t0006g0193 a0005c0006t0006g0194 a0005c0006t0025g0015 a0013c0027t0065g0198 a0014c0017t0006g0191 a0014c0017t0006g0195 a0018c0061t0025g0246 a0021c0046t0016g0003 a0029c0041t0001g0045	95	390	0.2436	-1990	c.16 others(11): Show c.1625_*3614del		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14				chr4	TogoVar
FAM149A_chr4_186099704_186180337	186173611	CCTCCCAA others(2057): Show CCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTTCCGCGCCTGGCCAGCT GACTCCATTTCTATAGCAATGAGACACATTAGGCAGCAGCAGCAGCAGCA GCAGCAGCGACCACCAGGTCCATGCCTCTTTTCCGTGGTCACAGCTCCAT GTGTCCGGGGAAGATTGCTAATGCTTAGTTTCCTGCACAAAGCAAACCAA AGCATTTTTGAGAATTTTCTACATTATTCCTAAACATTAGCAATAGAAAC TTTTAAGAGCAAATGCCAGTCTTAATTCAGCAGCTCTCCCACTTGAGGAA TAGTTAGATATGTGAGTAGCCTGGAGCCCATGTTATAGGGCTGCTGGTTA GGTGCTCTCTGGTGCATCATTACTGCTCAAAGCATGACCCACTTGCTCTT TCAGATCCACTCAGGGTATTTTATGTCCATTTCCAGGAACCATCCAACTC CTTCCCTATTCAGTCCAAACTTCCTTTTTTTTTTTTTTTACTTGAAGTTC AGGGGTACATGTGCAGGTTGTTACATAGGTAAACTTGTGTCGTGGGAGTT TGTTGTACAGATTATCACCCAGGTATTAAGCCTAGTATCCATTAGTTATT TTTCCTGATCCTCTCCCTCCTTCCACCCTCCACCCTTTGATAGGCCCTAG TGTGTGCTGTTCCCCTCTGTGTCCATGTGTTCTCATCATTTAGCTCCCAC TTAGAAGTGAGAACGGATGGCATTTGTTTTTCTGTTTCTGCATTAGTTTG CTAAGGATAATGACTTCCAGCTCCAGCCATGCCTCTGCAAAGGACATAAT CTCATTCTTTTTTATGAGCTCAAGCTTCGTAGTAGGGAAAACACCGGATA TTCAGTCTAAACTAACATTAAGGTAGGGTATCCAAGATAAAATGTTTTTT CTTTGAAAACCACTGAATATACTTTATGGTAGCTTTACCTTGTTTGGCTC CAGAGGTTTGCAAATAAGAATCTATTATTTATATATATATATTGGTAAAA GACAAAATATTTTTTAAAAAGTGATCTTGAGTCTTCTAAACATTAAATTG GAAGATAAAGTGCCATTTTAGAGATTACATAGAGACTTGGCCCTGTCATT GATTTTAAAAATGACCTTCTCATTGCACTGATTTTTACTCCATGTTAAAG TTAGTATTTTATTTATACATTAAATTAGATTTAGAGATTAGTAAATAATG CTTATATCAAGGATGGTGCTTTTTAAGCTAATTAGGTAAAAATTAGGGCA GTGTTTTATAATCTACTTTAATAAATGAGTCTTACCTTAGAATTAATCTA TTAAAAATTAAAAAAGAAAAATTGAACTACTTCTGAGATAGATTTTTAAA TTCAGATTAGTGAATTTTACACTAATTGAATTACATTAATTAAAATGCCT GTTAGTTTATCCAAAACCAAAGAAAGAATGAAGAAATTTTAAAACAATCT AAGAAAATGTAAAATACCATAGAAAACTGCTAGATTTTGTGAATTTAATA TAAAAGGAAGTATCCATATTGATATTATTCTGAACTAGATGGAATTTCTA CACCAATTCAGAAGTACGTTTTTATATATCATTTGGATATTATATTTTTT ATTGTTTTATTATAACTACAGATCATTGTGTAGGATTTTTGATTCCTTAA TTTCTAATAAAATATAAAAGTGTTAAAAGAGTTTTCAAAAATGTGTAACA TTTATAAAAGTATTTTTAGATTCCCAATTTTTGTATCATTTGTGCAAATA TCTCTCTATTCTGCAGTTTCTAATACATAGGTATTTATTATTTCTAACTA CATAGTAAACTTTCCCCAGTAAATTCTAAGTATATGTCCATATATATTTG CAAAGGCTTTACATAATTTATGAATACTCCGTTGTAATGTTTGTTTCAGA AGATTATGCTCCTGTGTGGTAATCATCATGGATTTGATTTCATCAAACAT TTATTAAGCACTTTCTTGGTGTAAGATTTTGTTCTAAGCATTATAGTGAA CAAGACAGTCTTTGGCCTAAAAGAACTTAGATTGTAGTGGAGGCGACAGA CTATAAACAATTAAA	C C	splice_region_variant splice_region_variant	LOW	NA18970.hp2 NA18970.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0126 a0006c0023t0001g0126	1	390	0.0026	-2064	c.16 others(11): Show c.1625_*3688del		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14				chr4	TogoVar
FAM149A_chr4_186099704_186180337	186173694	CAGCAGCA others(2034): Show CAGCAGCAGCAGCAGCAGCAGCAGCGACCACCAGGTCCATGCCTCTTTTC CGTGGTCACAGCTCCATGTGTCCGGGGAAGATTGCTAATGCTTAGTTTCC TGCACAAAGCAAACCAAAGCATTTTTGAGAATTTTCTACATTATTCCTAA ACATTAGCAATAGAAACTTTTAAGAGCAAATGCCAGTCTTAATTCAGCAG CTCTCCCACTTGAGGAATAGTTAGATATGTGAGTAGCCTGGAGCCCATGT TATAGGGCTGCTGGTTAGGTGCTCTCTGGTGCATCATTACTGCTCAAAGC ATGACCCACTTGCTCTTTCAGATCCACTCAGGGTATTTTATGTCCATTTC CAGGAACCATCCAACTCCTTCCCTATTCAGTCCAAACTTCCTTTTTTTTT TTTTTTACTTGAAGTTCAGGGGTACATGTGCAGGTTGTTACATAGGTAAA CTTGTGTCGTGGGAGTTTGTTGTACAGATTATCACCCAGGTATTAAGCCT AGTATCCATTAGTTATTTTTCCTGATCCTCTCCCTCCTTCCACCCTCCAC CCTTTGATAGGCCCTAGTGTGTGCTGTTCCCCTCTGTGTCCATGTGTTCT CATCATTTAGCTCCCACTTAGAAGTGAGAACGGATGGCATTTGTTTTTCT GTTTCTGCATTAGTTTGCTAAGGATAATGACTTCCAGCTCCAGCCATGCC TCTGCAAAGGACATAATCTCATTCTTTTTTATGAGCTCAAGCTTCGTAGT AGGGAAAACACCGGATATTCAGTCTAAACTAACATTAAGGTAGGGTATCC AAGATAAAATGTTTTTTCTTTGAAAACCACTGAATATACTTTATGGTAGC TTTACCTTGTTTGGCTCCAGAGGTTTGCAAATAAGAATCTATTATTTATA TATATATATTGGTAAAAGACAAAATATTTTTTAAAAAGTGATCTTGAGTC TTCTAAACATTAAATTGGAAGATAAAGTGCCATTTTAGAGATTACATAGA