Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PIWIL1_chr12_130332887_130377637	130338277	GGATGCAG others(35): Show GGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	425	0.0024	-42	c.-13 others(57): Show c.-13+154_-13+195delTCGAGGTCCCAGGTGCGGGAGATGCAGGAG CCGGGTGCGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338441	CGGGAGAT others(35): Show CGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00544.hp2 others(48): Show HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00639.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp1 HG01192.hp1 HG01258.hp1 HG01516.hp1 HG01891.hp1 HG02056.hp2 HG02155.hp1 HG02257.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03490.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18947.hp2 NA18950.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18981.hp2 NA18983.hp2 NA18989.hp2 NA18998.hp1 NA19006.hp1 NA19010.hp1 NA19043.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19087.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0025 a0001c0002t0031 a0002c0003t0041	a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0054 others(39): Show a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0075 a0001c0001t0008g0072 a0001c0002t0001g0043 a0001c0002t0002g0020 a0001c0002t0002g0050 a0001c0002t0002g0055 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0063 a0001c0002t0002g0074 a0001c0002t0003g0004 a0001c0002t0003g0017 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0061 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0080 a0001c0002t0003g0323 a0001c0002t0006g0004 a0001c0002t0008g0019 a0001c0002t0008g0021 a0001c0002t0008g0051 a0001c0002t0008g0058 a0001c0002t0025g0064 a0001c0002t0025g0079 a0001c0002t0031g0062 a0001c0002t0031g0073 a0002c0003t0041g0324	51	425	0.1200	-42	c.-13 others(57): Show c.-13+337_-13+378delTGGGAGATGCAGGAGCCGGGTGCGGGGGCG AGGTCCCAGGTG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338525	CGGGAGAT others(35): Show CGGGAGATGCAGAAGCCGGGTGCGGGGGCGAGGTCCCAGGTGT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20129.hp1 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0118 a0001c0001t0005g0119	2	425	0.0047	-42	c.-13 others(57): Show c.-13+391_-13+432delAAGCCGGGTGCGGGGGCGAGGTCCCAGGTG TGGGAGATGCAG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338571	AGATGCAG others(35): Show AGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(77): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02523.hp1 HG03239.hp1 HG03239.hp2 HG03710.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18973.hp1 NA18978.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19058.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19080.hp2 NA19090.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0009 a0001c0001 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0038 a0002c0003t0011 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0034 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0087 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0002g0014 a0001c0001t0002g0035 a0001c0001t0002g0199 a0001c0001t0003g0195 a0001c0001t0003g0204 a0001c0001t0003g0213 a0001c0001t0003g0226 a0001c0001t0006g0014 a0001c0001t0006g0035 a0001c0001t0006g0193 a0001c0001t0023g0102 a0001c0001t0038g0006 a0002c0003t0011g0224 a0005c0009t0001g0001	80	425	0.1882	-42	c.-13 others(57): Show c.-13+463_-13+504delCGGGGGATGCAGGAGCCGGGTGCGGGGGCG AGGTCCCAGGTG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338655	AGATGCAG others(35): Show AGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0176 a0001c0002t0017g0176	1	425	0.0024	-42	c.-13 others(57): Show c.-13+546_-13+587delGCGGGGGATGCAGGAGCCGGGTGCGGGGGC GAGGTCCCAGGT	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PJA2_chr5_109329722_109414974	109337507	ATTTTAAT others(35): Show ATTTTAATACCTTTTCCTCCCTGCCCAATCAGACTCTAGTTTC	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0308 a0002c0002t0001g0308	1	346	0.0029	-42	c.200 others(59): Show c.2002-193_2002-152delGAAACTAGAGTCTGATTGGGCAGGGAGG AAAAGGTATTAAAA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKD1L3_chr16_71924538_72005402	71945279	TATATATA others(35): Show TATATATATATATATATATATATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18994.hp2 NA19057.hp2 NA18973.hp1 NA18994.hp2 NA19057.