Joint Open Genome and Omics Platform (JoGo)

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 (≤).

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Select column to sort.

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⚠️ 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	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
ANLN_chr7_36384862_36458791	36396390	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0043 a0008c0013t0003g0043	1	408	0.0025	c.143 others(3): Show c.143G>A	p.Ser others(5): Show p.Ser48Asn	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	2/24	308/4731	143/3375	48/1124	chr7	TogoVar
ANLN_chr7_36384862_36458791	36399100	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(52): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG01070.hp2 HG01109.hp1 HG01192.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01978.hp2 HG02055.hp1 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp2 HG02965.hp1 HG03041.hp2 HG03516.hp1 HG03831.hp1 HG03834.hp2 HG04228.hp2 NA18940.hp2 NA18955.hp1 NA18961.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19002.hp1 NA19081.hp1 NA19240.hp1 NA20129.hp2	a0004 a0006 a0015 others(1): Show a0004 a0006 a0015 a0016	a0004c0003 a0004c0007 a0004c0025 others(3): Show a0004c0003 a0004c0007 a0004c0025 a0006c0008 a0015c0023 a0016c0024	a0004c0003t0002 a0004c0007t0001 a0004c0007t0006 others(4): Show a0004c0003t0002 a0004c0007t0001 a0004c0007t0006 a0004c0025t0002 a0006c0008t0002 a0015c0023t0002 a0016c0024t0002	a0004c0003t0002g0010 a0004c0003t0002g0011 a0004c0003t0002g0012 others(47): Show a0004c0003t0002g0010 a0004c0003t0002g0011 a0004c0003t0002g0012 a0004c0003t0002g0013 a0004c0003t0002g0336 a0004c0003t0002g0340 a0004c0003t0002g0341 a0004c0003t0002g0350 a0004c0003t0002g0351 a0004c0003t0002g0352 a0004c0003t0002g0353 a0004c0003t0002g0354 a0004c0003t0002g0355 a0004c0003t0002g0356 a0004c0003t0002g0357 a0004c0003t0002g0358 a0004c0003t0002g0359 a0004c0003t0002g0360 a0004c0003t0002g0361 a0004c0003t0002g0363 a0004c0003t0002g0365 a0004c0003t0002g0366 a0004c0003t0002g0367 a0004c0003t0002g0368 a0004c0003t0002g0369 a0004c0003t0002g0370 a0004c0003t0002g0371 a0004c0003t0002g0372 a0004c0003t0002g0373 a0004c0003t0002g0374 a0004c0003t0002g0375 a0004c0003t0002g0376 a0004c0003t0002g0377 a0004c0003t0002g0378 a0004c0003t0002g0380 a0004c0003t0002g0385 a0004c0003t0002g0386 a0004c0003t0002g0387 a0004c0007t0001g0382 a0004c0007t0006g0014 a0004c0007t0006g0381 a0004c0007t0006g0388 a0004c0007t0006g0389 a0004c0025t0002g0362 a0006c0008t0002g0348 a0006c0008t0002g0349 a0006c0008t0002g0383 a0006c0008t0002g0384 a0015c0023t0002g0364 a0016c0024t0002g0379	55	408	0.1348	c.194 others(3): Show c.194C>G	p.Ser others(5): Show p.Ser65Trp	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	3/24	359/4731	194/3375	65/1124	chr7	TogoVar
ANLN_chr7_36384862_36458791	36399229	A A	C C	missense_variant missense_variant	MODERATE	NA19054.hp2 NA19054.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0059 a0009c0022t0001g0059	1	408	0.0025	c.323 others(3): Show c.323A>C	p.Gln others(6): Show p.Gln108Pro	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	3/24	488/4731	323/3375	108/1124	chr7	TogoVar
ANLN_chr7_36384862_36458791	36399340	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0015 a0015	a0015c0023 a0015c0023	a0015c0023t0002 a0015c0023t0002	a0015c0023t0002g0364 a0015c0023t0002g0364	1	408	0.0025	c.434 others(3): Show c.434G>A	p.Arg others(6): Show p.Arg145His	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	3/24	599/4731	434/3375	145/1124	chr7	TogoVar