GACTTGGCCCTGTCATTGATTTTAAAAATGACCTTCTCATTGCACTGATT TTTACTCCATGTTAAAGTTAGTATTTTATTTATACATTAAATTAGATTTA GAGATTAGTAAATAATGCTTATATCAAGGATGGTGCTTTTTAAGCTAATT AGGTAAAAATTAGGGCAGTGTTTTATAATCTACTTTAATAAATGAGTCTT ACCTTAGAATTAATCTATTAAAAATTAAAAAAGAAAAATTGAACTACTTC TGAGATAGATTTTTAAATTCAGATTAGTGAATTTTACACTAATTGAATTA CATTAATTAAAATGCCTGTTAGTTTATCCAAAACCAAAGAAAGAATGAAG AAATTTTAAAACAATCTAAGAAAATGTAAAATACCATAGAAAACTGCTAG ATTTTGTGAATTTAATATAAAAGGAAGTATCCATATTGATATTATTCTGA ACTAGATGGAATTTCTACACCAATTCAGAAGTACGTTTTTATATATCATT TGGATATTATATTTTTTATTGTTTTATTATAACTACAGATCATTGTGTAG GATTTTTGATTCCTTAATTTCTAATAAAATATAAAAGTGTTAAAAGAGTT TTCAAAAATGTGTAACATTTATAAAAGTATTTTTAGATTCCCAATTTTTG TATCATTTGTGCAAATATCTCTCTATTCTGCAGTTTCTAATACATAGGTA TTTATTATTTCTAACTACATAGTAAACTTTCCCCAGTAAATTCTAAGTAT ATGTCCATATATATTTGCAAAGGCTTTACATAATTTATGAATACTCCGTT GTAATGTTTGTTTCAGAAGATTATGCTCCTGTGTGGTAATCATCATGGAT TTGATTTCATCAAACATTTATTAAGCACTTTCTTGGTGTAAGATTTTGTT CTAAGCATTATAGTGAACAAGACAGTCTTTGGCCTAAAAGAACTTAGATT GTAGTGGAGGCGACAGACTATAAACAATTAAATAAAAACATGATACAGGT CAGTTAGCAATAAGTGCTATGAAGAAACAAAGCGAGGCAAGG	C C	splice_region_variant splice_region_variant	LOW	NA19062.hp1 NA19062.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0080 a0006c0023t0080	a0006c0023t0080g0127 a0006c0023t0080g0127	1	390	0.0026	-2041	c.17 others(11): Show c.1708_*3748del		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14				chr4	TogoVar
FAM149A_chr4_186099704_186180337	186174652	ATTAAATT others(968): Show ATTAAATTGGAAGATAAAGTGCCATTTTAGAGATTACATAGAGACTTGGC CCTGTCATTGATTTTAAAAATGACCTTCTCATTGCACTGATTTTTACTCC ATGTTAAAGTTAGTATTTTATTTATACATTAAATTAGATTTAGAGATTAG TAAATAATGCTTATATCAAGGATGGTGCTTTTTAAGCTAATTAGGTAAAA ATTAGGGCAGTGTTTTATAATCTACTTTAATAAATGAGTCTTACCTTAGA ATTAATCTATTAAAAATTAAAAAAGAAAAATTGAACTACTTCTGAGATAG ATTTTTAAATTCAGATTAGTGAATTTTACACTAATTGAATTACATTAATT AAAATGCCTGTTAGTTTATCCAAAACCAAAGAAAGAATGAAGAAATTTTA AAACAATCTAAGAAAATGTAAAATACCATAGAAAACTGCTAGATTTTGTG AATTTAATATAAAAGGAAGTATCCATATTGATATTATTCTGAACTAGATG GAATTTCTACACCAATTCAGAAGTACGTTTTTATATATCATTTGGATATT ATATTTTTTATTGTTTTATTATAACTACAGATCATTGTGTAGGATTTTTG ATTCCTTAATTTCTAATAAAATATAAAAGTGTTAAAAGAGTTTTCAAAAA TGTGTAACATTTATAAAAGTATTTTTAGATTCCCAATTTTTGTATCATTT GTGCAAATATCTCTCTATTCTGCAGTTTCTAATACATAGGTATTTATTAT TTCTAACTACATAGTAAACTTTCCCCAGTAAATTCTAAGTATATGTCCAT ATATATTTGCAAAGGCTTTACATAATTTATGAATACTCCGTTGTAATGTT TGTTTCAGAAGATTATGCTCCTGTGTGGTAATCATCATGGATTTGATTTC ATCAAACATTTATTAAGCACTTTCTTGGTGTAAGATTTTGTTCTAAGCAT TATAGTGAACAAGACAGTCTTTGGCC	A A	splice_region_variant splice_region_variant	LOW	HG00673.hp2 HG02004.hp2 HG00673.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0082 a0001c0014t0059 a0001c0001t0082 a0001c0014t0059	a0001c0001t0082g0044 a0001c0014t0059g0006 a0001c0001t0082g0044 a0001c0014t0059g0006	2	390	0.0051	-975	c.26 others(11): Show c.2666_*3640del		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14				chr4	TogoVar
FAM149B1_chr10_73163119_73249504	73174684	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(101): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18986.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19083.hp2 NA19085.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0008 a0009 a0010	a0001c0001 a0002c0002 a0002c0009 others(5): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003 a0006c0006 a0008c0008 a0009c0007 a0010c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0002c0002t0002 a0002c0002t0011 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0009t0002 a0003c0003t0005 a0003c0003t0008 a0003c0003t0012 a0006c0006t0014 a0008c0008t0005 a0009c0007t0008 a0010c0005t0017	a0001c0001t0001g0044 a0001c0001t0002g0059 a0001c0001t0003g0217 others(101): Show a0001c0001t0001g0044 a0001c0001t0002g0059 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0006g0216 a0001c0001t0006g0219 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0009g0220 a0001c0001t0009g0221 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0088 a0002c0002t0011g0056 a0002c0002t0011g0058 a0002c0002t0016g0017 a0002c0002t0022g0052 a0002c0002t0023g0086 a0002c0002t0024g0012 a0002c0002t0025g0033 a0002c0002t0026g0073 a0002c0009t0002g0064 a0003c0003t0005g0006 a0003c0003t0005g0025 a0003c0003t0005g0083 a0003c0003t0005g0084 a0003c0003t0008g0003 a0003c0003t0008g0004 a0003c0003t0012g0005 a0003c0003t0012g0087 a0006c0006t0014g0096 a0008c0008t0005g0085 a0009c0007t0008g0008 a0010c0005t0017g0007	104	236	0.4407	0	c.48- others(4): Show c.48-3C>T		FAM149B1	ENSG00000138286.15	transcript	ENST00000242505.11	protein_coding	1/13				chr10	TogoVar