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0165 a0005c0003t0001g0195 a0005c0003t0001g0230 a0005c0003t0001g0165 a0005c0003t0001g0195 a0005c0003t0001g0230	3	308	0.0097	-42	c.371 others(61): Show c.3719-1151_3719-1110delGTGTGTGTGTGTGTGTATATATATAT ATATATATATATATAT	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314997	AGGAAGGA others(35): Show AGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp2 HG02027.hp1 others(5): Show HG01081.hp2 HG01123.hp2 HG02027.hp1 HG02132.hp2 HG02135.hp2 HG06807.hp1 NA18950.hp2 NA19002.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0091 others(5): Show a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0241 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0007c0008t0001g0291	8	306	0.0261	-42	c.349 others(61): Show c.349+14172_349+14213delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1_chr6_51610299_52092613	52051812	GTCACCAA others(35): Show GTCACCAAAGACCCCCAGCCAGTTGTCTTGGGCACCAAAAAAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01071.hp2 others(33): Show HG00423.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01175.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02257.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG03098.hp2 HG03239.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18964.hp2 NA19001.hp2 NA19005.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0005 others(6): Show a0003 a0004 a0005 a0015 a0019 a0020 a0021 a0022 a0023	a0003c0007 a0003c0012 a0003c0013 others(22): Show a0003c0007 a0003c0012 a0003c0013 a0003c0015 a0003c0016 a0003c0036 a0003c0041 a0003c0048 a0004c0006 a0004c0008 a0004c0014 a0004c0043 a0004c0046 a0004c0047 a0004c0064 a0005c0037 a0005c0038 a0005c0039 a0005c0040 a0015c0025 a0019c0049 a0020c0050 a0021c0045 a0022c0042 a0023c0044	a0003c0007t0001 a0003c0012t0001 a0003c0013t0001 others(25): Show a0003c0007t0001 a0003c0012t0001 a0003c0013t0001 a0003c0015t0001 a0003c0016t0001 a0003c0036t0001 a0003c0041t0001 a0003c0048t0001 a0004c0006t0002 a0004c0006t0003 a0004c0008t0003 a0004c0008t0004 a0004c0008t0011 a0004c0014t0004 a0004c0043t0015 a0004c0046t0002 a0004c0047t0019 a0004c0064t0003 a0005c0037t0001 a0005c0038t0001 a0005c0039t0001 a0005c0040t0001 a0015c0025t0001 a0019c0049t0001 a0020c0050t0001 a0021c0045t0001 a0022c0042t0002 a0023c0044t0001	a0003c0007t0001g0037 a0003c0007t0001g0043 a0003c0007t0001g0049 others(33): Show a0003c0007t0001g0037 a0003c0007t0001g0043 a0003c0007t0001g0049 a0003c0012t0001g0025 a0003c0012t0001g0032 a0003c0013t0001g0052 a0003c0013t0001g0054 a0003c0015t0001g0039 a0003c0015t0001g0041 a0003c0016t0001g0027 a0003c0016t0001g0028 a0003c0036t0001g0042 a0003c0041t0001g0046 a0003c0048t0001g0047 a0004c0006t0002g0048 a0004c0006t0002g0055 a0004c0006t0003g0040 a0004c0008t0003g0003 a0004c0008t0004g0045 a0004c0008t0011g0026 a0004c0014t0004g0024 a0004c0014t0004g0033 a0004c0043t0015g0057 a0004c0046t0002g0050 a0004c0047t0019g0015 a0004c0064t0003g0053 a0005c0037t0001g0038 a0005c0038t0001g0034 a0005c0039t0001g0030 a0005c0040t0001g0029 a0015c0025t0001g0031 a0019c0049t0001g0035 a0020c0050t0001g0023 a0021c0045t0001g0036 a0022c0042t0002g0051 a0023c0044t0001g0044	36	134	0.2687	-42	c.214 others(61): Show c.2140+1222_2140+1263delATTTTTTGGTGCCCAAGACAACTGGC TGGGGGTCTTTGGTGA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	21/66			chr6	TogoVar
PKM_chr15_72194029_72236190	72209399	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	370	0.0027	-42	c.565 others(57): Show c.565+232_565+273delCATATATATATATATATATATATATATATA TATATATATATA	PKM	ENSG00000067225.21	transcript	ENST00000335181.10	protein_coding	5/10			chr15	TogoVar