ANLN_chr7_36384862_36458791	36406247	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(265): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0015 a0016	a0002c0001 a0002c0015 a0003c0004 others(15): Show a0002c0001 a0002c0015 a0003c0004 a0003c0005 a0003c0009 a0004c0003 a0004c0007 a0004c0025 a0005c0006 a0006c0008 a0007c0010 a0008c0013 a0009c0022 a0010c0014 a0011c0017 a0012c0016 a0015c0023 a0016c0024	a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 others(24): Show a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0010 a0002c0001t0013 a0002c0015t0002 a0003c0004t0001 a0003c0004t0009 a0003c0005t0001 a0003c0005t0008 a0003c0009t0001 a0004c0003t0002 a0004c0007t0001 a0004c0007t0006 a0004c0025t0002 a0005c0006t0001 a0005c0006t0004 a0005c0006t0012 a0006c0008t0002 a0007c0010t0001 a0008c0013t0003 a0009c0022t0001 a0010c0014t0001 a0011c0017t0001 a0012c0016t0001 a0015c0023t0002 a0016c0024t0002	a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 others(252): Show a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0009 a0002c0001t0001g0015 a0002c0001t0001g0028 a0002c0001t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0058 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0070 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0079 a0002c0001t0001g0080 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0246 a0002c0001t0001g0287 a0002c0001t0001g0288 a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0292 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0295 a0002c0001t0001g0296 a0002c0001t0001g0297 a0002c0001t0001g0298 a0002c0001t0001g0299 a0002c0001t0001g0300 a0002c0001t0001g0301 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0001g0304 a0002c0001t0001g0305 a0002c0001t0001g0306 a0002c0001t0001g0307 a0002c0001t0001g0308 a0002c0001t0001g0309 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0318 a0002c0001t0001g0320 a0002c0001t0001g0321 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0334 a0002c0001t0001g0335 a0002c0001t0001g0337 a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0390 a0002c0001t0001g0391 a0002c0001t0003g0002 a0002c0001t0003g0029 a0002c0001t0003g0030 a0002c0001t0003g0031 a0002c0001t0003g0032 a0002c0001t0003g0034 a0002c0001t0003g0035 a0002c0001t0003g0036 a0002c0001t0003g0037 a0002c0001t0003g0038 a0002c0001t0003g0039 a0002c0001t0003g0040 a0002c0001t0003g0041 a0002c0001t0003g0042 a0002c0001t0003g0044 a0002c0001t0005g0342 a0002c0001t0005g0343 a0002c0001t0005g0344 a0002c0001t0005g0345 a0002c0001t0005g0346 a0002c0001t0005g0347 a0002c0001t0010g0319 a0002c0001t0013g0033 a0002c0015t0002g0392 a0003c0004t0001g0049 a0003c0004t0001g0233 a0003c0004t0001g0234 a0003c0004t0001g0235 a0003c0004t0001g0239 a0003c0004t0001g0240 a0003c0004t0001g0241 a0003c0004t0001g0242 a0003c0004t0001g0244 a0003c0004t0001g0249 a0003c0004t0001g0251 a0003c0004t0001g0252 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0255 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0266 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0272 a0003c0004t0001g0273 a0003c0004t0001g0274 a0003c0004t0001g0275 a0003c0004t0001g0277 a0003c0004t0001g0279 a0003c0004t0001g0281 a0003c0004t0001g0283 a0003c0004t0001g0286 a0003c0004t0009g0280 a0003c0005t0001g0007 a0003c0005t0001g0190 a0003c0005t0001g0191 a0003c0005t0001g0212 a0003c0005t0001g0224 a0003c0005t0001g0225 a0003c0005t0001g0226 a0003c0005t0001g0227 a0003c0005t0001g0238 a0003c0005t0001g0250 a0003c0005t0001g0262 a0003c0005t0001g0263 a0003c0005t0001g0264 a0003c0005t0001g0265 a0003c0005t0001g0267 a0003c0005t0001g0268 a0003c0005t0001g0269 a0003c0005t0001g0276 a0003c0005t0001g0278 a0003c0005t0001g0284 a0003c0005t0001g0285 a0003c0005t0008g0223 a0003c0009t0001g0008 a0003c0009t0001g0236 a0004c0003t0002g0010 a0004c0003t0002g0011 a0004c0003t0002g0012 a0004c0003t0002g0013 a0004c0003t0002g0336 a0004c0003t0002g0340 a0004c0003t0002g0341 a0004c0003t0002g0350 a0004c0003t0002g0351 a0004c0003t0002g0352 a0004c0003t0002g0353 a0004c0003t0002g0354 a0004c0003t0002g0355 a0004c0003t0002g0356 a0004c0003t0002g0357 a0004c0003t0002g0358 a0004c0003t0002g0359 a0004c0003t0002g0360 a0004c0003t0002g0361 a0004c0003t0002g0363 a0004c0003t0002g0365 a0004c0003t0002g0366 a0004c0003t0002g0367 a0004c0003t0002g0368 a0004c0003t0002g0369 a0004c0003t0002g0370 a0004c0003t0002g0371 a0004c0003t0002g0372 a0004c0003t0002g0373 a0004c0003t0002g0374 a0004c0003t0002g0375 a0004c0003t0002g0376 a0004c0003t0002g0377 a0004c0003t0002g0378 a0004c0003t0002g0380 a0004c0003t0002g0385 a0004c0003t0002g0386 a0004c0003t0002g0387 a0004c0007t0001g0382 a0004c0007t0006g0014 a0004c0007t0006g0381 a0004c0007t0006g0388 a0004c0007t0006g0389 a0004c0025t0002g0362 a0005c0006t0001g0134 a0005c0006t0004g0126 a0005c0006t0004g0127 a0005c0006t0004g0128 a0005c0006t0004g0129 a0005c0006t0004g0130 a0005c0006t0004g0131 a0005c0006t0004g0132 a0005c0006t0004g0133 a0005c0006t0012g0135 a0006c0008t0002g0348 a0006c0008t0002g0349 a0006c0008t0002g0383 a0006c0008t0002g0384 a0007c0010t0001g0089 a0007c0010t0001g0090 a0007c0010t0001g0091 a0008c0013t0003g0043 a0009c0022t0001g0059 a0010c0014t0001g0243 a0011c0017t0001g0088 a0012c0016t0001g0245 a0015c0023t0002g0364 a0016c0024t0002g0379	268	408	0.6569	c.554 others(3): Show c.554G>A	p.Arg others(6): Show p.Arg185Lys	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	4/24	719/4731	554/3375	185/1124	chr7	TogoVar