FAM149B1_chr10_73163119_73249504	73240940	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(80): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02809.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18986.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19083.hp2 NA19085.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0009 a0010	a0001c0001 a0002c0002 a0002c0009 others(4): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003 a0008c0008 a0009c0007 a0010c0005	a0001c0001t0002 a0002c0002t0002 a0002c0002t0011 others(14): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0011 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0009t0002 a0003c0003t0001 a0003c0003t0005 a0003c0003t0008 a0003c0003t0012 a0008c0008t0005 a0009c0007t0008 a0010c0005t0017	a0001c0001t0002g0059 a0002c0002t0002g0009 a0002c0002t0002g0010 others(80): Show a0001c0001t0002g0059 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0088 a0002c0002t0011g0056 a0002c0002t0011g0058 a0002c0002t0016g0017 a0002c0002t0022g0052 a0002c0002t0023g0086 a0002c0002t0024g0012 a0002c0002t0025g0033 a0002c0002t0026g0073 a0002c0009t0002g0064 a0003c0003t0001g0125 a0003c0003t0005g0006 a0003c0003t0005g0025 a0003c0003t0005g0083 a0003c0003t0005g0084 a0003c0003t0008g0003 a0003c0003t0008g0004 a0003c0003t0012g0005 a0003c0003t0012g0087 a0008c0008t0005g0085 a0009c0007t0008g0008 a0010c0005t0017g0007	83	236	0.3517	0	c.167 others(6): Show c.1676-6T>C		FAM149B1	ENSG00000138286.15	transcript	ENST00000242505.11	protein_coding	13/13				chr10	TogoVar
FAM151A_chr1_54604181_54628525	54620011	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp2 HG00735.hp1 others(17): Show HG00099.hp1 HG00280.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG02004.hp2 HG02602.hp2 HG02738.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp2 HG04115.hp1 NA20752.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0012	a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0007c0012t0001	a0001c0001t0002g0280 a0001c0001t0002g0299 a0001c0003t0001g0180 others(12): Show a0001c0001t0002g0280 a0001c0001t0002g0299 a0001c0003t0001g0180 a0001c0003t0001g0264 a0001c0003t0001g0282 a0002c0002t0001g0011 a0002c0002t0001g0021 a0002c0002t0001g0252 a0002c0002t0001g0265 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0287 a0007c0012t0001g0181 a0007c0012t0001g0182 a0007c0012t0001g0281	20	448	0.0446	-1	c.119 others(6): Show c.119-5delT		FAM151A	ENSG00000162391.12	transcript	ENST00000302250.7	protein_coding	1/7				chr1	TogoVar
FAM151A_chr1_54604181_54628525	54620014	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp2 HG00735.hp1 others(17): Show HG00099.hp1 HG00280.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG02004.hp2 HG02602.hp2 HG02738.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp2 HG04115.hp1 NA20752.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0012	a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0007c0012t0001	a0001c0001t0002g0280 a0001c0001t0002g0299 a0001c0003t0001g0180 others(12): Show a0001c0001t0002g0280 a0001c0001t0002g0299 a0001c0003t0001g0180 a0001c0003t0001g0264 a0001c0003t0001g0282 a0002c0002t0001g0011 a0002c0002t0001g0021 a0002c0002t0001g0252 a0002c0002t0001g0265 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0287 a0007c0012t0001g0181 a0007c0012t0001g0182 a0007c0012t0001g0281	20	448	0.0446	0	c.119 others(5): Show c.119-7C>G		FAM151A	ENSG00000162391.12	transcript	ENST00000302250.7	protein_coding	1/7				chr1	TogoVar