PKM_chr15_72194029_72236190	72209417	ATATATAT others(35): Show ATATATATATATATATATATATATGTATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(86): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01081.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18987.hp2 NA18999.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19060.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(73): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0003t0001g0234 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0288 a0001c0003t0001g0290 a0001c0005t0001g0169 a0001c0005t0001g0210 a0001c0005t0001g0211	89	370	0.2405	-42	c.565 others(57): Show c.565+214_565+255delCATATATATATATATATACATATATATATA TATATATATATA	PKM	ENSG00000067225.21	transcript	ENST00000335181.10	protein_coding	5/10			chr15	TogoVar
PLA2G4E_chr15_41976582_42026042	41987928	GGGGCCGC others(35): Show GGGGCCGCCCCCCATCACCCAGCCATGAGGGAAAGCCGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01978.hp2 HG00735.hp1 HG01978.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0381 a0006c0020t0001g0382 a0006c0020t0001g0381 a0006c0020t0001g0382	2	422	0.0047	-42	c.174 others(58): Show c.1744+79_1744+120delGCCCCCGGCTTTCCCTCATGGCTGGGTGA TGGGGGGCGGCCC	PLA2G4E	ENSG00000188089.14	transcript	ENST00000696112.1	protein_coding	16/19			chr15	TogoVar
PLA2G7_chr6_46699201_46740375	46734415	TGAGAGAG others(35): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0050 a0001c0001t0016g0050	1	392	0.0026	-42	c.-35 others(57): Show c.-35+723_-35+764delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	PLA2G7	ENSG00000146070.17	transcript	ENST00000274793.12	protein_coding	1/11			chr6	TogoVar
PLAAT3_chr11_63569462_63619433	63572958	TTGTGTGT others(35): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02723.hp1 HG02723.hp2 others(7): Show HG02258.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0167 a0001c0001t0001g0207 a0001c0001t0001g0307 others(7): Show a0001c0001t0001g0167 a0001c0001t0001g0207 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0004g0150	10	352	0.0284	-42	c.19 others(53): Show c.1945_*1986delCACACACACACACACACACACACACACACACACA CACACACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		1503		chr11	TogoVar
PLCB1_chr20_8127266_8889900	8821494	AAAATATG others(35): Show AAAATATGTATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02647.hp1 others(2): Show HG01884.hp2 HG02559.hp1 HG02647.hp1 NA19240.hp2 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0001c0011 others(2): Show a0001c0001 a0001c0008 a0001c0011 a0001c0022 a0006c0013	a0001c0001t0014 a0001c0008t0012 a0001c0011t0003 others(2): Show a0001c0001t0014 a0001c0008t0012 a0001c0011t0003 a0001c0022t0015 a0006c0013t0001	a0001c0001t0014g0007 a0001c0008t0012g0104 a0001c0011t0003g0067 others(2): Show a0001c0001t0014g0007 a0001c0008t0012g0104 a0001c0011t0003g0067 a0001c0022t0015g0100 a0006c0013t0001g0013	5	106	0.0472	-42	c.342 others(63): Show c.3423+31235_3423+31276delAATATGTATATATATATATATATA TATATATATATATATATA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCH1_chr3_155474881_155750071	155653118	GATAGATA others(35): Show GATAGATATAGATATAGATATAGATATAGATATAGATATAGAT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	264	0.0038	-42	c.79+ others(59): Show c.79+50986_79+51027delATCTATATCTATATCTATATCTATATCT ATATCTATATCTAT	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22			chr3	TogoVar
PLCH2_chr1_2471289_2510532	2478341	GGTGAGGA others(35): Show GGTGAGGAGTGGCCGTGCCTCCGCTGACGGCCGTGTTTCTCCC	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0123 a0003c0005t0002g0123	1	383	0.0026	-42	c.125 others(55): Show c.125-99_125-58delTTCTCCCGTGAGGAGTGGCCGTGCCTCCGCTG ACGGCCGTGT	PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLCH2_chr1_2471289_2510532	2478385	TGAGGAGT others(35): Show TGAGGAGTGGCCGTGCCTCCGCTGACGGCCGTGTCTCTCCTGC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	383	0.0026	-42	c.125 others(55): Show c.125-80_125-39delCGTGCCTCCGCTGACGGCCGTGTCTCTCCTGC GAGGAGTGGC	PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLCH2_chr1_2471289_2510532	2485546	TGCCTCAG others(35): Show TGCCTCAGCCTGGGGGTGCTGCTTAGGGACCTCCACTCTACTG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	383	0.0026	-42	c.816 others(59): Show c.816+1018_816+1059delAGCCTGGGGGTGCTGCTTAGGGACCTCC ACTCTACTGGCCTC	PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLCH2_chr1_2471289_2510532	2503245	ACCTCCTG others(35): Show ACCTCCTGGGCGGCTGGCGACCTGCATGGCCCCTGATGCCTTT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	383	0.0026	-42	c.296 others(59): Show c.2960-673_2960-632delCCTGGGCGGCTGGCGACCTGCATGGCCC CTGATGCCTTTCCT	PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLD1_chr3_171595404_171815483	171682124	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0062 a0001c0016t0004g0062	1	294	0.0034	-42	c.186 others(61): Show c.1868-4472_1868-4431delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	16/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764899	GGAAGGAA others(35): Show GGAAGGAAGGAAGGAAAGAAAGAAAGGAAAGAAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG02647.hp1 HG03195.hp1	a0001 a0010 a0001 a0010	a0001c0005 a0010c0013 a0001c0005 a0010c0013	a0001c0005t0010 a0010c0013t0012 a0001c0005t0010 a0010c0013t0012	a0001c0005t0010g0116 a0010c0013t0012g0283 a0001c0005t0010g0116 a0010c0013t0012g0283	2	294	0.0068	-42	c.-31 others(61): Show c.-31-26859_-31-26818delTTTCTTTCCTTTCTTTCCTTTCTTTC TTTCCTTCCTTCCTTC	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242387619	TATTTTAT others(35): Show TATTTTATCTATTTTATATAAAATTTTATCTATTTTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02615.hp2 others(16): Show HG02145.hp1 HG02258.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02895.hp2 HG02965.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG06807.hp1 NA18944.hp1 NA18989.hp2 NA19002.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021 a0001c0001t0047 a0001c0001t0055 a0001c0001t0078 a0001c0002t0003 a0001c0002t0023 a0001c0002t0024 a0001c0002t0066 a0001c0002t0068	a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0080 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0080 a0001c0001t0004g0093 a0001c0001t0005g0047 a0001c0001t0008g0012 a0001c0001t0014g0179 a0001c0001t0014g0185 a0001c0001t0014g0186 a0001c0001t0021g0117 a0001c0001t0047g0118 a0001c0001t0055g0123 a0001c0001t0078g0183 a0001c0002t0003g0139 a0001c0002t0003g0143 a0001c0002t0023g0155 a0001c0002t0024g0150 a0001c0002t0066g0146 a0001c0002t0068g0129	19	188	0.1011	-42	c.190 others(61): Show c.190-39419_190-39378delTTTATATAAAATAGATAAAATTTTAT ATAAAATAGATAAAAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHA6_chr1_204213853_204364929	204234954	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02976.hp2 others(2): Show HG02622.hp1 HG02647.hp2 HG02976.hp2 NA18522.hp1 NA19240.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0191 a0004c0007t0010g0197 a0004c0007t0010g0198 others(2): Show a0004c0007t0010g0191 a0004c0007t0010g0197 a0004c0007t0010g0198 a0004c0007t0010g0203 a0004c0007t0010g0268	5	270	0.0185	-42	c.241 others(61): Show c.2410-4410_2410-4369delTATATATATATATATATATATATATA TATATATATATATATA	PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	17/22			chr1	TogoVar
PLEKHA8_chr7_30023412_30089650	30056305	TCTCTCTC others(35): Show TCTCTCTCTATATATATATATATATATAAATAACATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02165.hp1 NA18991.hp2 others(3): Show HG00741.hp1 HG02165.hp1 NA18991.hp2 NA19002.hp1 NA19012.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0016 a0001c0002t0003 a0001c0002t0016	a0001c0002t0003g0004 a0001c0002t0003g0179 a0001c0002t0003g0181 others(2): Show a0001c0002t0003g0004 a0001c0002t0003g0179 a0001c0002t0003g0181 a0001c0002t0003g0185 a0001c0002t0016g0175	6	234	0.0256	-42	c.103 others(60): Show c.1039+964_1039+1005delCTCTCTCTATATATATATATATATATA AATAACATATATATA	PLEKHA8	ENSG00000106086.21	transcript	ENST00000449726.6	protein_coding	9/13			chr7	TogoVar
PLGRKT_chr9_5352971_5442925	5435963	CTCTGTGC others(35): Show CTCTGTGCCAGAGTCAGCTTCAAAGCTGAGCACAGGATACCAA	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	414	0.0024	-42	c.-7+ others(55): Show c.-7+564_-7+605delTTGGTATCCTGTGCTCAGCTTTGAAGCTGACT CTGGCACAGA	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	2/5			chr9	TogoVar