ANLN_chr7_36384862_36458791	36407944	T T	C C	missense_variant missense_variant	MODERATE	NA19003.hp2 NA19003.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0209 a0013c0018t0001g0209	1	408	0.0025	c.108 others(4): Show c.1084T>C	p.Ser others(6): Show p.Ser362Pro	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	5/24	1249/4731	1084/3375	362/1124	chr7	TogoVar
ANLN_chr7_36384862_36458791	36419278	T T	A A	missense_variant missense_variant	MODERATE	NA18971.hp1 NA18971.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0002 a0016c0024t0002	a0016c0024t0002g0379 a0016c0024t0002g0379	1	408	0.0025	c.166 others(4): Show c.1668T>A	p.Asp others(6): Show p.Asp556Glu	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	10/24	1833/4731	1668/3375	556/1124	chr7	TogoVar
ANLN_chr7_36384862_36458791	36422761	C C	G G	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0168 a0014c0021t0001g0168	1	408	0.0025	c.242 others(4): Show c.2428C>G	p.Arg others(6): Show p.Arg810Gly	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	14/24	2593/4731	2428/3375	810/1124	chr7	TogoVar
ANLN_chr7_36384862_36458791	36422761	C C	T T	missense_variant missense_variant	MODERATE	HG00673.hp2 HG04184.hp2 NA18951.hp2 HG00673.hp2 HG04184.hp2 NA18951.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0089 a0007c0010t0001g0090 a0007c0010t0001g0091 a0007c0010t0001g0089 a0007c0010t0001g0090 a0007c0010t0001g0091	3	408	0.0074	c.242 others(4): Show c.2428C>T	p.Arg others(6): Show p.Arg810Cys	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	14/24	2593/4731	2428/3375	810/1124	chr7	TogoVar
ANLN_chr7_36384862_36458791	36423861	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp2 HG02109.hp1 HG04184.hp2 others(1): Show HG00673.hp2 HG02109.hp1 HG04184.hp2 NA18951.hp2	a0007 a0012 a0007 a0012	a0007c0010 a0012c0016 a0007c0010 a0012c0016	a0007c0010t0001 a0012c0016t0001 a0007c0010t0001 a0012c0016t0001	a0007c0010t0001g0089 a0007c0010t0001g0090 a0007c0010t0001g0091 others(1): Show a0007c0010t0001g0089 a0007c0010t0001g0090 a0007c0010t0001g0091 a0012c0016t0001g0245	4	408	0.0098	c.252 others(4): Show c.2521G>A	p.Glu others(6): Show p.Glu841Lys	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	15/24	2686/4731	2521/3375	841/1124	chr7	TogoVar
ANLN_chr7_36384862_36458791	36449720	C C	T T	missense_variant missense_variant	MODERATE	NA18943.hp1 NA19066.hp2 NA18943.hp1 NA19066.hp2	a0010 a0011 a0010 a0011	a0010c0014 a0011c0017 a0010c0014 a0011c0017	a0010c0014t0001 a0011c0017t0001 a0010c0014t0001 a0011c0017t0001	a0010c0014t0001g0243 a0011c0017t0001g0088 a0010c0014t0001g0243 a0011c0017t0001g0088	2	408	0.0049	c.313 others(4): Show c.3134C>T	p.Ala others(7): Show p.Ala1045Val	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	23/24	3299/4731	3134/3375	1045/1124	chr7	TogoVar
ANO10_chr3_43360848_43627011	43549835	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG01192.hp2 HG02622.hp2 others(5): Show HG00738.hp1 HG01192.hp2 HG02622.hp2 HG02647.hp2 HG03130.hp1 HG03540.hp2 HG03654.hp2 NA20129.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0007 a0004c0004 a0006c0007	a0004c0004t0006 a0004c0004t0015 a0004c0004t0016 others(1): Show a0004c0004t0006 a0004c0004t0015 a0004c0004t0016 a0006c0007t0001	a0004c0004t0006g0222 a0004c0004t0006g0223 a0004c0004t0006g0224 others(5): Show a0004c0004t0006g0222 a0004c0004t0006g0223 a0004c0004t0006g0224 a0004c0004t0015g0220 a0004c0004t0016g0221 a0006c0007t0001g0062 a0006c0007t0001g0063 a0006c0007t0001g0064	8	224	0.0357	c.168 others(4): Show c.1682C>T	p.Thr others(6): Show p.Thr561Met	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	11/13	1796/3155	1682/1983	561/660	chr3	TogoVar