FAM153A_chr5_177718364_177787899	177734373	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0025 a0004c0004t0006g0025	1	36	0.0278	0	c.529 others(5): Show c.529+7A>G		FAM153A	ENSG00000170074.21	transcript	ENST00000697116.2	protein_coding	16/22				chr5	TogoVar
FAM153A_chr5_177718364_177787899	177736579	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0025 a0004c0004t0006g0025	1	36	0.0278	0	c.433 others(3): Show c.433T>C	p.Phe others(6): Show p.Phe145Leu	FAM153A	ENSG00000170074.21	transcript	ENST00000697116.2	protein_coding	14/23	927/2176	433/933	145/310	chr5	TogoVar
FAM153A_chr5_177718364_177787899	177737043	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03471.hp2 NA21309.hp1 HG03471.hp2 NA21309.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0004 a0003c0005 a0004c0004	a0003c0005t0001 a0004c0004t0006 a0003c0005t0001 a0004c0004t0006	a0003c0005t0001g0035 a0004c0004t0006g0025 a0003c0005t0001g0035 a0004c0004t0006g0025	2	36	0.0556	0	c.401 others(3): Show c.401C>T	p.Thr others(6): Show p.Thr134Met	FAM153A	ENSG00000170074.21	transcript	ENST00000697116.2	protein_coding	13/23	895/2176	401/933	134/310	chr5	TogoVar
FAM161A_chr2_61819848_61859060	61839417	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	400	0.0025	0	c.158 others(6): Show c.1583+4A>G		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	3/6				chr2	TogoVar
FAM161A_chr2_61819848_61859060	61840588	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG03579.hp1 HG02965.hp1 HG03579.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0002 a0010c0011t0002 a0001c0001t0002 a0010c0011t0002	a0001c0001t0002g0276 a0010c0011t0002g0263 a0001c0001t0002g0276 a0010c0011t0002g0263	2	400	0.0050	0	c.423 others(5): Show c.423-7C>T		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	2/6				chr2	TogoVar
FAM162B_chr6_116747197_116770719	116761969	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00741.hp2 HG01074.hp1 others(43): Show HG00099.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp2 HG01358.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG04199.hp1 NA18522.hp1 NA18957.hp1 NA19066.hp1 NA19081.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0030 others(31): Show a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0237 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0009g0180	46	474	0.0971	0	c.390 others(5): Show c.390+8T>G		FAM162B	ENSG00000183807.8	transcript	ENST00000368557.6	protein_coding	3/3				chr6	TogoVar
FAM163B_chr9_133572081_133614389	133580123	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	382	0.0026	0	c.93+ others(4): Show c.93+8C>T		FAM163B	ENSG00000196990.10	transcript	ENST00000673969.1	protein_coding	2/2				chr9	TogoVar
FAM166A_chr9_137238599_137252751	137244172	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0063 a0001c0017t0001g0063	1	418	0.0024	0	c.864 others(3): Show c.864C>T	p.Pro others(6): Show p.Pro288Pro	FAM166A	ENSG00000188163.8	transcript	ENST00000344774.6	protein_coding	6/7	900/1091	864/954	288/317	chr9	TogoVar
FAM166A_chr9_137238599_137252751	137244740	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	418	0.0024	0	c.653 others(5): Show c.653-4C>T		FAM166A	ENSG00000188163.8	transcript	ENST00000344774.6	protein_coding	4/6				chr9	TogoVar
FAM166A_chr9_137238599_137252751	137245556	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18945.hp1 NA19010.hp1 NA19011.hp1 others(1): Show NA18945.hp1 NA19010.hp1 NA19011.hp1 NA19084.hp2	a0001 a0011 a0001 a0011	a0001c0006 a0011c0013 a0001c0006 a0011c0013	a0001c0006t0001 a0011c0013t0001 a0001c0006t0001 a0011c0013t0001	a0001c0006t0001g0018 a0001c0006t0001g0050 a0011c0013t0001g0031 a0001c0006t0001g0018 a0001c0006t0001g0050 a0011c0013t0001g0031	4	418	0.0096	0	c.273 others(3): Show c.273T>C	p.Ser others(5): Show p.Ser91Ser	FAM166A	ENSG00000188163.8	transcript	ENST00000344774.6	protein_coding	3/7	309/1091	273/954	91/317	chr9	TogoVar