PLIN4_chr19_4497192_4523486	4516480	CAGCAGCC others(35): Show CAGCAGCCCCCCAGATAGCAGGAACTGAAATGTCCCAGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp1 HG03098.hp2 HG03209.hp1	a0038 a0038	a0038c0045 a0038c0045	a0038c0045t0013 a0038c0045t0013	a0038c0045t0013g0293 a0038c0045t0013g0294 a0038c0045t0013g0293 a0038c0045t0013g0294	2	412	0.0049	-42	c.258 others(56): Show c.258+95_258+136delCCCTCCTGGGACATTTCAGTTCCTGCTATCT GGGGGGCTGCT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	4/7			chr19	TogoVar
PLS3_chrX_115556174_115655861	115630820	AATACATG others(35): Show AATACATGTATATATGTATATATATGTATAATATATGTATATT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	254	0.0079	-42	c.500 others(57): Show c.500+919_500+960delTGTATAATATATGTATATTATACATGTATA TATGTATATATA	PLS3	ENSG00000102024.19	transcript	ENST00000355899.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXDC2_chr10_19811432_20294856	19973304	ATATACTC others(35): Show ATATACTCACATATATATGTATACATATATATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01978.hp1 HG03669.hp1 others(9): Show HG01496.hp1 HG01978.hp1 HG03669.hp1 HG03834.hp1 HG04115.hp2 NA18959.hp1 NA18961.hp1 NA19030.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0068 a0001c0001t0071 a0002c0002t0002 others(8): Show a0001c0001t0068 a0001c0001t0071 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0020 a0002c0002t0024 a0002c0002t0090 a0002c0002t0112 a0003c0003t0042 a0003c0003t0104	a0001c0001t0068g0173 a0001c0001t0071g0074 a0002c0002t0002g0167 others(9): Show a0001c0001t0068g0173 a0001c0001t0071g0074 a0002c0002t0002g0167 a0002c0002t0002g0172 a0002c0002t0005g0113 a0002c0002t0007g0038 a0002c0002t0020g0080 a0002c0002t0024g0043 a0002c0002t0090g0148 a0002c0002t0112g0035 a0003c0003t0042g0022 a0003c0003t0104g0081	12	180	0.0667	-42	c.113 others(61): Show c.113-28436_113-28395delTATATATGTATACTCACATATATATG TATACATATATATGTG	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044205	CTCTCTGT others(35): Show CTCTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG03139.hp1 others(1): Show HG02572.hp1 HG02809.hp2 HG03139.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0029 a0001c0001t0125	a0001c0001t0001g0009 a0001c0001t0010g0131 a0001c0001t0029g0003 others(1): Show a0001c0001t0001g0009 a0001c0001t0010g0131 a0001c0001t0029g0003 a0001c0001t0125g0055	4	180	0.0222	-42	c.325 others(59): Show c.325-2660_325-2619delCTGTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126401	ATGTATAT others(35): Show ATGTATATACAACACACGTTATATATGTATATACAACACACGT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0082 a0003c0003t0082	a0003c0003t0082g0147 a0003c0003t0082g0147	1	180	0.0056	-42	c.542 others(61): Show c.542-16892_542-16851delGTATATACAACACACGTTATATATGT ATATACAACACACGTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA4_chr7_132118340_132581470	132188973	GGAAAGGA others(35): Show GGAAAGGAAAGGAAAGGAAAGGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG02055.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0005 a0001c0001t0013 a0001c0002t0005	a0001c0001t0013g0033 a0001c0002t0005g0071 a0001c0001t0013g0033 a0001c0002t0005g0071	2	88	0.0227	-42	c.285 others(61): Show c.2857-1408_2857-1367delTCTCTCTCTCTCTCTCTCTCTCCTTT CCTTTCCTTTCCTTTC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50285250	ACCCCTCC others(35): Show ACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGGCAC	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0029 a0003c0015t0002g0029	1	302	0.0033	-42	c.208 others(59): Show c.2088+508_2088+549delGTGCCGGTTGGTGACAGGCAGGCTCAGG TGCGGAGGGAGGGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PMM2_chr16_8792839_8854325	8850466	GGAGGGAG others(35): Show GGAGGGAGAGGCTAGCCAGGAAGTTGAGCTTGAACCTGATCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0265 a0001c0001t0037g0265	1	408	0.0025	-42	c.26 others(53): Show c.2642_*2683delGAGGGAGAGGCTAGCCAGGAAGTTGAGCTTGAAC CTGATCCC	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		1142		chr16	TogoVar