ANO10_chr3_43360848_43627011	43555387	G G	A A	missense_variant missense_variant	MODERATE	NA19004.hp1 NA19004.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0195 a0010c0012t0001g0195	1	224	0.0045	c.155 others(4): Show c.1559C>T	p.Ala others(6): Show p.Ala520Val	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	10/13	1673/3155	1559/1983	520/660	chr3	TogoVar
ANO10_chr3_43360848_43627011	43561311	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00408.hp1 HG00621.hp2 others(132): Show HG00099.hp2 HG00408.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19012.hp1 NA19030.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0009 others(2): Show a0001 a0008 a0009 a0010 a0011	a0001c0001 a0001c0005 a0008c0010 others(3): Show a0001c0001 a0001c0005 a0008c0010 a0009c0013 a0010c0012 a0011c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0005t0001 a0008c0010t0001 a0009c0013t0001 a0010c0012t0001 a0011c0011t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(132): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0185 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0001t0009g0067 a0001c0001t0009g0071 a0001c0001t0013g0093 a0001c0001t0014g0216 a0001c0005t0001g0034 a0001c0005t0001g0035 a0001c0005t0001g0036 a0001c0005t0001g0037 a0008c0010t0001g0110 a0009c0013t0001g0098 a0010c0012t0001g0195 a0011c0011t0001g0080	135	224	0.6027	c.138 others(4): Show c.1385G>A	p.Arg others(6): Show p.Arg462Gln	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	9/13	1499/3155	1385/1983	462/660	chr3	TogoVar
ANO10_chr3_43360848_43627011	43576788	T T	C C	missense_variant missense_variant	MODERATE	HG00738.hp1 HG01192.hp2 HG01243.hp2 others(8): Show HG00738.hp1 HG01192.hp2 HG01243.hp2 HG02559.hp1 HG02572.hp2 HG02818.hp1 HG02976.hp2 HG03130.hp2 HG03579.hp2 HG03654.hp2 NA20300.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0003c0008 a0006c0007 a0003c0003 a0003c0008 a0006c0007	a0003c0003t0002 a0003c0008t0001 a0006c0007t0001 a0003c0003t0002 a0003c0008t0001 a0006c0007t0001	a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(8): Show a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0198 a0003c0008t0001g0137 a0003c0008t0001g0138 a0006c0007t0001g0062 a0006c0007t0001g0063 a0006c0007t0001g0064	11	224	0.0491	c.106 others(4): Show c.1066A>G	p.Ser others(6): Show p.Ser356Gly	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	6/13	1180/3155	1066/1983	356/660	chr3	TogoVar
ANO10_chr3_43360848_43627011	43577004	G G	T T	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01496.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0080 a0011c0011t0001g0080	1	224	0.0045	c.850 others(3): Show c.850C>A	p.Pro others(6): Show p.Pro284Thr	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	6/13	964/3155	850/1983	284/660	chr3	TogoVar
ANO10_chr3_43360848_43627011	43577055	T T	C C	missense_variant missense_variant	MODERATE	NA19002.hp1 NA19002.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0098 a0009c0013t0001g0098	1	224	0.0045	c.799 others(3): Show c.799A>G	p.Asn others(6): Show p.Asn267Asp	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	6/13	913/3155	799/1983	267/660	chr3	TogoVar
ANO10_chr3_43360848_43627011	43577066	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01081.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0110 a0008c0010t0001g0110	1	224	0.0045	c.788 others(3): Show c.788G>A	p.Arg others(6): Show p.Arg263His	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	6/13	902/3155	788/1983	263/660	chr3	TogoVar
ANO10_chr3_43360848_43627011	43577204	T T	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0139 a0007c0014t0001g0139	1	224	0.0045	c.650 others(3): Show c.650A>G	p.Tyr others(6): Show p.Tyr217Cys	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	6/13	764/3155	650/1983	217/660	chr3	TogoVar
ANO10_chr3_43360848_43627011	43605765	C C	G G	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0004 a0012c0009t0004	a0012c0009t0004g0040 a0012c0009t0004g0040	1	224	0.0045	c.88G others(2): Show c.88G>C	p.Glu others(5): Show p.Glu30Gln	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	2/13	202/3155	88/1983	30/660	chr3	TogoVar