FAM166B_chr9_35556831_35568878	35562645	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00558.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0024 a0006c0009t0001g0024	1	436	0.0023	0	c.544 others(5): Show c.544+4A>G		FAM166B	ENSG00000215187.13	transcript	ENST00000399742.7	protein_coding	4/5				chr9	TogoVar
FAM166B_chr9_35556831_35568878	35563763	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00558.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0024 a0006c0009t0001g0024	1	436	0.0023	0	c.62+ others(4): Show c.62+4A>T		FAM166B	ENSG00000215187.13	transcript	ENST00000399742.7	protein_coding	1/5				chr9	TogoVar
FAM166C_chr2_26557587_26584524	26562694	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02486.hp2 HG02886.hp1 others(1): Show HG02055.hp2 HG02486.hp2 HG02886.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0003t0001g0045 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0003t0001g0045	4	412	0.0097	0	c.74+ others(4): Show c.74+8C>T		FAM166C	ENSG00000173557.15	transcript	ENST00000329615.4	protein_coding	1/3				chr2	TogoVar
FAM166C_chr2_26557587_26584524	26579524	A A	T T	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(137): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0013 a0003c0007 a0004c0011 a0005c0012	a0001c0001t0002 a0001c0004t0002 a0002c0002t0002 others(4): Show a0001c0001t0002 a0001c0004t0002 a0002c0002t0002 a0002c0013t0002 a0003c0007t0002 a0004c0011t0002 a0005c0012t0002	a0001c0001t0002g0068 a0001c0004t0002g0018 a0002c0002t0002g0002 others(47): Show a0001c0001t0002g0068 a0001c0004t0002g0018 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0010 a0002c0002t0002g0017 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0028 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0054 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0069 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0123 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0141 a0002c0002t0002g0145 a0002c0013t0002g0002 a0003c0007t0002g0002 a0004c0011t0002g0096 a0005c0012t0002g0003	140	412	0.3398	0	c.86 others(3): Show c.86A>T		FAM166C	ENSG00000173557.15	transcript	ENST00000329615.4	protein_coding	4/4				chr2	TogoVar
FAM168A_chr11_73395487_73603112	73406749	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	180	0.0056	0	c.19 others(5): Show c.19-5T>C		FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	7/7				chr11	TogoVar
FAM168A_chr11_73395487_73603112	73468406	C C	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0083 a0001c0006t0001g0083	1	180	0.0056	0	c.69G others(2): Show c.69G>T	p.Thr others(5): Show p.Thr23Thr	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	2/8	277/7192	69/708	23/235	chr11	TogoVar
FAM171A1_chr10_15206643_15376289	15254887	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	303	0.0033	0	c.419 others(5): Show c.419-8C>A		FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	3/7				chr10	TogoVar
FAM172A_chr5_93612725_94116663	93824265	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	126	0.0079	0	c.789 others(3): Show c.789A>G	p.Glu others(6): Show p.Glu263Glu	FAM172A	ENSG00000113391.19	transcript	ENST00000395965.8	protein_coding	8/11	960/4684	789/1251	263/416	chr5	TogoVar
FAM177A1_chr14_35041272_35088378	35053275	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	370	0.0027	0	c.166 others(5): Show c.166-3T>C		FAM177A1	ENSG00000151327.14	transcript	ENST00000280987.9	protein_coding	1/4				chr14	TogoVar
FAM177B_chr1_222732202_222756004	222737327	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02280.hp1 HG02615.hp2 others(4): Show HG02257.hp2 HG02280.hp1 HG02615.hp2 HG02647.hp2 HG02922.hp2 HG03209.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0027 a0003c0003t0004g0049 a0003c0003t0004g0050 others(3): Show a0003c0003t0004g0027 a0003c0003t0004g0049 a0003c0003t0004g0050 a0003c0003t0004g0051 a0003c0003t0004g0052 a0003c0003t0004g0053	7	400	0.0175	0	c.-13 others(6): Show c.-134+5G>A		FAM177B	ENSG00000197520.11	transcript	ENST00000445590.4	protein_coding	1/5				chr1	TogoVar