PMS1_chr2_189779450_189882629	189842962	TTATATAT others(35): Show TTATATATATATATATACACACACACATATATGTGTGTGTGTA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02257.hp2 HG02451.hp2 others(15): Show HG02135.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03453.hp2 HG03490.hp2 HG03834.hp1 NA18906.hp1 NA18939.hp1 NA19000.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(15): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0145 a0001c0001t0002g0130 a0001c0001t0003g0211 a0001c0001t0003g0215 a0001c0001t0004g0066 a0001c0001t0005g0119	18	234	0.0769	-42	c.583 others(57): Show c.583-992_583-951delATATATACACACACACATATATGTGTGTGT GTATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNPLA7_chr9_137454952_137555402	137503576	AGGAGAAG others(35): Show AGGAGAAGGAGGAGGGAGAAGGAGAAGGAGGAAGAAGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00423.hp1 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0061 a0001c0001t0001g0026 a0001c0001t0001g0061	2	188	0.0106	-42	c.147 others(61): Show c.1474-1891_1474-1850delCTCCTCCTTCTTCCTCCTTCTCCTTC TCCCTCCTCCTTCTCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
POLR2J_chr7_102468128_102483922	102476987	ATGCCTGG others(35): Show ATGCCTGGCCTGTTCCTTTTTTCTTACGCCAACATAATGAAAC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	410	0.0024	-42	c.54- others(55): Show c.54-759_54-718delGTTTCATTATGTTGGCGTAAGAAAAAAGGAAC AGGCCAGGCA	POLR2J	ENSG00000005075.16	transcript	ENST00000292614.10	protein_coding	1/3			chr7	TogoVar
POLRMT_chr19_612221_638537	613608	CGGGGATG others(35): Show CGGGGATGGGGATGGGGATGGGGATGGGGCCGGGGATGGGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG03540.hp2 HG01891.hp1 HG02886.hp2 HG03540.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0267 a0007c0010t0002g0268 a0007c0010t0002g0269 a0007c0010t0002g0267 a0007c0010t0002g0268 a0007c0010t0002g0269	3	422	0.0071	-42	c.36 others(53): Show c.3624_*3665delATCCCCATCCCCGGCCCCATCCCCATCCCCATCC CCATCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3612		chr19	TogoVar
POLRMT_chr19_612221_638537	613620	TGGGGATG others(35): Show TGGGGATGGGGATGGGGCCGGGGATGGGGATGGGGATGGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0007 a0003c0002t0004g0007	1	422	0.0024	-42	c.36 others(53): Show c.3612_*3653delGGCCCCATCCCCATCCCCATCCCCGGCCCCATCC CCATCCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3600		chr19	TogoVar
POU2AF2_chr11_111240725_111291401	111264532	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	380	0.0026	-42	c.120 others(59): Show c.120+8442_120+8483delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU6F2_chr7_38972909_39473601	39454655	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG02257.hp2 others(5): Show HG00438.hp2 HG00741.hp2 HG02257.hp2 HG02615.hp1 HG03098.hp1 HG04115.hp2 NA18966.hp1 NA19087.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0008 others(1): Show a0001c0001 a0001c0002 a0002c0008 a0006c0013	a0001c0001t0008 a0001c0002t0019 a0002c0008t0006 others(1): Show a0001c0001t0008 a0001c0002t0019 a0002c0008t0006 a0006c0013t0006	a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0064 others(5): Show a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0002t0019g0052 a0002c0008t0006g0043 a0002c0008t0006g0137 a0002c0008t0006g0152 a0006c0013t0006g0017	8	170	0.0471	-42	c.148 others(61): Show c.1489+2986_1489+3027delTATATATATATATATATATATATATA TATATATATATATATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPM1D_chr17_60595193_60671280	60645530	ATATGTGT others(35): Show ATATGTGTATATATATGTATATATATGTGTGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	214	0.0047	-42	c.827 others(59): Show c.827-2358_827-2317delGTGTATATATATGTATATATATGTGTGT GTATATATATGTAT	PPM1D	ENSG00000170836.13	transcript	ENST00000305921.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1J_chr1_112704998_112720332	112706452	CACACACA others(35): Show CACACACACACACCACACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01515.hp2 HG00738.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	-42	c.36 others(53): Show c.3669_*3710delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGT GTGTGTGT	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3545		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112706454	CACACACA others(35): Show CACACACACACCACACACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(77): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01943.