ANO10_chr3_43360848_43627011	43605779	T T	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02630.hp2 HG03225.hp2 others(1): Show HG01243.hp1 HG02630.hp2 HG03225.hp2 NA20300.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0003 a0005c0006t0002g0004 a0005c0006t0002g0172 others(1): Show a0005c0006t0002g0003 a0005c0006t0002g0004 a0005c0006t0002g0172 a0005c0006t0002g0173	4	224	0.0179	c.74A others(2): Show c.74A>C	p.Gln others(5): Show p.Gln25Pro	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	2/13	188/3155	74/1983	25/660	chr3	TogoVar
ANO1_chr11_70073317_70194530	70087776	C C	G G	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0001 a0007c0030t0001	a0007c0030t0001g0279 a0007c0030t0001g0279	1	302	0.0033	c.133 others(3): Show c.133C>G	p.Pro others(5): Show p.Pro45Ala	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/26	423/4777	133/2961	45/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70087785	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00741.hp2 HG01069.hp1 others(13): Show HG00639.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG02055.hp2 HG02486.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03492.hp1 NA18952.hp2	a0003 a0006 a0014 others(1): Show a0003 a0006 a0014 a0015	a0003c0007 a0003c0010 a0003c0014 others(4): Show a0003c0007 a0003c0010 a0003c0014 a0003c0019 a0006c0013 a0014c0021 a0015c0020	a0003c0007t0001 a0003c0010t0001 a0003c0014t0001 others(4): Show a0003c0007t0001 a0003c0010t0001 a0003c0014t0001 a0003c0019t0001 a0006c0013t0001 a0014c0021t0003 a0015c0020t0001	a0003c0007t0001g0170 a0003c0007t0001g0173 a0003c0007t0001g0174 others(13): Show a0003c0007t0001g0170 a0003c0007t0001g0173 a0003c0007t0001g0174 a0003c0007t0001g0182 a0003c0007t0001g0299 a0003c0010t0001g0168 a0003c0010t0001g0169 a0003c0010t0001g0179 a0003c0010t0001g0181 a0003c0014t0001g0176 a0003c0014t0001g0180 a0003c0019t0001g0172 a0006c0013t0001g0177 a0006c0013t0001g0178 a0014c0021t0003g0171 a0015c0020t0001g0175	16	302	0.0530	c.142 others(3): Show c.142G>A	p.Glu others(5): Show p.Glu48Lys	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/26	432/4777	142/2961	48/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70087945	T T	G G	missense_variant missense_variant	MODERATE	HG01975.hp1 HG01975.hp1	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0019 a0013c0022t0001g0019	1	302	0.0033	c.302 others(3): Show c.302T>G	p.Leu others(6): Show p.Leu101Arg	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/26	592/4777	302/2961	101/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70088079	G G	A A	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0175 a0015c0020t0001g0175	1	302	0.0033	c.436 others(3): Show c.436G>A	p.Glu others(6): Show p.Glu146Lys	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/26	726/4777	436/2961	146/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70103072	A A	G G	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0157 a0012c0025t0001g0157	1	302	0.0033	c.448 others(3): Show c.448A>G	p.Ile others(6): Show p.Ile150Val	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	3/26	738/4777	448/2961	150/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70103114	G G	A A	missense_variant missense_variant	MODERATE	NA18939.hp2 NA18939.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0001 a0008c0026t0001	a0008c0026t0001g0079 a0008c0026t0001g0079	1	302	0.0033	c.490 others(3): Show c.490G>A	p.Val others(6): Show p.Val164Met	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	3/26	780/4777	490/2961	164/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70116479	G G	A A	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0001 a0009c0027t0001	a0009c0027t0001g0114 a0009c0027t0001g0114	1	302	0.0033	c.877 others(3): Show c.877G>A	p.Val others(6): Show p.Val293Ile	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/26	1167/4777	877/2961	293/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70156948	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0010 a0010	a0010c0028 a0010c0028	a0010c0028t0001 a0010c0028t0001	a0010c0028t0001g0154 