FAM178B_chr2_96870885_96991580	96876312	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG02895.hp2 HG02809.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	250	0.0080	0	c.200 others(6): Show c.2008-4G>A		FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	16/16				chr2	TogoVar
FAM178B_chr2_96870885_96991580	96951490	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(176): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18945.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0003 a0001c0012 others(21): Show a0001c0001 a0001c0003 a0001c0012 a0001c0017 a0001c0019 a0002c0002 a0002c0008 a0002c0010 a0002c0015 a0002c0023 a0002c0024 a0003c0005 a0003c0011 a0004c0004 a0005c0006 a0006c0007 a0007c0013 a0008c0014 a0009c0016 a0010c0018 a0011c0020 a0012c0025 a0014c0021 a0015c0026	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0003t0009 a0001c0012t0001 a0001c0017t0001 a0001c0019t0001 a0002c0002t0001 a0002c0008t0001 a0002c0010t0001 a0002c0010t0007 a0002c0015t0003 a0002c0023t0005 a0002c0024t0001 a0003c0005t0001 a0003c0011t0001 a0004c0004t0001 a0005c0006t0001 a0006c0007t0002 a0007c0013t0001 a0008c0014t0001 a0009c0016t0001 a0010c0018t0001 a0011c0020t0001 a0012c0025t0001 a0014c0021t0001 a0015c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(175): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0004g0002 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0029 a0001c0003t0001g0035 a0001c0003t0001g0039 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0089 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0114 a0001c0003t0001g0117 a0001c0003t0001g0223 a0001c0003t0009g0249 a0001c0012t0001g0139 a0001c0012t0001g0140 a0001c0012t0001g0141 a0001c0017t0001g0142 a0001c0019t0001g0009 a0002c0002t0001g0156 a0002c0008t0001g0159 a0002c0008t0001g0229 a0002c0008t0001g0230 a0002c0008t0001g0232 a0002c0008t0001g0233 a0002c0008t0001g0234 a0002c0010t0001g0007 a0002c0010t0001g0144 a0002c0010t0001g0158 a0002c0010t0007g0160 a0002c0015t0003g0003 a0002c0015t0003g0004 a0002c0023t0005g0157 a0002c0024t0001g0222 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0003c0005t0001g0245 a0003c0011t0001g0236 a0003c0011t0001g0246 a0003c0011t0001g0247 a0003c0011t0001g0248 a0004c0004t0001g0043 a0004c0004t0001g0121 a0004c0004t0001g0122 a0004c0004t0001g0123 a0004c0004t0001g0124 a0004c0004t0001g0125 a0004c0004t0001g0126 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0130 a0004c0004t0001g0143 a0005c0006t0001g0020 a0005c0006t0001g0021 a0005c0006t0001g0022 a0005c0006t0001g0023 a0005c0006t0001g0045 a0005c0006t0001g0058 a0005c0006t0001g0064 a0006c0007t0002g0042 a0006c0007t0002g0087 a0006c0007t0002g0094 a0006c0007t0002g0095 a0006c0007t0002g0115 a0006c0007t0002g0116 a0007c0013t0001g0090 a0007c0013t0001g0092 a0008c0014t0001g0228 a0008c0014t0001g0231 a0009c0016t0001g0226 a0009c0016t0001g0227 a0010c0018t0001g0010 a0011c0020t0001g0235 a0012c0025t0001g0006 a0014c0021t0001g0225 a0015c0026t0001g0224	179	250	0.7160	0	c.888 others(5): Show c.888-6T>C		FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	6/16				chr2	TogoVar
FAM180A_chr7_135724592_135753813	135730280	G G	A A	splice_region_variant splice_region_variant	LOW	HG00544.hp2 HG00735.hp1 HG01069.hp1 others(107): Show HG00544.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18993.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0011 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0011 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0010 others(46): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0116 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0191 a0001c0001t0002g0209 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0011g0063 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0003c0003t0002g0016 a0003c0003t0002g0229	110	436	0.2523	0	c.33 others(4): Show c.331C>T		FAM180A	ENSG00000189320.9	transcript	ENST00000338588.8	protein_coding	4/4				chr7	TogoVar