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG03098.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp2 NA18522.hp1 NA18940.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18983.hp1 NA18983.hp2 NA18991.hp1 NA18995.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp2 NA19081.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20805.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0009 a0013	a0001c0001 a0001c0009 a0003c0003 others(3): Show a0001c0001 a0001c0009 a0003c0003 a0007c0006 a0009c0012 a0013c0016	a0001c0001t0001 a0001c0009t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0009t0001 a0003c0003t0001 a0007c0006t0001 a0009c0012t0001 a0013c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0009t0001g0030 a0003c0003t0001g0015 a0007c0006t0001g0028 a0009c0012t0001g0046 a0013c0016t0001g0055	80	422	0.1896	-42	c.36 others(53): Show c.3667_*3708delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGT GTGTGTGT	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3543		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112706456	CACACACA others(35): Show CACACACACCACACACACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02976.hp1 HG01934.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0001 a0001c0001t0001g0026	2	422	0.0047	-42	c.36 others(53): Show c.3665_*3706delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG GTGTGTGT	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3541		chr1	TogoVar
PPP1R12C_chr19_55085918_55122637	55097073	TCACCACC others(35): Show TCACCACCGTCTTCACCCCTACCCCGCGCAGTTCGCAGTTCAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	390	0.0026	-42	c.952 others(57): Show c.952-780_952-739delGTGAACTGCGAACTGCGCGGGGTAGGGGTG AAGACGGTGGTG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP1R16A_chr8_144472982_144507121	144505490	GTGCGTTC others(35): Show GTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02970.hp2 others(2): Show HG02145.hp2 HG02572.hp2 HG02970.hp2 HG03453.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0002g0162 a0001c0001t0003g0216 a0001c0001t0010g0061 others(2): Show a0001c0001t0002g0162 a0001c0001t0003g0216 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0063	5	356	0.0140	-42	c.35 others(53): Show c.3588_*3629delTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGC GCCCACGT	PPP1R16A	ENSG00000160972.10	transcript	ENST00000435887.2	protein_coding		3370		chr8	TogoVar
PPP1R16A_chr8_144472982_144507121	144505532	TTGCGTTC others(35): Show TTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG04228.hp1 NA18960.hp1 others(2): Show HG02818.hp2 HG04228.hp1 NA18960.hp1 NA18967.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0083 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0083 a0001c0001t0002g0171	5	356	0.0140	-42	c.36 others(53): Show c.3630_*3671delTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGC GCCCACGG	PPP1R16A	ENSG00000160972.10	transcript	ENST00000435887.2	protein_coding		3412		chr8	TogoVar
PPP5C_chr19_46342087_46395975	46389362	AACACACA others(35): Show AACACACACACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01099.hp2 HG01993.hp2 others(9): Show HG00621.hp2 HG01099.hp2 HG01993.hp2 HG02056.hp2 HG02109.hp2 HG02559.hp2 HG02886.hp2 HG06807.hp2 NA18984.hp1 NA19043.hp1 NA19065.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0210 a0001c0001t0001g0218 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0280 a0001c0002t0002g0024	12	394	0.0305	-42	c.135 others(59): Show c.1356-631_1356-590delCACACACACACACACACACACACACACA CACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R1_chr19_55224779_55264017	55261533	GGTCAGGG others(35): Show GGTCAGGGGTCAGCCTCCTCTGAGCTCAGCCTCCTCTCTGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	378	0.0027	-42	c.-31 others(53): Show c.-3147_-3106delTTCCAGAGAGGAGGCTGAGCTCAGAGGAGGCTGA CCCCTGAC	PPP6R1	ENSG00000105063.19	transcript	ENST00000412770.7	protein_coding		2517		chr19	TogoVar

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