a0010c0028t0001g0154	1	302	0.0033	c.150 others(4): Show c.1505C>A	p.Thr others(6): Show p.Thr502Asn	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	16/26	1795/4777	1505/2961	502/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70161260	A A	G G	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0001 a0011c0024t0001	a0011c0024t0001g0287 a0011c0024t0001g0287	1	302	0.0033	c.167 others(4): Show c.1678A>G	p.Ile others(6): Show p.Ile560Val	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	17/26	1968/4777	1678/2961	560/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70161664	T T	C C	missense_variant missense_variant	MODERATE	HG00642.hp1 HG00741.hp2 HG01106.hp1 others(3): Show HG00642.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp2 HG02004.hp2 HG02148.hp1	a0004 a0006 a0004 a0006	a0004c0012 a0004c0023 a0006c0013 a0004c0012 a0004c0023 a0006c0013	a0004c0012t0001 a0004c0023t0001 a0006c0013t0001 a0004c0012t0001 a0004c0023t0001 a0006c0013t0001	a0004c0012t0001g0073 a0004c0012t0001g0082 a0004c0012t0001g0140 others(3): Show a0004c0012t0001g0073 a0004c0012t0001g0082 a0004c0012t0001g0140 a0004c0023t0001g0285 a0006c0013t0001g0177 a0006c0013t0001g0178	6	302	0.0199	c.182 others(4): Show c.1823T>C	p.Phe others(6): Show p.Phe608Ser	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	18/26	2113/4777	1823/2961	608/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70187990	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00609.hp1 HG00642.hp2 others(16): Show HG00140.hp2 HG00609.hp1 HG00642.hp2 HG01123.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01891.hp1 HG02135.hp1 HG02602.hp1 HG02738.hp2 HG03225.hp2 HG03239.hp1 HG04204.hp2 NA18999.hp2 NA19003.hp2 NA19056.hp1 NA20805.hp1	a0002 a0014 a0002 a0014	a0002c0005 a0002c0009 a0014c0021 a0002c0005 a0002c0009 a0014c0021	a0002c0005t0003 a0002c0005t0005 a0002c0005t0011 others(3): Show a0002c0005t0003 a0002c0005t0005 a0002c0005t0011 a0002c0009t0003 a0002c0009t0011 a0014c0021t0003	a0002c0005t0003g0030 a0002c0005t0003g0077 a0002c0005t0003g0088 others(16): Show a0002c0005t0003g0030 a0002c0005t0003g0077 a0002c0005t0003g0088 a0002c0005t0003g0126 a0002c0005t0003g0132 a0002c0005t0003g0137 a0002c0005t0003g0144 a0002c0005t0005g0200 a0002c0005t0005g0205 a0002c0005t0005g0214 a0002c0005t0005g0238 a0002c0005t0005g0242 a0002c0005t0011g0052 a0002c0009t0003g0250 a0002c0009t0003g0255 a0002c0009t0003g0256 a0002c0009t0003g0280 a0002c0009t0011g0295 a0014c0021t0003g0171	19	302	0.0629	c.294 others(4): Show c.2947G>A	p.Gly others(6): Show p.Gly983Arg	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	26/26	3237/4777	2947/2961	983/986	chr11	TogoVar
ANO1_chr11_70073317_70194530	70187996	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0269 a0005c0015t0001g0270 a0005c0015t0001g0269 a0005c0015t0001g0270	2	302	0.0066	c.295 others(4): Show c.2953G>A	p.Val others(6): Show p.Val985Ile	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	26/26	3243/4777	2953/2961	985/986	chr11	TogoVar
ANO2_chr12_5557655_5950259	5563327	G G	A A	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0002 a0011c0021t0002	a0011c0021t0002g0153 a0011c0021t0002g0153	1	162	0.0062	c.296 others(4): Show c.2969C>T	p.Ser others(6): Show p.Ser990Leu	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	25/25	3011/3683	2969/2997	990/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5575854	G G	C C	missense_variant missense_variant	MODERATE	HG00621.hp1 HG00621.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0002 a0012c0022t0002	a0012c0022t0002g0129 a0012c0022t0002g0129	1	162	0.0062	c.260 others(4): Show c.2601C>G	p.Asp others(6): Show p.Asp867Glu	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	23/25	2643/3683	2601/2997	867/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5615295	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0122 a0010c0023t0001g0122	1	162	0.0062	c.181 others(4): Show c.1819G>T	p.Val others(6): Show p.Val607Phe	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	17/25	1861/3683	1819/2997	607/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5732567	A A	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01884.hp1 HG01978.hp2 others(22): Show HG00408.hp1 HG01884.