FAM180B_chr11_47581678_47594194	47587821	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0002	1	414	0.0024	0	c.156 others(3): Show c.156G>T	p.Glu others(5): Show p.Glu52Asp	FAM180B	ENSG00000196666.6	transcript	ENST00000538490.3	protein_coding	2/3	247/1403	156/552	52/183	chr11	TogoVar
FAM181A_chr14_93922344_93934608	93927453	C C	T T	splice_region_variant splice_region_variant	LOW	HG00609.hp2 HG02074.hp2 NA18961.hp2 others(5): Show HG00609.hp2 HG02074.hp2 NA18961.hp2 NA19007.hp1 NA19066.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	8	439	0.0182	0	c.-89 others(3): Show c.-89C>T		FAM181A	ENSG00000140067.7	transcript	ENST00000556222.2	protein_coding	1/2				chr14	TogoVar
FAM184A_chr6_118954763_119083664	118961753	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0058 a0001c0001t0001g0059	2	286	0.0070	0	c.334 others(6): Show c.3341+8C>G		FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	17/17				chr6	TogoVar
FAM184A_chr6_118954763_119083664	118975213	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG00639.hp1 HG00642.hp2 others(53): Show HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03834.hp2 HG06807.hp1 NA18906.hp2 NA18941.hp1 NA18954.hp1 NA18959.hp1 NA18985.hp1 NA18987.hp1 NA18991.hp1 NA19000.hp2 NA19002.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0009 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0003t0001 a0001c0003t0005 a0002c0002t0002 a0005c0009t0004 a0007c0010t0004	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(53): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0061 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0004g0003 a0001c0001t0005g0029 a0001c0001t0010g0284 a0001c0003t0001g0046 a0001c0003t0001g0133 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0142 a0001c0003t0001g0262 a0001c0003t0005g0030 a0002c0002t0002g0121 a0002c0002t0002g0129 a0002c0002t0002g0143 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0002g0208 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0217 a0002c0002t0002g0221 a0002c0002t0002g0224 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0236 a0002c0002t0002g0264 a0002c0002t0002g0268 a0005c0009t0004g0005 a0007c0010t0004g0004	56	286	0.1958	1	c.258 others(7): Show c.2584-6dupT		FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	12/17				chr6	TogoVar
FAM184A_chr6_118954763_119083664	119016749	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0004 a0007c0010t0004g0004	1	286	0.0035	0	c.152 others(4): Show c.1528A>G	p.Met others(6): Show p.Met510Val	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	5/18	1893/4128	1528/3423	510/1140	chr6	TogoVar
FAM184A_chr6_118954763_119083664	119024820	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0037 a0001c0001t0001g0038	2	286	0.0070	0	c.160 others(5): Show c.160-7C>G		FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	1/17				chr6	TogoVar
FAM184B_chr4_17624306_17786621	17632632	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(136): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18950.hp1 NA18955.hp2 NA18956.hp1 NA18972.hp1 NA18972.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0014 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0031 a0032 a0033	a0001c0003 a0001c0007 a0001c0008 others(39): Show a0001c0003 a0001c0007 a0001c0008 a0001c0021 a0001c0029 a0002c0001 a0002c0002 a0002c0016 a0002c0020 a0002c0022 a0003c0009 a0003c0018 a0004c0010 a0004c0035 a0005c0028 a0005c0030 a0005c0031 a0005c0036 a0005c0042 a0006c0014 a0006c0019 a0007c0041 a0007c0043 a0007c0050 a0008c0034 a0008c0039 a0008c0049 a0009c0011 a0014c0024 a0018c0044 a0019c0040 a0020c0054 a0021c0052 a0022c0045 a0023c0053 a0024c0037 a0025c0056 a0027c0057 a0028c0032 a0031c0027 a0032c0061 a0033c0064	a0001c0003t0018 a0001c0003t0019 a0001c0007t0019 others(56): Show