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03688.hp1 HG04228.hp1 NA18612.hp1 NA18993.hp1 NA20129.hp1 NA20805.hp1	a0002 a0007 a0013 a0002 a0007 a0013	a0002c0003 a0002c0006 a0002c0019 others(2): Show a0002c0003 a0002c0006 a0002c0019 a0007c0013 a0013c0025	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(7): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0002c0003t0008 a0002c0006t0001 a0002c0006t0002 a0002c0019t0001 a0007c0013t0001 a0013c0025t0001	a0002c0003t0001g0025 a0002c0003t0001g0083 a0002c0003t0001g0097 others(22): Show a0002c0003t0001g0025 a0002c0003t0001g0083 a0002c0003t0001g0097 a0002c0003t0001g0120 a0002c0003t0002g0124 a0002c0003t0002g0138 a0002c0003t0002g0141 a0002c0003t0002g0147 a0002c0003t0002g0155 a0002c0003t0002g0158 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0003t0003g0107 a0002c0003t0007g0137 a0002c0003t0007g0142 a0002c0003t0008g0049 a0002c0006t0001g0019 a0002c0006t0001g0099 a0002c0006t0002g0125 a0002c0006t0002g0128 a0002c0006t0002g0154 a0002c0019t0001g0023 a0007c0013t0001g0093 a0007c0013t0001g0123 a0013c0025t0001g0033	25	162	0.1543	c.149 others(4): Show c.1498T>G	p.Ser others(6): Show p.Ser500Ala	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	14/25	1540/3683	1498/2997	500/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5744184	A A	C C	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0045 a0008c0014t0001g0046 a0008c0014t0001g0045 a0008c0014t0001g0046	2	162	0.0124	c.132 others(4): Show c.1324T>G	p.Phe others(6): Show p.Phe442Val	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	12/25	1366/3683	1324/2997	442/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5744308	C C	T T	missense_variant missense_variant	MODERATE	HG01978.hp2 HG02273.hp2 HG01978.hp2 HG02273.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0093 a0007c0013t0001g0123 a0007c0013t0001g0093 a0007c0013t0001g0123	2	162	0.0124	c.120 others(4): Show c.1200G>A	p.Met others(6): Show p.Met400Ile	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	12/25	1242/3683	1200/2997	400/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5854134	C C	T T	missense_variant missense_variant	MODERATE	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0002 a0006c0012t0001 a0006c0012t0002	a0006c0012t0001g0056 a0006c0012t0002g0146 a0006c0012t0001g0056 a0006c0012t0002g0146	2	162	0.0124	c.542 others(3): Show c.542G>A	p.Ser others(6): Show p.Ser181Asn	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	4/25	584/3683	542/2997	181/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5921135	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01167.hp2 HG02129.hp1 others(5): Show HG01074.hp2 HG01167.hp2 HG02129.hp1 HG02148.hp2 HG02602.hp2 HG03017.hp2 HG03491.hp1 NA18993.hp1	a0004 a0013 a0004 a0013	a0004c0008 a0004c0009 a0013c0025 a0004c0008 a0004c0009 a0013c0025	a0004c0008t0001 a0004c0009t0001 a0013c0025t0001 a0004c0008t0001 a0004c0009t0001 a0013c0025t0001	a0004c0008t0001g0055 a0004c0008t0001g0061 a0004c0008t0001g0064 others(5): Show a0004c0008t0001g0055 a0004c0008t0001g0061 a0004c0008t0001g0064 a0004c0008t0001g0066 a0004c0009t0001g0054 a0004c0009t0001g0065 a0004c0009t0001g0067 a0013c0025t0001g0033	8	162	0.0494	c.439 others(3): Show c.439C>T	p.Pro others(6): Show p.Pro147Ser	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/25	481/3683	439/2997	147/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5921239	A A	G G	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00438.hp2 HG00558.hp2 others(14): Show HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01346.hp2 HG02080.hp1 HG02273.hp1 HG02559.hp1 HG03704.hp1 NA18982.hp1 NA18991.hp1 NA18998.hp2 NA19091.hp2 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0007 a0003c0011 others(1): Show a0003c0004 a0003c0007 a0003c0011 a0003c0018	a0003c0004t0001 a0003c0004t0002 a0003c0007t0001 others(2): Show a0003c0004t0001 a0003c0004t0002 a0003c0007t0001 a0003c0011t0001 a0003c0018t0004	a0003c0004t0001g0002 a0003c0004t0001g0029 a0003c0004t0001g0030 others(14): Show a0003c0004t0001g0002 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0032 