a0001c0003t0018 a0001c0003t0019 a0001c0007t0019 a0001c0008t0018 a0001c0008t0019 a0001c0021t0018 a0001c0021t0064 a0001c0029t0005 a0002c0001t0001 a0002c0001t0016 a0002c0001t0017 a0002c0001t0031 a0002c0001t0033 a0002c0001t0055 a0002c0001t0058 a0002c0001t0059 a0002c0002t0001 a0002c0002t0016 a0002c0002t0032 a0002c0002t0069 a0002c0016t0001 a0002c0020t0001 a0002c0020t0016 a0002c0022t0001 a0003c0009t0005 a0003c0018t0005 a0004c0010t0006 a0004c0035t0006 a0005c0028t0006 a0005c0030t0015 a0005c0031t0015 a0005c0036t0053 a0005c0042t0006 a0006c0014t0001 a0006c0014t0063 a0006c0019t0001 a0007c0041t0012 a0007c0043t0012 a0007c0050t0012 a0008c0034t0051 a0008c0039t0015 a0008c0049t0034 a0009c0011t0001 a0009c0011t0056 a0014c0024t0001 a0014c0024t0032 a0018c0044t0001 a0019c0040t0065 a0020c0054t0001 a0021c0052t0050 a0022c0045t0001 a0023c0053t0012 a0024c0037t0052 a0025c0056t0061 a0027c0057t0030 a0028c0032t0062 a0031c0027t0001 a0032c0061t0030 a0033c0064t0057	a0001c0003t0018g0006 a0001c0003t0019g0095 a0001c0007t0019g0143 others(136): Show a0001c0003t0018g0006 a0001c0003t0019g0095 a0001c0007t0019g0143 a0001c0008t0018g0020 a0001c0008t0019g0102 a0001c0021t0018g0068 a0001c0021t0064g0005 a0001c0029t0005g0115 a0002c0001t0001g0002 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0090 a0002c0001t0001g0101 a0002c0001t0001g0116 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0126 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0131 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0152 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0181 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0214 a0002c0001t0001g0218 a0002c0001t0001g0222 a0002c0001t0001g0226 a0002c0001t0016g0130 a0002c0001t0017g0091 a0002c0001t0017g0137 a0002c0001t0017g0138 a0002c0001t0031g0178 a0002c0001t0031g0179 a0002c0001t0033g0001 a0002c0001t0055g0144 a0002c0001t0058g0173 a0002c0001t0059g0127 a0002c0002t0001g0025 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0114 a0002c0002t0001g0119 a0002c0002t0001g0134 a0002c0002t0001g0155 a0002c0002t0001g0171 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0001g0203 a0002c0002t0001g0210 a0002c0002t0001g0217 a0002c0002t0001g0228 a0002c0002t0016g0039 a0002c0002t0032g0236 a0002c0002t0069g0235 a0002c0016t0001g0071 a0002c0016t0001g0074 a0002c0016t0001g0221 a0002c0020t0001g0079 a0002c0020t0016g0089 a0002c0022t0001g0085 a0002c0022t0001g0151 a0003c0009t0005g0009 a0003c0009t0005g0133 a0003c0009t0005g0162 a0003c0009t0005g0195 a0003c0018t0005g0192 a0003c0018t0005g0196 a0004c0010t0006g0077 a0004c0010t0006g0107 a0004c0010t0006g0109 a0004c0010t0006g0165 a0004c0035t0006g0139 a0005c0028t0006g0191 a0005c0030t0015g0033 a0005c0031t0015g0193 a0005c0036t0053g0233 a0005c0042t0006g0093 a0006c0014t0001g0008 a0006c0014t0001g0042 a0006c0014t0063g0053 a0006c0019t0001g0064 a0006c0019t0001g0100 a0007c0041t0012g0011 a0007c0043t0012g0105 a0007c0050t0012g0004 a0008c0034t0051g0010 a0008c0039t0015g0016 a0008c0049t0034g0112 a0009c0011t0001g0032 a0009c0011t0001g0081 a0009c0011t0056g0084 a0014c0024t0001g0183 a0014c0024t0032g0237 a0018c0044t0001g0062 a0019c0040t0065g0012 a0020c0054t0001g0202 a0021c0052t0050g0076 a0022c0045t0001g0061 a0023c0053t0012g0080 a0024c0037t0052g0094 a0025c0056t0061g0078 a0027c0057t0030g0096 a0028c0032t0062g0172 a0031c0027t0001g0088 a0032c0061t0030g0007 a0033c0064t0057g0223	139	238	0.5840	0	c.309 others(6): Show c.3090-7C>T		FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	17/17				chr4	TogoVar
FAM184B_chr4_17624306_17786621	17633886	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02615.hp2 HG02615.hp2	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0015 a0005c0031t0015	a0005c0031t0015g0193 a0005c0031t0015g0193	1	238	0.0042	0	c.289 others(4): Show c.2892A>G	p.Lys others(6): Show p.Lys964Lys	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	17/18	3214/6731	2892/3183	964/1060	chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)