a0003c0004t0001g0034 a0003c0004t0001g0040 a0003c0004t0001g0078 a0003c0004t0001g0109 a0003c0004t0002g0150 a0003c0004t0002g0151 a0003c0007t0001g0037 a0003c0007t0001g0039 a0003c0007t0001g0041 a0003c0007t0001g0042 a0003c0011t0001g0031 a0003c0011t0001g0072 a0003c0018t0004g0038	17	162	0.1049	c.335 others(3): Show c.335T>C	p.Val others(6): Show p.Val112Ala	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/25	377/3683	335/2997	112/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5921243	C C	T T	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0095 a0014c0017t0001g0095	1	162	0.0062	c.331 others(3): Show c.331G>A	p.Gly others(6): Show p.Gly111Arg	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/25	373/3683	331/2997	111/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5922786	C C	G G	missense_variant missense_variant	MODERATE	HG02818.hp2 HG03209.hp1 NA20129.hp2 HG02818.hp2 HG03209.hp1 NA20129.hp2	a0005 a0005	a0005c0010 a0005c0015 a0005c0010 a0005c0015	a0005c0010t0003 a0005c0015t0001 a0005c0010t0003 a0005c0015t0001	a0005c0010t0003g0006 a0005c0010t0003g0108 a0005c0015t0001g0077 a0005c0010t0003g0006 a0005c0010t0003g0108 a0005c0015t0001g0077	3	162	0.0185	c.41G others(2): Show c.41G>C	p.Gly others(5): Show p.Gly14Ala	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	2/25	83/3683	41/2997	14/998	chr12	TogoVar
ANO2_chr12_5557655_5950259	5922798	G G	A A	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0001 a0009c0026t0001	a0009c0026t0001g0047 a0009c0026t0001g0047	1	162	0.0062	c.29C others(2): Show c.29C>T	p.Pro others(5): Show p.Pro10Leu	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	2/25	71/3683	29/2997	10/998	chr12	TogoVar
ANO3_chr11_26327130_26668289	26598894	A A	G G	missense_variant missense_variant	MODERATE	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0053 a0002c0016t0004g0053	1	190	0.0053	c.156 others(4): Show c.1567A>G	p.Lys others(6): Show p.Lys523Glu	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	16/27	1713/5937	1567/2946	523/981	chr11	TogoVar
ANO4_chr12_100789776_101133629	100942423	G G	C C	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01167.hp2 HG02015.hp2 others(8): Show HG01109.hp2 HG01167.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG03195.hp1 HG03516.hp1 HG04184.hp2 NA18960.hp1 NA19077.hp1 NA19080.hp1	a0002 a0002	a0002c0004 a0002c0008 a0002c0009 a0002c0004 a0002c0008 a0002c0009	a0002c0004t0001 a0002c0004t0003 a0002c0008t0001 others(1): Show a0002c0004t0001 a0002c0004t0003 a0002c0008t0001 a0002c0009t0002	a0002c0004t0001g0066 a0002c0004t0001g0081 a0002c0004t0001g0086 others(8): Show a0002c0004t0001g0066 a0002c0004t0001g0081 a0002c0004t0001g0086 a0002c0004t0001g0087 a0002c0004t0001g0090 a0002c0004t0001g0137 a0002c0004t0001g0143 a0002c0004t0001g0167 a0002c0004t0003g0104 a0002c0008t0001g0119 a0002c0009t0002g0173	11	236	0.0466	c.344 others(3): Show c.344G>C	p.Gly others(6): Show p.Gly115Ala	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	5/28	736/4033	344/2868	115/955	chr12	TogoVar
ANO4_chr12_100789776_101133629	100974870	C C	T T	missense_variant missense_variant	MODERATE	NA18963.hp1 NA18963.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0129 a0003c0012t0001g0129	1	236	0.0042	c.583 others(3): Show c.583C>T	p.Arg others(6): Show p.Arg195Cys	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	7/28	975/4033	583/2868	195/955	chr12	TogoVar
ANO4_chr12_100789776_101133629	101042440	G G	A A	missense_variant missense_variant	MODERATE	HG04199.hp1 HG04199.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0140 a0004c0010t0001g0140	1	236	0.0042	c.112 others(4): Show c.1126G>A	p.Val others(6): Show p.Val376Ile	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	12/28	1518/4033	1126/2868	376/955	chr12	TogoVar
ANO5_chr11_22188085_22288357	22218246	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0014 a0013c0021t0014	a0013c0021t0014g0300 a0013c0021t0014g0300	1	364	0.0028	c.139 others(3): Show c.139C>T	p.Pro others(5): Show p.Pro47Ser	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	4/22	547/6742	139/2742	47/913	chr11	TogoVar

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